Browse PHF8 in pancancer

Summary
SymbolPHF8
NamePHD finger protein 8
Aliases KIAA1111; JHDM1F; jumonji C domain-containing histone demethylase 1F; MRXSSD; Histone lysine demethylase PHF ......
LocationXp11.22
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 PF02373 JmjC domain
PF00628 PHD-finger
Function

Histone lysine demethylase with selectivity for the di- and monomethyl states that plays a key role cell cycle progression, rDNA transcription and brain development. Demethylates mono- and dimethylated histone H3 'Lys-9' residue (H3K9Me1 and H3K9Me2), dimethylated H3 'Lys-27' (H3K27Me2) and monomethylated histone H4 'Lys-20' residue (H4K20Me1). Acts as a transcription activator as H3K9Me1, H3K9Me2, H3K27Me2 and H4K20Me1 are epigenetic repressive marks. Involved in cell cycle progression by being required to control G1-S transition. Acts as a coactivator of rDNA transcription, by activating polymerase I (pol I) mediated transcription of rRNA genes. Required for brain development, probably by regulating expression of neuron-specific genes. Only has activity toward H4K20Me1 when nucleosome is used as a substrate and when not histone octamer is used as substrate. May also have weak activity toward dimethylated H3 'Lys-36' (H3K36Me2), however, the relevance of this result remains unsure in vivo. Specifically binds trimethylated 'Lys-4' of histone H3 (H3K4me3), affecting histone demethylase specificity: has weak activity toward H3K9Me2 in absence of H3K4me3, while it has high activity toward H3K9me2 when binding H3K4me3.

Classification
Class Modification Substrate Product PubMed
Histone modification erase Histone methylation H3K9me1, H3K9me2, H3K27me2, H4K20me1, H3K36me2, H3K36me3, H3K4me3 H3K9, H3K27, H4K20, H3K36, H3K4 21423274
> Gene Ontology
 
Biological Process GO:0000082 G1/S transition of mitotic cell cycle
GO:0000183 chromatin silencing at rDNA
GO:0006342 chromatin silencing
GO:0006356 regulation of transcription from RNA polymerase I promoter
GO:0006360 transcription from RNA polymerase I promoter
GO:0006482 protein demethylation
GO:0008214 protein dealkylation
GO:0016458 gene silencing
GO:0016570 histone modification
GO:0016577 histone demethylation
GO:0031935 regulation of chromatin silencing
GO:0031936 negative regulation of chromatin silencing
GO:0033169 histone H3-K9 demethylation
GO:0035574 histone H4-K20 demethylation
GO:0040029 regulation of gene expression, epigenetic
GO:0044770 cell cycle phase transition
GO:0044772 mitotic cell cycle phase transition
GO:0044843 cell cycle G1/S phase transition
GO:0045814 negative regulation of gene expression, epigenetic
GO:0045815 positive regulation of gene expression, epigenetic
GO:0045943 positive regulation of transcription from RNA polymerase I promoter
GO:0060968 regulation of gene silencing
GO:0060969 negative regulation of gene silencing
GO:0061187 regulation of chromatin silencing at rDNA
GO:0061188 negative regulation of chromatin silencing at rDNA
GO:0070076 histone lysine demethylation
GO:0070544 histone H3-K36 demethylation
GO:0070988 demethylation
GO:0071557 histone H3-K27 demethylation
GO:1902275 regulation of chromatin organization
GO:1905268 negative regulation of chromatin organization
Molecular Function GO:0003682 chromatin binding
GO:0005506 iron ion binding
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0016706 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
GO:0032451 demethylase activity
GO:0032452 histone demethylase activity
GO:0032454 histone demethylase activity (H3-K9 specific)
GO:0035064 methylated histone binding
GO:0035575 histone demethylase activity (H4-K20 specific)
GO:0042393 histone binding
GO:0051213 dioxygenase activity
GO:0051864 histone demethylase activity (H3-K36 specific)
GO:0071558 histone demethylase activity (H3-K27 specific)
Cellular Component GO:0005635 nuclear envelope
GO:0031965 nuclear membrane
> KEGG and Reactome Pathway
 
KEGG -
Reactome R-HSA-1640170: Cell Cycle
R-HSA-69278: Cell Cycle, Mitotic
R-HSA-3247509: Chromatin modifying enzymes
R-HSA-4839726: Chromatin organization
R-HSA-2299718: Condensation of Prophase Chromosomes
R-HSA-3214842: HDMs demethylate histones
R-HSA-68886: M Phase
R-HSA-68875: Mitotic Prophase
Summary
SymbolPHF8
NamePHD finger protein 8
Aliases KIAA1111; JHDM1F; jumonji C domain-containing histone demethylase 1F; MRXSSD; Histone lysine demethylase PHF ......
LocationXp11.22
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)
 
There is no record.
> Catalogue of Somatic Mutations in Cancer (COSMIC)
 
COSMIC ID CDS change AA change Mutation Type Anatomical Site
COSM1123273c.1141G>Cp.G381RSubstitution - MissenseEndometrium
COSM3767009c.1343T>Cp.V448ASubstitution - MissenseLiver
COSM1724609c.2383_2385delGAGp.E795delEDeletion - In frameUrinary_tract
COSM6018510c.2996C>Tp.P999LSubstitution - MissenseSkin
COSM4794046c.2247G>Ap.G749GSubstitution - coding silentLiver
COSM488485c.1708G>Tp.A570SSubstitution - MissenseKidney
COSM1756622c.1038C>Ap.A346ASubstitution - coding silentUrinary_tract
COSM756871c.1246C>Tp.H416YSubstitution - MissenseLung
COSM1724609c.2383_2385delGAGp.E795delEDeletion - In frameStomach
COSM4887403c.174G>Tp.G58GSubstitution - coding silentUpper_aerodigestive_tract
COSM5412867c.1176C>Tp.Y392YSubstitution - coding silentSkin
COSM488486c.455-2A>Gp.?UnknownKidney
COSM1315604c.196C>Tp.R66CSubstitution - MissenseUrinary_tract
COSM3845083c.1435A>Gp.M479VSubstitution - MissenseBreast
COSM5674741c.398T>Ap.L133*Substitution - NonsenseSoft_tissue
COSM3708680c.1280T>Cp.V427ASubstitution - MissenseLiver
COSM5064771c.544G>Ap.G182RSubstitution - MissenseStomach
COSM4714032c.1727G>Ap.G576DSubstitution - MissenseLarge_intestine
COSM457761c.1141G>Ap.G381SSubstitution - MissenseBreast
COSM1123263c.2845C>Ap.L949ISubstitution - MissenseEndometrium
COSM5588629c.1602G>Ap.K534KSubstitution - coding silentSkin
COSM4110260c.30C>Tp.C10CSubstitution - coding silentStomach
COSM3845074c.2934C>Tp.F978FSubstitution - coding silentBreast
COSM457762c.1003_1004delTTp.L335fs*4Deletion - FrameshiftBreast
COSM2968665c.2730C>Ap.D910ESubstitution - MissenseLarge_intestine
COSM326141c.2020A>Tp.M674LSubstitution - MissenseLung
COSM5412863c.1658C>Tp.S553LSubstitution - MissenseSkin
COSM5501979c.99-3C>Tp.?UnknownBiliary_tract
COSM1123266c.2365G>Ap.E789KSubstitution - MissenseEndometrium
COSM5579312c.2715G>Ap.Q905QSubstitution - coding silentSkin
COSM5757556c.1906C>Tp.P636SSubstitution - MissenseLarge_intestine
COSM5423009c.1631A>Gp.N544SSubstitution - MissenseProstate
COSM3562428c.2204C>Tp.S735LSubstitution - MissenseCervix
COSM4110209c.2399A>Gp.D800GSubstitution - MissenseStomach
COSM1724609c.2383_2385delGAGp.E795delEDeletion - In frameLarge_intestine
COSM4154987c.104T>Ap.V35DSubstitution - MissenseKidney
COSM3786754c.1352C>Tp.T451MSubstitution - MissensePancreas
COSM3562436c.1739G>Cp.R580TSubstitution - MissenseSkin
COSM5946752c.1133T>Gp.I378SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4794046c.2247G>Ap.G749GSubstitution - coding silentLiver
COSM3708676c.2445C>Gp.I815MSubstitution - MissenseLiver
COSM3092507c.1498C>Ap.L500ISubstitution - MissenseUpper_aerodigestive_tract
COSM3562446c.1237C>Tp.L413LSubstitution - coding silentSkin
COSM4942269c.2306C>Tp.P769LSubstitution - MissenseLiver
COSM4714017c.2964_2965delCCp.Q989fs*>36Deletion - FrameshiftLarge_intestine
COSM5455901c.294-10C>Tp.?UnknownLarge_intestine
COSM5064764c.1516C>Tp.R506*Substitution - NonsenseStomach
COSM1123280c.428C>Tp.T143ISubstitution - MissenseEndometrium
COSM1468629c.1733C>Tp.T578MSubstitution - MissenseLarge_intestine
COSM4110244c.938T>Cp.I313TSubstitution - MissenseStomach
COSM3379658c.3026G>Ap.R1009KSubstitution - MissensePancreas
COSM4387350c.1531A>Gp.S511GSubstitution - MissenseLung
COSM4806557c.2915C>Tp.P972LSubstitution - MissensePancreas
COSM4523658c.1119G>Ap.K373KSubstitution - coding silentSkin
COSM4110229c.1607G>Cp.G536ASubstitution - MissenseStomach
COSM3092559c.936C>Tp.F312FSubstitution - coding silentSkin
COSM211491c.2444-1G>Ap.?UnknownHaematopoietic_and_lymphoid_tissue
COSM3562418c.3039C>Tp.I1013ISubstitution - coding silentSkin
COSM1123277c.809G>Ap.R270HSubstitution - MissenseEndometrium
COSM3372297c.293+1G>Tp.?UnknownThyroid
COSM3406485c.820G>Cp.A274PSubstitution - MissenseCentral_nervous_system
COSM5611559c.339G>Tp.V113VSubstitution - coding silentAdrenal_gland
COSM5588626c.2869C>Tp.R957CSubstitution - MissenseSkin
COSM1123281c.325A>Cp.N109HSubstitution - MissenseEndometrium
COSM1724609c.2383_2385delGAGp.E795delEDeletion - In frameLarge_intestine
COSM219034c.2011G>Cp.D671HSubstitution - MissensePancreas
COSM1724609c.2383_2385delGAGp.E795delEDeletion - In frameLarge_intestine
COSM292328c.1279G>Ap.V427ISubstitution - MissenseLarge_intestine
COSM1220386c.2318G>Ap.R773HSubstitution - MissenseLarge_intestine
COSM1468627c.2108delGp.G703fs*126Deletion - FrameshiftLarge_intestine
COSM5911156c.236C>Gp.P79RSubstitution - MissenseSkin
COSM3562424c.2258G>Ap.R753QSubstitution - MissenseSkin
COSM1625994c.508A>Gp.M170VSubstitution - MissenseLiver
COSM4110252c.491G>Ap.R164HSubstitution - MissenseStomach
COSM1331783c.455-20_455-1del20p.?UnknownOvary
COSM219034c.2011G>Cp.D671HSubstitution - MissensePancreas
COSM3562463c.261C>Tp.F87FSubstitution - coding silentSkin
COSM4154983c.660G>Ap.W220*Substitution - NonsenseKidney
COSM1123261c.3070C>Ap.L1024MSubstitution - MissenseEndometrium
COSM4806557c.2915C>Tp.P972LSubstitution - MissensePancreas
COSM5658974c.2308G>Tp.A770SSubstitution - MissenseSoft_tissue
COSM3845080c.2074C>Ap.L692ISubstitution - MissenseBreast
COSM121545c.2904C>Tp.R968RSubstitution - coding silentUpper_aerodigestive_tract
COSM1220388c.2667A>Cp.Q889HSubstitution - MissenseLarge_intestine
COSM3767002c.3005G>Ap.G1002DSubstitution - MissenseLiver
COSM3092498c.1594G>Ap.A532TSubstitution - MissenseLarge_intestine
COSM1491106c.1148G>Ap.R383QSubstitution - MissenseBreast
COSM1123262c.2992C>Tp.R998CSubstitution - MissenseEndometrium
COSM6018513c.2900A>Gp.N967SSubstitution - MissenseSkin
COSM3562463c.261C>Tp.F87FSubstitution - coding silentSkin
COSM257721c.632G>Ap.R211QSubstitution - MissenseLarge_intestine
COSM3767005c.1720T>Ap.S574TSubstitution - MissenseLiver
COSM5965578c.1818G>Tp.V606VSubstitution - coding silentBreast
COSM383647c.376C>Ap.L126MSubstitution - MissenseLung
COSM1123276c.941C>Ap.P314HSubstitution - MissenseEndometrium
COSM1123264c.2700G>Ap.L900LSubstitution - coding silentEndometrium
COSM1123275c.1029G>Tp.Q343HSubstitution - MissenseEndometrium
COSM4379724c.210G>Tp.K70NSubstitution - MissenseLarge_intestine
COSM4110206c.2727A>Tp.Q909HSubstitution - MissenseStomach
COSM4110256c.445C>Tp.H149YSubstitution - MissenseStomach
COSM3562421c.2801C>Tp.P934LSubstitution - MissenseSkin
COSM1756622c.1038C>Ap.A346ASubstitution - coding silentUrinary_tract
COSM5711711c.2542C>Tp.R848CSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3845086c.882G>Ap.G294GSubstitution - coding silentBreast
COSM1123268c.2090C>Tp.A697VSubstitution - MissenseEndometrium
COSM3562459c.289G>Tp.D97YSubstitution - MissenseSkin
COSM4629618c.756C>Gp.G252GSubstitution - coding silentLarge_intestine
COSM1123279c.489C>Ap.T163TSubstitution - coding silentEndometrium
COSM1123261c.3070C>Ap.L1024MSubstitution - MissenseEndometrium
COSM3708680c.1280T>Cp.V427ASubstitution - MissenseLiver
COSM1491099c.2746A>Tp.T916SSubstitution - MissenseBreast
COSM3562443c.1515G>Ap.E505ESubstitution - coding silentSkin
COSM3562432c.1828G>Ap.E610KSubstitution - MissenseSkin
COSM4514689c.876C>Tp.F292FSubstitution - coding silentSkin
COSM294699c.1126C>Ap.L376MSubstitution - MissenseLarge_intestine
COSM4825436c.203C>Tp.S68FSubstitution - MissenseCervix
COSM4912756c.1317G>Ap.L439LSubstitution - coding silentLiver
COSM4826262c.1249G>Ap.E417KSubstitution - MissenseCervix
COSM756872c.2071A>Gp.I691VSubstitution - MissenseLung
COSM3092571c.353A>Gp.E118GSubstitution - MissenseLung
COSM72169c.1231G>Ap.E411KSubstitution - MissenseOvary
COSM3379704c.631C>Tp.R211*Substitution - NonsensePancreas
COSM1734872c.2306C>Ap.P769HSubstitution - MissensePancreas
COSM1169364c.281G>Cp.R94TSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1472217c.988T>Gp.F330VSubstitution - MissenseProstate
COSM4714028c.2226C>Tp.S742SSubstitution - coding silentLarge_intestine
COSM3940055c.573T>Cp.I191ISubstitution - coding silentOesophagus
COSM139243c.2576C>Tp.P859LSubstitution - MissenseSkin
COSM4461061c.1083C>Tp.F361FSubstitution - coding silentSkin
COSM1220389c.2937G>Cp.L979FSubstitution - MissenseLarge_intestine
COSM4881509c.430G>Tp.V144LSubstitution - MissenseUpper_aerodigestive_tract
COSM4564348c.1037_1038CC>TTp.A346VSubstitution - MissenseSkin
COSM4956909c.2715G>Tp.Q905HSubstitution - MissenseLiver
COSM3092531c.1389C>Tp.A463ASubstitution - coding silentLarge_intestine
COSM1468632c.1666G>Tp.D556YSubstitution - MissenseLarge_intestine
COSM115817c.1732A>Gp.T578ASubstitution - MissenseOvary
COSM4806557c.2915C>Tp.P972LSubstitution - MissensePancreas
COSM3720038c.1935G>Ap.A645ASubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM1123274c.1140C>Tp.R380RSubstitution - coding silentEndometrium
COSM3562451c.806T>Cp.I269TSubstitution - MissenseSkin
COSM488487c.428C>Ap.T143NSubstitution - MissenseBreast
COSM5028932c.2407G>Ap.D803NSubstitution - MissenseBreast
COSM4789783c.2703G>Ap.K901KSubstitution - coding silentLiver
COSM3780518c.1919G>Ap.R640QSubstitution - MissensePancreas
COSM72168c.1337A>Gp.Q446RSubstitution - MissenseOvary
COSM1331786c.2524C>Ap.P842TSubstitution - MissenseOvary
COSM5711839c.2870G>Ap.R957HSubstitution - MissenseSoft_tissue
COSM5044688c.1516C>Ap.R506RSubstitution - coding silentLung
COSM1724609c.2383_2385delGAGp.E795delEDeletion - In frameLarge_intestine
COSM4156915c.2581C>Tp.R861CSubstitution - MissenseThyroid
COSM1123279c.489C>Ap.T163TSubstitution - coding silentEndometrium
COSM4110236c.1216G>Tp.A406SSubstitution - MissenseStomach
COSM3708676c.2445C>Gp.I815MSubstitution - MissenseLiver
COSM6018507c.2997C>Tp.P999PSubstitution - coding silentSkin
COSM3092580c.128C>Tp.A43VSubstitution - MissenseLarge_intestine
COSM3092504c.1528G>Cp.E510QSubstitution - MissenseUpper_aerodigestive_tract
COSM1123278c.525T>Cp.F175FSubstitution - coding silentEndometrium
COSM211021c.2444-1C>Tp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM276730c.2130C>Tp.T710TSubstitution - coding silentLarge_intestine
COSM5450657c.124G>Ap.A42TSubstitution - MissenseLarge_intestine
COSM5507958c.2849C>Tp.A950VSubstitution - MissenseBiliary_tract
COSM363470c.1092T>Gp.F364LSubstitution - MissenseLung
COSM4956909c.2715G>Tp.Q905HSubstitution - MissenseLiver
COSM3786754c.1352C>Tp.T451MSubstitution - MissenseLarge_intestine
COSM1331789c.2949C>Tp.R983RSubstitution - coding silentOvary
COSM4110248c.924A>Gp.G308GSubstitution - coding silentStomach
COSM4850815c.667G>Ap.E223KSubstitution - MissenseCervix
COSM294700c.620C>Tp.P207LSubstitution - MissenseLarge_intestine
COSM1724609c.2383_2385delGAGp.E795delEDeletion - In frameSkin
COSM1315602c.1260C>Tp.I420ISubstitution - coding silentUrinary_tract
COSM4926013c.1265A>Gp.E422GSubstitution - MissenseLiver
COSM355691c.873G>Ap.M291ISubstitution - MissenseLung
COSM3845077c.2728G>Ap.D910NSubstitution - MissenseBreast
COSM4885677c.455G>Tp.G152VSubstitution - MissenseUpper_aerodigestive_tract
COSM1123265c.2593C>Tp.R865WSubstitution - MissenseEndometrium
COSM4993962c.496G>Ap.A166TSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3092510c.1497A>Tp.E499DSubstitution - MissenseUpper_aerodigestive_tract
COSM4110232c.1323+2T>Cp.?UnknownStomach
COSM3940051c.947-1G>Ap.?UnknownOesophagus
COSM4714023c.2587G>Ap.G863RSubstitution - MissenseLarge_intestine
COSM3092507c.1498C>Ap.L500ISubstitution - MissenseUpper_aerodigestive_tract
COSM1123279c.489C>Ap.T163TSubstitution - coding silentEndometrium
COSM4789783c.2703G>Ap.K901KSubstitution - coding silentLiver
COSM5650700c.257C>Tp.T86MSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM2968679c.2525C>Ap.P842QSubstitution - MissenseLarge_intestine
COSM5033868c.1730+7T>Gp.?UnknownSkin
COSM457763c.57C>Tp.F19FSubstitution - coding silentBreast
COSM5064767c.1270G>Ap.V424MSubstitution - MissenseStomach
COSM1123279c.489C>Ap.T163TSubstitution - coding silentEndometrium
COSM5946752c.1133T>Gp.I378SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4832150c.1255G>Ap.E419KSubstitution - MissenseCervix
COSM3379658c.3026G>Ap.R1009KSubstitution - MissensePancreas
COSM4110217c.1889C>Tp.A630VSubstitution - MissenseStomach
COSM1123270c.2046T>Cp.L682LSubstitution - coding silentEndometrium
COSM4929032c.410T>Gp.L137RSubstitution - MissenseLiver
COSM4891222c.767G>Tp.W256LSubstitution - MissenseUpper_aerodigestive_tract
COSM3092504c.1528G>Cp.E510QSubstitution - MissenseUpper_aerodigestive_tract
COSM4840028c.2902C>Tp.R968CSubstitution - MissenseCervix
COSM3092510c.1497A>Tp.E499DSubstitution - MissenseUpper_aerodigestive_tract
COSM3786754c.1352C>Tp.T451MSubstitution - MissensePancreas
COSM1724609c.2383_2385delGAGp.E795delEDeletion - In frameLarge_intestine
COSM3092580c.128C>Tp.A43VSubstitution - MissenseLarge_intestine
COSM268512c.1918C>Tp.R640WSubstitution - MissenseLarge_intestine
COSM1220386c.2318G>Ap.R773HSubstitution - MissenseLarge_intestine
COSM4486288c.2925C>Gp.P975PSubstitution - coding silentSkin
COSM4110221c.1827C>Tp.D609DSubstitution - coding silentStomach
COSM3845090c.466G>Cp.E156QSubstitution - MissenseBreast
COSM1123269c.2083C>Tp.L695FSubstitution - MissenseEndometrium
COSM3694652c.1599G>Tp.L533LSubstitution - coding silentLarge_intestine
COSM5472894c.2457G>Tp.L819LSubstitution - coding silentLarge_intestine
COSM5570403c.2554A>Gp.T852ASubstitution - MissenseProstate
COSM4110225c.1660G>Ap.D554NSubstitution - MissenseStomach
COSM5824235c.976G>Tp.D326YSubstitution - MissenseLiver
COSM3092486c.1725C>Tp.N575NSubstitution - coding silentLarge_intestine
COSM488487c.428C>Ap.T143NSubstitution - MissenseKidney
COSM3562432c.1828G>Ap.E610KSubstitution - MissenseStomach
COSM4714020c.2796C>Tp.S932SSubstitution - coding silentLarge_intestine
COSM3562428c.2204C>Tp.S735LSubstitution - MissenseSkin
COSM5643079c.966G>Tp.L322LSubstitution - coding silentOesophagus
COSM1468636c.78C>Tp.C26CSubstitution - coding silentLarge_intestine
COSM4110213c.2284C>Tp.L762LSubstitution - coding silentStomach
COSM3092580c.128C>Tp.A43VSubstitution - MissenseLarge_intestine
COSM138155c.1626+1G>Ap.?UnknownSkin
COSM756870c.160G>Tp.E54*Substitution - NonsenseLung
COSM4714036c.416C>Tp.S139LSubstitution - MissenseLarge_intestine
COSM3562455c.306G>Ap.V102VSubstitution - coding silentSkin
COSM1123271c.1897A>Gp.I633VSubstitution - MissenseEndometrium
COSM1123272c.1660G>Tp.D554YSubstitution - MissenseEndometrium
COSM1715010c.922_923GG>AAp.G308KSubstitution - MissenseSkin
COSM3780522c.1147C>Tp.R383*Substitution - NonsensePancreas
COSM4526929c.1321G>Ap.E441KSubstitution - MissenseSkin
COSM457760c.1834G>Cp.D612HSubstitution - MissenseBreast
COSM1491103c.1537G>Ap.A513TSubstitution - MissenseBreast
COSM3562440c.1517G>Ap.R506QSubstitution - MissenseSkin
COSM4110240c.1138C>Tp.R380CSubstitution - MissenseStomach
COSM488488c.267A>Gp.R89RSubstitution - coding silentKidney
COSM72167c.2358G>Cp.W786CSubstitution - MissenseOvary
COSM292328c.1279G>Ap.V427ISubstitution - MissenseEndometrium
> Text Mining based Variations
 
There is no record for PHF8.
Summary
SymbolPHF8
NamePHD finger protein 8
Aliases KIAA1111; JHDM1F; jumonji C domain-containing histone demethylase 1F; MRXSSD; Histone lysine demethylase PHF ......
LocationXp11.22
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
Q9UPP1120SPhosphoserineCDK1NoNone detected
Q9UPP1651SPhosphoserine-NoNone detected
Q9UPP1704YPhosphotyrosine-NoNone detected
Q9UPP1705TPhosphothreonine-NoNone detected
Q9UPP1706TPhosphothreonine-NoNone detected
Q9UPP1722SPhosphoserine-NoNone detected
Q9UPP1804SPhosphoserine-NoNone detected
Q9UPP1826SPhosphoserine-NoNone detected
Q9UPP1834SPhosphoserine-NoNone detected
Q9UPP1854SPhosphoserine-NoNone detected
Q9UPP1857SPhosphoserine-NoNone detected
Q9UPP1880SPhosphoserine-NoNone detected
Summary
SymbolPHF8
NamePHD finger protein 8
Aliases KIAA1111; JHDM1F; jumonji C domain-containing histone demethylase 1F; MRXSSD; Histone lysine demethylase PHF ......
LocationXp11.22
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 carcinoma194085.5685.512-0.0680.752NS
BRCABreast invasive carcinoma11211005.6045.9530.3151.78e-07NS
CESCCervical and endocervical cancers33064.9625.358NANANA
COADColon adenocarcinoma414595.2995.5790.3320.000186NS
ESCAEsophageal carcinoma111855.7735.9530.1830.371NS
GBMGlioblastoma multiforme51664.5185.268NANANA
HNSCHead and Neck squamous cell carcinoma445225.2074.896-0.1970.129NS
KIRCKidney renal clear cell carcinoma725345.6455.233-0.4814.48e-19NS
KIRPKidney renal papillary cell carcinoma322915.4585.065-0.5061.06e-05NS
LAMLAcute Myeloid Leukemia0173NA6.544NANANA
LGGBrain Lower Grade Glioma0530NA5.34NANANA
LIHCLiver hepatocellular carcinoma503735.235.001-0.310.0186NS
LUADLung adenocarcinoma595175.2035.5320.4491.2e-06NS
LUSCLung squamous cell carcinoma515015.2415.8070.631.42e-09Over
OVOvarian serous cystadenocarcinoma0307NA6.18NANANA
PAADPancreatic adenocarcinoma41795.0785.16NANANA
PCPGPheochromocytoma and Paraganglioma31844.8035.322NANANA
PRADProstate adenocarcinoma524986.1136.4950.4293.19e-05NS
READRectum adenocarcinoma101675.2025.7660.6690.000347Over
SARCSarcoma22634.225.04NANANA
SKCMSkin Cutaneous Melanoma14725.095.518NANANA
STADStomach adenocarcinoma354155.2595.6710.3852.21e-05NS
TGCTTesticular Germ Cell Tumors0156NA6.194NANANA
THCAThyroid carcinoma595095.4655.4960.0720.257NS
THYMThymoma21206.0335.534NANANA
UCECUterine Corpus Endometrial Carcinoma355465.5066.0170.5170.000419NS
> Cancer Cell Line Encyclopedia (CCLE)
 

There is no record.
> The Human Protein Atlas (HPA)
 


Tissue Expression Level (TPM)
Adipose tissue 10.2
Adrenal gland 10.1
Appendix 18.2
Bone marrow 10.5
Breast 14.7
Cerebral cortex 10
Cervix, uterine 13.3
Colon 9.3
Duodenum 11
Endometrium 21.2
Epididymis 84.6
Esophagus 11.2
Fallopian tube 20.5
Gallbladder 14.6
Heart muscle 4.2
Kidney 10.1
Liver 9.5
Lung 13.7
Lymph node 19.3
Ovary 22.2
Pancreas 3.5
Parathyroid gland 21.3
Placenta 18.8
Prostate 21.5
Rectum 10.8
Salivary gland 4.8
Seminal vesicle 25.6
Skeletal muscle 2.9
Skin 13.9
Small intestine 11.3
Smooth muscle 13.8
Spleen 19.3
Stomach 9.4
Testis 75.6
Thyroid gland 18.3
Tonsil 15.2
Urinary bladder 13.8
> Text Mining based Expression
 
PMID Expression Cancer Evidence
27183383overexpressionBreast CarcinomaUSP7 was overexpressed in breast carcinomas, and the level of expression positively correlated with expression of PHF8 and cyclin A2 and with the histological grade of breast cancer.
26309412overexpressionProstate CarcinomaPlant homeodomain finger protein 8 (PHF8) is upregulated in human PCa tissues and cell lines.
25065740overexpressionNon-Small Cell Lung CarcinomaPHF8 is up-regulated in human NSCLC tissues, and high PHF8 expression predicts poor survival.
22120715overexpressionProstate CarcinomaOur results show that the KDMs JARID1B, PHF8, KDM3A, KDM3B and KDM4A were highly expressed in clinical PrCa samples.
28401003OverexpressionGastric CarcinomaIn this report, we show that PHF8 expression is upregulated in GC tissues, and the enhanced PHF8 level indicates a poor prognosis of GC patients.
27991916OverexpressionProstate CarcinomaImportantly, we observed that PHF8 is highly expressed in clinical androgen deprived prostate cancer samples and expression of PHF8 correlates with increased levels of HIF1α and HIF2α.
Summary
SymbolPHF8
NamePHD finger protein 8
Aliases KIAA1111; JHDM1F; jumonji C domain-containing histone demethylase 1F; MRXSSD; Histone lysine demethylase PHF ......
LocationXp11.22
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 carcinoma4040.2455.9e-0719.364.915.8Neutral
BRCABreast invasive carcinoma10750.222.87e-1315.96618.1Neutral
CESCCervical and endocervical cancers2920.1250.03212463.412.7Neutral
COADColon adenocarcinoma4490.1270.0070414.768.816.5Neutral
ESCAEsophageal carcinoma1830.2350.0013933.351.914.8Neutral
GBMGlioblastoma multiforme147-0.0030.97422.473.54.1Neutral
HNSCHead and Neck squamous cell carcinoma5140.1995.22e-0626.363.210.5Neutral
KIRCKidney renal clear cell carcinoma5250.2042.54e-069.185.55.3Neutral
KIRPKidney renal papillary cell carcinoma288-0.1290.028211.155.933Neutral
LAMLAcute Myeloid Leukemia1660.0120.879395.81.2Neutral
LGGBrain Lower Grade Glioma5130.0620.1613.874.511.7Neutral
LIHCLiver hepatocellular carcinoma364-0.0540.30526.962.111Neutral
LUADLung adenocarcinoma5120.2214.67e-0718.469.911.7Neutral
LUSCLung squamous cell carcinoma4980.2651.96e-0926.15914.9Neutral
OVOvarian serous cystadenocarcinoma3000.3181.78e-0842.329.328.3Loss
PAADPancreatic adenocarcinoma1770.1430.057115.380.84Neutral
PCPGPheochromocytoma and Paraganglioma1620.0950.22827.867.34.9Neutral
PRADProstate adenocarcinoma4910.0720.1096.390.63.1Neutral
READRectum adenocarcinoma1640.2770.00032918.364.617.1Neutral
SARCSarcoma2550.2749.1e-0619.243.137.6Gain
SKCMSkin Cutaneous Melanoma3670.0620.23422.661.915.5Neutral
STADStomach adenocarcinoma4130.1090.027114.873.112.1Neutral
TGCTTesticular Germ Cell Tumors1500.0790.33418.76417.3Neutral
THCAThyroid carcinoma497-0.0740.101197.61.4Neutral
THYMThymoma119-0.0060.9525.992.41.7Neutral
UCECUterine Corpus Endometrial Carcinoma5370.0750.083711.772.316Neutral
Summary
SymbolPHF8
NamePHD finger protein 8
Aliases KIAA1111; JHDM1F; jumonji C domain-containing histone demethylase 1F; MRXSSD; Histone lysine demethylase PHF ......
LocationXp11.22
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-0.1280.0082517408-0.0150.0617NS/NA
BRCABreast invasive carcinoma-0.1020.0026783785-0.067.91e-28NS/NA
CESCCervical and endocervical cancers-0.2711.45e-063306NANANS/NA
COADColon adenocarcinoma-0.2110.000167192970.0020.967NS/NA
ESCAEsophageal carcinoma-0.2250.001659185NANANS/NA
GBMGlioblastoma multiforme0.0060.964164NANANS/NA
HNSCHead and Neck squamous cell carcinoma-0.1490.000488205220.0030.959NS/NA
KIRCKidney renal clear cell carcinoma-0.0450.401243190.0010.0811NS/NA
KIRPKidney renal papillary cell carcinoma0.0540.355232750.0010.369NS/NA
LAMLAcute Myeloid Leukemia-0.1950.0110170NANANS/NA
LGGBrain Lower Grade Glioma-0.0910.03630530NANANS/NA
LIHCLiver hepatocellular carcinoma-0.1680.000625413730.0010.0938NS/NA
LUADLung adenocarcinoma-0.1260.00589214560.1680.338NS/NA
LUSCLung squamous cell carcinoma-0.1450.00478370NANANS/NA
OVOvarian serous cystadenocarcinoma0.2170.58109NANANS/NA
PAADPancreatic adenocarcinoma-0.1460.04924179NANANS/NA
PCPGPheochromocytoma and Paraganglioma-0.1330.06983184NANANS/NA
PRADProstate adenocarcinoma-0.0410.34535498-0.0221.16e-06NS/NA
READRectum adenocarcinoma-0.1130.26299NANANS/NA
SARCSarcoma0.010.870263NANANS/NA
SKCMSkin Cutaneous Melanoma-0.1050.02221471NANANS/NA
STADStomach adenocarcinoma-0.2182.24e-050372NANANS/NA
TGCTTesticular Germ Cell Tumors-0.3471e-050156NANANS/NA
THCAThyroid carcinoma-0.0380.36750509-0.0490.866NS/NA
THYMThymoma0.0630.4882120NANANS/NA
UCECUterine Corpus Endometrial Carcinoma-0.1660.00031734431-0.0732.93e-21NS/NA
Summary
SymbolPHF8
NamePHD finger protein 8
Aliases KIAA1111; JHDM1F; jumonji C domain-containing histone demethylase 1F; MRXSSD; Histone lysine demethylase PHF ......
LocationXp11.22
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 2 Medium
Appendix 2 Medium
Bone marrow 1 Low
Breast 2 Medium
Bronchus 2 Medium
Caudate 2 Medium
Cerebellum 3 High
Cerebral cortex 3 High
Cervix, uterine 2 Medium
Colon 3 High
Duodenum 2 Medium
Endometrium 2 Medium
Epididymis 2 Medium
Esophagus 3 High
Fallopian tube 2 Medium
Heart muscle 2 Medium
Hippocampus 2 Medium
Kidney 3 High
Liver 0 Not detected
Lung 2 Medium
Lymph node 1 Low
Nasopharynx 3 High
Oral mucosa 0 Not detected
Ovary 1 Low
Pancreas 3 High
Parathyroid gland 2 Medium
Placenta 3 High
Prostate 2 Medium
Rectum 2 Medium
Salivary gland 2 Medium
Seminal vesicle 1 Low
Skeletal muscle 1 Low
Skin 3 High
Small intestine 2 Medium
Smooth muscle 2 Medium
Soft tissue 2 Medium
Spleen 1 Low
Stomach 3 High
Testis 2 Medium
Thyroid gland 3 High
Tonsil 2 Medium
Urinary bladder 2 Medium
Vagina 2 Medium
Summary
SymbolPHF8
NamePHD finger protein 8
Aliases KIAA1111; JHDM1F; jumonji C domain-containing histone demethylase 1F; MRXSSD; Histone lysine demethylase PHF ......
LocationXp11.22
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 carcinoma1280.352NS24476821
BRCABreast invasive carcinoma5211.18e-17Significant23000897
COADColon adenocarcinoma1492.32e-05Significant22810696
GBMGlioblastoma multiforme1570.00013Significant26824661
HNSCHead and Neck squamous cell carcinoma2792.43e-19Significant25631445
KIRPKidney renal papillary cell carcinoma1610.633NS26536169
LGGBrain Lower Grade Glioma5130.000774Significant26824661
LUADLung adenocarcinoma2300.000857Significant25079552
LUSCLung squamous cell carcinoma1787.21e-11Significant22960745
OVOvarian serous cystadenocarcinoma2870.000433Significant21720365
PRADProstate adenocarcinoma3334.65e-14Significant26544944
READRectum adenocarcinoma670.00232Significant22810696
SKCMSkin Cutaneous Melanoma3150.611NS26091043
STADStomach adenocarcinoma2770.0138Significant25079317
THCAThyroid carcinoma3912.09e-06Significant25417114
UCECUterine Corpus Endometrial Carcinoma2320.00925Significant23636398
> Overall survival
 

  Overall survival analysis based on expression.
Cancer Full Name # Patients Hazard Ratio P Value (Log Rank Test) Association
BLCABladder urothelial carcinoma405 0.6140.0224Longer
BRCABreast invasive carcinoma1079 1.3430.207NS
CESCCervical and endocervical cancers291 0.6440.189NS
COADColon adenocarcinoma439 1.3070.365NS
ESCAEsophageal carcinoma184 2.150.0269Shorter
GBMGlioblastoma multiforme158 0.7080.169NS
HNSCHead and Neck squamous cell carcinoma518 0.8150.288NS
KIRCKidney renal clear cell carcinoma531 0.9340.76NS
KIRPKidney renal papillary cell carcinoma287 3.8080.00207Shorter
LAMLAcute Myeloid Leukemia149 0.5330.0401Longer
LGGBrain Lower Grade Glioma511 2.1450.00568Shorter
LIHCLiver hepatocellular carcinoma365 0.5240.0111Longer
LUADLung adenocarcinoma502 0.6660.0549NS
LUSCLung squamous cell carcinoma494 0.7020.063NS
OVOvarian serous cystadenocarcinoma303 1.2040.381NS
PAADPancreatic adenocarcinoma177 0.7320.301NS
PCPGPheochromocytoma and Paraganglioma179 633912313.4730.0741NS
PRADProstate adenocarcinoma497 1.8010.626NS
READRectum adenocarcinoma159 2.8220.174NS
SARCSarcoma259 1.0830.795NS
SKCMSkin Cutaneous Melanoma459 1.2110.33NS
STADStomach adenocarcinoma388 0.7080.123NS
TGCTTesticular Germ Cell Tumors134 00.157NS
THCAThyroid carcinoma500 0.3010.27NS
THYMThymoma119 0.4180.463NS
UCECUterine Corpus Endometrial Carcinoma543 1.0260.932NS
> Stage
 

  Association between expresson and stage.
Cancer Full Name # Patients R Value (Spearman) P Value (Spearman) Association
BLCABladder urothelial carcinoma406 -0.130.00878Lower
BRCABreast invasive carcinoma1071 0.0380.218NS
CESCCervical and endocervical cancers167 0.0190.812NS
COADColon adenocarcinoma445 0.0450.344NS
ESCAEsophageal carcinoma162 0.1330.0909NS
HNSCHead and Neck squamous cell carcinoma448 0.0140.769NS
KIRCKidney renal clear cell carcinoma531 -0.0490.257NS
KIRPKidney renal papillary cell carcinoma260 0.1510.0151Higher
LIHCLiver hepatocellular carcinoma347 -0.130.0155Lower
LUADLung adenocarcinoma507 0.0380.391NS
LUSCLung squamous cell carcinoma497 0.0310.493NS
OVOvarian serous cystadenocarcinoma302 0.0520.372NS
PAADPancreatic adenocarcinoma176 -0.1010.182NS
READRectum adenocarcinoma156 0.1040.197NS
SKCMSkin Cutaneous Melanoma410 0.0050.921NS
STADStomach adenocarcinoma392 -0.040.433NS
TGCTTesticular Germ Cell Tumors81 -0.1410.211NS
THCAThyroid carcinoma499 -0.0270.549NS
UCECUterine Corpus Endometrial Carcinoma501 -0.0750.0948NS
> Grade
 

  Association between expresson and grade.
Cancer Full Name # Patients R Value (Spearman) P Value (Spearman) Association
CESCCervical and endocervical cancers272 -0.0490.421NS
HNSCHead and Neck squamous cell carcinoma498 0.1530.000638Higher
KIRCKidney renal clear cell carcinoma525 -0.0640.143NS
LGGBrain Lower Grade Glioma514 0.1440.00105Higher
LIHCLiver hepatocellular carcinoma366 -0.0870.097NS
OVOvarian serous cystadenocarcinoma296 0.1250.0322Higher
PAADPancreatic adenocarcinoma176 -0.0830.275NS
STADStomach adenocarcinoma406 -0.1030.0374Lower
UCECUterine Corpus Endometrial Carcinoma534 0.0980.0237Higher
Summary
SymbolPHF8
NamePHD finger protein 8
Aliases KIAA1111; JHDM1F; jumonji C domain-containing histone demethylase 1F; MRXSSD; Histone lysine demethylase PHF ......
LocationXp11.22
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
SymbolPHF8
NamePHD finger protein 8
Aliases KIAA1111; JHDM1F; jumonji C domain-containing histone demethylase 1F; MRXSSD; Histone lysine demethylase PHF ......
LocationXp11.22
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 PHF8.
Summary
SymbolPHF8
NamePHD finger protein 8
Aliases KIAA1111; JHDM1F; jumonji C domain-containing histone demethylase 1F; MRXSSD; Histone lysine demethylase PHF ......
LocationXp11.22
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
27183383Breast CarcinomaupstreamUSP7positive regulationWe showed that USP7 promotes breast carcinogenesis by stabilizing PHF8 and upregulating cyclin A2 and that the interaction between USP7 and PHF8 is augmented during DNA damage.
26309412Prostate CarcinomadownstreammiR-125bregulationFurthermore, miR-125b is a target of PHF8, and miR-125b seems to be essential for the hyper proliferation of PCa cells in the presence of PHF8.
25065740Non-Small Cell Lung CarcinomadownstreammiR-21positive regulationPHF8 promotes miR-21 expression in human lung cancer, and miR-21 knockdown blocks the effects of PHF8 on proliferation and apoptosis of lung cancer cells.
28401003Gastric Carcinomapartnerβ-cateninBindingMechanistically, PHF8 interacts with β-catenin, and binds to the promoter region of vimentin, leading to the promotion of vimentin transcription
28401003Gastric CarcinomadownstreamVimentinPositive regulationMechanistically, PHF8 interacts with β-catenin, and binds to the promoter region of vimentin, leading to the promotion of vimentin transcription
27991916Prostate CarcinomapartnerHIF1α; HIF2αPositive correlationImportantly, we observed that PHF8 is highly expressed in clinical androgen deprived prostate cancer samples and expression of PHF8 correlates with increased levels of HIF1α and HIF2α.
27991916Prostate CarcinomadownstreamARPositive regulationThe elevated PHF8 in turn promotes the AR signaling pathway and prostate cancer progression.