Browse SMARCB1 in pancancer

Summary
SymbolSMARCB1
NameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Aliases BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ......
Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Domain, Function and Classification
> Gene Ontology
> KEGG and Reactome Pathway
> Domain, Function and Classification
 
Domain PF04855 SNF5 / SMARCB1 / INI1
Function

Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1.

Classification
Class Modification Substrate Product PubMed
Histone modification read # H3K56 # 21423274
> Gene Ontology
 
Biological Process GO:0001678 cellular glucose homeostasis
GO:0001701 in utero embryonic development
GO:0001824 blastocyst development
GO:0001835 blastocyst hatching
GO:0006333 chromatin assembly or disassembly
GO:0006337 nucleosome disassembly
GO:0006338 chromatin remodeling
GO:0006356 regulation of transcription from RNA polymerase I promoter
GO:0006360 transcription from RNA polymerase I promoter
GO:0006473 protein acetylation
GO:0006475 internal protein amino acid acetylation
GO:0006479 protein methylation
GO:0008213 protein alkylation
GO:0009303 rRNA transcription
GO:0009743 response to carbohydrate
GO:0009746 response to hexose
GO:0009749 response to glucose
GO:0009756 carbohydrate mediated signaling
GO:0009757 hexose mediated signaling
GO:0010182 sugar mediated signaling pathway
GO:0010255 glucose mediated signaling pathway
GO:0015074 DNA integration
GO:0016570 histone modification
GO:0016571 histone methylation
GO:0016573 histone acetylation
GO:0018022 peptidyl-lysine methylation
GO:0018023 peptidyl-lysine trimethylation
GO:0018027 peptidyl-lysine dimethylation
GO:0018205 peptidyl-lysine modification
GO:0018393 internal peptidyl-lysine acetylation
GO:0018394 peptidyl-lysine acetylation
GO:0019058 viral life cycle
GO:0019079 viral genome replication
GO:0019080 viral gene expression
GO:0019083 viral transcription
GO:0031056 regulation of histone modification
GO:0031057 negative regulation of histone modification
GO:0031058 positive regulation of histone modification
GO:0031060 regulation of histone methylation
GO:0031061 negative regulation of histone methylation
GO:0031498 chromatin disassembly
GO:0032259 methylation
GO:0032844 regulation of homeostatic process
GO:0032846 positive regulation of homeostatic process
GO:0032984 macromolecular complex disassembly
GO:0032986 protein-DNA complex disassembly
GO:0033500 carbohydrate homeostasis
GO:0034284 response to monosaccharide
GO:0034728 nucleosome organization
GO:0034968 histone lysine methylation
GO:0035065 regulation of histone acetylation
GO:0035066 positive regulation of histone acetylation
GO:0035188 hatching
GO:0035821 modification of morphology or physiology of other organism
GO:0036123 histone H3-K9 dimethylation
GO:0036124 histone H3-K9 trimethylation
GO:0039692 single stranded viral RNA replication via double stranded DNA intermediate
GO:0039694 viral RNA genome replication
GO:0039703 RNA replication
GO:0042593 glucose homeostasis
GO:0042790 transcription of nuclear large rRNA transcript from RNA polymerase I promoter
GO:0043044 ATP-dependent chromatin remodeling
GO:0043241 protein complex disassembly
GO:0043414 macromolecule methylation
GO:0043543 protein acylation
GO:0043900 regulation of multi-organism process
GO:0043902 positive regulation of multi-organism process
GO:0043903 regulation of symbiosis, encompassing mutualism through parasitism
GO:0043921 modulation by host of viral transcription
GO:0043923 positive regulation by host of viral transcription
GO:0043966 histone H3 acetylation
GO:0043967 histone H4 acetylation
GO:0043970 histone H3-K9 acetylation
GO:0044033 multi-organism metabolic process
GO:0045943 positive regulation of transcription from RNA polymerase I promoter
GO:0046782 regulation of viral transcription
GO:0048524 positive regulation of viral process
GO:0050434 positive regulation of viral transcription
GO:0050792 regulation of viral process
GO:0051090 regulation of sequence-specific DNA binding transcription factor activity
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0051567 histone H3-K9 methylation
GO:0051570 regulation of histone H3-K9 methylation
GO:0051573 negative regulation of histone H3-K9 methylation
GO:0051702 interaction with symbiont
GO:0051817 modification of morphology or physiology of other organism involved in symbiotic interaction
GO:0051851 modification by host of symbiont morphology or physiology
GO:0052312 modulation of transcription in other organism involved in symbiotic interaction
GO:0052472 modulation by host of symbiont transcription
GO:0061647 histone H3-K9 modification
GO:0071322 cellular response to carbohydrate stimulus
GO:0071326 cellular response to monosaccharide stimulus
GO:0071331 cellular response to hexose stimulus
GO:0071333 cellular response to glucose stimulus
GO:0071684 organism emergence from protective structure
GO:0071824 protein-DNA complex subunit organization
GO:0090239 regulation of histone H4 acetylation
GO:0090240 positive regulation of histone H4 acetylation
GO:0098781 ncRNA transcription
GO:1900109 regulation of histone H3-K9 dimethylation
GO:1900110 negative regulation of histone H3-K9 dimethylation
GO:1900112 regulation of histone H3-K9 trimethylation
GO:1900113 negative regulation of histone H3-K9 trimethylation
GO:1901836 regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter
GO:1901838 positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter
GO:1901983 regulation of protein acetylation
GO:1901985 positive regulation of protein acetylation
GO:1902275 regulation of chromatin organization
GO:1902659 regulation of glucose mediated signaling pathway
GO:1902661 positive regulation of glucose mediated signaling pathway
GO:1903900 regulation of viral life cycle
GO:1903902 positive regulation of viral life cycle
GO:1905268 negative regulation of chromatin organization
GO:1905269 positive regulation of chromatin organization
GO:2000615 regulation of histone H3-K9 acetylation
GO:2000617 positive regulation of histone H3-K9 acetylation
GO:2000756 regulation of peptidyl-lysine acetylation
GO:2000758 positive regulation of peptidyl-lysine acetylation
Molecular Function GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0000987 core promoter proximal region sequence-specific DNA binding
GO:0001013 RNA polymerase I regulatory region DNA binding
GO:0001046 core promoter sequence-specific DNA binding
GO:0001047 core promoter binding
GO:0001158 enhancer sequence-specific DNA binding
GO:0001159 core promoter proximal region DNA binding
GO:0001163 RNA polymerase I regulatory region sequence-specific DNA binding
GO:0001164 RNA polymerase I CORE element sequence-specific DNA binding
GO:0002039 p53 binding
GO:0003682 chromatin binding
GO:0003713 transcription coactivator activity
GO:0008134 transcription factor binding
GO:0030957 Tat protein binding
GO:0031490 chromatin DNA binding
GO:0031491 nucleosome binding
GO:0031492 nucleosomal DNA binding
GO:0035326 enhancer binding
GO:0043566 structure-specific DNA binding
Cellular Component GO:0000785 chromatin
GO:0000790 nuclear chromatin
GO:0000803 sex chromosome
GO:0001741 XY body
GO:0016514 SWI/SNF complex
GO:0044454 nuclear chromosome part
GO:0070603 SWI/SNF superfamily-type complex
GO:0071564 npBAF complex
GO:0071565 nBAF complex
GO:0090544 BAF-type complex
> KEGG and Reactome Pathway
 
KEGG -
Reactome R-HSA-3247509: Chromatin modifying enzymes
R-HSA-4839726: Chromatin organization
R-HSA-3214858: RMTs methylate histone arginines
Summary
SymbolSMARCB1
NameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Aliases BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ......
Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Mutation landscape in primary tumor tissue from TCGA
> Mutation landscape in cancer cell line from CCLE
> All mutations from COSMIC database V81
> Variations from text mining
> The Cancer Genome Atlas (TCGA)
 
> Cancer Cell Line Encyclopedia (CCLE)
 
> Catalogue of Somatic Mutations in Cancer (COSMIC)
 
COSMIC ID CDS change AA change Mutation Type Anatomical Site
COSM29495c.1145delCp.P383fs*4Deletion - FrameshiftCentral_nervous_system
COSM24596c.978C>Ap.Y326*Substitution - NonsenseCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1093c.1158+116insGp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1090c.1119-41G>Ap.?UnknownHaematopoietic_and_lymphoid_tissue
COSM24617c.1_628del628p.?UnknownSoft_tissue
COSM4991486c.664C>Tp.L222FSubstitution - MissenseSkin
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1130490c.397C>Ap.P133TSubstitution - MissenseProstate
COSM53295c.1_628del628p.?UnknownSoft_tissue
COSM24595c.157C>Tp.R53*Substitution - NonsenseSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM478792c.1112A>Gp.N371SSubstitution - MissenseKidney
COSM215858c.1097G>Cp.R366PSubstitution - MissenseCentral_nervous_system
COSM1009c.897G>Ap.S299SSubstitution - coding silentThyroid
COSM5642102c.1023G>Ap.R341RSubstitution - coding silentOesophagus
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM1108c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1057c.1148delCp.P383fs*>3Deletion - FrameshiftCentral_nervous_system
COSM4618174c.641C>Tp.T214MSubstitution - MissenseLarge_intestine
COSM993c.601C>Tp.R201*Substitution - NonsenseCentral_nervous_system
COSM996c.727C>Tp.Q243*Substitution - NonsenseSoft_tissue
COSM1665760c.1029delGp.G344fs*13Deletion - FrameshiftKidney
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM4166186c.?p.R377HSubstitution - MissenseBone
COSM1066c.586_587ins17p.D196fs*19Insertion - FrameshiftCentral_nervous_system
COSM1103c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM1002c.118C>Tp.R40*Substitution - NonsenseCentral_nervous_system
COSM1266243c.695C>Tp.T232MSubstitution - MissenseStomach
COSM1415171c.537C>Tp.N179NSubstitution - coding silentStomach
COSM5610646c.375C>Tp.A125ASubstitution - coding silentSkin
COSM3972885c.1129C>Tp.R377CSubstitution - MissenseLarge_intestine
COSM1101c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM4766059c.906G>Ap.G302GSubstitution - coding silentSoft_tissue
COSM1108c.?p.?UnknownCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionBone
COSM24595c.157C>Tp.R53*Substitution - NonsenseCentral_nervous_system
COSM1076c.379A>Gp.R127GSubstitution - MissenseCentral_nervous_system
COSM1092c.1158+26C>Tp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1032618c.324G>Ap.K108KSubstitution - coding silentEndometrium
COSM993c.601C>Tp.R201*Substitution - NonsenseCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM29382c.1143delGp.A382fs*5Deletion - FrameshiftCentral_nervous_system
COSM5352274c.730C>Tp.Q244*Substitution - NonsenseSoft_tissue
COSM992c.472C>Tp.R158*Substitution - NonsenseSoft_tissue
COSM1002c.118C>Tp.R40*Substitution - NonsenseCentral_nervous_system
COSM726164c.446C>Ap.T149KSubstitution - MissenseSkin
COSM1108c.?p.?UnknownSoft_tissue
COSM1032624c.755G>Tp.S252ISubstitution - MissenseEndometrium
COSM24595c.157C>Tp.R53*Substitution - NonsenseCentral_nervous_system
COSM1130488c.606C>Ap.D202ESubstitution - MissenseProstate
COSM1103c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM1004c.646G>Tp.E216*Substitution - NonsenseSoft_tissue
COSM13446c.363_628del266p.?Deletion - FrameshiftSoft_tissue
COSM992c.472C>Tp.R158*Substitution - NonsenseCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1002c.118C>Tp.R40*Substitution - NonsenseSkin
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1002c.118C>Tp.R40*Substitution - NonsenseSoft_tissue
COSM1108c.?p.?UnknownCentral_nervous_system
COSM5610648c.443C>Tp.S148FSubstitution - MissenseSkin
COSM1032622c.464G>Ap.R155HSubstitution - MissenseStomach
COSM5991516c.469G>Ap.G157SSubstitution - MissenseSkin
COSM1057c.1148delCp.P383fs*>3Deletion - FrameshiftSoft_tissue
COSM4127678c.?p.R40*Substitution - NonsenseBone
COSM1666667c.986+1G>Tp.?UnknownCentral_nervous_system
COSM989c.1130G>Ap.R377HSubstitution - MissenseMeninges
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1108c.?p.?UnknownSoft_tissue
COSM1060c.1144delGp.A382fs*4Deletion - FrameshiftCentral_nervous_system
COSM1103c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM992c.472C>Tp.R158*Substitution - NonsenseCentral_nervous_system
COSM1075c.617G>Ap.W206*Substitution - NonsenseSoft_tissue
COSM4728320c.1096C>Tp.R366CSubstitution - MissenseLarge_intestine
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM989c.1130G>Ap.R377HSubstitution - MissenseMeninges
COSM991c.141C>Ap.Y47*Substitution - NonsenseSoft_tissue
COSM27976c.430delGp.A144fs*32Deletion - FrameshiftCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM1057c.1148delCp.P383fs*>3Deletion - FrameshiftCentral_nervous_system
COSM1032620c.378G>Cp.K126NSubstitution - MissenseEndometrium
COSM217231c.602G>Tp.R201LSubstitution - MissenseLiver
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24595c.157C>Tp.R53*Substitution - NonsenseCentral_nervous_system
COSM1108c.?p.?UnknownSoft_tissue
COSM1086c.629-27G>Ap.?UnknownSoft_tissue
COSM5452882c.329T>Gp.V110GSubstitution - MissenseLarge_intestine
COSM1666914c.491_492insCCTTp.P165fs*6Insertion - FrameshiftCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM674183c.825_838del14p.D277fs*79Deletion - FrameshiftCentral_nervous_system
COSM24595c.157C>Tp.R53*Substitution - NonsenseCentral_nervous_system
COSM996c.727C>Tp.Q243*Substitution - NonsenseLarge_intestine
COSM1060c.1144delGp.A382fs*4Deletion - FrameshiftCentral_nervous_system
COSM1103c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM29495c.1145delCp.P383fs*4Deletion - FrameshiftCentral_nervous_system
COSM3552573c.885G>Ap.L295LSubstitution - coding silentSkin
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM4767768c.320A>Gp.Y107CSubstitution - MissenseBiliary_tract
COSM1083c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM4851443c.480G>Ap.K160KSubstitution - coding silentCervix
COSM3552565c.432C>Tp.A144ASubstitution - coding silentSkin
COSM1057c.1148delCp.P383fs*>3Deletion - FrameshiftCentral_nervous_system
COSM5967280c.1066_1067delCTp.L356fs*4Deletion - FrameshiftSalivary_gland
COSM183186c.237C>Tp.H79HSubstitution - coding silentEndometrium
COSM1102c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1101c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM1080c.1124_1125insGAGGCGTCp.M375fs*14Insertion - FrameshiftCentral_nervous_system
COSM1099c.628+13C>Tp.?UnknownCentral_nervous_system
COSM993c.601C>Tp.R201*Substitution - NonsenseSoft_tissue
COSM29495c.1145delCp.P383fs*4Deletion - FrameshiftSoft_tissue
COSM1002c.118C>Tp.R40*Substitution - NonsenseSoft_tissue
COSM33667c.628_629ins?p.?UnknownCentral_nervous_system
COSM1004c.646G>Tp.E216*Substitution - NonsenseSoft_tissue
COSM29495c.1145delCp.P383fs*4Deletion - FrameshiftCentral_nervous_system
COSM1005c.553_579del27p.V185_M193delDeletion - In frameCentral_nervous_system
COSM5393245c.494C>Tp.P165LSubstitution - MissenseSkin
COSM24595c.157C>Tp.R53*Substitution - NonsenseEndometrium
COSM1108c.?p.?UnknownSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM24616c.?_?del?p.?UnknownSoft_tissue
COSM27950c.585_586ins17p.D196fs*19Insertion - FrameshiftCentral_nervous_system
COSM24615c.202_203insGp.H68fs*3Insertion - FrameshiftSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM5887144c.140A>Cp.Y47SSubstitution - MissenseSkin
COSM27947c.606_607ins20p.A203fs*13Insertion - FrameshiftCentral_nervous_system
COSM5750873c.235C>Tp.H79YSubstitution - MissenseStomach
COSM4582244c.157delCp.R53fs*2Deletion - FrameshiftBone
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM997c.1102C>Tp.Q368*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1002c.118C>Tp.R40*Substitution - NonsenseCentral_nervous_system
COSM24597c.332delCp.I112fs*31Deletion - FrameshiftSoft_tissue
COSM285203c.310G>Ap.D104NSubstitution - MissenseLarge_intestine
COSM6006423c.559_560ins11p.V187fs*26Insertion - FrameshiftCentral_nervous_system
COSM989c.1130G>Ap.R377HSubstitution - MissenseBone
COSM1003c.1116G>Ap.T372TSubstitution - coding silentOvary
COSM29382c.1143delGp.A382fs*5Deletion - FrameshiftCentral_nervous_system
COSM1009c.897G>Ap.S299SSubstitution - coding silentSkin
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM1002c.118C>Tp.R40*Substitution - NonsenseCentral_nervous_system
COSM1083c.?_?del?p.?delDeletion - In frameCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM53298c.501-1G>Cp.?UnknownSoft_tissue
COSM78546c.1103A>Gp.Q368RSubstitution - MissenseOvary
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM674182c.511_512insCp.H171fs*2Insertion - FrameshiftCentral_nervous_system
COSM674156c.629-?_1158+?delp.?UnknownSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24595c.157C>Tp.R53*Substitution - NonsenseSoft_tissue
COSM6006428c.1-?_93+?del5006p.?UnknownCentral_nervous_system
COSM990c.778C>Tp.Q260*Substitution - NonsenseCentral_nervous_system
COSM5004225c.782G>Ap.R261HSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM53303c.842G>Ap.W281*Substitution - NonsenseSoft_tissue
COSM3363575c.1120C>Ap.R374RSubstitution - coding silentKidney
COSM4728314c.86G>Ap.G29DSubstitution - MissenseLarge_intestine
COSM1006c.1125_1126insGp.M375fs*12Insertion - FrameshiftMeninges
COSM1101c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM478789c.424T>Ap.L142ISubstitution - MissenseKidney
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM24595c.157C>Tp.R53*Substitution - NonsenseCentral_nervous_system
COSM29382c.1143delGp.A382fs*5Deletion - FrameshiftCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1057c.1148delCp.P383fs*>3Deletion - FrameshiftCentral_nervous_system
COSM1032628c.1029G>Ap.T343TSubstitution - coding silentEndometrium
COSM1714197c.65A>Gp.D22GSubstitution - MissenseSkin
COSM1103c.?_?del?p.?delDeletion - In frameCentral_nervous_system
COSM1093c.1158+116insGp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM5984512c.30C>Tp.F10FSubstitution - coding silentUpper_aerodigestive_tract
COSM1069c.669_670delTGp.C223fs*1Deletion - FrameshiftSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM998c.1121G>Ap.R374QSubstitution - MissensePancreas
COSM4991482c.298C>Tp.L100LSubstitution - coding silentSkin
COSM29493c.796_1158del363p.L266_*386delDeletion - In frameSoft_tissue
COSM1009c.897G>Ap.S299SSubstitution - coding silentSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1103c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM4596765c.1130G>Tp.R377LSubstitution - MissensePancreas
COSM993c.601C>Tp.R201*Substitution - NonsenseCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionBone
COSM33986c.298_299delCTp.L100fs*5Deletion - FrameshiftSoft_tissue
COSM3939577c.206G>Ap.G69DSubstitution - MissenseOesophagus
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM26906c.725G>Ap.R242KSubstitution - MissenseSkin
COSM3740370c.119G>Ap.R40QSubstitution - MissenseLiver
COSM1578552c.1041delCp.Q348fs*9Deletion - FrameshiftMeninges
COSM29382c.1143delGp.A382fs*5Deletion - FrameshiftCentral_nervous_system
COSM300998c.115_117delTTCp.F39delFDeletion - In frameLarge_intestine
COSM1632538c.575A>Gp.D192GSubstitution - MissenseLiver
COSM5967279c.351_352insCp.T118fs*52Insertion - FrameshiftSalivary_gland
COSM1053c.146C>Ap.S49*Substitution - NonsenseCentral_nervous_system
COSM999c.607G>Ap.A203TSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM993c.601C>Tp.R201*Substitution - NonsenseCentral_nervous_system
COSM1009c.897G>Ap.S299SSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM29495c.1145delCp.P383fs*4Deletion - FrameshiftCentral_nervous_system
COSM1100c.629-2A>Gp.?UnknownSoft_tissue
COSM989c.1130G>Ap.R377HSubstitution - MissenseMeninges
COSM4825337c.740C>Gp.S247CSubstitution - MissenseCervix
COSM1308001c.1110G>Tp.R370SSubstitution - MissenseUrinary_tract
COSM24616c.?_?del?p.?UnknownSoft_tissue
COSM1083c.?_?del?p.?delDeletion - In frameCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM29495c.1145delCp.P383fs*4Deletion - FrameshiftCentral_nervous_system
COSM110414c.563C>Tp.P188LSubstitution - MissenseSkin
COSM110414c.563C>Tp.P188LSubstitution - MissenseSkin
COSM6006426c.331_332insGTp.S111fs*33Insertion - FrameshiftCentral_nervous_system
COSM989c.1130G>Ap.R377HSubstitution - MissenseOesophagus
COSM991c.141C>Ap.Y47*Substitution - NonsenseSoft_tissue
COSM1064c.351delCp.P117fs*26Deletion - FrameshiftSoft_tissue
COSM327305c.1117A>Gp.R373GSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM36390c.795+2T>ATGAp.?UnknownCentral_nervous_system
COSM4103005c.357C>Tp.Y119YSubstitution - coding silentStomach
COSM998c.1121G>Ap.R374QSubstitution - MissenseOesophagus
COSM989c.1130G>Ap.R377HSubstitution - MissenseBiliary_tract
COSM1002c.118C>Tp.R40*Substitution - NonsenseCentral_nervous_system
COSM1010c.174_175delAGp.E58fs*12Deletion - FrameshiftCentral_nervous_system
COSM4849613c.475G>Ap.D159NSubstitution - MissenseCervix
COSM1103c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM989c.1130G>Ap.R377HSubstitution - MissenseStomach
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24596c.978C>Ap.Y326*Substitution - NonsenseLung
COSM1083c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM1081c.584_585insCGATGGGp.I195fs*18Insertion - FrameshiftCentral_nervous_system
COSM1089c.986+57insAAp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM5610642c.689C>Ap.P230QSubstitution - MissenseSkin
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1740720c.1117A>Tp.R373WSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4798555c.1067T>Cp.L356PSubstitution - MissenseLiver
COSM1083c.?_?del?p.?delDeletion - In frameCentral_nervous_system
COSM3309715c.602G>Ap.R201QSubstitution - MissenseOvary
COSM1103c.?_?del?p.?delDeletion - In frameCentral_nervous_system
COSM1083c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM1058c.843G>Ap.W281*Substitution - NonsenseCentral_nervous_system
COSM24598c.711delCp.I237fs*30Deletion - FrameshiftCentral_nervous_system
COSM1002c.118C>Tp.R40*Substitution - NonsenseSkin
COSM5991514c.614C>Tp.T205ISubstitution - MissenseSkin
COSM1077c.545delAp.Q182fs*27Deletion - FrameshiftCentral_nervous_system
COSM1003c.1116G>Ap.T372TSubstitution - coding silentSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM53293c.629_986del358p.?UnknownCentral_nervous_system
COSM1032622c.464G>Ap.R155HSubstitution - MissenseEndometrium
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1002c.118C>Tp.R40*Substitution - NonsenseCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM992c.472C>Tp.R158*Substitution - NonsenseSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM29495c.1145delCp.P383fs*4Deletion - FrameshiftCentral_nervous_system
COSM53297c.565_566ins13p.I189fs*26Insertion - FrameshiftCentral_nervous_system
COSM4774844c.987_1158del172p.?UnknownSoft_tissue
COSM6006424c.582_583ins13p.I195fs*20Insertion - FrameshiftCentral_nervous_system
COSM1103c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM1083c.?_?del?p.?delDeletion - In frameCentral_nervous_system
COSM26409c.12_13insATGp.M4_A5insMInsertion - In frameSoft_tissue
COSM1057c.1148delCp.P383fs*>3Deletion - FrameshiftCentral_nervous_system
COSM27946c.132_133insTGTACp.K45fs*12Insertion - FrameshiftCentral_nervous_system
COSM1057c.1148delCp.P383fs*>3Deletion - FrameshiftCentral_nervous_system
COSM108375c.548C>Tp.P183LSubstitution - MissenseSkin
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM1002c.118C>Tp.R40*Substitution - NonsenseCentral_nervous_system
COSM1106c.1-126A>Cp.?UnknownSoft_tissue
COSM993c.601C>Tp.R201*Substitution - NonsenseCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM95256c.979G>Ap.A327TSubstitution - MissenseLung
COSM726164c.446C>Ap.T149KSubstitution - MissenseLung
COSM1133055c.501_628del128p.?UnknownCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM27276c.385_398del14p.S129fs*36Deletion - FrameshiftBone
COSM998c.1121G>Ap.R374QSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM997c.1102C>Tp.Q368*Substitution - NonsenseKidney
COSM36389c.933_934insATp.A312fs*9Insertion - FrameshiftCentral_nervous_system
COSM1103c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM994c.618G>Ap.W206*Substitution - NonsenseCentral_nervous_system
COSM1103c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM993c.601C>Tp.R201*Substitution - NonsenseCentral_nervous_system
COSM992c.472C>Tp.R158*Substitution - NonsenseSoft_tissue
COSM183186c.237C>Tp.H79HSubstitution - coding silentStomach
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1169663c.243C>Gp.Y81*Substitution - NonsenseBone
COSM24595c.157C>Tp.R53*Substitution - NonsenseSoft_tissue
COSM5569528c.695C>Gp.T232RSubstitution - MissenseProstate
COSM1108c.?p.?UnknownCentral_nervous_system
COSM107362c.562C>Tp.P188SSubstitution - MissenseSkin
COSM5707608c.1087A>Tp.K363*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1108c.?p.?UnknownSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1070c.631A>Tp.K211*Substitution - NonsenseSoft_tissue
COSM1057c.1148delCp.P383fs*>3Deletion - FrameshiftCentral_nervous_system
COSM1058c.843G>Ap.W281*Substitution - NonsenseSoft_tissue
COSM1067c.108_126del19p.L36fs*13Deletion - FrameshiftSoft_tissue
COSM24595c.157C>Tp.R53*Substitution - NonsenseCentral_nervous_system
COSM3309692c.208delAp.T72fs*13Deletion - FrameshiftLarge_intestine
COSM5443776c.36G>Ap.Q12QSubstitution - coding silentOesophagus
COSM53301c.346_346delCp.T118fs*25Deletion - FrameshiftSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM4166186c.?p.R377HSubstitution - MissenseBone
COSM4500563c.568C>Tp.R190WSubstitution - MissenseSkin
COSM298967c.696G>Ap.T232TSubstitution - coding silentLarge_intestine
COSM1103c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM989c.1130G>Ap.R377HSubstitution - MissenseStomach
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM29495c.1145delCp.P383fs*4Deletion - FrameshiftCentral_nervous_system
COSM1415176c.606C>Tp.D202DSubstitution - coding silentLarge_intestine
COSM33666c.986_987ins?p.?UnknownCentral_nervous_system
COSM1057c.1148delCp.P383fs*>3Deletion - FrameshiftCentral_nervous_system
COSM3842289c.91G>Ap.E31KSubstitution - MissenseBreast
COSM1065c.950delGp.G317fs*3Deletion - FrameshiftSoft_tissue
COSM5452947c.326_327CT>GAp.A109GSubstitution - MissenseLarge_intestine
COSM1004c.646G>Tp.E216*Substitution - NonsenseSoft_tissue
COSM1104c.233-1G>Cp.?UnknownCentral_nervous_system
COSM1007c.543_544delTCp.S181fs*29Deletion - FrameshiftSoft_tissue
COSM3309728c.1109G>Tp.R370MSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1099c.628+13C>Tp.?UnknownCentral_nervous_system
COSM53304c.146_147ins25p.?fsInsertion - FrameshiftSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM3390128c.498T>Cp.L166LSubstitution - coding silentPancreas
COSM1032616c.281C>Tp.S94LSubstitution - MissenseEndometrium
COSM1002c.118C>Tp.R40*Substitution - NonsenseSkin
COSM5574330c.1142C>Gp.T381RSubstitution - MissenseCentral_nervous_system
COSM998c.1121G>Ap.R374QSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1103c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM13445c.629_795del167p.E210fs*15Deletion - FrameshiftSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1002c.118C>Tp.R40*Substitution - NonsenseSoft_tissue
COSM51387c.796_986del191p.?UnknownCentral_nervous_system
COSM4766058c.689C>Tp.P230LSubstitution - MissenseSoft_tissue
COSM1063c.189_196delAGTTGCATp.I63fs*5Deletion - FrameshiftSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM993c.601C>Tp.R201*Substitution - NonsenseCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1002c.118C>Tp.R40*Substitution - NonsenseCentral_nervous_system
COSM24617c.1_628del628p.?UnknownCentral_nervous_system
COSM993c.601C>Tp.R201*Substitution - NonsenseSoft_tissue
COSM33806c.769C>Tp.Q257*Substitution - NonsenseSoft_tissue
COSM989c.1130G>Ap.R377HSubstitution - MissenseMeninges
COSM29382c.1143delGp.A382fs*5Deletion - FrameshiftCentral_nervous_system
COSM993c.601C>Tp.R201*Substitution - NonsenseLarge_intestine
COSM1226776c.934G>Ap.A312TSubstitution - MissensePancreas
COSM4624608c.1141A>Gp.T381ASubstitution - MissenseLarge_intestine
COSM1103c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM990c.778C>Tp.Q260*Substitution - NonsenseCentral_nervous_system
COSM997c.1102C>Tp.Q368*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM3424066c.988G>Ap.E330KSubstitution - MissenseLarge_intestine
COSM183186c.237C>Tp.H79HSubstitution - coding silentStomach
COSM1085c.629-1G>Ap.?UnknownCentral_nervous_system
COSM5057721c.1115C>Tp.T372MSubstitution - MissenseStomach
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM1226778c.1120C>Tp.R374WSubstitution - MissenseLarge_intestine
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM5046903c.712G>Ap.A238TSubstitution - MissenseLiver
COSM990c.778C>Tp.Q260*Substitution - NonsenseSoft_tissue
COSM1180929c.1085_1087delAGAp.K364delKDeletion - In frameLarge_intestine
COSM992c.472C>Tp.R158*Substitution - NonsenseCentral_nervous_system
COSM1108c.?p.?UnknownSoft_tissue
COSM3552569c.821C>Tp.S274FSubstitution - MissenseSkin
COSM4774843c.233_1158del926p.?UnknownSoft_tissue
COSM996c.727C>Tp.Q243*Substitution - NonsenseSoft_tissue
COSM4766060c.961T>Ap.W321RSubstitution - MissenseSoft_tissue
COSM1666914c.491_492insCCTTp.P165fs*6Insertion - FrameshiftCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1415171c.537C>Tp.N179NSubstitution - coding silentStomach
COSM1009c.897G>Ap.S299SSubstitution - coding silentSoft_tissue
COSM1059c.916G>Tp.E306*Substitution - NonsenseCentral_nervous_system
COSM992c.472C>Tp.R158*Substitution - NonsenseCentral_nervous_system
COSM3972885c.1129C>Tp.R377CSubstitution - MissenseLarge_intestine
COSM992c.472C>Tp.R158*Substitution - NonsenseSkin
COSM3693968c.473G>Ap.R158QSubstitution - MissenseLarge_intestine
COSM1065c.950delGp.G317fs*3Deletion - FrameshiftSoft_tissue
COSM29386c.796_986del191p.?UnknownSoft_tissue
COSM5015713c.1090A>Tp.K364*Substitution - NonsenseKidney
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1061c.352_353insAp.T118fs*52Insertion - FrameshiftCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM369675c.246G>Cp.T82TSubstitution - coding silentLung
COSM24598c.711delCp.I237fs*30Deletion - FrameshiftCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM3800073c.24G>Cp.K8NSubstitution - MissenseUrinary_tract
COSM1062c.139_143delTACCCp.Y47fs*22Deletion - FrameshiftSoft_tissue
COSM1004c.646G>Tp.E216*Substitution - NonsenseSoft_tissue
COSM13446c.363_628del266p.?Deletion - FrameshiftSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM29495c.1145delCp.P383fs*4Deletion - FrameshiftCentral_nervous_system
COSM4798555c.1067T>Cp.L356PSubstitution - MissenseLiver
COSM53302c.847_848delATp.M283fs*77Deletion - FrameshiftCentral_nervous_system
COSM992c.472C>Tp.R158*Substitution - NonsenseCentral_nervous_system
COSM5991515c.1132C>Tp.L378FSubstitution - MissenseSkin
COSM1074c.564_565insATCCGGCp.P188fs*24Insertion - FrameshiftSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM1632538c.575A>Gp.D192GSubstitution - MissenseLiver
COSM992c.472C>Tp.R158*Substitution - NonsenseSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM116157c.1051C>Tp.P351SSubstitution - MissenseOvary
COSM1107c.1158+1delCp.?UnknownCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1103c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM1009c.897G>Ap.S299SSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM5452880c.322A>Cp.K108QSubstitution - MissenseLarge_intestine
COSM993c.601C>Tp.R201*Substitution - NonsenseCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1060c.1144delGp.A382fs*4Deletion - FrameshiftCentral_nervous_system
COSM989c.1130G>Ap.R377HSubstitution - MissenseLarge_intestine
COSM1002c.118C>Tp.R40*Substitution - NonsenseSoft_tissue
COSM29386c.796_986del191p.?UnknownCentral_nervous_system
COSM4766062c.147_150delACTCp.L50fs*4Deletion - FrameshiftSoft_tissue
COSM1083c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM144160c.1147_1147delCp.P383fsDeletion - FrameshiftCentral_nervous_system
COSM4991484c.663C>Tp.I221ISubstitution - coding silentSkin
COSM1108c.?p.?UnknownCentral_nervous_system
COSM1009c.897G>Ap.S299SSubstitution - coding silentSoft_tissue
COSM1664271c.550G>Ap.E184KSubstitution - MissenseKidney
COSM4103007c.919T>Gp.F307VSubstitution - MissenseStomach
COSM1103c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM1008c.454A>Gp.N152DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM989c.1130G>Ap.R377HSubstitution - MissenseMeninges
COSM1009c.897G>Ap.S299SSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM1057c.1148delCp.P383fs*>3Deletion - FrameshiftCentral_nervous_system
COSM27978c.243_244ins?p.?fsInsertion - FrameshiftBone
COSM6006363c.463C>Tp.R155CSubstitution - MissenseSkin
COSM24617c.1_628del628p.?UnknownSoft_tissue
COSM997c.1102C>Tp.Q368*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1057c.1148delCp.P383fs*>3Deletion - FrameshiftCentral_nervous_system
COSM1090c.1119-41G>Ap.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1000c.1022G>Tp.R341LSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM29493c.796_1158del363p.L266_*386delDeletion - In frameCentral_nervous_system
COSM993c.601C>Tp.R201*Substitution - NonsenseLarge_intestine
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM1415161c.158G>Ap.R53QSubstitution - MissenseLarge_intestine
COSM1083c.?_?del?p.?delDeletion - In frameCentral_nervous_system
COSM6006425c.585_586ins43p.D196fs*29Insertion - FrameshiftCentral_nervous_system
COSM1108c.?p.?UnknownCentral_nervous_system
COSM4172275c.273delAp.A93fs*50Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM24595c.157C>Tp.R53*Substitution - NonsenseCentral_nervous_system
COSM292094c.836T>Gp.F279CSubstitution - MissenseLarge_intestine
COSM1103c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM1009c.897G>Ap.S299SSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM3552571c.822C>Tp.S274SSubstitution - coding silentSkin
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1088c.1-65C>Tp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM21423c.118delCp.R40fs*15Deletion - FrameshiftCentral_nervous_system
COSM1089c.986+57insAAp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM108464c.549C>Tp.P183PSubstitution - coding silentSkin
COSM217231c.602G>Tp.R201LSubstitution - MissenseLiver
COSM1133057c.?_?del?p.?UnknownCentral_nervous_system
COSM993c.601C>Tp.R201*Substitution - NonsenseCentral_nervous_system
COSM1057c.1148delCp.P383fs*>3Deletion - FrameshiftCentral_nervous_system
COSM1009c.897G>Ap.S299SSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1072c.142C>Tp.P48SSubstitution - MissenseSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1082c.177_178ins28p.E59fs*20Insertion - FrameshiftSoft_tissue
COSM1083c.?_?del?p.?delDeletion - In frameCentral_nervous_system
COSM1108c.?p.?UnknownCentral_nervous_system
COSM36388c.324_325insGp.A109fs*61Insertion - FrameshiftCentral_nervous_system
COSM1093c.1158+116insGp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM29387c.629_1158del530p.?UnknownCentral_nervous_system
COSM1057c.1148delCp.P383fs*>3Deletion - FrameshiftSoft_tissue
COSM1057c.1148delCp.P383fs*>3Deletion - FrameshiftCentral_nervous_system
COSM1226778c.1120C>Tp.R374WSubstitution - MissenseLarge_intestine
COSM1032626c.781C>Tp.R261CSubstitution - MissenseLarge_intestine
COSM24614c.286_287insCp.V96fs*10Insertion - FrameshiftSoft_tissue
COSM1103c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM308350c.?p.?UnknownCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM5393251c.913G>Ap.G305RSubstitution - MissenseSkin
COSM27949c.564_565ins14p.I189fs*25Insertion - FrameshiftCentral_nervous_system
COSM5393247c.749C>Tp.T250MSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1133057c.?_?del?p.?UnknownSalivary_gland
COSM992c.472C>Tp.R158*Substitution - NonsenseCentral_nervous_system
COSM1415171c.537C>Tp.N179NSubstitution - coding silentLarge_intestine
COSM29382c.1143delGp.A382fs*5Deletion - FrameshiftCentral_nervous_system
COSM3972885c.1129C>Tp.R377CSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM27977c.1130delGp.R377fs*10Deletion - FrameshiftCentral_nervous_system
COSM29383c.546_547insCATCTCAGp.P183fs*29Insertion - FrameshiftCentral_nervous_system
COSM51386c.566_567ins19p.L191fs*26Insertion - FrameshiftCentral_nervous_system
COSM4728316c.744delCp.T250fs*17Deletion - FrameshiftLarge_intestine
COSM3552567c.620A>Gp.N207SSubstitution - MissenseSkin
COSM4849576c.629-3C>Tp.?UnknownCervix
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM991c.141C>Ap.Y47*Substitution - NonsenseSoft_tissue
COSM994c.618G>Ap.W206*Substitution - NonsenseCentral_nervous_system
COSM1103c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM4103003c.238G>Ap.G80RSubstitution - MissenseStomach
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1103c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1057c.1148delCp.P383fs*>3Deletion - FrameshiftCentral_nervous_system
COSM5610644c.239G>Ap.G80ESubstitution - MissenseSkin
COSM1089c.986+57insAAp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM993c.601C>Tp.R201*Substitution - NonsenseCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM993c.601C>Tp.R201*Substitution - NonsenseCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM29495c.1145delCp.P383fs*4Deletion - FrameshiftCentral_nervous_system
COSM1103c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM4596765c.1130G>Tp.R377LSubstitution - MissenseUpper_aerodigestive_tract
COSM29384c.356_360delACCTCp.Y119fs*1Deletion - FrameshiftSoft_tissue
COSM1075c.617G>Ap.W206*Substitution - NonsenseCentral_nervous_system
COSM998c.1121G>Ap.R374QSubstitution - MissenseSkin
COSM1002c.118C>Tp.R40*Substitution - NonsenseSoft_tissue
COSM1097c.?del?p.?fsDeletion - FrameshiftSoft_tissue
COSM29382c.1143delGp.A382fs*5Deletion - FrameshiftCentral_nervous_system
COSM1098c.?del?p.?fsDeletion - FrameshiftSoft_tissue
COSM997c.1102C>Tp.Q368*Substitution - NonsenseSkin
COSM5046903c.712G>Ap.A238TSubstitution - MissenseOesophagus
COSM1079c.691_692ins19p.L231fs*56Insertion - FrameshiftCentral_nervous_system
COSM1009c.897G>Ap.S299SSubstitution - coding silentSoft_tissue
COSM1053c.146C>Ap.S49*Substitution - NonsenseProstate
COSM993c.601C>Tp.R201*Substitution - NonsenseCentral_nervous_system
COSM110414c.563C>Tp.P188LSubstitution - MissenseSkin
COSM5731551c.146C>Gp.S49*Substitution - NonsenseCentral_nervous_system
COSM255201c.197_198insAp.S67fs*4Insertion - FrameshiftSoft_tissue
COSM989c.1130G>Ap.R377HSubstitution - MissenseSmall_intestine
COSM29385c.425T>Gp.L142*Substitution - NonsenseCentral_nervous_system
COSM53300c.556_557insGAGGTGCp.L186fs*27Insertion - FrameshiftSoft_tissue
COSM1054c.869delCp.P290fs*6Deletion - FrameshiftSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM3785510c.226A>Gp.T76ASubstitution - MissensePancreas
COSM26906c.725G>Ap.R242KSubstitution - MissenseSkin
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM1001c.517C>Tp.P173SSubstitution - MissenseSoft_tissue
COSM1169665c.1_362del362p.?UnknownSoft_tissue
COSM1133056c.1_986del986p.?UnknownCentral_nervous_system
COSM24596c.978C>Ap.Y326*Substitution - NonsenseCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM4127678c.?p.R40*Substitution - NonsenseBone
COSM1068c.354delCp.T118fs*25Deletion - FrameshiftSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1083c.?_?del?p.?delDeletion - In frameCentral_nervous_system
COSM995c.138_139insTACCp.R46fs*25Insertion - FrameshiftCentral_nervous_system
COSM13446c.363_628del266p.?Deletion - FrameshiftSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1002c.118C>Tp.R40*Substitution - NonsenseCentral_nervous_system
COSM4774845c.528_528delCp.H177fs*32Deletion - FrameshiftSoft_tissue
COSM4500563c.568C>Tp.R190WSubstitution - MissenseSkin
COSM53296c.774_775ins13p.D259fs*26Insertion - FrameshiftSoft_tissue
COSM1055c.793A>Tp.K265*Substitution - NonsenseCentral_nervous_system
COSM991c.141C>Ap.Y47*Substitution - NonsenseSoft_tissue
COSM53295c.1_628del628p.?UnknownSoft_tissue
COSM24617c.1_628del628p.?UnknownSoft_tissue
COSM1071c.838G>Tp.E280*Substitution - NonsenseSoft_tissue
COSM993c.601C>Tp.R201*Substitution - NonsenseCentral_nervous_system
COSM1161417c.1126A>Gp.R376GSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM76526c.784G>Ap.V262ISubstitution - MissenseBreast
COSM1094c.1158+145C>Ap.?UnknownHaematopoietic_and_lymphoid_tissue
COSM6006422c.726_727delACp.Q243fs*37Deletion - FrameshiftCentral_nervous_system
COSM1060c.1144delGp.A382fs*4Deletion - FrameshiftCentral_nervous_system
COSM1103c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM4971706c.726_729delACAGp.R242fs*24Deletion - FrameshiftCentral_nervous_system
COSM5991513c.1148C>Tp.P383LSubstitution - MissenseSkin
COSM4767768c.320A>Gp.Y107CSubstitution - MissenseBiliary_tract
COSM5731549c.628+2T>Gp.?UnknownCentral_nervous_system
COSM993c.601C>Tp.R201*Substitution - NonsenseCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM4766061c.178_179delAGp.R60fs*10Deletion - FrameshiftSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM51386c.566_567ins19p.L191fs*26Insertion - FrameshiftSoft_tissue
COSM993c.601C>Tp.R201*Substitution - NonsenseSoft_tissue
COSM1226776c.934G>Ap.A312TSubstitution - MissenseStomach
COSM4832131c.52C>Tp.Q18*Substitution - NonsenseCervix
COSM76526c.784G>Ap.V262ISubstitution - MissenseOvary
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1169665c.1_362del362p.?UnknownSoft_tissue
COSM3964140c.855G>Cp.E285DSubstitution - MissenseLung
COSM1009c.897G>Ap.S299SSubstitution - coding silentSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM991c.141C>Ap.Y47*Substitution - NonsenseCentral_nervous_system
COSM1004c.646G>Tp.E216*Substitution - NonsenseSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1065c.950delGp.G317fs*3Deletion - FrameshiftEndometrium
COSM27948c.564_565insGGTCCCCp.I189fs*24Insertion - FrameshiftCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM998c.1121G>Ap.R374QSubstitution - MissenseLarge_intestine
COSM1090c.1119-41G>Ap.?UnknownHaematopoietic_and_lymphoid_tissue
COSM989c.1130G>Ap.R377HSubstitution - MissenseStomach
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM1002c.118C>Tp.R40*Substitution - NonsenseSoft_tissue
COSM3972885c.1129C>Tp.R377CSubstitution - MissenseCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM1083c.?_?del?p.?delDeletion - In frameCentral_nervous_system
COSM29855c.?_?del?p.?UnknownSoft_tissue
COSM29495c.1145delCp.P383fs*4Deletion - FrameshiftCentral_nervous_system
COSM1415163c.197C>Tp.S66LSubstitution - MissenseLarge_intestine
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1087c.?del?p.?fsDeletion - FrameshiftSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM29382c.1143delGp.A382fs*5Deletion - FrameshiftCentral_nervous_system
COSM217231c.602G>Tp.R201LSubstitution - MissenseLiver
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM3693968c.473G>Ap.R158QSubstitution - MissenseLarge_intestine
COSM4952317c.276A>Cp.K92NSubstitution - MissenseLiver
COSM1057c.1148delCp.P383fs*>3Deletion - FrameshiftCentral_nervous_system
COSM4596765c.1130G>Tp.R377LSubstitution - MissensePancreas
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM1078c.153G>Ap.W51*Substitution - NonsenseCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM29387c.629_1158del530p.?UnknownCentral_nervous_system
COSM53297c.565_566ins13p.I189fs*26Insertion - FrameshiftCentral_nervous_system
COSM4728318c.783C>Tp.R261RSubstitution - coding silentLarge_intestine
COSM993c.601C>Tp.R201*Substitution - NonsenseCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1083c.?_?del?p.?delDeletion - In frameSoft_tissue
COSM29495c.1145delCp.P383fs*4Deletion - FrameshiftCentral_nervous_system
COSM1105c.1-405G>Ap.?UnknownSoft_tissue
COSM5576339c.796-?_1118+?delp.?UnknownCentral_nervous_system
COSM5151215c.804C>Tp.I268ISubstitution - coding silentSkin
COSM1073c.851C>Tp.S284LSubstitution - MissenseSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM327307c.864C>Ap.N288KSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM21959c.346C>Ap.P116TSubstitution - MissensePancreas
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM1226776c.934G>Ap.A312TSubstitution - MissenseLarge_intestine
COSM1091c.1119-38insAp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4952317c.276A>Cp.K92NSubstitution - MissenseLiver
COSM1056c.252_253insAp.L84fs*21Insertion - FrameshiftCentral_nervous_system
COSM1087c.?del?p.?fsDeletion - FrameshiftSoft_tissue
COSM989c.1130G>Ap.R377HSubstitution - MissenseBone
COSM110414c.563C>Tp.P188LSubstitution - MissenseKidney
COSM1307999c.775G>Ap.D259NSubstitution - MissenseUrinary_tract
COSM991c.141C>Ap.Y47*Substitution - NonsenseSoft_tissue
COSM29382c.1143delGp.A382fs*5Deletion - FrameshiftCentral_nervous_system
COSM4991480c.127C>Tp.L43LSubstitution - coding silentSkin
COSM993c.601C>Tp.R201*Substitution - NonsenseCentral_nervous_system
COSM140296c.325G>Ap.A109TSubstitution - MissenseSkin
COSM1032626c.781C>Tp.R261CSubstitution - MissenseEndometrium
COSM24599c.749_750insCp.D251fs*30Insertion - FrameshiftSoft_tissue
COSM36391c.569_570ins18p.?UnknownCentral_nervous_system
COSM3972885c.1129C>Tp.R377CSubstitution - MissenseLung
COSM5393247c.749C>Tp.T250MSubstitution - MissenseSkin
COSM5393249c.760C>Tp.L254LSubstitution - coding silentSkin
COSM674155c.363-?_628+?delp.?UnknownSoft_tissue
COSM24619c.1_1158del1158p.0?Whole gene deletionSoft_tissue
COSM29382c.1143delGp.A382fs*5Deletion - FrameshiftCentral_nervous_system
COSM1004c.646G>Tp.E216*Substitution - NonsenseSoft_tissue
COSM26410c.1051_1054delCCACp.P351fs*5Deletion - FrameshiftSoft_tissue
COSM24595c.157C>Tp.R53*Substitution - NonsenseSoft_tissue
COSM29382c.1143delGp.A382fs*5Deletion - FrameshiftCentral_nervous_system
COSM53294c.323_323delAp.K108fs*35Deletion - FrameshiftCentral_nervous_system
COSM992c.472C>Tp.R158*Substitution - NonsenseCentral_nervous_system
COSM24619c.1_1158del1158p.0?Whole gene deletionCentral_nervous_system
COSM3363573c.786C>Ap.V262VSubstitution - coding silentKidney
COSM3309709c.510C>Tp.D170DSubstitution - coding silentSoft_tissue
> Text Mining based Variations
 
PMID Variation Cancer Evidence
27326246MutationNeuroendocrine CarcinomaCommon aberrations were as follows: SMARCB1 mutation (n=2), TP53 mutation (n=2), STK11 mutation (n=1), RET mutation (n=1), and BRAF mutation (n=1).
26799435MutationRenal Cell CarcinomaWe identified a duplication of exon 7 of SMARCB1 on chromosome 22 in the constitutional DNA of the patient (c.796-2246_986 + 5250dup7686), resulting in the generation of a premature stop codon in the second exon 7 copy (p.Glu330*). Immunohistochemical staining with a SMARCB1 antibody revealed a mosaic SMARCB1 expression pattern in the three benign schwannomas, but absence of expression in the malignant tumor cells of the pRCC1.
27356182Loss of expression; MutationHepatoblastomaAll but 1 of the 23 tumors showed loss of INI1 protein expression by immunohistochemistry. Nineteen of the INI1 negative tumors were analyzed by FISH technique and all showed a deletion of the INI1/SMARCB1 gene (17 homozygous deletions, 2 heterozygous deletions).
21108436MutationRhaboid TumoursThirty-five of 100 patients were found to have a germline SMARCB1 abnormality. These abnormalities included point and frameshift mutations, intragenic deletions and duplications, and larger deletions including regions both proximal and distal to SMARCB1.
Summary
SymbolSMARCB1
NameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Aliases BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ......
Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Post-translational modification (PTM)
> Post-translational modification (PTM)
 
 Filter By:
Uniprot ID Position Amino Acid Description Upstream Enzyme Affected By Mutation Amino Acid Sequence Variant
Summary
SymbolSMARCB1
NameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Aliases BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ......
Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Expression analysis in primary tumor tissue from TCGA
> Expression level in cancer cell line from CCLE
> Expression level in human normal tissue from HPA
> Text mining based expression change
> The Cancer Genome Atlas (TCGA)
 


  Differential expression analysis for cancers with more than 10 normal samples
Cancer Full Name # N # T Median (N) Median (T) LogFC Adj. P Status
BLCABladder urothelial carcinoma194086.2426.610.5277.48e-05NS
BRCABreast invasive carcinoma11211005.7356.2340.5543.35e-25NS
CESCCervical and endocervical cancers33066.2116.624NANANA
COADColon adenocarcinoma414596.3416.5290.1910.00602NS
ESCAEsophageal carcinoma111855.576.1090.4550.0254NS
GBMGlioblastoma multiforme51666.366.644NANANA
HNSCHead and Neck squamous cell carcinoma445226.0946.3690.3645.34e-08NS
KIRCKidney renal clear cell carcinoma725345.9946.1530.150.00142NS
KIRPKidney renal papillary cell carcinoma322916.2066.4540.2070.0207NS
LAMLAcute Myeloid Leukemia0173NA6.062NANANA
LGGBrain Lower Grade Glioma0530NA6.832NANANA
LIHCLiver hepatocellular carcinoma503735.0665.3970.3953.89e-06NS
LUADLung adenocarcinoma595175.6776.170.4883.12e-15NS
LUSCLung squamous cell carcinoma515015.8096.8261.073.73e-37Over
OVOvarian serous cystadenocarcinoma0307NA6.54NANANA
PAADPancreatic adenocarcinoma41796.3836.183NANANA
PCPGPheochromocytoma and Paraganglioma31846.3746.162NANANA
PRADProstate adenocarcinoma524986.2676.3930.160.000989NS
READRectum adenocarcinoma101676.2576.5450.2550.107NS
SARCSarcoma22636.1446.388NANANA
SKCMSkin Cutaneous Melanoma14726.686.58NANANA
STADStomach adenocarcinoma354156.2456.178-0.0370.716NS
TGCTTesticular Germ Cell Tumors0156NA7.172NANANA
THCAThyroid carcinoma595096.1826.540.2664.65e-08NS
THYMThymoma21206.7917.236NANANA
UCECUterine Corpus Endometrial Carcinoma355466.5797.010.4393.09e-06NS
> Cancer Cell Line Encyclopedia (CCLE)
 



Tissue Cell Line Expression Level (Microarray)
Autonomic ganglia CHP126 9.4
Autonomic ganglia CHP212 9.6
Autonomic ganglia IMR32 9.7
Autonomic ganglia KELLY 10.3
Autonomic ganglia KPNRTBM1 9.8
Autonomic ganglia KPNSI9S 8.5
Autonomic ganglia KPNYN 9.7
Autonomic ganglia MHHNB11 9.8
Autonomic ganglia NB1 9.6
Autonomic ganglia NH6 9.4
Autonomic ganglia SHSY5Y 9.8
Autonomic ganglia SIMA 9.9
Autonomic ganglia SKNAS 9.6
Autonomic ganglia SKNBE2 9.6
Autonomic ganglia SKNDZ 9.9
Autonomic ganglia SKNFI 9.1
Autonomic ganglia SKNSH 8.9
Biliary tract HUCCT1 8.8
Biliary tract HUH28 8.4
Biliary tract SNU1079 8.5
Biliary tract SNU1196 9.4
Biliary tract SNU245 9.7
Biliary tract SNU308 9.1
Biliary tract SNU478 9.6
Bone 143B 9.3
Bone A673 9.9
Bone CADOES1 9.6
Bone CAL78 10.2
Bone G292CLONEA141B1 9.8
Bone HOS 8.9
Bone HS706T 8.6
Bone HS737T 8.6
Bone HS819T 8.3
Bone HS821T 8.6
Bone HS822T 8.6
Bone HS863T 8.9
Bone HS870T 8.5
Bone HS888T 8.8
Bone MG63 9.1
Bone MHHES1 8.9
Bone OUMS27 8.6
Bone RDES 9.4
Bone SJSA1 9.7
Bone SKES1 9.7
Bone SKNMC 10
Bone SW1353 8.6
Bone T173 8.4
Bone TC71 9.5
Bone U2OS 10.3
Breast AU565 9.5
Breast BT20 9.3
Breast BT474 9.2
Breast BT483 8.3
Breast BT549 9.9
Breast CAL120 8.4
Breast CAL148 8.5
Breast CAL51 9.8
Breast CAL851 9.2
Breast CAMA1 9
Breast DU4475 9
Breast EFM192A 9
Breast EFM19 9.1
Breast EVSAT 10
Breast HCC1143 9.9
Breast HCC1187 9
Breast HCC1395 10.5
Breast HCC1419 9
Breast HCC1428 8.5
Breast HCC1500 9
Breast HCC1569 10.2
Breast HCC1599 9.4
Breast HCC1806 8.8
Breast HCC1937 9.2
Breast HCC1954 9
Breast HCC202 8.4
Breast HCC2157 9
Breast HCC2218 8.5
Breast HCC38 10.1
Breast HCC70 9.2
Breast HDQP1 8.5
Breast HMC18 4.8
Breast HS274T 8.9
Breast HS281T 8.9
Breast HS343T 8.7
Breast HS578T 9.7
Breast HS606T 8.5
Breast HS739T 8.6
Breast HS742T 7.9
Breast JIMT1 9.1
Breast KPL1 8.9
Breast MCF7 9.2
Breast MDAMB134VI 9.4
Breast MDAMB157 9.8
Breast MDAMB175VII 8.8
Breast MDAMB231 9.1
Breast MDAMB361 9.6
Breast MDAMB415 9.4
Breast MDAMB436 8.7
Breast MDAMB453 10.5
Breast MDAMB468 10.2
Breast SKBR3 9.3
Breast T47D 8.4
Breast UACC812 9
Breast UACC893 8.2
Breast YMB1 9.1
Breast ZR751 8.7
Breast ZR7530 8.9
Central nervous system 1321N1 8.6
Central nervous system 42MGBA 9.2
Central nervous system 8MGBA 8.6
Central nervous system A172 8.6
Central nervous system AM38 8.3
Central nervous system BECKER 9.1
Central nervous system CAS1 9.2
Central nervous system CCFSTTG1 9.4
Central nervous system D283MED 9.7
Central nervous system D341MED 9.3
Central nervous system DAOY 9.5
Central nervous system DBTRG05MG 9.2
Central nervous system DKMG 8.3
Central nervous system GAMG 8.3
Central nervous system GB1 10.7
Central nervous system GI1 9.5
Central nervous system GMS10 8.7
Central nervous system GOS3 8.3
Central nervous system H4 8.6
Central nervous system HS683 8.9
Central nervous system KALS1 9
Central nervous system KG1C 7.9
Central nervous system KNS42 10.2
Central nervous system KNS60 9.2
Central nervous system KNS81 7.5
Central nervous system KS1 9.1
Central nervous system LN18 9.4
Central nervous system LN229 9
Central nervous system M059K 9
Central nervous system MOGGCCM 9.3
Central nervous system MOGGUVW 8.9
Central nervous system NMCG1 8.8
Central nervous system ONS76 9.3
Central nervous system SF126 9.2
Central nervous system SF295 9.6
Central nervous system SNB19 8.9
Central nervous system SNU1105 9.3
Central nervous system SNU201 8.4
Central nervous system SNU466 9.3
Central nervous system SNU489 9.3
Central nervous system SNU626 7.8
Central nervous system SNU738 9.2
Central nervous system SW1088 9.3
Central nervous system SW1783 8.9
Central nervous system T98G 9.5
Central nervous system TM31 8.9
Central nervous system U118MG 9.6
Central nervous system U138MG 8.9
Central nervous system U251MG 8.4
Central nervous system U87MG 9.8
Central nervous system YH13 9.2
Central nervous system YKG1 8.5
Endometrium AN3CA 9.5
Endometrium COLO684 10.7
Endometrium EFE184 9.4
Endometrium EN 8.9
Endometrium ESS1 8.9
Endometrium HEC108 9.2
Endometrium HEC151 9.1
Endometrium HEC1A 9.2
Endometrium HEC1B 9
Endometrium HEC251 8.6
Endometrium HEC265 8.7
Endometrium HEC50B 8.8
Endometrium HEC59 9.3
Endometrium HEC6 8.9
Endometrium ISHIKAWAHERAKLIO02ER 8.6
Endometrium JHUEM1 9.5
Endometrium JHUEM2 8.9
Endometrium JHUEM3 9.3
Endometrium KLE 8.9
Endometrium MFE280 9.5
Endometrium MFE296 10.1
Endometrium MFE319 8.5
Endometrium RL952 9.2
Endometrium SNGM 9.5
Endometrium SNU1077 8.9
Endometrium SNU685 9.9
Endometrium TEN 8.9
Haematopoietic and lymphoid 697 10
Haematopoietic and lymphoid A3KAW 8.9
Haematopoietic and lymphoid A4FUK 8.8
Haematopoietic and lymphoid ALLSIL 9.8
Haematopoietic and lymphoid AML193 9
Haematopoietic and lymphoid AMO1 9.6
Haematopoietic and lymphoid BCP1 9.6
Haematopoietic and lymphoid BDCM 9.6
Haematopoietic and lymphoid BL41 10.8
Haematopoietic and lymphoid BL70 10.6
Haematopoietic and lymphoid BV173 10.2
Haematopoietic and lymphoid CA46 11.5
Haematopoietic and lymphoid CI1 9.5
Haematopoietic and lymphoid CMK115 9.2
Haematopoietic and lymphoid CMK86 10.1
Haematopoietic and lymphoid CMK 9.8
Haematopoietic and lymphoid CMLT1 9.8
Haematopoietic and lymphoid COLO775 10
Haematopoietic and lymphoid DAUDI 10
Haematopoietic and lymphoid DB 11.1
Haematopoietic and lymphoid DEL 8.8
Haematopoietic and lymphoid DND41 10.1
Haematopoietic and lymphoid DOHH2 11.8
Haematopoietic and lymphoid EB1 9.8
Haematopoietic and lymphoid EB2 10.2
Haematopoietic and lymphoid EHEB 8.8
Haematopoietic and lymphoid EJM 7.8
Haematopoietic and lymphoid EM2 9.2
Haematopoietic and lymphoid EOL1 9.3
Haematopoietic and lymphoid F36P 9.5
Haematopoietic and lymphoid GA10 10.7
Haematopoietic and lymphoid GDM1 9.9
Haematopoietic and lymphoid GRANTA519 10.6
Haematopoietic and lymphoid HDLM2 8.8
Haematopoietic and lymphoid HDMYZ 9
Haematopoietic and lymphoid HEL9217 8.9
Haematopoietic and lymphoid HEL 9.1
Haematopoietic and lymphoid HH 9.4
Haematopoietic and lymphoid HL60 9.9
Haematopoietic and lymphoid HPBALL 9.6
Haematopoietic and lymphoid HS604T 9.2
Haematopoietic and lymphoid HS611T 9.6
Haematopoietic and lymphoid HS616T 8.9
Haematopoietic and lymphoid HS751T 8.2
Haematopoietic and lymphoid HT 11.1
Haematopoietic and lymphoid HTK 10.2
Haematopoietic and lymphoid HUNS1 8.9
Haematopoietic and lymphoid HUT102 8.9
Haematopoietic and lymphoid HUT78 9.4
Haematopoietic and lymphoid JEKO1 11.4
Haematopoietic and lymphoid JK1 8.9
Haematopoietic and lymphoid JM1 10.3
Haematopoietic and lymphoid JURKAT 9.1
Haematopoietic and lymphoid JURLMK1 9.4
Haematopoietic and lymphoid JVM2 9.5
Haematopoietic and lymphoid JVM3 9.8
Haematopoietic and lymphoid K562 9.5
Haematopoietic and lymphoid KARPAS299 8.8
Haematopoietic and lymphoid KARPAS422 11.4
Haematopoietic and lymphoid KARPAS620 9.8
Haematopoietic and lymphoid KASUMI1 9
Haematopoietic and lymphoid KASUMI2 9.8
Haematopoietic and lymphoid KASUMI6 9.7
Haematopoietic and lymphoid KCL22 9.6
Haematopoietic and lymphoid KE37 9.6
Haematopoietic and lymphoid KE97 8.8
Haematopoietic and lymphoid KG1 9.6
Haematopoietic and lymphoid KHM1B 8.7
Haematopoietic and lymphoid KIJK 9.1
Haematopoietic and lymphoid KMH2 9.9
Haematopoietic and lymphoid KMM1 9.1
Haematopoietic and lymphoid KMS11 9.2
Haematopoietic and lymphoid KMS12BM 10.2
Haematopoietic and lymphoid KMS18 8.6
Haematopoietic and lymphoid KMS20 8.9
Haematopoietic and lymphoid KMS21BM 8.5
Haematopoietic and lymphoid KMS26 9.6
Haematopoietic and lymphoid KMS27 9
Haematopoietic and lymphoid KMS28BM 8.2
Haematopoietic and lymphoid KMS34 8
Haematopoietic and lymphoid KO52 9
Haematopoietic and lymphoid KOPN8 11.6
Haematopoietic and lymphoid KU812 9.4
Haematopoietic and lymphoid KYO1 9.5
Haematopoietic and lymphoid L1236 9
Haematopoietic and lymphoid L363 8.7
Haematopoietic and lymphoid L428 8.4
Haematopoietic and lymphoid L540 8.9
Haematopoietic and lymphoid LAMA84 9.1
Haematopoietic and lymphoid LOUCY 9.7
Haematopoietic and lymphoid LP1 9
Haematopoietic and lymphoid M07E 9.6
Haematopoietic and lymphoid MC116 10.8
Haematopoietic and lymphoid ME1 10
Haematopoietic and lymphoid MEC1 8.8
Haematopoietic and lymphoid MEC2 10
Haematopoietic and lymphoid MEG01 8.9
Haematopoietic and lymphoid MHHCALL2 10
Haematopoietic and lymphoid MHHCALL3 10.1
Haematopoietic and lymphoid MHHCALL4 10.3
Haematopoietic and lymphoid MINO 10.5
Haematopoietic and lymphoid MJ 9.8
Haematopoietic and lymphoid MM1S 9.7
Haematopoietic and lymphoid MOLM13 10.1
Haematopoietic and lymphoid MOLM16 9.5
Haematopoietic and lymphoid MOLM6 9.1
Haematopoietic and lymphoid MOLP2 8.9
Haematopoietic and lymphoid MOLP8 8.2
Haematopoietic and lymphoid MOLT13 9.7
Haematopoietic and lymphoid MOLT16 9.3
Haematopoietic and lymphoid MOLT4 9.9
Haematopoietic and lymphoid MONOMAC1 8.9
Haematopoietic and lymphoid MONOMAC6 8.4
Haematopoietic and lymphoid MOTN1 9
Haematopoietic and lymphoid MUTZ5 10
Haematopoietic and lymphoid MV411 10.5
Haematopoietic and lymphoid NALM19 10.3
Haematopoietic and lymphoid NALM1 9.9
Haematopoietic and lymphoid NALM6 10.4
Haematopoietic and lymphoid NAMALWA 10.7
Haematopoietic and lymphoid NB4 9.4
Haematopoietic and lymphoid NCIH929 8.8
Haematopoietic and lymphoid NCO2 8.4
Haematopoietic and lymphoid NOMO1 9.3
Haematopoietic and lymphoid NUDHL1 9.9
Haematopoietic and lymphoid NUDUL1 9.8
Haematopoietic and lymphoid OCIAML2 9.2
Haematopoietic and lymphoid OCIAML3 9.3
Haematopoietic and lymphoid OCIAML5 9.3
Haematopoietic and lymphoid OCILY10 11.3
Haematopoietic and lymphoid OCILY19 10.2
Haematopoietic and lymphoid OCILY3 10.3
Haematopoietic and lymphoid OCIM1 9.9
Haematopoietic and lymphoid OPM2 8.9
Haematopoietic and lymphoid P12ICHIKAWA 9.7
Haematopoietic and lymphoid P31FUJ 8.9
Haematopoietic and lymphoid P3HR1 9.4
Haematopoietic and lymphoid PCM6 8.9
Haematopoietic and lymphoid PEER 10.3
Haematopoietic and lymphoid PF382 9.2
Haematopoietic and lymphoid PFEIFFER 9.9
Haematopoietic and lymphoid PL21 9.1
Haematopoietic and lymphoid RAJI 9.5
Haematopoietic and lymphoid RCHACV 9.3
Haematopoietic and lymphoid REC1 9.9
Haematopoietic and lymphoid REH 10.1
Haematopoietic and lymphoid RI1 11
Haematopoietic and lymphoid RL 11.7
Haematopoietic and lymphoid RPMI8226 9.2
Haematopoietic and lymphoid RPMI8402 9.8
Haematopoietic and lymphoid RS411 10.5
Haematopoietic and lymphoid SEM 10.2
Haematopoietic and lymphoid SET2 9.5
Haematopoietic and lymphoid SIGM5 9.3
Haematopoietic and lymphoid SKM1 9.2
Haematopoietic and lymphoid SKMM2 8.6
Haematopoietic and lymphoid SR786 8.9
Haematopoietic and lymphoid ST486 10
Haematopoietic and lymphoid SUDHL10 11.3
Haematopoietic and lymphoid SUDHL1 8.9
Haematopoietic and lymphoid SUDHL4 11.5
Haematopoietic and lymphoid SUDHL5 10.7
Haematopoietic and lymphoid SUDHL6 10.9
Haematopoietic and lymphoid SUDHL8 9.7
Haematopoietic and lymphoid SUPB15 10
Haematopoietic and lymphoid SUPHD1 8.3
Haematopoietic and lymphoid SUPM2 8.4
Haematopoietic and lymphoid SUPT11 9.5
Haematopoietic and lymphoid SUPT1 9.7
Haematopoietic and lymphoid TALL1 9.7
Haematopoietic and lymphoid TF1 8.7
Haematopoietic and lymphoid THP1 8.6
Haematopoietic and lymphoid TO175T 8.6
Haematopoietic and lymphoid TOLEDO 9.3
Haematopoietic and lymphoid U266B1 9.1
Haematopoietic and lymphoid U937 9
Haematopoietic and lymphoid UT7 8.7
Haematopoietic and lymphoid WSUDLCL2 11
Kidney 769P 9.4
Kidney 786O 9.6
Kidney A498 8.5
Kidney A704 7.7
Kidney ACHN 8.5
Kidney BFTC909 8.4
Kidney CAKI1 7.6
Kidney CAKI2 10.1
Kidney CAL54 8.9
Kidney KMRC1 8.7
Kidney KMRC20 8.3
Kidney KMRC2 9.6
Kidney KMRC3 8.4
Kidney OSRC2 8.8
Kidney RCC10RGB 8.8
Kidney SNU1272 8.5
Kidney SNU349 9.2
Kidney TUHR10TKB 7.9
Kidney TUHR14TKB 8.3
Kidney TUHR4TKB 8.4
Kidney VMRCRCW 8.5
Kidney VMRCRCZ 8.9
Large intestine C2BBE1 9.4
Large intestine CCK81 10.3
Large intestine CL11 8.7
Large intestine CL14 8.8
Large intestine CL34 8.8
Large intestine CL40 9.4
Large intestine COLO205 8.7
Large intestine COLO320 9.6
Large intestine COLO678 8.2
Large intestine CW2 9.6
Large intestine DLD1 9.3
Large intestine GP2D 9.2
Large intestine HCC56 8.7
Large intestine HCT116 9.7
Large intestine HCT15 9.7
Large intestine HS675T 8.8
Large intestine HS698T 8.9
Large intestine HT115 9
Large intestine HT29 9.7
Large intestine HT55 8.3
Large intestine KM12 10
Large intestine LOVO 9
Large intestine LS1034 8.7
Large intestine LS123 8.4
Large intestine LS180 9.2
Large intestine LS411N 9.3
Large intestine LS513 8.6
Large intestine MDST8 9.2
Large intestine NCIH508 8.5
Large intestine NCIH716 9
Large intestine NCIH747 8.3
Large intestine OUMS23 8.7
Large intestine RCM1 8.6
Large intestine RKO 8.4
Large intestine SKCO1 10.5
Large intestine SNU1040 9.6
Large intestine SNU1197 8.8
Large intestine SNU175 8.9
Large intestine SNU283 8.7
Large intestine SNU407 8.7
Large intestine SNU503 9.8
Large intestine SNU61 8.9
Large intestine SNU81 9.8
Large intestine SNUC1 8.9
Large intestine SNUC2A 8.1
Large intestine SNUC4 9.1
Large intestine SNUC5 9.1
Large intestine SW1116 8.6
Large intestine SW1417 9.6
Large intestine SW1463 9.2
Large intestine SW403 8.7
Large intestine SW480 8.8
Large intestine SW48 9.1
Large intestine SW620 9.7
Large intestine SW837 9.2
Large intestine SW948 8.6
Large intestine T84 9.4
Liver ALEXANDERCELLS 8
Liver C3A 8.9
Liver HEP3B217 9.5
Liver HEPG2 9.6
Liver HLE 8.3
Liver HLF 9.2
Liver HUH1 9
Liver HUH6 9.2
Liver HUH7 9.5
Liver JHH1 10
Liver JHH2 9.8
Liver JHH4 9.5
Liver JHH5 9.7
Liver JHH6 8.5
Liver JHH7 10.4
Liver LI7 8.6
Liver PLCPRF5 8.6
Liver SKHEP1 8.8
Liver SNU182 9.1
Liver SNU387 9.4
Liver SNU398 10.5
Liver SNU423 9.2
Liver SNU449 8.9
Liver SNU475 9.5
Liver SNU761 9
Liver SNU878 9.1
Liver SNU886 9.8
Lung A549 8.9
Lung ABC1 9.9
Lung BEN 8.7
Lung CAL12T 8.6
Lung CALU1 9.6
Lung CALU3 9
Lung CALU6 8.9
Lung CHAGOK1 8.9
Lung COLO668 10.1
Lung COLO699 9.4
Lung CORL105 7.8
Lung CORL23 9
Lung CORL24 9
Lung CORL279 10.4
Lung CORL311 9.5
Lung CORL47 9.5
Lung CORL51 9.1
Lung CORL88 8.7
Lung CORL95 9.1
Lung CPCN 9.4
Lung DMS114 9.3
Lung DMS153 9.3
Lung DMS273 8.9
Lung DMS454 8.5
Lung DMS53 7.7
Lung DMS79 9.1
Lung DV90 8.9
Lung EBC1 8.8
Lung EPLC272H 9.7
Lung HARA 9.7
Lung HCC1171 8.4
Lung HCC1195 9.4
Lung HCC15 8.7
Lung HCC2279 8.9
Lung HCC2935 9.4
Lung HCC33 9.5
Lung HCC366 8.2
Lung HCC4006 8.3
Lung HCC44 8.9
Lung HCC78 8.5
Lung HCC827 8.3
Lung HCC95 8.7
Lung HLC1 5.5
Lung HLFA 8.5
Lung HS229T 9
Lung HS618T 8.3
Lung IALM 8.7
Lung KNS62 8.8
Lung LC1F 8.6
Lung LC1SQSF 8.4
Lung LCLC103H 7.6
Lung LCLC97TM1 8.7
Lung LK2 9.7
Lung LOUNH91 9.6
Lung LU65 8.8
Lung LU99 8.8
Lung LUDLU1 8.3
Lung LXF289 8.5
Lung MORCPR 9.6
Lung NCIH1048 9.7
Lung NCIH1092 9.1
Lung NCIH1105 9.1
Lung NCIH1155 9.7
Lung NCIH1184 9.2
Lung NCIH1299 10.2
Lung NCIH1339 8.4
Lung NCIH1341 9.5
Lung NCIH1355 9.2
Lung NCIH1373 9
Lung NCIH1385 8.8
Lung NCIH1395 8.8
Lung NCIH1435 9.7
Lung NCIH1436 9.3
Lung NCIH1437 9.4
Lung NCIH146 9.5
Lung NCIH1563 9.1
Lung NCIH1568 9.3
Lung NCIH1573 8.8
Lung NCIH1581 9
Lung NCIH1618 9.8
Lung NCIH1623 8.8
Lung NCIH1648 8.5
Lung NCIH1650 9.4
Lung NCIH1651 8.7
Lung NCIH1666 7.8
Lung NCIH1693 8.7
Lung NCIH1694 9
Lung NCIH1703 9.3
Lung NCIH1734 8.5
Lung NCIH1755 8.6
Lung NCIH1781 9
Lung NCIH1792 9.4
Lung NCIH1793 9.1
Lung NCIH1836 10.3
Lung NCIH1838 8.9
Lung NCIH1869 9.6
Lung NCIH1876 8.9
Lung NCIH1915 9.5
Lung NCIH1930 9.7
Lung NCIH1944 8.7
Lung NCIH1963 10.1
Lung NCIH196 8.8
Lung NCIH1975 9.5
Lung NCIH2009 9.4
Lung NCIH2023 8.5
Lung NCIH2029 9.4
Lung NCIH2030 9
Lung NCIH2066 9.9
Lung NCIH2081 8.6
Lung NCIH2085 10.4
Lung NCIH2087 8.7
Lung NCIH209 10.1
Lung NCIH2106 10.3
Lung NCIH2110 7.8
Lung NCIH211 10.2
Lung NCIH2122 9.2
Lung NCIH2126 7.6
Lung NCIH2141 9.4
Lung NCIH2170 10.4
Lung NCIH2171 10
Lung NCIH2172 8.7
Lung NCIH2196 8.8
Lung NCIH2227 8.4
Lung NCIH2228 8.7
Lung NCIH226 8.3
Lung NCIH2286 10.7
Lung NCIH2291 8.6
Lung NCIH2342 9.3
Lung NCIH2347 9.1
Lung NCIH23 9.3
Lung NCIH2405 8.9
Lung NCIH2444 9.7
Lung NCIH292 8.3
Lung NCIH322 8.7
Lung NCIH3255 10.1
Lung NCIH358 9.5
Lung NCIH441 9
Lung NCIH446 10.6
Lung NCIH460 8.7
Lung NCIH510 9
Lung NCIH520 9.7
Lung NCIH522 9.1
Lung NCIH524 9.4
Lung NCIH526 10.2
Lung NCIH596 8.6
Lung NCIH647 9.5
Lung NCIH650 9.2
Lung NCIH661 8.9
Lung NCIH69 9.9
Lung NCIH727 9.5
Lung NCIH810 10
Lung NCIH82 9.7
Lung NCIH838 8.8
Lung NCIH841 9.1
Lung NCIH854 9.2
Lung NCIH889 10.8
Lung PC14 9
Lung RERFLCAD1 8.4
Lung RERFLCAD2 8.9
Lung RERFLCAI 9.1
Lung RERFLCKJ 8.2
Lung RERFLCMS 9.1
Lung RERFLCSQ1 9.1
Lung SBC5 9.7
Lung SCLC21H 10.4
Lung SHP77 9.2
Lung SKLU1 9.1
Lung SKMES1 8.6
Lung SQ1 9.5
Lung SW1271 9.2
Lung SW1573 6.2
Lung SW900 9.4
Lung VMRCLCD 9.8
Lung VMRCLCP 9.2
Oesophagus COLO680N 9
Oesophagus ECGI10 9.2
Oesophagus KYSE140 9.7
Oesophagus KYSE150 9.7
Oesophagus KYSE180 9.2
Oesophagus KYSE270 9.6
Oesophagus KYSE30 9.4
Oesophagus KYSE410 8.9
Oesophagus KYSE450 8.9
Oesophagus KYSE510 9.8
Oesophagus KYSE520 10.6
Oesophagus KYSE70 9.5
Oesophagus OE19 9.9
Oesophagus OE33 8.3
Oesophagus TE10 9.6
Oesophagus TE11 9.2
Oesophagus TE14 8.8
Oesophagus TE15 9.3
Oesophagus TE1 10.7
Oesophagus TE4 9.6
Oesophagus TE5 7.5
Oesophagus TE6 9.1
Oesophagus TE8 9.4
Oesophagus TE9 9.7
Oesophagus TT 8.2
Ovary 59M 10.1
Ovary A2780 9.6
Ovary CAOV3 11.1
Ovary CAOV4 9
Ovary COLO704 10
Ovary COV318 9.1
Ovary COV362 8.4
Ovary COV434 8.7
Ovary COV504 8.1
Ovary COV644 8
Ovary EFO21 9.4
Ovary EFO27 9.5
Ovary ES2 9.1
Ovary FUOV1 9.2
Ovary HEYA8 9.3
Ovary HS571T 9.2
Ovary IGROV1 9.7
Ovary JHOC5 8.8
Ovary JHOM1 8.8
Ovary JHOM2B 7.9
Ovary JHOS2 8.5
Ovary JHOS4 8.8
Ovary KURAMOCHI 9.7
Ovary MCAS 9.3
Ovary NIHOVCAR3 9.7
Ovary OAW28 8.5
Ovary OAW42 9.4
Ovary OC314 8.8
Ovary OC316 8.7
Ovary ONCODG1 9
Ovary OV56 8.3
Ovary OV7 8.8
Ovary OV90 9.8
Ovary OVCAR4 9.2
Ovary OVCAR8 8.6
Ovary OVISE 8.9
Ovary OVK18 9.4
Ovary OVKATE 7.6
Ovary OVMANA 8.8
Ovary OVSAHO 9.1
Ovary OVTOKO 9.5
Ovary RMGI 10.7
Ovary RMUGS 8.8
Ovary SKOV3 9.6
Ovary SNU119 9.4
Ovary SNU840 8.9
Ovary SNU8 8.7
Ovary TOV112D 10.3
Ovary TOV21G 9.4
Ovary TYKNU 9
Pancreas ASPC1 8.5
Pancreas BXPC3 8.9
Pancreas CAPAN1 9.3
Pancreas CAPAN2 8.5
Pancreas CFPAC1 9.1
Pancreas DANG 9.1
Pancreas HPAC 9.1
Pancreas HPAFII 9.1
Pancreas HS766T 9.3
Pancreas HUPT3 8.6
Pancreas HUPT4 9.5
Pancreas KCIMOH1 9.2
Pancreas KLM1 9.8
Pancreas KP2 9.1
Pancreas KP3 7.8
Pancreas KP4 9.2
Pancreas L33 9.1
Pancreas MIAPACA2 10.3
Pancreas PANC0203 8.6
Pancreas PANC0213 7.6
Pancreas PANC0327 9.5
Pancreas PANC0403 9.1
Pancreas PANC0504 9.2
Pancreas PANC0813 8.4
Pancreas PANC1005 8.8
Pancreas PANC1 8.6
Pancreas PATU8902 9.6
Pancreas PATU8988S 8.5
Pancreas PATU8988T 9.7
Pancreas PK1 9.3
Pancreas PK45H 8.5
Pancreas PK59 9
Pancreas PL45 8.1
Pancreas PSN1 9.1
Pancreas QGP1 8.5
Pancreas SNU213 8.6
Pancreas SNU324 8.9
Pancreas SNU410 8.6
Pancreas SU8686 8.9
Pancreas SUIT2 8.6
Pancreas SW1990 9.4
Pancreas T3M4 8.5
Pancreas TCCPAN2 9.5
Pancreas YAPC 8.6
Pleura ACCMESO1 8.5
Pleura DM3 8.7
Pleura ISTMES1 8.6
Pleura ISTMES2 8.9
Pleura JL1 8.4
Pleura MPP89 9
Pleura MSTO211H 8.9
Pleura NCIH2052 9
Pleura NCIH2452 8.6
Pleura NCIH28 8.9
Prostate 22RV1 9.1
Prostate DU145 8.9
Prostate LNCAPCLONEFGC 8.9
Prostate MDAPCA2B 9
Prostate NCIH660 8.8
Prostate PC3 9.1
Prostate VCAP 9.2
Salivary gland A253 9
Salivary gland YD15 9.2
Skin A101D 9.3
Skin A2058 9.5
Skin A375 10
Skin C32 8.7
Skin CHL1 9.6
Skin CJM 8.3
Skin COLO679 8.4
Skin COLO741 8.8
Skin COLO783 8.6
Skin COLO792 8.6
Skin COLO800 9.4
Skin COLO818 9.4
Skin COLO829 9.2
Skin COLO849 9.9
Skin G361 8.6
Skin GRM 9.8
Skin HMCB 9.3
Skin HS294T 9.9
Skin HS600T 8.5
Skin HS688AT 8.9
Skin HS695T 9.7
Skin HS839T 8.7
Skin HS852T 9.4
Skin HS895T 8.1
Skin HS934T 8.7
Skin HS936T 8.2
Skin HS939T 8.6
Skin HS940T 8.8
Skin HS944T 10.1
Skin HT144 9.2
Skin IGR1 8.9
Skin IGR37 9.7
Skin IGR39 9.2
Skin IPC298 9.5
Skin K029AX 8.8
Skin LOXIMVI 9.3
Skin MALME3M 8.8
Skin MDAMB435S 9.2
Skin MELHO 9.8
Skin MELJUSO 9.9
Skin MEWO 8.3
Skin RPMI7951 8.9
Skin RVH421 8.9
Skin SH4 8
Skin SKMEL1 8.7
Skin SKMEL24 9.1
Skin SKMEL28 9.2
Skin SKMEL2 9.2
Skin SKMEL30 9.1
Skin SKMEL31 8.7
Skin SKMEL3 9.3
Skin SKMEL5 9.7
Skin UACC257 9.8
Skin UACC62 9.3
Skin WM115 9.5
Skin WM1799 8.7
Skin WM2664 9.6
Skin WM793 8.5
Skin WM88 8.7
Skin WM983B 9.1
Small intestine HUTU80 9.5
Soft tissue A204 5.7
Soft tissue G401 5.3
Soft tissue G402 5.4
Soft tissue GCT 8.7
Soft tissue HS729 8.9
Soft tissue HT1080 9
Soft tissue KYM1 5.1
Soft tissue MESSA 9.7
Soft tissue RD 9.1
Soft tissue RH30 10.4
Soft tissue RH41 9.2
Soft tissue RKN 8.7
Soft tissue S117 8.7
Soft tissue SJRH30 10.1
Soft tissue SKLMS1 8.9
Soft tissue SKUT1 9.3
Soft tissue TE125T 8.2
Soft tissue TE159T 8.3
Soft tissue TE441T 10
Soft tissue TE617T 9.7
Stomach 2313287 9.2
Stomach AGS 9.3
Stomach AZ521 9.5
Stomach ECC10 8.3
Stomach ECC12 9.2
Stomach FU97 10.4
Stomach GCIY 8.5
Stomach GSS 9.1
Stomach GSU 8.2
Stomach HGC27 9
Stomach HS746T 8.6
Stomach HUG1N 8.8
Stomach IM95 9.3
Stomach KATOIII 9.3
Stomach KE39 8.7
Stomach LMSU 8.8
Stomach MKN1 7.8
Stomach MKN45 8.5
Stomach MKN74 8.6
Stomach MKN7 9.8
Stomach NCCSTCK140 9.8
Stomach NCIN87 9.5
Stomach NUGC2 9.4
Stomach NUGC3 9.4
Stomach NUGC4 8.2
Stomach OCUM1 9.4
Stomach RERFGC1B 9
Stomach SH10TC 8.8
Stomach SNU16 9.8
Stomach SNU1 9.9
Stomach SNU216 9.5
Stomach SNU520 8.5
Stomach SNU5 9.1
Stomach SNU601 10
Stomach SNU620 8.8
Stomach SNU668 9.1
Stomach SNU719 9.9
Stomach TGBC11TKB 8.9
Thyroid 8305C 9.2
Thyroid 8505C 8.7
Thyroid BCPAP 8.6
Thyroid BHT101 8.1
Thyroid CAL62 9.1
Thyroid CGTHW1 9.2
Thyroid FTC133 9
Thyroid FTC238 8.8
Thyroid ML1 8.8
Thyroid SW579 10.5
Thyroid TT2609C02 8.6
Thyroid TT 8.9
Upper aerodigestive tract BHY 8.6
Upper aerodigestive tract BICR16 9.3
Upper aerodigestive tract BICR18 9.6
Upper aerodigestive tract BICR22 8.7
Upper aerodigestive tract BICR31 8.9
Upper aerodigestive tract BICR56 8.6
Upper aerodigestive tract BICR6 8.6
Upper aerodigestive tract CAL27 9.2
Upper aerodigestive tract CAL33 9.7
Upper aerodigestive tract DETROIT562 9.3
Upper aerodigestive tract FADU 9.1
Upper aerodigestive tract HS840T 8.6
Upper aerodigestive tract HSC2 8.7
Upper aerodigestive tract HSC3 9.4
Upper aerodigestive tract HSC4 8.3
Upper aerodigestive tract PECAPJ15 8.4
Upper aerodigestive tract PECAPJ34CLONEC12 8.6
Upper aerodigestive tract PECAPJ41CLONED2 9
Upper aerodigestive tract PECAPJ49 9.1
Upper aerodigestive tract SCC15 8.8
Upper aerodigestive tract SCC25 8.6
Upper aerodigestive tract SCC4 8.7
Upper aerodigestive tract SCC9 8.4
Upper aerodigestive tract SNU1076 8.1
Upper aerodigestive tract SNU1214 8.9
Upper aerodigestive tract SNU46 9.6
Upper aerodigestive tract SNU899 8.8
Upper aerodigestive tract YD10B 8.8
Upper aerodigestive tract YD38 8.4
Upper aerodigestive tract YD8 9.3
Urinary tract 5637 9.9
Urinary tract 639V 10.6
Urinary tract 647V 8.8
Urinary tract BC3C 9.1
Urinary tract BFTC905 9.3
Urinary tract CAL29 8.6
Urinary tract HS172T 8.2
Urinary tract HT1197 9.1
Urinary tract HT1376 8.9
Urinary tract J82 9.3
Urinary tract JMSU1 9.5
Urinary tract KMBC2 8.4
Urinary tract KU1919 9.1
Urinary tract RT11284 9
Urinary tract RT112 10
Urinary tract RT4 9.6
Urinary tract SCABER 9
Urinary tract SW1710 9
Urinary tract SW780 8.7
Urinary tract T24 9.4
Urinary tract TCCSUP 9.6
Urinary tract UMUC1 10.3
Urinary tract UMUC3 8.7
Urinary tract VMCUB1 8.8
> The Human Protein Atlas (HPA)
 


Tissue Expression Level (TPM)
Adipose tissue 17.4
Adrenal gland 23.4
Appendix 34.8
Bone marrow 17.9
Breast 18.4
Cerebral cortex 35.5
Cervix, uterine 32.1
Colon 24.2
Duodenum 20.2
Endometrium 42
Epididymis 21.2
Esophagus 20.6
Fallopian tube 40
Gallbladder 22
Heart muscle 12.5
Kidney 17.3
Liver 7
Lung 20.9
Lymph node 43.8
Ovary 41
Pancreas 3.5
Parathyroid gland 34.6
Placenta 28.7
Prostate 25.9
Rectum 23.3
Salivary gland 9.2
Seminal vesicle 21.9
Skeletal muscle 7.9
Skin 24.3
Small intestine 21
Smooth muscle 31.4
Spleen 28.2
Stomach 18.1
Testis 51.2
Thyroid gland 30.7
Tonsil 38.9
Urinary bladder 22.8
> Text Mining based Expression
 
PMID Expression Cancer Evidence
25007146Loss of expressionSinonasal CarcinomaNine of 142 (6%) primary sinonasal carcinomas showed loss of SMARCB1 expression by immunohistochemistry.
25007146Loss of expressionSquamous Cell CarcinomaFluorescence in situ hybridization analysis revealed SMARCB1 deletions in 6 of 8 (75%) carcinomas
27656868underexpression; Loss of expressionEndometrial CarcinomaSMARCB1 was intact in 26 of 17 (96%) and lost in 1 of 27 (4%) cases.
27339451Loss of expressionUrothelial CarcinomaSMARCA2 was most frequently lost (six) followed by ARID1A (four), SMARCB1/INI1 (two), SMARCA4 (one), and SMARCC1 (one).
27184481Loss of expressionColorectal CarcinomaGlobal or focal INI1 loss was strongly associated with higher histological grade, larger tumor size and poor overall survival (P<.001).
27177850Loss of expressionSinonasal CarcinomaA diagnosis of metastatic myoepithelial carcinoma was made; however, retrospectively, the surgical excision showed loss of the SMARCB1 (INI-1) tumor suppressor gene by immunohistochemistry.
26743474Loss of expressionEndometrial CarcinomaCombining the results from the index and the expansion set, 15 of 30 (50%) of the dedifferentiated carcinomas examined showed either concurrent SMARCA4 and SMARCA2 loss (37%) or concurrent SMARCB1 and SMARCA2 loss (13%) in the undifferentiated component.
26551623Loss of expressionGastrointestinal CarcinomaSMARCA2 loss was isolated in 5 cases and coexisted with lost SMARCB1 in 5 cases (all 5 SMARCB1-deficient tumors showed loss of SMARCA2 as well).
26520417UnderexpressionSynovial SarcomaReduced expression of SMARCB1 immunoreactivity was therefore found to be highly sensitive and specific for synovial sarcoma, and can be useful for rapidly and accurately confirming the diagnosis of synovial sarcoma
26407663UnderexpressionSinonasal CarcinomaAmong these, four tumors of the sinonasal tract were found to be SMARCB1 (INI1) deficient and were reclassified as SMARCB1 (INI1)-deficient sinonasal carcinomas.
25912315underexpression; Loss of expressionSynovial SarcomaINI1 expression was 'weak to absent' in 60/68 (88.2%) SSs; in 1/3 atypical ossifying fibromyxoid tumours (AOFMTs) and in 3/10 (30%) malignant peripheral nerve sheath tumours (MPNSTs) of various types.
25651469underexpression; Loss of expressionMyoepithelial CarcinomaAll tested cases showed partial or complete SMARCB1 deletions (homozygous: 9 cases; heterozygous: 3 cases).
25602794Loss of expressionEpithelioid Malignant Peripheral Nerve Sheath TumorINI1 expression was lost in 67% of tumors examined (35/52).
25496315Loss of expressionMalignant Rhaboid TumourComplete loss of SMARCB1, SMARCA2 and PBRM1 expression and corresponding mutations in the same genes were observed in all cases.
25208989Loss of expressionEpithiloid SarcomaLoss of INI1 was demonstrated in 10 of the 13 classic ES cases and 5 of the 7 proximal-type ES cases.
25200863Loss of expressionEpithiloid SarcomaOf the 23 ES cases, 19 (82.6%) showed a loss of PBRM1, and 18 (78.3%), a loss of INI1.
25103069Loss of expressionPancreatic CarcinomaNuclear SMARCB1 (INI1) expression was lost in 4 out of 14 cases (28%), representing all 4 tumors of the monomorphic anaplastic subtype.
27356182Loss of expression; MutationHepatoblastomaAll but 1 of the 23 tumors showed loss of INI1 protein expression by immunohistochemistry. Nineteen of the INI1 negative tumors were analyzed by FISH technique and all showed a deletion of the INI1/SMARCB1 gene (17 homozygous deletions, 2 heterozygous deletions).
24131748UnderexpressionSynovial SarcomaHalf of the monophasic synovial sarcomas expressed CK7, CK19 or panCK in a rare positive cells pattern, 8/9 (89%) expressed EMA, and all were SOX10 immunonegative with reduced but variable BAF47 expression.
24075062Loss of expressionEpitheloid Tumour; Extrarenal Rhaboid Tumour; Myoepithelial Tumour; Synovial SarcomaOut of 128 tumors, INI1/SMARCB1 staining was completely lacking in cases of ES (23/27) (85.1%), ERRTs (4/4) (100%), myoepithelial tumors (4/14) (28.5%) and in (1/16) (6.2%) cases of SS.
23348212Loss of expressionRenal Medullary CarcinomaAbsence of SMARCB1 protein expression in tumor cells was demonstrated in all of the 7 cases analyzed.
23060122Loss of expressionEpithiloid SarcomaThese results confirm the high frequency of SMARCB1 deletions in epithelioid sarcoma and show that multiplex ligation-dependent probe amplification is a reliable method for detection of deletions in these cases, which can be performed on formalin-fixed, paraffin-embedded tissue.
22490415UnderexpressionGastric CarcinomaINI1 expression levels were lower in gastric carcinoma compared with adjacent control normal tissues.
21613800UnderexpressionGastrointestinal CarcinomaImmunohistochemically, the INI1 expression was focally reduced in 17/27 (63%) cases, and the INI1 protein level and INI1 mRNA level were each correlated with the presence of 22q11.23 LOH.
20932739Loss of expressionEpithiloid SarcomaWe identified loss of SMARCB1 protein expression in the majority of ES cases (25/40, 62.5%), including 24/34 (71%) adult cases but only 1/6 (17%) paediatric/adolescent cases (p=0.02, two-tailed Fisher's exact test).
20305614UnderexpressionSynovial SarcomaThe results have shown that 66 of the 95 synovial sarcoma cases (69%) had reduced SMARCB1/INI1 protein expression, whereas the remaining 29 cases (31%) and all 30 spindle cell sarcomas showed preserved this protein expression.
28291122Loss of expressionSinonasal CarcinomaImmunohistochemical loss of SMARCB1 (INI1) expression was confirmed for all 39 tumors.
Summary
SymbolSMARCB1
NameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Aliases BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ......
Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Somatic copy number alteration in primary tomur tissue
> The Cancer Genome Atlas (TCGA)
 


  Correlation between expression and SCNA as well as percentage of patients in different status.
Cancer Full Name # Sample R P % Loss % Neutral % Gain Status
BLCABladder urothelial carcinoma4040.6514.82e-5034.94619.1Loss
BRCABreast invasive carcinoma10750.6081.11e-10942.745.112.2Loss
CESCCervical and endocervical cancers2920.5924.73e-2921.266.812Neutral
COADColon adenocarcinoma4490.491.79e-283363.53.6Neutral
ESCAEsophageal carcinoma1830.6411.51e-2238.342.619.1Loss
GBMGlioblastoma multiforme1470.669.75e-203457.18.8Loss
HNSCHead and Neck squamous cell carcinoma5140.6231.43e-5613.462.623.9Neutral
KIRCKidney renal clear cell carcinoma5250.2591.63e-097.684.87.6Neutral
KIRPKidney renal papillary cell carcinoma2880.5037.49e-2021.576.71.7Neutral
LAMLAcute Myeloid Leukemia1660.2740.0003531.292.86Neutral
LGGBrain Lower Grade Glioma5130.4683.24e-2910.9845.1Neutral
LIHCLiver hepatocellular carcinoma3640.4793.07e-2221.764.813.5Neutral
LUADLung adenocarcinoma5120.5911.63e-4939.344.915.8Loss
LUSCLung squamous cell carcinoma4980.7031.59e-7517.132.950Gain
OVOvarian serous cystadenocarcinoma3000.7093.88e-4767.32012.7Loss
PAADPancreatic adenocarcinoma1770.4694.79e-1124.971.83.4Neutral
PCPGPheochromocytoma and Paraganglioma1620.733.26e-283464.21.9Loss
PRADProstate adenocarcinoma4910.3444.51e-1510.887.61.6Neutral
READRectum adenocarcinoma1640.5881.22e-1633.557.98.5Loss
SARCSarcoma2550.5731.13e-2323.148.228.6Neutral
SKCMSkin Cutaneous Melanoma3670.575.28e-3311.453.734.9Gain
STADStomach adenocarcinoma4130.4841.37e-2533.957.68.5Loss
TGCTTesticular Germ Cell Tumors1500.5977.84e-16224236Gain
THCAThyroid carcinoma4970.6925.06e-7217.382.30.4Neutral
THYMThymoma1190.1570.08910.984.94.2Neutral
UCECUterine Corpus Endometrial Carcinoma5370.4175.36e-2416.672.311.2Neutral
Summary
SymbolSMARCB1
NameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Aliases BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ......
Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Methylation level in the promoter region of CR
> Methylation level in the promoter region of CR
 


  Correlation between expression and methylation as well as differential methylation analysis.
Cancer Full Name R P # N # T Delta beta (T vs N) P value (T vs N) Status
BLCABladder urothelial carcinoma-0.0870.074817408-0.0040.133NS/NA
BRCABreast invasive carcinoma-0.0930.00628837850.0020.768NS/NA
CESCCervical and endocervical cancers-0.1060.06293306NANANS/NA
COADColon adenocarcinoma-0.0230.6791929700.0176NS/NA
ESCAEsophageal carcinoma-0.0230.7529185NANANS/NA
GBMGlioblastoma multiforme-0.3950.00123164NANANS/NA
HNSCHead and Neck squamous cell carcinoma-0.1040.0156205220.2181.03e-10Increased
KIRCKidney renal clear cell carcinoma-0.0170.752243190.0030.000158NS/NA
KIRPKidney renal papillary cell carcinoma-0.1510.00898232750.0030.398NS/NA
LAMLAcute Myeloid Leukemia0.0020.9840170NANANS/NA
LGGBrain Lower Grade Glioma-0.0990.0230530NANANS/NA
LIHCLiver hepatocellular carcinoma-0.1090.0269413730.0020.000337NS/NA
LUADLung adenocarcinoma-0.0810.076621456-0.010.166NS/NA
LUSCLung squamous cell carcinoma-0.3051.79e-098370NANANS/NA
OVOvarian serous cystadenocarcinoma-0.6670.058909NANANS/NA
PAADPancreatic adenocarcinoma-0.0710.344179NANANS/NA
PCPGPheochromocytoma and Paraganglioma-0.2260.001953184NANANS/NA
PRADProstate adenocarcinoma-0.1984.24e-063549800.728NS/NA
READRectum adenocarcinoma-0.1490.137299NANANS/NA
SARCSarcoma-0.0280.6550263NANANS/NA
SKCMSkin Cutaneous Melanoma-0.1210.00881471NANANS/NA
STADStomach adenocarcinoma-0.0060.9110372NANANS/NA
TGCTTesticular Germ Cell Tumors-0.2430.002310156NANANS/NA
THCAThyroid carcinoma-0.050.2450509-0.0642.9e-09NS/NA
THYMThymoma-0.3663.76e-052120NANANS/NA
UCECUterine Corpus Endometrial Carcinoma-0.0210.65344310.1585.72e-05NS/NA
Summary
SymbolSMARCB1
NameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Aliases BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ......
Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Primary tumor tissue from TCGA
> Normal tumor tissue from HPA
>The Cancer Genome Atlas (TCGA)
 
There is no record.
> The Human Protein Atlas (HPA)
 


Tissue Level Level Name
Adrenal gland 3 High
Appendix 3 High
Bone marrow 3 High
Breast 2 Medium
Bronchus 3 High
Caudate 3 High
Cerebellum 3 High
Cerebral cortex 3 High
Cervix, uterine 3 High
Colon 3 High
Duodenum 3 High
Endometrium 3 High
Epididymis 3 High
Esophagus 3 High
Fallopian tube 3 High
Gallbladder 3 High
Heart muscle 3 High
Hippocampus 3 High
Kidney 3 High
Liver 1 Low
Lung 3 High
Lymph node 3 High
Nasopharynx 3 High
Oral mucosa 3 High
Ovary 3 High
Pancreas 3 High
Parathyroid gland 3 High
Placenta 3 High
Prostate 3 High
Rectum 3 High
Salivary gland 3 High
Seminal vesicle 3 High
Skeletal muscle 3 High
Skin 3 High
Small intestine 3 High
Smooth muscle 3 High
Soft tissue 2 Medium
Spleen 3 High
Stomach 3 High
Testis 3 High
Thyroid gland 3 High
Tonsil 3 High
Urinary bladder 3 High
Vagina 3 High
Summary
SymbolSMARCB1
NameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Aliases BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ......
Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Association between expresson and subtype
> Overall survival analysis based on expression
> Association between expresson and stage
> Association between expresson and grade
> Subtype
 


  Association between expresson and subtype.
Cancer Full Name # Patients P Value (Kruskal-Wallis) Association Source
BLCABladder urothelial carcinoma1280.517NS24476821
BRCABreast invasive carcinoma5211.49e-19Significant23000897
COADColon adenocarcinoma1490.541NS22810696
GBMGlioblastoma multiforme1571.73e-06Significant26824661
HNSCHead and Neck squamous cell carcinoma2796.9e-05Significant25631445
KIRPKidney renal papillary cell carcinoma1610.0016Significant26536169
LGGBrain Lower Grade Glioma5134.2e-18Significant26824661
LUADLung adenocarcinoma2300.0447Significant25079552
LUSCLung squamous cell carcinoma1780.000119Significant22960745
OVOvarian serous cystadenocarcinoma2879.65e-05Significant21720365
PRADProstate adenocarcinoma3330.000869Significant26544944
READRectum adenocarcinoma670.979NS22810696
SKCMSkin Cutaneous Melanoma3150.131NS26091043
STADStomach adenocarcinoma2770.0155Significant25079317
THCAThyroid carcinoma3919.75e-07Significant25417114
UCECUterine Corpus Endometrial Carcinoma2320.306NS23636398
> Overall survival
 

  Overall survival analysis based on expression.
Cancer Full Name # Patients Hazard Ratio P Value (Log Rank Test) Association
BLCABladder urothelial carcinoma405 0.7910.279NS
BRCABreast invasive carcinoma1079 1.0120.96NS
CESCCervical and endocervical cancers291 1.0630.845NS
COADColon adenocarcinoma439 0.8410.542NS
ESCAEsophageal carcinoma184 0.9240.813NS
GBMGlioblastoma multiforme158 0.6260.0664NS
HNSCHead and Neck squamous cell carcinoma518 1.2810.205NS
KIRCKidney renal clear cell carcinoma531 0.6460.0365Longer
KIRPKidney renal papillary cell carcinoma287 0.4590.0463Longer
LAMLAcute Myeloid Leukemia149 1.7990.0403Shorter
LGGBrain Lower Grade Glioma511 0.2921.68e-06Longer
LIHCLiver hepatocellular carcinoma365 1.260.378NS
LUADLung adenocarcinoma502 1.0540.799NS
LUSCLung squamous cell carcinoma494 0.8750.488NS
OVOvarian serous cystadenocarcinoma303 0.8450.419NS
PAADPancreatic adenocarcinoma177 0.830.539NS
PCPGPheochromocytoma and Paraganglioma179 00.0221Longer
PRADProstate adenocarcinoma497 0.2610.197NS
READRectum adenocarcinoma159 0.3550.177NS
SARCSarcoma259 2.0380.0137Shorter
SKCMSkin Cutaneous Melanoma459 1.5640.0205Shorter
STADStomach adenocarcinoma388 0.820.379NS
TGCTTesticular Germ Cell Tumors134 00.317NS
THCAThyroid carcinoma500 0.360.204NS
THYMThymoma119 0.2370.177NS
UCECUterine Corpus Endometrial Carcinoma543 0.9010.701NS
> Stage
 

  Association between expresson and stage.
Cancer Full Name # Patients R Value (Spearman) P Value (Spearman) Association
BLCABladder urothelial carcinoma406 -0.1140.0218Lower
BRCABreast invasive carcinoma1071 0.0090.757NS
CESCCervical and endocervical cancers167 0.0190.81NS
COADColon adenocarcinoma445 -0.1210.0107Lower
ESCAEsophageal carcinoma162 -0.0730.356NS
HNSCHead and Neck squamous cell carcinoma448 0.070.138NS
KIRCKidney renal clear cell carcinoma531 -0.1070.0137Lower
KIRPKidney renal papillary cell carcinoma260 -0.1430.0214Lower
LIHCLiver hepatocellular carcinoma347 0.0540.319NS
LUADLung adenocarcinoma507 -0.010.82NS
LUSCLung squamous cell carcinoma497 0.0320.474NS
OVOvarian serous cystadenocarcinoma302 -0.1180.0406Lower
PAADPancreatic adenocarcinoma176 -0.1380.0673NS
READRectum adenocarcinoma156 -0.1530.0572NS
SKCMSkin Cutaneous Melanoma410 0.0220.657NS
STADStomach adenocarcinoma392 -0.0840.0983NS
TGCTTesticular Germ Cell Tumors81 0.0120.916NS
THCAThyroid carcinoma499 0.0720.11NS
UCECUterine Corpus Endometrial Carcinoma501 -0.0090.842NS
> Grade
 

  Association between expresson and grade.
Cancer Full Name # Patients R Value (Spearman) P Value (Spearman) Association
CESCCervical and endocervical cancers272 0.140.0214Higher
HNSCHead and Neck squamous cell carcinoma498 0.1190.00785Higher
KIRCKidney renal clear cell carcinoma525 -0.0710.105NS
LGGBrain Lower Grade Glioma514 -0.0450.306NS
LIHCLiver hepatocellular carcinoma366 0.1170.0251Higher
OVOvarian serous cystadenocarcinoma296 -0.0680.243NS
PAADPancreatic adenocarcinoma176 -0.1660.0279Lower
STADStomach adenocarcinoma406 -0.110.0263Lower
UCECUterine Corpus Endometrial Carcinoma534 0.0620.15NS
Summary
SymbolSMARCB1
NameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Aliases BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ......
Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Targets inferred by reverse engineering method
> Targets identified by ChIP-seq data
> Targets inferred by reverse engineering method
 
> Targets identified by ChIP-seq data
 
Summary
SymbolSMARCB1
NameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Aliases BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ......
Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Drugs from DrugBank database
> Drugs from DrugBank database
 
There is no record for SMARCB1.
Summary
SymbolSMARCB1
NameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Aliases BAF47; Ini1; Snr1; hSNFS; Sfh1p; RDT; PPP1R144; sucrose nonfermenting, yeast, homolog-like 1; integrase inte ......
Location22q11.23
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Protein-Protein Interaction Network
> miRNA Regulatory Relationship
> Interactions from Text Mining
> Protein-Protein Interaction Network
 
> miRNA Regulatory Relationship
 
> Interactions from Text Mining
 
PMID Cancer Hierarchy Gene Relation to CR Evidence
26743474Endometrial CarcinomapartnerSMARCA4mutual exclusiveThe loss of SMARCA4 or SMARCB1 was mutually exclusive.
26551623Gastrointestinal CarcinomapartnerSMARCA2correlationSMARCA2 loss was isolated in 5 cases and coexisted with lost SMARCB1 in 5 cases (all 5 SMARCB1-deficient tumors showed loss of SMARCA2 as well).
25103069Pancreatic CarcinomapartnerKRAScorrelationOn the other hand, loss of SMARCB1 expression correlated with the absence of KRAS alterations (3 out of 5 cases; 60%).