CR2Cancer

Summary
Symbol	NSD1
Name	nuclear receptor binding SET domain protein 1
Aliases	ARA267; FLJ22263; KMT3B; STO; Sotos syndrome; SOTOS; SOTOS1; H3-K36-HMTase; H4-K20-HMTase; NR-binding SET do ......
Location	5q35.3
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

[ TOP ]

Domain

PF00855 PWWP domain
PF00856 SET domain

Function

Histone methyltransferase. Preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4 (in vitro). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context.

Classification

Class	Modification	Substrate	Product	PubMed
Histone modification write	Histone methylation	H3K36, H4K20	H3K36me, H4K20me	21196496

> Gene Ontology [ TOP ]
Biological Process	GO:0000414 regulation of histone H3-K36 methylation GO:0006479 protein methylation GO:0008213 protein alkylation GO:0010452 histone H3-K36 methylation GO:0016570 histone modification GO:0016571 histone methylation GO:0018022 peptidyl-lysine methylation GO:0018105 peptidyl-serine phosphorylation GO:0018205 peptidyl-lysine modification GO:0018209 peptidyl-serine modification GO:0031056 regulation of histone modification GO:0031060 regulation of histone methylation GO:0032259 methylation GO:0033135 regulation of peptidyl-serine phosphorylation GO:0034770 histone H4-K20 methylation GO:0034968 histone lysine methylation GO:0043414 macromolecule methylation GO:0051098 regulation of binding GO:0051101 regulation of DNA binding GO:1902275 regulation of chromatin organization GO:1903025 regulation of RNA polymerase II regulatory region sequence-specific DNA binding GO:2000677 regulation of transcription regulatory region DNA binding
Molecular Function	GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding GO:0001046 core promoter sequence-specific DNA binding GO:0001047 core promoter binding GO:0003682 chromatin binding GO:0003714 transcription corepressor activity GO:0008134 transcription factor binding GO:0008168 methyltransferase activity GO:0008170 N-methyltransferase activity GO:0008276 protein methyltransferase activity GO:0008757 S-adenosylmethionine-dependent methyltransferase activity GO:0016278 lysine N-methyltransferase activity GO:0016279 protein-lysine N-methyltransferase activity GO:0016741 transferase activity, transferring one-carbon groups GO:0018024 histone-lysine N-methyltransferase activity GO:0030331 estrogen receptor binding GO:0035257 nuclear hormone receptor binding GO:0035258 steroid hormone receptor binding GO:0042054 histone methyltransferase activity GO:0042799 histone methyltransferase activity (H4-K20 specific) GO:0042974 retinoic acid receptor binding GO:0046965 retinoid X receptor binding GO:0046966 thyroid hormone receptor binding GO:0046975 histone methyltransferase activity (H3-K36 specific) GO:0050681 androgen receptor binding GO:0051427 hormone receptor binding
Cellular Component	-

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa00310 Lysine degradation
Reactome	R-HSA-3247509: Chromatin modifying enzymes R-HSA-4839726: Chromatin organization R-HSA-3214841: PKMTs methylate histone lysines

Summary
Symbol	NSD1
Name	nuclear receptor binding SET domain protein 1
Aliases	ARA267; FLJ22263; KMT3B; STO; Sotos syndrome; SOTOS; SOTOS1; H3-K36-HMTase; H4-K20-HMTase; NR-binding SET do ......
Location	5q35.3
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) [ TOP ]

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM4571111	c.3862T>A	p.Y1288N	Substitution - Missense	Skin
COSM4988877	c.2071G>A	p.A691T	Substitution - Missense	Soft_tissue
COSM4394922	c.6000C>T	p.T2000T	Substitution - coding silent	Skin
COSM3726246	c.6329A>T	p.Q2110L	Substitution - Missense	Lung
COSM3341131	c.3844T>G	p.L1282V	Substitution - Missense	Large_intestine
COSM3715045	c.1549C>T	p.Q517*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM4976476	c.6013C>T	p.R2005*	Substitution - Nonsense	Oesophagus
COSM5518631	c.387A>T	p.E129D	Substitution - Missense	Biliary_tract
COSM1672149	c.7875G>T	p.W2625C	Substitution - Missense	Large_intestine
COSM3994206	c.3642T>C	p.L1214L	Substitution - coding silent	Kidney
COSM4419702	c.1482C>T	p.C494C	Substitution - coding silent	Soft_tissue
COSM4708355	c.6850G>T	p.E2284*	Substitution - Nonsense	Large_intestine
COSM449383	c.7317G>A	p.L2439L	Substitution - coding silent	Lung
COSM1471834	c.6603T>A	p.S2201S	Substitution - coding silent	Prostate
COSM1754197	c.2483C>T	p.S828F	Substitution - Missense	Urinary_tract
COSM4792836	c.3658G>C	p.E1220Q	Substitution - Missense	Liver
COSM4967908	c.361C>T	p.P121S	Substitution - Missense	Adrenal_gland
COSM3697156	c.682C>G	p.P228A	Substitution - Missense	Large_intestine
COSM3853954	c.3155G>A	p.R1052H	Substitution - Missense	Stomach
COSM4655941	c.3018T>A	p.P1006P	Substitution - coding silent	Large_intestine
COSM1754201	c.3918C>G	p.H1306Q	Substitution - Missense	Urinary_tract
COSM482560	c.205T>C	p.Y69H	Substitution - Missense	Kidney
COSM5765680	c.1574G>A	p.R525Q	Substitution - Missense	Large_intestine
COSM1166637	c.5912A>G	p.Y1971C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM163003	c.3108C>G	p.A1036A	Substitution - coding silent	Breast
COSM5985231	c.2602T>C	p.S868P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4385617	c.166_167insA	p.T56fs*37	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1066236	c.3366T>G	p.I1122M	Substitution - Missense	Endometrium
COSM3827767	c.6654C>T	p.I2218I	Substitution - coding silent	Breast
COSM5514636	c.1084C>T	p.R362W	Substitution - Missense	Biliary_tract
COSM737592	c.5332C>T	p.R1778*	Substitution - Nonsense	Lung
COSM4554082	c.6107G>A	p.G2036E	Substitution - Missense	Skin
COSM1066239	c.3430G>A	p.E1144K	Substitution - Missense	Endometrium
COSM5039404	c.5026G>A	p.A1676T	Substitution - Missense	Liver
COSM3853976	c.5854C>T	p.R1952W	Substitution - Missense	Prostate
COSM4992306	c.7443G>C	p.E2481D	Substitution - Missense	Skin
COSM1066269	c.4856G>A	p.C1619Y	Substitution - Missense	Endometrium
COSM3373815	c.4463A>G	p.N1488S	Substitution - Missense	Thyroid
COSM5807737	c.5960A>G	p.Y1987C	Substitution - Missense	Liver
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM337161	c.2105C>A	p.P702H	Substitution - Missense	Lung
COSM482568	c.1290G>A	p.Q430Q	Substitution - coding silent	Kidney
COSM3827751	c.3517C>T	p.R1173C	Substitution - Missense	Breast
COSM4384062	c.2068G>A	p.A690T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5902744	c.2183T>G	p.V728G	Substitution - Missense	Skin
COSM3853962	c.4395T>C	p.F1465F	Substitution - coding silent	Stomach
COSM1066190	c.641C>T	p.T214I	Substitution - Missense	Endometrium
COSM4384094	c.6739G>A	p.A2247T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4159761	c.6903G>C	p.G2301G	Substitution - coding silent	Soft_tissue
COSM1217946	c.3742G>A	p.E1248K	Substitution - Missense	Large_intestine
COSM3341071	c.2428T>C	p.C810R	Substitution - Missense	Large_intestine
COSM1581355	c.2170G>A	p.E724K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1311015	c.7104C>G	p.A2368A	Substitution - coding silent	Urinary_tract
COSM5905627	c.6010G>A	p.D2004N	Substitution - Missense	Skin
COSM5709660	c.6169A>G	p.N2057D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1724163	c.5628C>T	p.N1876N	Substitution - coding silent	Skin
COSM4603816	c.5090delG	p.G1698fs*37	Deletion - Frameshift	Upper_aerodigestive_tract
COSM3784824	c.4974G>A	p.L1658L	Substitution - coding silent	Pancreas
COSM3827755	c.4746C>G	p.I1582M	Substitution - Missense	Breast
COSM4385619	c.6795_6796insA	p.A2268fs*13	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5915422	c.5147-7C>T	p.?	Unknown	Skin
COSM4005987	c.6782T>C	p.M2261T	Substitution - Missense	Soft_tissue
COSM1066314	c.7489C>A	p.L2497M	Substitution - Missense	Endometrium
COSM4653947	c.3058A>G	p.N1020D	Substitution - Missense	Large_intestine
COSM1167807	c.3468_3469insA	p.R1159fs*11	Insertion - Frameshift	Skin
COSM4384064	c.2625T>A	p.D875E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1642693	c.5887delA	p.K1964fs*5	Deletion - Frameshift	Stomach
COSM4506116	c.7116C>T	p.P2372P	Substitution - coding silent	Skin
COSM1620094	c.7224C>T	p.D2408D	Substitution - coding silent	Liver
COSM3853978	c.6116G>A	p.R2039H	Substitution - Missense	Stomach
COSM4419035	c.1749G>A	p.E583E	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM4419035	c.1749G>A	p.E583E	Substitution - coding silent	Soft_tissue
COSM3853982	c.6464-2A>G	p.?	Unknown	Stomach
COSM4585723	c.1149C>T	p.I383I	Substitution - coding silent	Large_intestine
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM1194435	c.1954A>G	p.I652V	Substitution - Missense	Lung
COSM4927453	c.6719C>A	p.S2240*	Substitution - Nonsense	Liver
COSM4988879	c.3106G>C	p.A1036P	Substitution - Missense	Soft_tissue
COSM5548841	c.5180C>T	p.A1727V	Substitution - Missense	Prostate
COSM1741809	c.4966+6G>C	p.?	Unknown	Urinary_tract
COSM4988877	c.2071G>A	p.A691T	Substitution - Missense	Soft_tissue
COSM1066227	c.2802C>A	p.V934V	Substitution - coding silent	Endometrium
COSM3696844	c.5565A>T	p.R1855S	Substitution - Missense	Large_intestine
COSM5443544	c.5916G>C	p.V1972V	Substitution - coding silent	Oesophagus
COSM3702785	c.1495G>C	p.A499P	Substitution - Missense	Liver
COSM1436255	c.709delA	p.N238fs*23	Deletion - Frameshift	Large_intestine
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM3853986	c.7402C>T	p.R2468W	Substitution - Missense	Stomach
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM4914990	c.291T>G	p.F97L	Substitution - Missense	Liver
COSM1066209	c.1492C>T	p.R498*	Substitution - Nonsense	Skin
COSM1066248	c.3747G>T	p.K1249N	Substitution - Missense	Endometrium
COSM3853958	c.3730A>G	p.I1244V	Substitution - Missense	Stomach
COSM3341149	c.4421A>C	p.Q1474P	Substitution - Missense	Large_intestine
COSM4708357	c.7752C>T	p.V2584V	Substitution - coding silent	Large_intestine
COSM5019785	c.3705T>C	p.N1235N	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1194585	c.3331G>T	p.D1111Y	Substitution - Missense	Lung
COSM3614502	c.2865T>C	p.V955V	Substitution - coding silent	Skin
COSM126839	c.5130C>A	p.C1710*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM3853950	c.1732G>T	p.A578S	Substitution - Missense	Stomach
COSM5985237	c.7573G>A	p.D2525N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4418709	c.2176T>C	p.S726P	Substitution - Missense	Soft_tissue
COSM4418709	c.2176T>C	p.S726P	Substitution - Missense	Soft_tissue
COSM3853974	c.5680C>T	p.R1894C	Substitution - Missense	Stomach
COSM71885	c.7259C>G	p.P2420R	Substitution - Missense	Ovary
COSM1066263	c.4621C>G	p.L1541V	Substitution - Missense	Endometrium
COSM4418709	c.2176T>C	p.S726P	Substitution - Missense	Soft_tissue
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM4800691	c.2891A>G	p.N964S	Substitution - Missense	Liver
COSM5563362	c.5552A>G	p.Q1851R	Substitution - Missense	Prostate
COSM1066196	c.820A>C	p.I274L	Substitution - Missense	Endometrium
COSM26994	c.6879A>G	p.L2293L	Substitution - coding silent	Kidney
COSM3614510	c.5441C>T	p.P1814L	Substitution - Missense	Skin
COSM3853968	c.5005C>T	p.H1669Y	Substitution - Missense	Stomach
COSM1066293	c.5957G>A	p.R1986H	Substitution - Missense	Endometrium
COSM4420957	c.5968G>C	p.E1990Q	Substitution - Missense	Prostate
COSM1672149	c.7875G>T	p.W2625C	Substitution - Missense	Large_intestine
COSM5518633	c.5788C>T	p.R1930C	Substitution - Missense	Biliary_tract
COSM3614514	c.6031C>T	p.P2011S	Substitution - Missense	Skin
COSM4992294	c.2226C>T	p.P742P	Substitution - coding silent	Skin
COSM1217942	c.6199A>G	p.K2067E	Substitution - Missense	Large_intestine
COSM1066290	c.5900T>G	p.F1967C	Substitution - Missense	Endometrium
COSM4992292	c.1192C>T	p.L398F	Substitution - Missense	Skin
COSM3341251	c.7130A>C	p.K2377T	Substitution - Missense	Large_intestine
COSM3341235	c.6595C>T	p.R2199C	Substitution - Missense	Large_intestine
COSM1724163	c.5628C>T	p.N1876N	Substitution - coding silent	Skin
COSM1754203	c.7503G>A	p.P2501P	Substitution - coding silent	Urinary_tract
COSM4654918	c.2715C>A	p.Y905*	Substitution - Nonsense	Large_intestine
COSM3340997	c.302A>C	p.E101A	Substitution - Missense	Upper_aerodigestive_tract
COSM1754197	c.2483C>T	p.S828F	Substitution - Missense	Urinary_tract
COSM3341243	c.6924C>T	p.S2308S	Substitution - coding silent	Skin
COSM4386945	c.3140C>G	p.A1047G	Substitution - Missense	Lung
COSM1217934	c.5785G>T	p.G1929W	Substitution - Missense	Large_intestine
COSM3697158	c.5950C>T	p.R1984*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM150018	c.339C>T	p.C113C	Substitution - coding silent	Stomach
COSM5459191	c.3475C>T	p.R1159W	Substitution - Missense	Large_intestine
COSM4427849	c.5965C>A	p.Q1989K	Substitution - Missense	Oesophagus
COSM5065044	c.4444C>T	p.Q1482*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4788379	c.1119T>A	p.S373S	Substitution - coding silent	Liver
COSM3429309	c.3537G>T	p.E1179D	Substitution - Missense	Large_intestine
COSM276400	c.1176C>T	p.F392F	Substitution - coding silent	Large_intestine
COSM4776062	c.6656G>A	p.R2219H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5459189	c.865T>G	p.L289V	Substitution - Missense	Large_intestine
COSM1642689	c.816C>T	p.N272N	Substitution - coding silent	Stomach
COSM4384048	c.946T>G	p.S316A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM737590	c.6022G>A	p.D2008N	Substitution - Missense	Lung
COSM5403152	c.4001C>T	p.S1334F	Substitution - Missense	Skin
COSM3614492	c.103G>A	p.G35S	Substitution - Missense	Skin
COSM1311007	c.2517G>A	p.L839L	Substitution - coding silent	Urinary_tract
COSM4708345	c.2586C>T	p.S862S	Substitution - coding silent	Large_intestine
COSM262472	c.4366G>T	p.D1456Y	Substitution - Missense	Large_intestine
COSM4517884	c.4532_4533CC>TT	p.P1511L	Substitution - Missense	Skin
COSM4418709	c.2176T>C	p.S726P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3341117	c.3380T>G	p.L1127R	Substitution - Missense	Central_nervous_system
COSM1066209	c.1492C>T	p.R498*	Substitution - Nonsense	Endometrium
COSM5368546	c.6986T>G	p.L2329R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4973818	c.6275C>T	p.T2092M	Substitution - Missense	Oesophagus
COSM1166637	c.5912A>G	p.Y1971C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1754201	c.3918C>G	p.H1306Q	Substitution - Missense	Urinary_tract
COSM4384098	c.7367T>C	p.M2456T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4585723	c.1149C>T	p.I383I	Substitution - coding silent	Bone
COSM4921833	c.4547A>G	p.E1516G	Substitution - Missense	Liver
COSM4419035	c.1749G>A	p.E583E	Substitution - coding silent	Soft_tissue
COSM3614494	c.328C>T	p.P110S	Substitution - Missense	Skin
COSM4421341	c.5842C>T	p.R1948C	Substitution - Missense	Pleura
COSM1239637	c.4966+2T>C	p.?	Unknown	Oesophagus
COSM1754199	c.3276G>C	p.Q1092H	Substitution - Missense	Urinary_tract
COSM4384040	c.20T>C	p.L7P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5003316	c.4024C>A	p.P1342T	Substitution - Missense	Pancreas
COSM283396	c.4163A>C	p.E1388A	Substitution - Missense	Large_intestine
COSM3341163	c.4774A>G	p.T1592A	Substitution - Missense	Large_intestine
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM4849111	c.1874G>C	p.G625A	Substitution - Missense	Cervix
COSM4518628	c.7244_7245CC>TT	p.S2415F	Substitution - Missense	Skin
COSM3947301	c.1433C>G	p.S478*	Substitution - Nonsense	Lung
COSM4419702	c.1482C>T	p.C494C	Substitution - coding silent	Soft_tissue
COSM5996428	c.4579G>T	p.A1527S	Substitution - Missense	Prostate
COSM276400	c.1176C>T	p.F392F	Substitution - coding silent	Endometrium
COSM4517577	c.3760_3761CC>TT	p.P1254F	Substitution - Missense	Skin
COSM3853972	c.5270G>T	p.R1757M	Substitution - Missense	Stomach
COSM1259603	c.6118G>A	p.V2040I	Substitution - Missense	Oesophagus
COSM3715047	c.2873C>T	p.S958L	Substitution - Missense	Upper_aerodigestive_tract
COSM128640	c.3698delG	p.L1234fs*1	Deletion - Frameshift	Upper_aerodigestive_tract
COSM737602	c.3161G>C	p.R1054T	Substitution - Missense	Lung
COSM1066320	c.7908C>G	p.L2636L	Substitution - coding silent	Endometrium
COSM1567767	c.5432G>A	p.R1811Q	Substitution - Missense	Large_intestine
COSM3853960	c.4127C>A	p.P1376H	Substitution - Missense	Stomach
COSM3341145	c.4347T>C	p.C1449C	Substitution - coding silent	Large_intestine
COSM3341127	c.3717A>G	p.K1239K	Substitution - coding silent	Large_intestine
COSM1066233	c.3205C>T	p.Q1069*	Substitution - Nonsense	Endometrium
COSM3340999	c.325A>T	p.T109S	Substitution - Missense	Upper_aerodigestive_tract
COSM1754203	c.7503G>A	p.P2501P	Substitution - coding silent	Urinary_tract
COSM4987204	c.1840G>T	p.V614L	Substitution - Missense	Soft_tissue
COSM3715047	c.2873C>T	p.S958L	Substitution - Missense	Upper_aerodigestive_tract
COSM4418709	c.2176T>C	p.S726P	Substitution - Missense	Soft_tissue
COSM4419702	c.1482C>T	p.C494C	Substitution - coding silent	Soft_tissue
COSM144830	c.5177C>T	p.P1726L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM283394	c.3810G>T	p.E1270D	Substitution - Missense	Large_intestine
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM3614506	c.3309C>T	p.D1103D	Substitution - coding silent	Skin
COSM4987204	c.1840G>T	p.V614L	Substitution - Missense	Soft_tissue
COSM5702597	c.7147G>T	p.G2383C	Substitution - Missense	Central_nervous_system
COSM1259601	c.1446T>C	p.D482D	Substitution - coding silent	Oesophagus
COSM4384082	c.4049C>T	p.P1350L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM276402	c.2183T>C	p.V728A	Substitution - Missense	Large_intestine
COSM5011556	c.5671G>T	p.E1891*	Substitution - Nonsense	Kidney
COSM3341113	c.3281T>C	p.M1094T	Substitution - Missense	Large_intestine
COSM1217940	c.4707G>T	p.E1569D	Substitution - Missense	Large_intestine
COSM1620092	c.3920A>C	p.K1307T	Substitution - Missense	Liver
COSM3429313	c.5122A>T	p.S1708C	Substitution - Missense	Large_intestine
COSM1436263	c.2903A>G	p.K968R	Substitution - Missense	Prostate
COSM1066224	c.2297C>T	p.S766L	Substitution - Missense	Endometrium
COSM257562	c.722G>T	p.R241I	Substitution - Missense	Large_intestine
COSM1217944	c.1025G>A	p.C342Y	Substitution - Missense	Large_intestine
COSM5403158	c.5770G>A	p.V1924M	Substitution - Missense	Skin
COSM4708351	c.3348A>G	p.Q1116Q	Substitution - coding silent	Large_intestine
COSM2152856	c.2905G>A	p.G969R	Substitution - Missense	Central_nervous_system
COSM1754205	c.7740G>A	p.A2580A	Substitution - coding silent	Urinary_tract
COSM249592	c.3835A>C	p.K1279Q	Substitution - Missense	Kidney
COSM1486626	c.12C>T	p.T4T	Substitution - coding silent	Breast
COSM4708347	c.2766G>A	p.T922T	Substitution - coding silent	Large_intestine
COSM462001	c.5036C>G	p.S1679*	Substitution - Nonsense	Cervix
COSM3827763	c.6440T>G	p.L2147R	Substitution - Missense	Breast
COSM4419035	c.1749G>A	p.E583E	Substitution - coding silent	Soft_tissue
COSM4988881	c.6750G>A	p.M2250I	Substitution - Missense	Soft_tissue
COSM3341243	c.6924C>T	p.S2308S	Substitution - coding silent	Skin
COSM5893065	c.3132C>A	p.N1044K	Substitution - Missense	Skin
COSM1066275	c.5043C>A	p.I1681I	Substitution - coding silent	Endometrium
COSM1436267	c.4001C>A	p.S1334Y	Substitution - Missense	Large_intestine
COSM136514	c.6542C>T	p.S2181F	Substitution - Missense	Skin
COSM4426524	c.4378+1_4378+4delGTGA	p.?	Unknown	Oesophagus
COSM3827761	c.6364T>G	p.F2122V	Substitution - Missense	Breast
COSM1741807	c.4794G>C	p.Q1598H	Substitution - Missense	Urinary_tract
COSM4748091	c.5503delA	p.A1837fs*12	Deletion - Frameshift	Stomach
COSM3947305	c.3763A>T	p.S1255C	Substitution - Missense	Lung
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM3341015	c.589A>C	p.T197P	Substitution - Missense	Upper_aerodigestive_tract
COSM4429487	c.5237A>G	p.N1746S	Substitution - Missense	Oesophagus
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM3827749	c.2968G>T	p.E990*	Substitution - Nonsense	Breast
COSM4005985	c.776C>T	p.S259L	Substitution - Missense	Oesophagus
COSM4849032	c.1930G>A	p.D644N	Substitution - Missense	Cervix
COSM4894474	c.5559G>A	p.E1853E	Substitution - coding silent	Skin
COSM3853946	c.768C>T	p.A256A	Substitution - coding silent	Stomach
COSM1066221	c.2007C>T	p.F669F	Substitution - coding silent	Endometrium
COSM4419702	c.1482C>T	p.C494C	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM3661732	c.7240T>G	p.L2414V	Substitution - Missense	Liver
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM5617279	c.4766-10G>A	p.?	Unknown	Lung
COSM3733671	c.6431C>T	p.A2144V	Substitution - Missense	Pancreas
COSM3614512	c.5448G>A	p.M1816I	Substitution - Missense	Skin
COSM4856730	c.1450G>C	p.E484Q	Substitution - Missense	Cervix
COSM1186909	c.3706G>A	p.V1236I	Substitution - Missense	Lung
COSM5975531	c.2308G>A	p.G770S	Substitution - Missense	Upper_aerodigestive_tract
COSM4708343	c.1345T>A	p.L449M	Substitution - Missense	Large_intestine
COSM1582040	c.5356_5360delAAGAT	p.K1786fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3341097	c.3091C>T	p.R1031*	Substitution - Nonsense	Oesophagus
COSM3827753	c.4211G>A	p.R1404H	Substitution - Missense	Breast
COSM4384084	c.4858G>A	p.V1620I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4992298	c.4446_4447delGT	p.C1483fs*1	Deletion - Frameshift	Skin
COSM3341243	c.6924C>T	p.S2308S	Substitution - coding silent	Skin
COSM5896768	c.2213T>C	p.L738P	Substitution - Missense	Skin
COSM1066257	c.4467T>C	p.D1489D	Substitution - coding silent	Endometrium
COSM4824355	c.6897C>T	p.L2299L	Substitution - coding silent	Cervix
COSM4159761	c.6903G>C	p.G2301G	Substitution - coding silent	Soft_tissue
COSM124866	c.5951G>A	p.R1984Q	Substitution - Missense	Upper_aerodigestive_tract
COSM482572	c.4189C>G	p.P1397A	Substitution - Missense	Kidney
COSM4987204	c.1840G>T	p.V614L	Substitution - Missense	Oesophagus
COSM449383	c.7317G>A	p.L2439L	Substitution - coding silent	Breast
COSM3827765	c.6479C>T	p.P2160L	Substitution - Missense	Breast
COSM1496041	c.3032G>C	p.S1011T	Substitution - Missense	Kidney
COSM5986294	c.1085G>A	p.R362Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3919752	c.7057C>T	p.P2353S	Substitution - Missense	Skin
COSM737596	c.4642-1G>C	p.?	Unknown	Lung
COSM4856141	c.1273G>T	p.V425F	Substitution - Missense	Cervix
COSM5019785	c.3705T>C	p.N1235N	Substitution - coding silent	Soft_tissue
COSM4767675	c.7438G>A	p.D2480N	Substitution - Missense	Biliary_tract
COSM4384096	c.6968C>T	p.A2323V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4767675	c.7438G>A	p.D2480N	Substitution - Missense	Biliary_tract
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM4418709	c.2176T>C	p.S726P	Substitution - Missense	Soft_tissue
COSM4856830	c.3406G>A	p.E1136K	Substitution - Missense	Cervix
COSM5893067	c.3133C>T	p.R1045C	Substitution - Missense	Skin
COSM482566	c.1236+2T>C	p.?	Unknown	Kidney
COSM5019444	c.3564G>C	p.R1188S	Substitution - Missense	Soft_tissue
COSM4849102	c.2201A>G	p.K734R	Substitution - Missense	Cervix
COSM4987204	c.1840G>T	p.V614L	Substitution - Missense	Soft_tissue
COSM4965874	c.7652C>A	p.P2551Q	Substitution - Missense	Pancreas
COSM1066299	c.6050G>A	p.R2017Q	Substitution - Missense	Endometrium
COSM1217938	c.7897C>T	p.R2633W	Substitution - Missense	Large_intestine
COSM1436261	c.2796C>G	p.N932K	Substitution - Missense	Large_intestine
COSM5508823	c.2038A>C	p.K680Q	Substitution - Missense	Biliary_tract
COSM246117	c.4978C>T	p.R1660C	Substitution - Missense	Prostate
COSM145694	c.6085A>G	p.T2029A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM4849142	c.2592G>A	p.L864L	Substitution - coding silent	Cervix
COSM5060968	c.6596G>A	p.R2199H	Substitution - Missense	Stomach
COSM6012159	c.438C>T	p.I146I	Substitution - coding silent	Skin
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM1496039	c.4871C>A	p.P1624Q	Substitution - Missense	Kidney
COSM5713882	c.6157G>A	p.E2053K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4419035	c.1749G>A	p.E583E	Substitution - coding silent	Oesophagus
COSM4984477	c.1861C>T	p.L621F	Substitution - Missense	Oesophagus
COSM283390	c.1019G>T	p.R340M	Substitution - Missense	Large_intestine
COSM4416947	c.1840G>C	p.V614L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1066308	c.7055G>T	p.R2352I	Substitution - Missense	Endometrium
COSM4384076	c.3330C>A	p.F1110L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM737612	c.1766C>G	p.S589C	Substitution - Missense	Lung
COSM3341243	c.6924C>T	p.S2308S	Substitution - coding silent	Skin
COSM4823821	c.596C>T	p.S199L	Substitution - Missense	Cervix
COSM1066278	c.5423A>G	p.H1808R	Substitution - Missense	Endometrium
COSM1436275	c.5139C>T	p.C1713C	Substitution - coding silent	Large_intestine
COSM1642693	c.5887delA	p.K1964fs*5	Deletion - Frameshift	Stomach
COSM5985233	c.4899C>A	p.F1633L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4917450	c.7867A>C	p.S2623R	Substitution - Missense	Liver
COSM3853980	c.6317A>T	p.K2106M	Substitution - Missense	Stomach
COSM3994204	c.811T>G	p.L271V	Substitution - Missense	Kidney
COSM5020996	c.5781C>G	p.A1927A	Substitution - coding silent	Soft_tissue
COSM3715051	c.5732G>T	p.C1911F	Substitution - Missense	Upper_aerodigestive_tract
COSM5910461	c.2428T>A	p.C810S	Substitution - Missense	Skin
COSM5720515	c.6635C>T	p.P2212L	Substitution - Missense	Skin
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM213290	c.7900G>T	p.A2634S	Substitution - Missense	Breast
COSM4384090	c.6418A>T	p.K2140*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5720515	c.6635C>T	p.P2212L	Substitution - Missense	Skin
COSM145694	c.6085A>G	p.T2029A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4585723	c.1149C>T	p.I383I	Substitution - coding silent	Large_intestine
COSM4384074	c.3104C>A	p.S1035*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5950214	c.4967G>T	p.G1656V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1311011	c.5319G>C	p.E1773D	Substitution - Missense	Urinary_tract
COSM4819570	c.3654G>A	p.L1218L	Substitution - coding silent	Cervix
COSM3614498	c.2111T>A	p.I704N	Substitution - Missense	Skin
COSM5419418	c.6788C>T	p.S2263L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4849128	c.2532G>A	p.E844E	Substitution - coding silent	Cervix
COSM293771	c.6999C>A	p.P2333P	Substitution - coding silent	Large_intestine
COSM1672145	c.3363A>C	p.K1121N	Substitution - Missense	Large_intestine
COSM4384066	c.2650C>T	p.P884S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5020618	c.4522G>T	p.A1508S	Substitution - Missense	Soft_tissue
COSM5016854	c.2781G>C	p.L927F	Substitution - Missense	Kidney
COSM4800691	c.2891A>G	p.N964S	Substitution - Missense	Liver
COSM482578	c.7980G>A	p.Q2660Q	Substitution - coding silent	Kidney
COSM5975533	c.2835T>C	p.S945S	Substitution - coding silent	Upper_aerodigestive_tract
COSM482564	c.959A>G	p.K320R	Substitution - Missense	Kidney
COSM4605164	c.3394G>T	p.G1132*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM4384070	c.2912G>A	p.G971D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4420027	c.3067C>A	p.R1023R	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM482562	c.295G>A	p.D99N	Substitution - Missense	Kidney
COSM1066260	c.4603C>T	p.R1535C	Substitution - Missense	Endometrium
COSM1436269	c.4569C>T	p.P1523P	Substitution - coding silent	Large_intestine
COSM4987204	c.1840G>T	p.V614L	Substitution - Missense	Soft_tissue
COSM4856760	c.1957G>A	p.E653K	Substitution - Missense	Cervix
COSM5621403	c.508C>A	p.P170T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1486630	c.2503G>T	p.G835C	Substitution - Missense	Breast
COSM365337	c.5458G>A	p.V1820M	Substitution - Missense	Lung
COSM1581357	c.2203G>A	p.A735T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4849078	c.1927G>A	p.D643N	Substitution - Missense	Cervix
COSM3341129	c.3778G>T	p.A1260S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5910463	c.2427G>T	p.E809D	Substitution - Missense	Skin
COSM4159761	c.6903G>C	p.G2301G	Substitution - coding silent	Thyroid
COSM5403160	c.7387C>T	p.P2463S	Substitution - Missense	Skin
COSM4776062	c.6656G>A	p.R2219H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3827757	c.5763C>G	p.H1921Q	Substitution - Missense	Breast
COSM3994210	c.6651G>T	p.E2217D	Substitution - Missense	Kidney
COSM4411791	c.6078C>T	p.N2026N	Substitution - coding silent	Oesophagus
COSM4849076	c.2340G>C	p.S780S	Substitution - coding silent	Cervix
COSM3722831	c.6094T>C	p.W2032R	Substitution - Missense	Upper_aerodigestive_tract
COSM3614520	c.7581G>A	p.W2527*	Substitution - Nonsense	Skin
COSM5893067	c.3133C>T	p.R1045C	Substitution - Missense	Skin
COSM3947299	c.628G>C	p.E210Q	Substitution - Missense	Lung
COSM3919750	c.7007T>G	p.V2336G	Substitution - Missense	Skin
COSM5346171	c.4036delG	p.E1346fs*26	Deletion - Frameshift	Urinary_tract
COSM4185422	c.842A>G	p.D281G	Substitution - Missense	Kidney
COSM3341173	c.4961C>G	p.S1654C	Substitution - Missense	Prostate
COSM4585723	c.1149C>T	p.I383I	Substitution - coding silent	Large_intestine
COSM4987204	c.1840G>T	p.V614L	Substitution - Missense	Soft_tissue
COSM5038863	c.6664_6665ins18	p.P2230_G2231insPVPLPP	Insertion - In frame	Liver
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM395297	c.2049G>A	p.K683K	Substitution - coding silent	Lung
COSM5621405	c.6451A>G	p.K2151E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3853952	c.2927C>A	p.A976D	Substitution - Missense	Stomach
COSM1328888	c.3959G>A	p.R1320Q	Substitution - Missense	Ovary
COSM3947303	c.2861A>T	p.K954M	Substitution - Missense	Lung
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM283392	c.3639A>G	p.I1213M	Substitution - Missense	Large_intestine
COSM232909	c.6794C>T	p.S2265F	Substitution - Missense	Skin
COSM4384050	c.1079C>T	p.P360L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3919744	c.5389C>T	p.L1797F	Substitution - Missense	Skin
COSM3941259	c.7003C>G	p.P2335A	Substitution - Missense	Oesophagus
COSM4419702	c.1482C>T	p.C494C	Substitution - coding silent	Soft_tissue
COSM4952542	c.6044A>G	p.Y2015C	Substitution - Missense	Liver
COSM1066199	c.1001G>A	p.R334H	Substitution - Missense	Endometrium
COSM482570	c.2418A>C	p.I806I	Substitution - coding silent	Kidney
COSM4848495	c.5036C>A	p.S1679*	Substitution - Nonsense	Cervix
COSM5985235	c.7352G>A	p.R2451K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3341197	c.5392delT	p.F1799fs*22	Deletion - Frameshift	Large_intestine
COSM1066299	c.6050G>A	p.R2017Q	Substitution - Missense	Upper_aerodigestive_tract
COSM1166659	c.1589C>T	p.P530L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3853966	c.4759C>T	p.R1587C	Substitution - Missense	Stomach
COSM3941255	c.135G>C	p.G45G	Substitution - coding silent	Oesophagus
COSM5737437	c.4748G>A	p.C1583Y	Substitution - Missense	Small_intestine
COSM4992300	c.4487C>T	p.P1496L	Substitution - Missense	Skin
COSM5679756	c.3359G>T	p.G1120V	Substitution - Missense	Soft_tissue
COSM1066311	c.7391G>A	p.R2464H	Substitution - Missense	Endometrium
COSM3614508	c.5439C>T	p.F1813F	Substitution - coding silent	Skin
COSM4605652	c.5892+1G>T	p.?	Unknown	Upper_aerodigestive_tract
COSM1436283	c.6430G>A	p.A2144T	Substitution - Missense	Large_intestine
COSM1642691	c.1968_1969delAG	p.E657fs*2	Deletion - Frameshift	Stomach
COSM4856840	c.3417T>A	p.S1139S	Substitution - coding silent	Cervix
COSM5019785	c.3705T>C	p.N1235N	Substitution - coding silent	Soft_tissue
COSM449381	c.252A>G	p.V84V	Substitution - coding silent	Breast
COSM4765491	c.1722_1723insA	p.N576fs*8	Insertion - Frameshift	Stomach
COSM4384044	c.638G>A	p.S213N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384060	c.1976A>G	p.D659G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1066284	c.5617A>G	p.I1873V	Substitution - Missense	Endometrium
COSM1672149	c.7875G>T	p.W2625C	Substitution - Missense	Large_intestine
COSM1066287	c.5740C>T	p.R1914C	Substitution - Missense	Endometrium
COSM4992304	c.5581C>T	p.R1861*	Substitution - Nonsense	Skin
COSM3614500	c.2612C>T	p.S871F	Substitution - Missense	Skin
COSM1066272	c.4878T>G	p.T1626T	Substitution - coding silent	Endometrium
COSM1066305	c.6620C>A	p.P2207H	Substitution - Missense	Endometrium
COSM3853956	c.3579T>C	p.S1193S	Substitution - coding silent	Stomach
COSM1066266	c.4781T>G	p.F1594C	Substitution - Missense	Endometrium
COSM3341139	c.4050G>A	p.P1350P	Substitution - coding silent	Stomach
COSM5982060	c.6004_6009+6delGACAAAGTAAGT	p.?	Unknown	Upper_aerodigestive_tract
COSM5351179	c.5198G>T	p.C1733F	Substitution - Missense	Lung
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Liver
COSM4987204	c.1840G>T	p.V614L	Substitution - Missense	Skin
COSM5948812	c.4091G>A	p.G1364E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1066206	c.1483G>A	p.A495T	Substitution - Missense	Endometrium
COSM5985235	c.7352G>A	p.R2451K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1066193	c.812T>C	p.L271S	Substitution - Missense	Endometrium
COSM5931693	c.4258C>T	p.P1420S	Substitution - Missense	Skin
COSM1311005	c.460G>C	p.E154Q	Substitution - Missense	Urinary_tract
COSM591562	c.1457C>G	p.S486C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4917374	c.7992T>C	p.S2664S	Substitution - coding silent	Liver
COSM4159761	c.6903G>C	p.G2301G	Substitution - coding silent	Soft_tissue
COSM5060966	c.6047C>T	p.A2016V	Substitution - Missense	Stomach
COSM5893065	c.3132C>A	p.N1044K	Substitution - Missense	Skin
COSM3853970	c.5199C>T	p.C1733C	Substitution - coding silent	Stomach
COSM4899495	c.1377C>T	p.D459D	Substitution - coding silent	Skin
COSM737610	c.2016A>T	p.T672T	Substitution - coding silent	Lung
COSM3853964	c.4488A>G	p.P1496P	Substitution - coding silent	Stomach
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM1581353	c.1544A>T	p.H515L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4763645	c.2332T>G	p.L778V	Substitution - Missense	Stomach
COSM4384100	c.7817delC	p.P2607fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM127160	c.4192+1G>T	p.?	Unknown	Upper_aerodigestive_tract
COSM4159761	c.6903G>C	p.G2301G	Substitution - coding silent	Soft_tissue
COSM3853976	c.5854C>T	p.R1952W	Substitution - Missense	Stomach
COSM4384072	c.3097G>A	p.A1033T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5786566	c.634G>C	p.D212H	Substitution - Missense	Breast
COSM283388	c.29G>T	p.R10I	Substitution - Missense	Large_intestine
COSM3373813	c.1538A>G	p.K513R	Substitution - Missense	Thyroid
COSM1066254	c.3965G>A	p.R1322Q	Substitution - Missense	Endometrium
COSM3341247	c.7067C>T	p.T2356M	Substitution - Missense	Oesophagus
COSM3341243	c.6924C>T	p.S2308S	Substitution - coding silent	Skin
COSM5019785	c.3705T>C	p.N1235N	Substitution - coding silent	Soft_tissue
COSM4603827	c.6470delG	p.E2158fs*136	Deletion - Frameshift	Upper_aerodigestive_tract
COSM4159761	c.6903G>C	p.G2301G	Substitution - coding silent	Soft_tissue
COSM1066317	c.7769C>T	p.P2590L	Substitution - Missense	Endometrium
COSM1066212	c.1634C>T	p.T545M	Substitution - Missense	Endometrium
COSM1644835	c.4289G>C	p.G1430A	Substitution - Missense	Salivary_gland
COSM4952542	c.6044A>G	p.Y2015C	Substitution - Missense	Liver
COSM5949173	c.1011G>A	p.W337*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1659925	c.111C>A	p.S37S	Substitution - coding silent	Kidney
COSM5795102	c.2362C>G	p.R788G	Substitution - Missense	Breast
COSM1328886	c.6152-2A>C	p.?	Unknown	Ovary
COSM3341127	c.3717A>G	p.K1239K	Substitution - coding silent	Large_intestine
COSM4159761	c.6903G>C	p.G2301G	Substitution - coding silent	Soft_tissue
COSM1486628	c.1964G>A	p.S655N	Substitution - Missense	Breast
COSM5918714	c.1114C>T	p.P372S	Substitution - Missense	Skin
COSM3697160	c.6662A>G	p.Y2221C	Substitution - Missense	Large_intestine
COSM3661732	c.7240T>G	p.L2414V	Substitution - Missense	Liver
COSM4427012	c.499G>C	p.E167Q	Substitution - Missense	Oesophagus
COSM1754205	c.7740G>A	p.A2580A	Substitution - coding silent	Urinary_tract
COSM737598	c.4411C>T	p.R1471*	Substitution - Nonsense	Lung
COSM4992296	c.3930C>T	p.S1310S	Substitution - coding silent	Skin
COSM4585725	c.3092G>A	p.R1031Q	Substitution - Missense	Bone
COSM1672149	c.7875G>T	p.W2625C	Substitution - Missense	Large_intestine
COSM3340999	c.325A>T	p.T109S	Substitution - Missense	Upper_aerodigestive_tract
COSM4988881	c.6750G>A	p.M2250I	Substitution - Missense	Soft_tissue
COSM4603760	c.2400delG	p.A801fs*6	Deletion - Frameshift	Upper_aerodigestive_tract
COSM3429311	c.5019T>G	p.F1673L	Substitution - Missense	Large_intestine
COSM4418709	c.2176T>C	p.S726P	Substitution - Missense	Soft_tissue
COSM1672147	c.4552G>T	p.G1518C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4932078	c.2554A>G	p.I852V	Substitution - Missense	Liver
COSM5720515	c.6635C>T	p.P2212L	Substitution - Missense	Skin
COSM4384088	c.6323delG	p.T2109fs*41	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4708341	c.617C>T	p.A206V	Substitution - Missense	Large_intestine
COSM1259599	c.255G>A	p.E85E	Substitution - coding silent	Oesophagus
COSM4556515	c.6949G>A	p.D2317N	Substitution - Missense	Skin
COSM737606	c.2919G>C	p.Q973H	Substitution - Missense	Lung
COSM4419702	c.1482C>T	p.C494C	Substitution - coding silent	Soft_tissue
COSM4992302	c.5382C>T	p.F1794F	Substitution - coding silent	Skin
COSM5979107	c.3001G>A	p.D1001N	Substitution - Missense	Upper_aerodigestive_tract
COSM5574825	c.7163C>T	p.P2388L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3614516	c.6923C>T	p.S2308F	Substitution - Missense	Skin
COSM4005987	c.6782T>C	p.M2261T	Substitution - Missense	Urinary_tract
COSM3715049	c.5431C>T	p.R1811*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM3661732	c.7240T>G	p.L2414V	Substitution - Missense	Biliary_tract
COSM1066302	c.6380C>T	p.A2127V	Substitution - Missense	Endometrium
COSM1754199	c.3276G>C	p.Q1092H	Substitution - Missense	Urinary_tract
COSM4418709	c.2176T>C	p.S726P	Substitution - Missense	Soft_tissue
COSM1066251	c.3817C>T	p.R1273C	Substitution - Missense	Endometrium
COSM5886418	c.5864G>T	p.G1955V	Substitution - Missense	Skin
COSM4788379	c.1119T>A	p.S373S	Substitution - coding silent	Liver
COSM420766	c.5719A>G	p.I1907V	Substitution - Missense	Urinary_tract
COSM3919742	c.2858C>T	p.S953F	Substitution - Missense	Skin
COSM4159761	c.6903G>C	p.G2301G	Substitution - coding silent	Soft_tissue
COSM345735	c.6259-1G>C	p.?	Unknown	Lung
COSM737604	c.2981C>T	p.S994F	Substitution - Missense	Lung
COSM4640654	c.2133C>T	p.H711H	Substitution - coding silent	Large_intestine
COSM1436279	c.5532G>C	p.R1844S	Substitution - Missense	Large_intestine
COSM3661730	c.4680T>G	p.A1560A	Substitution - coding silent	Liver
COSM3947307	c.6476G>C	p.C2159S	Substitution - Missense	Lung
COSM5512184	c.218G>A	p.R73Q	Substitution - Missense	Biliary_tract
COSM3614504	c.3265G>A	p.D1089N	Substitution - Missense	Skin
COSM4159761	c.6903G>C	p.G2301G	Substitution - coding silent	Soft_tissue
COSM1436257	c.1319G>A	p.R440Q	Substitution - Missense	Large_intestine
COSM4992308	c.7568C>T	p.S2523L	Substitution - Missense	Skin
COSM302775	c.5910G>C	p.E1970D	Substitution - Missense	Central_nervous_system
COSM5561001	c.114T>A	p.N38K	Substitution - Missense	Prostate
COSM3341145	c.4347T>C	p.C1449C	Substitution - coding silent	Large_intestine
COSM420768	c.605G>A	p.G202D	Substitution - Missense	Urinary_tract
COSM5931695	c.6559C>T	p.R2187*	Substitution - Nonsense	Skin
COSM4185517	c.1600G>C	p.G534R	Substitution - Missense	Kidney
COSM1217936	c.4760G>A	p.R1587H	Substitution - Missense	Large_intestine
COSM4422182	c.2596G>C	p.E866Q	Substitution - Missense	Ovary
COSM1620094	c.7224C>T	p.D2408D	Substitution - coding silent	Liver
COSM3919746	c.5841C>T	p.F1947F	Substitution - coding silent	Skin
COSM482574	c.5145A>G	p.E1715E	Substitution - coding silent	Kidney
COSM4849037	c.2898G>A	p.E966E	Substitution - coding silent	Cervix
COSM4384054	c.1544A>G	p.H515R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1166637	c.5912A>G	p.Y1971C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM3614490	c.56C>T	p.P19L	Substitution - Missense	Skin
COSM3994208	c.5349C>T	p.N1783N	Substitution - coding silent	Kidney
COSM136514	c.6542C>T	p.S2181F	Substitution - Missense	Skin
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM4384086	c.5198G>A	p.C1733Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3853988	c.7635G>T	p.K2545N	Substitution - Missense	Stomach
COSM4763650	c.6886G>C	p.V2296L	Substitution - Missense	Stomach
COSM4708353	c.5918G>A	p.G1973D	Substitution - Missense	Large_intestine
COSM1066218	c.1837C>A	p.L613M	Substitution - Missense	Endometrium
COSM5807737	c.5960A>G	p.Y1987C	Substitution - Missense	Upper_aerodigestive_tract
COSM3827759	c.5932G>A	p.E1978K	Substitution - Missense	Breast
COSM3827747	c.2049G>T	p.K683N	Substitution - Missense	Breast
COSM3827745	c.26G>A	p.R9K	Substitution - Missense	Breast
COSM5996430	c.4580C>T	p.A1527V	Substitution - Missense	Prostate
COSM1217932	c.3512G>A	p.R1171H	Substitution - Missense	Large_intestine
COSM5060964	c.5741G>A	p.R1914H	Substitution - Missense	Stomach
COSM5026461	c.3781G>A	p.E1261K	Substitution - Missense	Breast
COSM145694	c.6085A>G	p.T2029A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4598375	c.6062A>G	p.H2021R	Substitution - Missense	Upper_aerodigestive_tract
COSM3341163	c.4774A>G	p.T1592A	Substitution - Missense	Large_intestine
COSM4384084	c.4858G>A	p.V1620I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1311013	c.5951G>T	p.R1984L	Substitution - Missense	Urinary_tract
COSM4849165	c.2017G>C	p.E673Q	Substitution - Missense	Cervix
COSM134102	c.7322C>T	p.P2441L	Substitution - Missense	Skin
COSM4384092	c.6673C>T	p.P2225S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3715045	c.1549C>T	p.Q517*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM4005985	c.776C>T	p.S259L	Substitution - Missense	Urinary_tract
COSM5720515	c.6635C>T	p.P2212L	Substitution - Missense	Skin
COSM737594	c.4919G>C	p.C1640S	Substitution - Missense	Lung
COSM5802638	c.113A>G	p.N38S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5459193	c.7562C>T	p.A2521V	Substitution - Missense	Large_intestine
COSM1239635	c.2850A>G	p.V950V	Substitution - coding silent	Oesophagus
COSM5403150	c.3345G>A	p.K1115K	Substitution - coding silent	Skin
COSM4603937	c.5391_5392insT	p.G1800fs*3	Insertion - Frameshift	Upper_aerodigestive_tract
COSM3341247	c.7067C>T	p.T2356M	Substitution - Missense	Stomach
COSM5731423	c.4012A>G	p.T1338A	Substitution - Missense	Central_nervous_system
COSM3381209	c.2309G>A	p.G770D	Substitution - Missense	Pancreas
COSM75655	c.5027C>A	p.A1676D	Substitution - Missense	Ovary
COSM420764	c.6850G>C	p.E2284Q	Substitution - Missense	Urinary_tract
COSM5432379	c.6023A>T	p.D2008V	Substitution - Missense	Oesophagus
COSM3853984	c.7180A>G	p.I2394V	Substitution - Missense	Stomach
COSM4397799	c.1191C>T	p.V397V	Substitution - coding silent	Skin
COSM1066296	c.5982T>G	p.T1994T	Substitution - coding silent	Endometrium
COSM3381209	c.2309G>A	p.G770D	Substitution - Missense	Pancreas
COSM1177184	c.1810C>T	p.R604*	Substitution - Nonsense	Endometrium
COSM1311009	c.3388G>C	p.E1130Q	Substitution - Missense	Urinary_tract
COSM4507980	c.7627C>T	p.P2543S	Substitution - Missense	Skin
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM4856607	c.3439G>A	p.E1147K	Substitution - Missense	Cervix
COSM235065	c.6795C>T	p.S2265S	Substitution - coding silent	Skin
COSM4605276	c.3921+2T>C	p.?	Unknown	Upper_aerodigestive_tract
COSM4604564	c.1828C>T	p.Q610*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM1328890	c.290T>A	p.F97Y	Substitution - Missense	Ovary
COSM5907361	c.7097G>A	p.G2366D	Substitution - Missense	Skin
COSM4642983	c.5580C>T	p.D1860D	Substitution - coding silent	Large_intestine
COSM3614518	c.7519G>A	p.G2507S	Substitution - Missense	Skin
COSM3715051	c.5732G>T	p.C1911F	Substitution - Missense	Upper_aerodigestive_tract
COSM4987204	c.1840G>T	p.V614L	Substitution - Missense	Soft_tissue
COSM3853948	c.1405G>T	p.D469Y	Substitution - Missense	Stomach
COSM1066215	c.1832G>T	p.R611L	Substitution - Missense	Endometrium
COSM737608	c.2620G>T	p.E874*	Substitution - Nonsense	Lung
COSM124865	c.5177C>A	p.P1726H	Substitution - Missense	Upper_aerodigestive_tract
COSM301463	c.5996_5997TC>GT	p.L1999R	Substitution - Missense	Large_intestine
COSM4419702	c.1482C>T	p.C494C	Substitution - coding silent	Soft_tissue
COSM5982818	c.2610A>T	p.R870S	Substitution - Missense	Upper_aerodigestive_tract
COSM4384068	c.2893T>G	p.S965A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5987797	c.2546C>T	p.S849L	Substitution - Missense	Salivary_gland
COSM262472	c.4366G>T	p.D1456Y	Substitution - Missense	Stomach
COSM4819888	c.3522G>A	p.M1174I	Substitution - Missense	Cervix
COSM3341175	c.4966G>T	p.G1656C	Substitution - Missense	Upper_aerodigestive_tract
COSM1066203	c.1452A>G	p.E484E	Substitution - coding silent	Endometrium
COSM4005987	c.6782T>C	p.M2261T	Substitution - Missense	Soft_tissue
COSM5908527	c.1067C>T	p.S356F	Substitution - Missense	Skin
COSM4418709	c.2176T>C	p.S726P	Substitution - Missense	Soft_tissue
COSM337161	c.2105C>A	p.P702H	Substitution - Missense	Large_intestine
COSM313373	c.6898G>A	p.A2300T	Substitution - Missense	Soft_tissue
COSM4603809	c.4359delT	p.S1454fs*33	Deletion - Frameshift	Upper_aerodigestive_tract
COSM3341123	c.3598C>T	p.R1200W	Substitution - Missense	Stomach
COSM4923148	c.215T>G	p.L72R	Substitution - Missense	Liver
COSM276400	c.1176C>T	p.F392F	Substitution - coding silent	Endometrium
COSM4384084	c.4858G>A	p.V1620I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4419702	c.1482C>T	p.C494C	Substitution - coding silent	Soft_tissue
COSM128701	c.5502_5503insA	p.A1837fs*10	Insertion - Frameshift	Upper_aerodigestive_tract
COSM5767573	c.3875T>G	p.F1292C	Substitution - Missense	Breast
COSM2152856	c.2905G>A	p.G969R	Substitution - Missense	Central_nervous_system
COSM313373	c.6898G>A	p.A2300T	Substitution - Missense	Lung
COSM5403156	c.5004C>T	p.Y1668Y	Substitution - coding silent	Skin
COSM5788263	c.4966+6G>T	p.?	Unknown	Breast
COSM3715049	c.5431C>T	p.R1811*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM1066187	c.97G>A	p.G33S	Substitution - Missense	Endometrium
COSM4384058	c.1906A>G	p.I636V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1727361	c.2465C>T	p.S822F	Substitution - Missense	Liver
COSM1436283	c.6430G>A	p.A2144T	Substitution - Missense	Stomach
COSM3341235	c.6595C>T	p.R2199C	Substitution - Missense	Large_intestine
COSM1066242	c.3484C>T	p.R1162C	Substitution - Missense	Endometrium
COSM4585727	c.7696A>G	p.T2566A	Substitution - Missense	Bone
COSM482576	c.6576C>T	p.F2192F	Substitution - coding silent	Kidney
COSM4384052	c.1126G>T	p.A376S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM230085	c.1990G>A	p.E664K	Substitution - Missense	Skin
COSM371966	c.3010G>T	p.D1004Y	Substitution - Missense	Lung
COSM4505417	c.6924C>A	p.S2308S	Substitution - coding silent	Skin
COSM1166637	c.5912A>G	p.Y1971C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5403154	c.4153_4154CC>TT	p.P1385F	Substitution - Missense	Skin
COSM4708349	c.3035G>A	p.R1012H	Substitution - Missense	Large_intestine
COSM4003461	c.6829T>C	p.L2277L	Substitution - coding silent	Soft_tissue
COSM4913547	c.60G>A	p.V20V	Substitution - coding silent	Liver
COSM4642983	c.5580C>T	p.D1860D	Substitution - coding silent	Skin
COSM1436287	c.6738G>T	p.Q2246H	Substitution - Missense	Large_intestine
COSM3965624	c.6280G>A	p.E2094K	Substitution - Missense	Oesophagus
COSM4792836	c.3658G>C	p.E1220Q	Substitution - Missense	Liver
COSM4384078	c.3361A>G	p.K1121E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4406161	c.823A>C	p.N275H	Substitution - Missense	Skin
COSM4384080	c.3698G>A	p.R1233Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5440693	c.6262C>T	p.Q2088*	Substitution - Nonsense	Oesophagus
COSM4384054	c.1544A>G	p.H515R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4708347	c.2766G>A	p.T922T	Substitution - coding silent	Prostate
COSM1066281	c.5604A>G	p.P1868P	Substitution - coding silent	Endometrium
COSM4856673	c.1499G>C	p.R500T	Substitution - Missense	Cervix
COSM1132198	c.1471G>A	p.E491K	Substitution - Missense	Prostate
COSM4605676	c.6050G>T	p.R2017L	Substitution - Missense	Upper_aerodigestive_tract
COSM5729308	c.1367C>T	p.P456L	Substitution - Missense	Skin
COSM1066245	c.3535G>T	p.E1179*	Substitution - Nonsense	Endometrium
COSM276400	c.1176C>T	p.F392F	Substitution - coding silent	Large_intestine
COSM5548841	c.5180C>T	p.A1727V	Substitution - Missense	Prostate
COSM673682	c.6653T>C	p.I2218T	Substitution - Missense	Endometrium
COSM4618499	c.3273T>G	p.L1091L	Substitution - coding silent	Large_intestine
COSM1066230	c.3100T>G	p.F1034V	Substitution - Missense	Endometrium
COSM3614496	c.1691C>T	p.A564V	Substitution - Missense	Skin
COSM4400611	c.1926T>A	p.S642S	Substitution - coding silent	Skin
COSM5904251	c.4121C>T	p.S1374F	Substitution - Missense	Skin
COSM4988879	c.3106G>C	p.A1036P	Substitution - Missense	Soft_tissue
COSM3941257	c.5726C>G	p.S1909C	Substitution - Missense	Oesophagus
COSM4384056	c.1558G>A	p.A520T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3919748	c.6376G>C	p.D2126H	Substitution - Missense	Skin
COSM124867	c.6371G>A	p.C2124Y	Substitution - Missense	Upper_aerodigestive_tract
COSM4159761	c.6903G>C	p.G2301G	Substitution - coding silent	Skin
COSM4384046	c.796A>G	p.T266A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3697158	c.5950C>T	p.R1984*	Substitution - Nonsense	Large_intestine
COSM4419035	c.1749G>A	p.E583E	Substitution - coding silent	Soft_tissue
COSM4384042	c.388C>T	p.P130S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1663152	c.5369A>G	p.D1790G	Substitution - Missense	Kidney
COSM4987204	c.1840G>T	p.V614L	Substitution - Missense	Soft_tissue
COSM6012161	c.802G>C	p.E268Q	Substitution - Missense	Skin
COSM4418709	c.2176T>C	p.S726P	Substitution - Missense	Soft_tissue

> Text Mining based Variations

[ TOP ]

PMID	Variation	Cancer	Evidence
17589499	mutation	Acute Myeloid Leukemia	In AML, the recurring t(5;11)(q35;p15.5) translocation fuses NSD1 to nucleoporin-98 (NUP98).
27187383	mutation	Peritoneal Malignant Mesothelioma	Four somatic base-substitutions in NOTCH2, NSD1, PDE4DIP, and ATP10B and 1 insert frameshift mutation in BAP1 were validated by the Sanger method at the transcriptional level.
26438511	mutation	Acute Myeloid Leukemia with FLT3/ITD Mutation	In addition, we identified mutations in previously unappreciated genes such as MLL3, NSD1, FAT1, FAT4, and IDH3B.
26071460	mutation	Acute Myeloid Leukemia with Myelodysplasia-Related Changes	Session 3 of the workshop cases displayed heterogeneity as expected within AML-MRC, yet several cases suggested that recently recognized entities may exist within this category, such as familial MDS/AML predisposition syndromes and rare cases of high-risk AML associated with the cryptic t(5;11)(q35;p15);NUP98-NSD1 that may masquerade as a del(5q).
25631445	mutation (loss of function)	Head and Neck Squamous Cell Carcinoma	Other distinct subgroups contained loss-of-function alterations of the chromatin modifier NSD1, WNT pathway genes AJUBA and FAT1, and activation of oxidative stress factor NFE2L2, mainly in laryngeal tumours.
25056374	mutation	HPV-negative Head and Neck Squamous Cell Carcinoma	HPV-negative tumors showed a mutational spectrum concordant with published lung squamous cell carcinoma analyses with enrichment for mutations in TP53, CDKN2A, MLL2, CUL3, NSD1, PIK3CA, and NOTCH genes.
24951466	mutation	Childhood Acute Myeloid Leukemia	The NUP98-NSD1 fusion, product of the t(5;11)(q35;p15.5) chromosomal translocation, is one of the most prevalent genetic alterations in cytogenetically normal pediatric acute myeloid leukemias and is associated with poor prognosis.
24927133	mutation	Acute Myeloid Leukemia	The NUP98-NSD1 fusion protein occurs in a highly aggressive subtype of acute myeloid leukemia after rearrangement of the genes NUP98 and NSD1.
23999921	mutation	Childhood Acute Myeloid Leukemia	The cytogenetically cryptic t(5;11)(q35;p15) leading to the NUP98-NSD1 fusion is a rare but recurrent gene rearrangement recently reported to identify a group of young AML patients with poor prognosis.
23630019	mutation	Childhood Acute Myeloid Leukemia	NUP98-NSD1 fusion transcripts were detected in 6 (4.8%) of 124 pediatric AML patients.
23531517	mutation	Acute Myeloid Leukemia	Recently, NUP98/NSD1 (t(5; 11)(q35; p15)), a cytogenetically cryptic fusion, was described as recurrent event in AML, characterized by dismal prognosis and HOXA/B gene overexpression.
22976956	mutation	Acute Myeloid Leukemia	While most of the newly identified alterations were nonrecurrent, we observed an enrichment of mutations affecting genes involved in epigenetic regulation including known candidates like TET2, TET1, DNMT3A, and DNMT1, as well as mutations in the histone methyltransferases NSD1, EZH2, and MLL3.
22832494	mutation (loss of function)	Skin Carcinoma	Our results show that inactivating mutations in Notch1 and Nsd1, among others, may have an important role in skin carcinogenesis.
21813447	mutation	Acute Myeloid Leukemia	Twenty-three cases harbored the NUP98/NSD1 fusion, representing 16.1% of pediatric and 2.3% of adult CN-AML patients.
15951287	mutation	Acute Myeloid Leukemia	Among the 59 AML patients, one NUP98-NSD1 positive case (1.7%) was detected. Two cases showed an inv(11)(p15q22)/NUP98-DDX10 fusion, one each displayed a t(5;11)(q35;p15)/NUP98-NSD1 and a t(11;20)(p15;q12)/NUP98-TOP1 fusion, and one case with a putative new fusion partner gene at 3p24 was identified.
12353270	mutation	Childhood Acute Myeloid Leukemia	The cryptic translocation t(5;11)(q35;p15.5), which creates a NSD1-NUP98 fusion gene, has been associated with a deletion of the long arm of chromosome 5, del(5q), in pediatric acute myeloid leukemia (AML) patients with differentiated phenotype.
11493482	mutation	Childhood Acute Myeloid Leukemia	By using 3'--rapid amplification of complementary DNA ends (3'-RACE) polymerase chain reaction, we identified a chimeric messenger RNA that results in the in-frame fusion of NUP98 to a novel gene, NSD1.
27283500	mutation	Thyroid Gland Follicular Carcinoma	New somatic alterations were identified in oncogenes (MDM2, FLI1), transcription factors and repressors (MITF, FLI1, ZNF331), epigenetic enzymes (KMT2A, NSD1, NCOA1, NCOA2), and protein kinases (JAK3, CHEK2, ALK).

Summary
Symbol	NSD1
Name	nuclear receptor binding SET domain protein 1
Aliases	ARA267; FLJ22263; KMT3B; STO; Sotos syndrome; SOTOS; SOTOS1; H3-K36-HMTase; H4-K20-HMTase; NR-binding SET do ......
Location	5q35.3
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)

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Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
Q96L73	483	S	Phosphoserine	-	No	None detected
Q96L73	486	S	Phosphoserine	-	Yes	p.S486C (cancer: LUAD)
Q96L73	766	S	Phosphoserine	-	Yes	p.S766L (cancer: UCEC)
Q96L73	1510	S	Phosphoserine	-	No	None detected
Q96L73	2369	S	Phosphoserine	-	No	None detected
Q96L73	2462	T	Phosphothreonine	-	No	None detected
Q96L73	2471	S	Phosphoserine	-	No	None detected

Summary
Symbol	NSD1
Name	nuclear receptor binding SET domain protein 1
Aliases	ARA267; FLJ22263; KMT3B; STO; Sotos syndrome; SOTOS; SOTOS1; H3-K36-HMTase; H4-K20-HMTase; NR-binding SET do ......
Location	5q35.3
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)

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Differential expression analysis for cancers with more than 10 normal samples

Cancer	Full Name	# N	# T	Median (N)	Median (T)	LogFC	Adj. P	Status
BLCA	Bladder urothelial carcinoma	19	408	6.27	6.02	-0.14	0.399	NS
BRCA	Breast invasive carcinoma	112	1100	6.926	6.913	0.01	0.866	NS
CESC	Cervical and endocervical cancers	3	306	6.33	6.683	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	6.306	6.251	-0.068	0.468	NS
ESCA	Esophageal carcinoma	11	185	6.88	7.008	0.172	0.415	NS
GBM	Glioblastoma multiforme	5	166	6.546	6.1	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	6.584	6.412	-0.191	0.108	NS
KIRC	Kidney renal clear cell carcinoma	72	534	6.765	6.513	-0.222	0.000163	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	6.536	6.066	-0.458	1.4e-05	NS
LAML	Acute Myeloid Leukemia	0	173	NA	8.032	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	6.35	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	4.543	5.111	0.635	1.27e-13	Over
LUAD	Lung adenocarcinoma	59	517	6.327	6.293	0.014	0.872	NS
LUSC	Lung squamous cell carcinoma	51	501	6.341	6.369	0.064	0.506	NS
OV	Ovarian serous cystadenocarcinoma	0	307	NA	6.883	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	6.557	6.218	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	5.72	5.64	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	6.363	6.232	-0.088	0.312	NS
READ	Rectum adenocarcinoma	10	167	6.293	6.157	-0.003	0.99	NS
SARC	Sarcoma	2	263	5.716	6.133	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	6.147	6.346	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	6.633	6.837	0.212	0.0318	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	7.398	NA	NA	NA
THCA	Thyroid carcinoma	59	509	6.905	6.486	-0.338	7.55e-09	NS
THYM	Thymoma	2	120	6.935	6.643	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	6.362	6.442	0.078	0.391	NS

> Cancer Cell Line Encyclopedia (CCLE)

[ TOP ]

Tissue	Cell Line	Expression Level (Microarray)
Autonomic ganglia	CHP126	5.6
Autonomic ganglia	CHP212	5.6
Autonomic ganglia	IMR32	6.3
Autonomic ganglia	KELLY	5.4
Autonomic ganglia	KPNRTBM1	6.2
Autonomic ganglia	KPNSI9S	4.8
Autonomic ganglia	KPNYN	5.9
Autonomic ganglia	MHHNB11	5.9
Autonomic ganglia	NB1	5.6
Autonomic ganglia	NH6	5.5
Autonomic ganglia	SHSY5Y	5.7
Autonomic ganglia	SIMA	6
Autonomic ganglia	SKNAS	5.9
Autonomic ganglia	SKNBE2	5.9
Autonomic ganglia	SKNDZ	4
Autonomic ganglia	SKNFI	5.2
Autonomic ganglia	SKNSH	5.5
Biliary tract	HUCCT1	5.7
Biliary tract	HUH28	5.7
Biliary tract	SNU1079	5.2
Biliary tract	SNU1196	5.5
Biliary tract	SNU245	5.7
Biliary tract	SNU308	6
Biliary tract	SNU478	6.1
Bone	143B	5.8
Bone	A673	5.6
Bone	CADOES1	5.6
Bone	CAL78	5.7
Bone	G292CLONEA141B1	5.7
Bone	HOS	6.2
Bone	HS706T	6
Bone	HS737T	5.6
Bone	HS819T	5.8
Bone	HS821T	5.7
Bone	HS822T	5.7
Bone	HS863T	5.8
Bone	HS870T	5.9
Bone	HS888T	5.8
Bone	MG63	6.4
Bone	MHHES1	6.1
Bone	OUMS27	5.2
Bone	RDES	5.5
Bone	SJSA1	6.1
Bone	SKES1	5.8
Bone	SKNMC	6.3
Bone	SW1353	5.3
Bone	T173	6
Bone	TC71	5.6
Bone	U2OS	6.1
Breast	AU565	6.5
Breast	BT20	6.4
Breast	BT474	6.1
Breast	BT483	6.4
Breast	BT549	5.9
Breast	CAL120	5.6
Breast	CAL148	6.3
Breast	CAL51	6
Breast	CAL851	5.3
Breast	CAMA1	6.8
Breast	DU4475	6.3
Breast	EFM192A	6.2
Breast	EFM19	5.7
Breast	EVSAT	6.4
Breast	HCC1143	6.1
Breast	HCC1187	5.6
Breast	HCC1395	5.9
Breast	HCC1419	6
Breast	HCC1428	5.7
Breast	HCC1500	5.7
Breast	HCC1569	5.4
Breast	HCC1599	5.9
Breast	HCC1806	6
Breast	HCC1937	6
Breast	HCC1954	5.9
Breast	HCC202	4.9
Breast	HCC2157	5.8
Breast	HCC2218	5.7
Breast	HCC38	5.6
Breast	HCC70	5.9
Breast	HDQP1	5.9
Breast	HMC18	5.7
Breast	HS274T	5.7
Breast	HS281T	5.7
Breast	HS343T	5.9
Breast	HS578T	5.8
Breast	HS606T	5.8
Breast	HS739T	5.6
Breast	HS742T	5.3
Breast	JIMT1	5.4
Breast	KPL1	6.2
Breast	MCF7	6.2
Breast	MDAMB134VI	6
Breast	MDAMB157	5.7
Breast	MDAMB175VII	5.6
Breast	MDAMB231	5.4
Breast	MDAMB361	5.9
Breast	MDAMB415	6.1
Breast	MDAMB436	6.5
Breast	MDAMB453	6.5
Breast	MDAMB468	6.1
Breast	SKBR3	6.2
Breast	T47D	5.7
Breast	UACC812	6.3
Breast	UACC893	5.7
Breast	YMB1	5.8
Breast	ZR751	5.2
Breast	ZR7530	5.8
Central nervous system	1321N1	5.8
Central nervous system	42MGBA	5.6
Central nervous system	8MGBA	5.5
Central nervous system	A172	5.8
Central nervous system	AM38	5.4
Central nervous system	BECKER	5.5
Central nervous system	CAS1	5.5
Central nervous system	CCFSTTG1	5.9
Central nervous system	D283MED	6.3
Central nervous system	D341MED	5.6
Central nervous system	DAOY	5.8
Central nervous system	DBTRG05MG	5.4
Central nervous system	DKMG	5.6
Central nervous system	GAMG	5.7
Central nervous system	GB1	5.7
Central nervous system	GI1	5.8
Central nervous system	GMS10	5.8
Central nervous system	GOS3	5.5
Central nervous system	H4	6.1
Central nervous system	HS683	5.6
Central nervous system	KALS1	5.5
Central nervous system	KG1C	5.8
Central nervous system	KNS42	5.3
Central nervous system	KNS60	4.9
Central nervous system	KNS81	5.1
Central nervous system	KS1	4.4
Central nervous system	LN18	5.6
Central nervous system	LN229	5.5
Central nervous system	M059K	6.2
Central nervous system	MOGGCCM	5.6
Central nervous system	MOGGUVW	5.6
Central nervous system	NMCG1	5.3
Central nervous system	ONS76	5.4
Central nervous system	SF126	5.1
Central nervous system	SF295	5.8
Central nervous system	SNB19	5.6
Central nervous system	SNU1105	5.8
Central nervous system	SNU201	6
Central nervous system	SNU466	6
Central nervous system	SNU489	6.3
Central nervous system	SNU626	5.7
Central nervous system	SNU738	5.9
Central nervous system	SW1088	6.1
Central nervous system	SW1783	5.5
Central nervous system	T98G	6
Central nervous system	TM31	5.3
Central nervous system	U118MG	5.5
Central nervous system	U138MG	5.6
Central nervous system	U251MG	5.6
Central nervous system	U87MG	5.4
Central nervous system	YH13	5.7
Central nervous system	YKG1	5.2
Endometrium	AN3CA	6.6
Endometrium	COLO684	5.5
Endometrium	EFE184	6
Endometrium	EN	6.1
Endometrium	ESS1	5.8
Endometrium	HEC108	6.4
Endometrium	HEC151	5.4
Endometrium	HEC1A	6.7
Endometrium	HEC1B	6.2
Endometrium	HEC251	4.8
Endometrium	HEC265	5.4
Endometrium	HEC50B	5.4
Endometrium	HEC59	5.2
Endometrium	HEC6	6.3
Endometrium	ISHIKAWAHERAKLIO02ER	6.1
Endometrium	JHUEM1	5.9
Endometrium	JHUEM2	6.6
Endometrium	JHUEM3	5.6
Endometrium	KLE	5.7
Endometrium	MFE280	6
Endometrium	MFE296	6.8
Endometrium	MFE319	6.1
Endometrium	RL952	6.6
Endometrium	SNGM	7.1
Endometrium	SNU1077	5
Endometrium	SNU685	5.7
Endometrium	TEN	4.6
Haematopoietic and lymphoid	697	6.2
Haematopoietic and lymphoid	A3KAW	5.6
Haematopoietic and lymphoid	A4FUK	6.1
Haematopoietic and lymphoid	ALLSIL	5.9
Haematopoietic and lymphoid	AML193	5.9
Haematopoietic and lymphoid	AMO1	5.7
Haematopoietic and lymphoid	BCP1	6.1
Haematopoietic and lymphoid	BDCM	5.6
Haematopoietic and lymphoid	BL41	6.2
Haematopoietic and lymphoid	BL70	6.3
Haematopoietic and lymphoid	BV173	6
Haematopoietic and lymphoid	CA46	6.3
Haematopoietic and lymphoid	CI1	6.1
Haematopoietic and lymphoid	CMK115	5.3
Haematopoietic and lymphoid	CMK86	6.1
Haematopoietic and lymphoid	CMK	5.5
Haematopoietic and lymphoid	CMLT1	6.2
Haematopoietic and lymphoid	COLO775	6
Haematopoietic and lymphoid	DAUDI	6.2
Haematopoietic and lymphoid	DB	6.2
Haematopoietic and lymphoid	DEL	6.9
Haematopoietic and lymphoid	DND41	6.2
Haematopoietic and lymphoid	DOHH2	6.2
Haematopoietic and lymphoid	EB1	6.2
Haematopoietic and lymphoid	EB2	5.9
Haematopoietic and lymphoid	EHEB	5.7
Haematopoietic and lymphoid	EJM	6.1
Haematopoietic and lymphoid	EM2	5.6
Haematopoietic and lymphoid	EOL1	5.9
Haematopoietic and lymphoid	F36P	4.3
Haematopoietic and lymphoid	GA10	5.9
Haematopoietic and lymphoid	GDM1	5.5
Haematopoietic and lymphoid	GRANTA519	6
Haematopoietic and lymphoid	HDLM2	7.1
Haematopoietic and lymphoid	HDMYZ	5.1
Haematopoietic and lymphoid	HEL9217	5.5
Haematopoietic and lymphoid	HEL	5.1
Haematopoietic and lymphoid	HH	5.7
Haematopoietic and lymphoid	HL60	6.8
Haematopoietic and lymphoid	HPBALL	5.3
Haematopoietic and lymphoid	HS604T	5.6
Haematopoietic and lymphoid	HS611T	5.9
Haematopoietic and lymphoid	HS616T	5.5
Haematopoietic and lymphoid	HS751T	5.6
Haematopoietic and lymphoid	HT	7
Haematopoietic and lymphoid	HTK	5.6
Haematopoietic and lymphoid	HUNS1	5.6
Haematopoietic and lymphoid	HUT102	6.2
Haematopoietic and lymphoid	HUT78	5.8
Haematopoietic and lymphoid	JEKO1	6.2
Haematopoietic and lymphoid	JK1	5.6
Haematopoietic and lymphoid	JM1	5.6
Haematopoietic and lymphoid	JURKAT	6.2
Haematopoietic and lymphoid	JURLMK1	5.6
Haematopoietic and lymphoid	JVM2	5.8
Haematopoietic and lymphoid	JVM3	5.5
Haematopoietic and lymphoid	K562	6
Haematopoietic and lymphoid	KARPAS299	5.9
Haematopoietic and lymphoid	KARPAS422	6.7
Haematopoietic and lymphoid	KARPAS620	5.5
Haematopoietic and lymphoid	KASUMI1	5.8
Haematopoietic and lymphoid	KASUMI2	5.8
Haematopoietic and lymphoid	KASUMI6	5.7
Haematopoietic and lymphoid	KCL22	4.5
Haematopoietic and lymphoid	KE37	5.8
Haematopoietic and lymphoid	KE97	5.5
Haematopoietic and lymphoid	KG1	5.7
Haematopoietic and lymphoid	KHM1B	5.5
Haematopoietic and lymphoid	KIJK	7
Haematopoietic and lymphoid	KMH2	5.3
Haematopoietic and lymphoid	KMM1	5.1
Haematopoietic and lymphoid	KMS11	5.5
Haematopoietic and lymphoid	KMS12BM	5.4
Haematopoietic and lymphoid	KMS18	5.6
Haematopoietic and lymphoid	KMS20	6
Haematopoietic and lymphoid	KMS21BM	5.5
Haematopoietic and lymphoid	KMS26	5.3
Haematopoietic and lymphoid	KMS27	5.5
Haematopoietic and lymphoid	KMS28BM	5.6
Haematopoietic and lymphoid	KMS34	5.3
Haematopoietic and lymphoid	KO52	5.8
Haematopoietic and lymphoid	KOPN8	6.3
Haematopoietic and lymphoid	KU812	5.7
Haematopoietic and lymphoid	KYO1	5.6
Haematopoietic and lymphoid	L1236	6
Haematopoietic and lymphoid	L363	6.1
Haematopoietic and lymphoid	L428	6.5
Haematopoietic and lymphoid	L540	6.5
Haematopoietic and lymphoid	LAMA84	5.5
Haematopoietic and lymphoid	LOUCY	5.4
Haematopoietic and lymphoid	LP1	5.7
Haematopoietic and lymphoid	M07E	5.3
Haematopoietic and lymphoid	MC116	6.3
Haematopoietic and lymphoid	ME1	5.7
Haematopoietic and lymphoid	MEC1	5.7
Haematopoietic and lymphoid	MEC2	6
Haematopoietic and lymphoid	MEG01	5.6
Haematopoietic and lymphoid	MHHCALL2	5.8
Haematopoietic and lymphoid	MHHCALL3	5.6
Haematopoietic and lymphoid	MHHCALL4	5.8
Haematopoietic and lymphoid	MINO	6.1
Haematopoietic and lymphoid	MJ	6
Haematopoietic and lymphoid	MM1S	5.6
Haematopoietic and lymphoid	MOLM13	5.7
Haematopoietic and lymphoid	MOLM16	5.5
Haematopoietic and lymphoid	MOLM6	5.9
Haematopoietic and lymphoid	MOLP2	5.6
Haematopoietic and lymphoid	MOLP8	5.3
Haematopoietic and lymphoid	MOLT13	6.3
Haematopoietic and lymphoid	MOLT16	6.3
Haematopoietic and lymphoid	MOLT4	6.1
Haematopoietic and lymphoid	MONOMAC1	5.9
Haematopoietic and lymphoid	MONOMAC6	6.1
Haematopoietic and lymphoid	MOTN1	6.5
Haematopoietic and lymphoid	MUTZ5	5.9
Haematopoietic and lymphoid	MV411	6.6
Haematopoietic and lymphoid	NALM19	6.3
Haematopoietic and lymphoid	NALM1	5.8
Haematopoietic and lymphoid	NALM6	6.3
Haematopoietic and lymphoid	NAMALWA	6.3
Haematopoietic and lymphoid	NB4	5.8
Haematopoietic and lymphoid	NCIH929	5.6
Haematopoietic and lymphoid	NCO2	5.6
Haematopoietic and lymphoid	NOMO1	5.9
Haematopoietic and lymphoid	NUDHL1	6.3
Haematopoietic and lymphoid	NUDUL1	6.1
Haematopoietic and lymphoid	OCIAML2	6.2
Haematopoietic and lymphoid	OCIAML3	6.3
Haematopoietic and lymphoid	OCIAML5	5.8
Haematopoietic and lymphoid	OCILY10	6.8
Haematopoietic and lymphoid	OCILY19	6.1
Haematopoietic and lymphoid	OCILY3	6
Haematopoietic and lymphoid	OCIM1	5.4
Haematopoietic and lymphoid	OPM2	5.4
Haematopoietic and lymphoid	P12ICHIKAWA	5.6
Haematopoietic and lymphoid	P31FUJ	5.8
Haematopoietic and lymphoid	P3HR1	6.1
Haematopoietic and lymphoid	PCM6	6
Haematopoietic and lymphoid	PEER	5.4
Haematopoietic and lymphoid	PF382	5.9
Haematopoietic and lymphoid	PFEIFFER	6.9
Haematopoietic and lymphoid	PL21	5.6
Haematopoietic and lymphoid	RAJI	6
Haematopoietic and lymphoid	RCHACV	5.7
Haematopoietic and lymphoid	REC1	5.6
Haematopoietic and lymphoid	REH	6.7
Haematopoietic and lymphoid	RI1	6.1
Haematopoietic and lymphoid	RL	6.3
Haematopoietic and lymphoid	RPMI8226	5.5
Haematopoietic and lymphoid	RPMI8402	6
Haematopoietic and lymphoid	RS411	6.1
Haematopoietic and lymphoid	SEM	5.7
Haematopoietic and lymphoid	SET2	5.2
Haematopoietic and lymphoid	SIGM5	6
Haematopoietic and lymphoid	SKM1	5.8
Haematopoietic and lymphoid	SKMM2	5.7
Haematopoietic and lymphoid	SR786	6.6
Haematopoietic and lymphoid	ST486	6
Haematopoietic and lymphoid	SUDHL10	6.3
Haematopoietic and lymphoid	SUDHL1	6.1
Haematopoietic and lymphoid	SUDHL4	6.3
Haematopoietic and lymphoid	SUDHL5	6.3
Haematopoietic and lymphoid	SUDHL6	6.8
Haematopoietic and lymphoid	SUDHL8	5.8
Haematopoietic and lymphoid	SUPB15	5.8
Haematopoietic and lymphoid	SUPHD1	5.7
Haematopoietic and lymphoid	SUPM2	6.5
Haematopoietic and lymphoid	SUPT11	6.3
Haematopoietic and lymphoid	SUPT1	6.1
Haematopoietic and lymphoid	TALL1	6.1
Haematopoietic and lymphoid	TF1	6.2
Haematopoietic and lymphoid	THP1	5.6
Haematopoietic and lymphoid	TO175T	5.9
Haematopoietic and lymphoid	TOLEDO	5.5
Haematopoietic and lymphoid	U266B1	5.4
Haematopoietic and lymphoid	U937	5.6
Haematopoietic and lymphoid	UT7	5.8
Haematopoietic and lymphoid	WSUDLCL2	5.9
Kidney	769P	6.2
Kidney	786O	5.3
Kidney	A498	6
Kidney	A704	5.3
Kidney	ACHN	5.4
Kidney	BFTC909	5.6
Kidney	CAKI1	5.5
Kidney	CAKI2	6.1
Kidney	CAL54	5.3
Kidney	KMRC1	5.6
Kidney	KMRC20	5.6
Kidney	KMRC2	5.9
Kidney	KMRC3	5.8
Kidney	OSRC2	5.1
Kidney	RCC10RGB	5.7
Kidney	SNU1272	6
Kidney	SNU349	4.4
Kidney	TUHR10TKB	6.2
Kidney	TUHR14TKB	6.4
Kidney	TUHR4TKB	5.9
Kidney	VMRCRCW	5.5
Kidney	VMRCRCZ	5.7
Large intestine	C2BBE1	5.2
Large intestine	CCK81	5.7
Large intestine	CL11	5.6
Large intestine	CL14	5.7
Large intestine	CL34	6.3
Large intestine	CL40	6
Large intestine	COLO205	5.7
Large intestine	COLO320	5.9
Large intestine	COLO678	6.1
Large intestine	CW2	5.8
Large intestine	DLD1	6
Large intestine	GP2D	6.7
Large intestine	HCC56	5.7
Large intestine	HCT116	6.3
Large intestine	HCT15	6.6
Large intestine	HS675T	6
Large intestine	HS698T	5.9
Large intestine	HT115	6
Large intestine	HT29	6
Large intestine	HT55	5.7
Large intestine	KM12	5.8
Large intestine	LOVO	6.2
Large intestine	LS1034	5.4
Large intestine	LS123	6.1
Large intestine	LS180	6.1
Large intestine	LS411N	6.1
Large intestine	LS513	5.8
Large intestine	MDST8	5.3
Large intestine	NCIH508	5.9
Large intestine	NCIH716	5.5
Large intestine	NCIH747	5.7
Large intestine	OUMS23	6.3
Large intestine	RCM1	5.4
Large intestine	RKO	5.6
Large intestine	SKCO1	5.9
Large intestine	SNU1040	6.3
Large intestine	SNU1197	5.8
Large intestine	SNU175	6.4
Large intestine	SNU283	5.9
Large intestine	SNU407	6.3
Large intestine	SNU503	6
Large intestine	SNU61	6
Large intestine	SNU81	6.2
Large intestine	SNUC1	5.7
Large intestine	SNUC2A	6.2
Large intestine	SNUC4	6.3
Large intestine	SNUC5	6.5
Large intestine	SW1116	5.8
Large intestine	SW1417	5.9
Large intestine	SW1463	5.7
Large intestine	SW403	5.4
Large intestine	SW480	5.9
Large intestine	SW48	6.3
Large intestine	SW620	5.9
Large intestine	SW837	6
Large intestine	SW948	5.1
Large intestine	T84	5.8
Liver	ALEXANDERCELLS	5.6
Liver	C3A	4.7
Liver	HEP3B217	5
Liver	HEPG2	4.6
Liver	HLE	5.6
Liver	HLF	5.8
Liver	HUH1	5.5
Liver	HUH6	4.4
Liver	HUH7	5.5
Liver	JHH1	4.8
Liver	JHH2	5.3
Liver	JHH4	5.4
Liver	JHH5	5.7
Liver	JHH6	5.5
Liver	JHH7	5.9
Liver	LI7	5.4
Liver	PLCPRF5	5.8
Liver	SKHEP1	5.7
Liver	SNU182	5.7
Liver	SNU387	5.9
Liver	SNU398	5.8
Liver	SNU423	5.6
Liver	SNU449	5.6
Liver	SNU475	5.7
Liver	SNU761	5.2
Liver	SNU878	5.2
Liver	SNU886	5.7
Lung	A549	5.7
Lung	ABC1	5.6
Lung	BEN	5.7
Lung	CAL12T	5.4
Lung	CALU1	5.7
Lung	CALU3	5.5
Lung	CALU6	5.6
Lung	CHAGOK1	6.4
Lung	COLO668	5.2
Lung	COLO699	5.5
Lung	CORL105	5.8
Lung	CORL23	5.6
Lung	CORL24	5.3
Lung	CORL279	5.5
Lung	CORL311	5.6
Lung	CORL47	5.9
Lung	CORL51	5.3
Lung	CORL88	5.5
Lung	CORL95	5.4
Lung	CPCN	5.4
Lung	DMS114	6.2
Lung	DMS153	5.4
Lung	DMS273	5.9
Lung	DMS454	5.9
Lung	DMS53	5.7
Lung	DMS79	4.8
Lung	DV90	6.1
Lung	EBC1	5.7
Lung	EPLC272H	5.7
Lung	HARA	6.6
Lung	HCC1171	6.1
Lung	HCC1195	5.4
Lung	HCC15	6
Lung	HCC2279	5.9
Lung	HCC2935	5.5
Lung	HCC33	5.6
Lung	HCC366	5.8
Lung	HCC4006	6.1
Lung	HCC44	5.8
Lung	HCC78	5.8
Lung	HCC827	5.4
Lung	HCC95	6.5
Lung	HLC1	6.7
Lung	HLFA	5.7
Lung	HS229T	6
Lung	HS618T	5.7
Lung	IALM	5.2
Lung	KNS62	5.2
Lung	LC1F	7.3
Lung	LC1SQSF	6.7
Lung	LCLC103H	5.8
Lung	LCLC97TM1	5.8
Lung	LK2	6
Lung	LOUNH91	6.1
Lung	LU65	5.7
Lung	LU99	6.1
Lung	LUDLU1	5.5
Lung	LXF289	5.5
Lung	MORCPR	6
Lung	NCIH1048	5.8
Lung	NCIH1092	5.9
Lung	NCIH1105	5.5
Lung	NCIH1155	5.9
Lung	NCIH1184	5.5
Lung	NCIH1299	5.7
Lung	NCIH1339	5.1
Lung	NCIH1341	5.8
Lung	NCIH1355	5.8
Lung	NCIH1373	5.6
Lung	NCIH1385	5.8
Lung	NCIH1395	5.3
Lung	NCIH1435	5.2
Lung	NCIH1436	5.2
Lung	NCIH1437	6.1
Lung	NCIH146	5.7
Lung	NCIH1563	6.1
Lung	NCIH1568	5.8
Lung	NCIH1573	5.9
Lung	NCIH1581	5.7
Lung	NCIH1618	5.6
Lung	NCIH1623	5.7
Lung	NCIH1648	4.8
Lung	NCIH1650	6
Lung	NCIH1651	5.5
Lung	NCIH1666	5.9
Lung	NCIH1693	6.3
Lung	NCIH1694	5.2
Lung	NCIH1703	6
Lung	NCIH1734	5.5
Lung	NCIH1755	5.4
Lung	NCIH1781	5.5
Lung	NCIH1792	5.8
Lung	NCIH1793	5.6
Lung	NCIH1836	5.1
Lung	NCIH1838	5.2
Lung	NCIH1869	5.5
Lung	NCIH1876	6
Lung	NCIH1915	4.9
Lung	NCIH1930	5.5
Lung	NCIH1944	5.5
Lung	NCIH1963	5.6
Lung	NCIH196	5.6
Lung	NCIH1975	5.5
Lung	NCIH2009	5.4
Lung	NCIH2023	5.4
Lung	NCIH2029	6.1
Lung	NCIH2030	5.8
Lung	NCIH2066	6
Lung	NCIH2081	5.6
Lung	NCIH2085	5.6
Lung	NCIH2087	6.1
Lung	NCIH209	6
Lung	NCIH2106	5.7
Lung	NCIH2110	5.4
Lung	NCIH211	5.6
Lung	NCIH2122	5.9
Lung	NCIH2126	5.6
Lung	NCIH2141	5.7
Lung	NCIH2170	5.6
Lung	NCIH2171	5.4
Lung	NCIH2172	5.8
Lung	NCIH2196	5.7
Lung	NCIH2227	5.6
Lung	NCIH2228	5.7
Lung	NCIH226	6
Lung	NCIH2286	6
Lung	NCIH2291	5.5
Lung	NCIH2342	5.5
Lung	NCIH2347	5.6
Lung	NCIH23	6.1
Lung	NCIH2405	5.7
Lung	NCIH2444	5.1
Lung	NCIH292	6.6
Lung	NCIH322	5.6
Lung	NCIH3255	5.6
Lung	NCIH358	5.5
Lung	NCIH441	5.6
Lung	NCIH446	5.2
Lung	NCIH460	5.8
Lung	NCIH510	5.7
Lung	NCIH520	6.8
Lung	NCIH522	6
Lung	NCIH524	5.6
Lung	NCIH526	5.6
Lung	NCIH596	5.9
Lung	NCIH647	5.6
Lung	NCIH650	5.9
Lung	NCIH661	5.8
Lung	NCIH69	5.7
Lung	NCIH727	5.5
Lung	NCIH810	5.9
Lung	NCIH82	5.4
Lung	NCIH838	5.6
Lung	NCIH841	5.8
Lung	NCIH854	5.2
Lung	NCIH889	5.5
Lung	PC14	5.7
Lung	RERFLCAD1	5.8
Lung	RERFLCAD2	6.1
Lung	RERFLCAI	5.7
Lung	RERFLCKJ	5.6
Lung	RERFLCMS	6
Lung	RERFLCSQ1	5.6
Lung	SBC5	5.6
Lung	SCLC21H	5.8
Lung	SHP77	4.6
Lung	SKLU1	6.3
Lung	SKMES1	5.5
Lung	SQ1	6.2
Lung	SW1271	6.4
Lung	SW1573	6.9
Lung	SW900	6.2
Lung	VMRCLCD	6.8
Lung	VMRCLCP	5.4
Oesophagus	COLO680N	6.1
Oesophagus	ECGI10	6.3
Oesophagus	KYSE140	5.8
Oesophagus	KYSE150	6.1
Oesophagus	KYSE180	6.5
Oesophagus	KYSE270	6.1
Oesophagus	KYSE30	6.4
Oesophagus	KYSE410	5.9
Oesophagus	KYSE450	6.1
Oesophagus	KYSE510	5.7
Oesophagus	KYSE520	5.8
Oesophagus	KYSE70	6
Oesophagus	OE19	5.8
Oesophagus	OE33	5.5
Oesophagus	TE10	6.3
Oesophagus	TE11	5.8
Oesophagus	TE14	5.9
Oesophagus	TE15	4.8
Oesophagus	TE1	5.1
Oesophagus	TE4	6
Oesophagus	TE5	6.4
Oesophagus	TE6	6.1
Oesophagus	TE8	6.1
Oesophagus	TE9	5.9
Oesophagus	TT	6.2
Ovary	59M	6.2
Ovary	A2780	6
Ovary	CAOV3	5.9
Ovary	CAOV4	5.2
Ovary	COLO704	5.7
Ovary	COV318	5.8
Ovary	COV362	5.8
Ovary	COV434	6.1
Ovary	COV504	5.6
Ovary	COV644	5.7
Ovary	EFO21	6.6
Ovary	EFO27	6.1
Ovary	ES2	5.5
Ovary	FUOV1	6.9
Ovary	HEYA8	5.6
Ovary	HS571T	5.5
Ovary	IGROV1	6.2
Ovary	JHOC5	5.7
Ovary	JHOM1	4.8
Ovary	JHOM2B	5.6
Ovary	JHOS2	5.7
Ovary	JHOS4	6.6
Ovary	KURAMOCHI	6.1
Ovary	MCAS	5.8
Ovary	NIHOVCAR3	5.9
Ovary	OAW28	5.8
Ovary	OAW42	6.3
Ovary	OC314	5.9
Ovary	OC316	5.9
Ovary	ONCODG1	5.8
Ovary	OV56	5.8
Ovary	OV7	5.5
Ovary	OV90	5.7
Ovary	OVCAR4	6.2
Ovary	OVCAR8	6.5
Ovary	OVISE	5.9
Ovary	OVK18	6.4
Ovary	OVKATE	5.8
Ovary	OVMANA	5
Ovary	OVSAHO	6
Ovary	OVTOKO	5.2
Ovary	RMGI	5.7
Ovary	RMUGS	5.7
Ovary	SKOV3	6.1
Ovary	SNU119	7
Ovary	SNU840	5.8
Ovary	SNU8	5.7
Ovary	TOV112D	5.8
Ovary	TOV21G	5.6
Ovary	TYKNU	5.3
Pancreas	ASPC1	5.8
Pancreas	BXPC3	5.4
Pancreas	CAPAN1	6.1
Pancreas	CAPAN2	6.1
Pancreas	CFPAC1	5.7
Pancreas	DANG	6
Pancreas	HPAC	5.6
Pancreas	HPAFII	5.5
Pancreas	HS766T	5.5
Pancreas	HUPT3	5.9
Pancreas	HUPT4	5.4
Pancreas	KCIMOH1	5.4
Pancreas	KLM1	6.2
Pancreas	KP2	5.9
Pancreas	KP3	5.4
Pancreas	KP4	5.9
Pancreas	L33	6.7
Pancreas	MIAPACA2	6.8
Pancreas	PANC0203	5.6
Pancreas	PANC0213	5.7
Pancreas	PANC0327	6.4
Pancreas	PANC0403	5.1
Pancreas	PANC0504	5.7
Pancreas	PANC0813	5.4
Pancreas	PANC1005	5.7
Pancreas	PANC1	5.8
Pancreas	PATU8902	5.8
Pancreas	PATU8988S	5.8
Pancreas	PATU8988T	6.2
Pancreas	PK1	5.9
Pancreas	PK45H	5.4
Pancreas	PK59	5.5
Pancreas	PL45	5.7
Pancreas	PSN1	6
Pancreas	QGP1	6
Pancreas	SNU213	5.6
Pancreas	SNU324	6
Pancreas	SNU410	6.1
Pancreas	SU8686	5.7
Pancreas	SUIT2	6.2
Pancreas	SW1990	5.8
Pancreas	T3M4	5.5
Pancreas	TCCPAN2	5.5
Pancreas	YAPC	6
Pleura	ACCMESO1	5.4
Pleura	DM3	5.5
Pleura	ISTMES1	6.4
Pleura	ISTMES2	5.9
Pleura	JL1	6
Pleura	MPP89	5.2
Pleura	MSTO211H	5.7
Pleura	NCIH2052	5.7
Pleura	NCIH2452	6.2
Pleura	NCIH28	6
Prostate	22RV1	5.9
Prostate	DU145	5.5
Prostate	LNCAPCLONEFGC	6.1
Prostate	MDAPCA2B	6.2
Prostate	NCIH660	5.6
Prostate	PC3	5.6
Prostate	VCAP	6.1
Salivary gland	A253	6.5
Salivary gland	YD15	5.9
Skin	A101D	5.3
Skin	A2058	5.9
Skin	A375	6.3
Skin	C32	5.6
Skin	CHL1	5.1
Skin	CJM	6.3
Skin	COLO679	5.4
Skin	COLO741	5.9
Skin	COLO783	5.5
Skin	COLO792	5.6
Skin	COLO800	6
Skin	COLO818	5.4
Skin	COLO829	5.6
Skin	COLO849	5.8
Skin	G361	5.5
Skin	GRM	6.7
Skin	HMCB	4.6
Skin	HS294T	5.6
Skin	HS600T	5.6
Skin	HS688AT	5.9
Skin	HS695T	5.8
Skin	HS839T	5.6
Skin	HS852T	6
Skin	HS895T	5.3
Skin	HS934T	5.7
Skin	HS936T	5.2
Skin	HS939T	5.6
Skin	HS940T	5.7
Skin	HS944T	5.8
Skin	HT144	5.6
Skin	IGR1	5.6
Skin	IGR37	5.4
Skin	IGR39	5.9
Skin	IPC298	5.4
Skin	K029AX	5.6
Skin	LOXIMVI	5.7
Skin	MALME3M	5
Skin	MDAMB435S	5.4
Skin	MELHO	5.8
Skin	MELJUSO	6.4
Skin	MEWO	6
Skin	RPMI7951	5.7
Skin	RVH421	5.7
Skin	SH4	5.7
Skin	SKMEL1	5.6
Skin	SKMEL24	5.7
Skin	SKMEL28	5.8
Skin	SKMEL2	5.7
Skin	SKMEL30	5.4
Skin	SKMEL31	5.7
Skin	SKMEL3	6.6
Skin	SKMEL5	5.5
Skin	UACC257	5.4
Skin	UACC62	5.7
Skin	WM115	6
Skin	WM1799	5.5
Skin	WM2664	5.1
Skin	WM793	6
Skin	WM88	5.8
Skin	WM983B	5.6
Small intestine	HUTU80	6.4
Soft tissue	A204	5.8
Soft tissue	G401	6.4
Soft tissue	G402	6.1
Soft tissue	GCT	6
Soft tissue	HS729	5.8
Soft tissue	HT1080	5.6
Soft tissue	KYM1	6.2
Soft tissue	MESSA	6.3
Soft tissue	RD	4.7
Soft tissue	RH30	4.5
Soft tissue	RH41	6.5
Soft tissue	RKN	6
Soft tissue	S117	5.6
Soft tissue	SJRH30	4.8
Soft tissue	SKLMS1	5.4
Soft tissue	SKUT1	6.1
Soft tissue	TE125T	5.3
Soft tissue	TE159T	5.5
Soft tissue	TE441T	6.7
Soft tissue	TE617T	6.3
Stomach	2313287	6.5
Stomach	AGS	6.4
Stomach	AZ521	6.5
Stomach	ECC10	5.5
Stomach	ECC12	6.3
Stomach	FU97	5.1
Stomach	GCIY	5.8
Stomach	GSS	6.9
Stomach	GSU	5.6
Stomach	HGC27	5.5
Stomach	HS746T	5.8
Stomach	HUG1N	6
Stomach	IM95	5.5
Stomach	KATOIII	5.5
Stomach	KE39	5.6
Stomach	LMSU	5.7
Stomach	MKN1	5.8
Stomach	MKN45	5.9
Stomach	MKN74	6.1
Stomach	MKN7	5.6
Stomach	NCCSTCK140	5.4
Stomach	NCIN87	6
Stomach	NUGC2	5.6
Stomach	NUGC3	5.6
Stomach	NUGC4	5.7
Stomach	OCUM1	5.5
Stomach	RERFGC1B	5.8
Stomach	SH10TC	5.8
Stomach	SNU16	5.7
Stomach	SNU1	6.7
Stomach	SNU216	6
Stomach	SNU520	5.2
Stomach	SNU5	6.2
Stomach	SNU601	6
Stomach	SNU620	5.5
Stomach	SNU668	5.8
Stomach	SNU719	6.2
Stomach	TGBC11TKB	6.4
Thyroid	8305C	5.6
Thyroid	8505C	6
Thyroid	BCPAP	6
Thyroid	BHT101	5.5
Thyroid	CAL62	5.8
Thyroid	CGTHW1	5.8
Thyroid	FTC133	5.6
Thyroid	FTC238	5
Thyroid	ML1	5.3
Thyroid	SW579	5.7
Thyroid	TT2609C02	5.5
Thyroid	TT	5.9
Upper aerodigestive tract	BHY	5.3
Upper aerodigestive tract	BICR16	5.7
Upper aerodigestive tract	BICR18	6.1
Upper aerodigestive tract	BICR22	5.5
Upper aerodigestive tract	BICR31	5.9
Upper aerodigestive tract	BICR56	5.7
Upper aerodigestive tract	BICR6	6.2
Upper aerodigestive tract	CAL27	6
Upper aerodigestive tract	CAL33	6.5
Upper aerodigestive tract	DETROIT562	5.9
Upper aerodigestive tract	FADU	6.3
Upper aerodigestive tract	HS840T	5.7
Upper aerodigestive tract	HSC2	5.7
Upper aerodigestive tract	HSC3	5.6
Upper aerodigestive tract	HSC4	5.9
Upper aerodigestive tract	PECAPJ15	5.6
Upper aerodigestive tract	PECAPJ34CLONEC12	6.2
Upper aerodigestive tract	PECAPJ41CLONED2	5.8
Upper aerodigestive tract	PECAPJ49	5.5
Upper aerodigestive tract	SCC15	5.9
Upper aerodigestive tract	SCC25	5.6
Upper aerodigestive tract	SCC4	5.4
Upper aerodigestive tract	SCC9	5.6
Upper aerodigestive tract	SNU1076	5.9
Upper aerodigestive tract	SNU1214	5.9
Upper aerodigestive tract	SNU46	5.6
Upper aerodigestive tract	SNU899	5.6
Upper aerodigestive tract	YD10B	6.2
Upper aerodigestive tract	YD38	6
Upper aerodigestive tract	YD8	6.2
Urinary tract	5637	5.8
Urinary tract	639V	6.4
Urinary tract	647V	5.6
Urinary tract	BC3C	5.7
Urinary tract	BFTC905	6
Urinary tract	CAL29	5.8
Urinary tract	HS172T	5.3
Urinary tract	HT1197	6.1
Urinary tract	HT1376	5.9
Urinary tract	J82	6.1
Urinary tract	JMSU1	6.3
Urinary tract	KMBC2	6
Urinary tract	KU1919	6.2
Urinary tract	RT11284	5.9
Urinary tract	RT112	6
Urinary tract	RT4	5.8
Urinary tract	SCABER	6
Urinary tract	SW1710	5.9
Urinary tract	SW780	6.2
Urinary tract	T24	5.9
Urinary tract	TCCSUP	6.3
Urinary tract	UMUC1	5.7
Urinary tract	UMUC3	5.5
Urinary tract	VMCUB1	5.5

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Expression Level (TPM)
Adipose tissue	10.2
Adrenal gland	9.7
Appendix	17.1
Bone marrow	14.1
Breast	13.3
Cerebral cortex	13.4
Cervix, uterine	17.1
Colon	10.5
Duodenum	9
Endometrium	20.1
Epididymis	12.4
Esophagus	14.1
Fallopian tube	16.6
Gallbladder	13.4
Heart muscle	6.1
Kidney	12
Liver	3.5
Lung	14
Lymph node	17.1
Ovary	15.5
Pancreas	2.4
Parathyroid gland	28.6
Placenta	15.8
Prostate	14.6
Rectum	12.1
Salivary gland	4.5
Seminal vesicle	13.5
Skeletal muscle	4.8
Skin	14.5
Small intestine	11
Smooth muscle	17.5
Spleen	16.2
Stomach	8.7
Testis	43.2
Thyroid gland	27.2
Tonsil	14.1
Urinary bladder	13.3

> Text Mining based Expression

[ TOP ]

PMID	Expression	Cancer	Evidence
24716914	overexpression	Gastric Carcinoma	The genes CD248, NSD1, RAB17, ABCG8, Ephb1 and P2RY2 were detected as the top overexpressed in GC biopsies.

Summary
Symbol	NSD1
Name	nuclear receptor binding SET domain protein 1
Aliases	ARA267; FLJ22263; KMT3B; STO; Sotos syndrome; SOTOS; SOTOS1; H3-K36-HMTase; H4-K20-HMTase; NR-binding SET do ......
Location	5q35.3
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)

[ TOP ]

Correlation between expression and SCNA as well as percentage of patients in different status.

Cancer	Full Name	# Sample	R	P	% Loss	% Neutral	% Gain	Status
BLCA	Bladder urothelial carcinoma	404	0.484	4.14e-25	49.3	44.3	6.4	Loss
BRCA	Breast invasive carcinoma	1075	0.396	1.13e-41	18	55.3	26.6	Neutral
CESC	Cervical and endocervical cancers	292	0.516	2.61e-21	24	65.8	10.3	Neutral
COAD	Colon adenocarcinoma	449	0.31	1.81e-11	19.8	70.6	9.6	Neutral
ESCA	Esophageal carcinoma	183	0.488	2.52e-12	43.2	43.2	13.7	Loss
GBM	Glioblastoma multiforme	147	0.153	0.0645	12.9	77.6	9.5	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.468	2.2e-29	38.3	54.3	7.4	Loss
KIRC	Kidney renal clear cell carcinoma	525	0.325	2.25e-14	1.1	36	62.9	Gain
KIRP	Kidney renal papillary cell carcinoma	288	0.333	7.02e-09	3.8	83.3	12.8	Neutral
LAML	Acute Myeloid Leukemia	166	0.213	0.00593	2.4	97.6	0	Neutral
LGG	Brain Lower Grade Glioma	513	0.291	1.7e-11	11.1	87.1	1.8	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.24	3.63e-06	10.2	53.6	36.3	Gain
LUAD	Lung adenocarcinoma	512	0.309	9.38e-13	32	44.9	23	Neutral
LUSC	Lung squamous cell carcinoma	498	0.386	3.75e-19	70.1	23.1	6.8	Loss
OV	Ovarian serous cystadenocarcinoma	300	0.484	5.43e-19	35.7	41	23.3	Loss
PAAD	Pancreatic adenocarcinoma	177	0.395	5.18e-08	10.2	76.8	13	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.067	0.398	5.6	89.5	4.9	Neutral
PRAD	Prostate adenocarcinoma	491	0.196	1.26e-05	3.3	91.6	5.1	Neutral
READ	Rectum adenocarcinoma	164	0.342	7.21e-06	26.2	58.5	15.2	Neutral
SARC	Sarcoma	255	0.422	2.09e-12	17.6	59.2	23.1	Neutral
SKCM	Skin Cutaneous Melanoma	367	0.512	5.76e-26	30	55	15	Neutral
STAD	Stomach adenocarcinoma	413	0.381	1.01e-15	28.8	63.2	8	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.158	0.0534	64.7	33.3	2	Loss
THCA	Thyroid carcinoma	497	0.075	0.0942	0	96.2	3.8	Neutral
THYM	Thymoma	119	0.17	0.0639	1.7	90.8	7.6	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.324	1.46e-14	12.8	76.9	10.2	Neutral

Summary
Symbol	NSD1
Name	nuclear receptor binding SET domain protein 1
Aliases	ARA267; FLJ22263; KMT3B; STO; Sotos syndrome; SOTOS; SOTOS1; H3-K36-HMTase; H4-K20-HMTase; NR-binding SET do ......
Location	5q35.3
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

[ TOP ]

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
BLCA	Bladder urothelial carcinoma	-0.149	0.00206	17	408	0.214	1.15e-09	Increased
BRCA	Breast invasive carcinoma	-0.164	1.17e-06	83	785	0.002	0.247	NS/NA
CESC	Cervical and endocervical cancers	-0.304	6.12e-08	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.059	0.297	19	297	-0.003	0.303	NS/NA
ESCA	Esophageal carcinoma	-0.063	0.379	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.141	0.261	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.001	0.98	20	522	0.006	1.34e-10	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.154	0.00425	24	319	0.275	2.12e-13	Increased
KIRP	Kidney renal papillary cell carcinoma	-0.187	0.00117	23	275	0.112	6.53e-26	NS/NA
LAML	Acute Myeloid Leukemia	-0.339	6.97e-06	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.258	1.95e-09	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.062	0.208	41	373	-0.009	0.0457	NS/NA
LUAD	Lung adenocarcinoma	-0.112	0.0146	21	456	0.028	2.28e-17	NS/NA
LUSC	Lung squamous cell carcinoma	-0.117	0.0225	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.433	0.25	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.126	0.0888	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.465	2.46e-11	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.096	0.0275	35	498	-0.001	0.0179	NS/NA
READ	Rectum adenocarcinoma	-0.019	0.848	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.164	0.00791	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.077	0.0952	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.152	0.00342	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.661	0	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.209	6.85e-07	50	509	0.127	3.59e-13	NS/NA
THYM	Thymoma	-0.085	0.351	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.173	0.000175	34	431	0.035	3.1e-35	NS/NA

Summary
Symbol	NSD1
Name	nuclear receptor binding SET domain protein 1
Aliases	ARA267; FLJ22263; KMT3B; STO; Sotos syndrome; SOTOS; SOTOS1; H3-K36-HMTase; H4-K20-HMTase; NR-binding SET do ......
Location	5q35.3
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) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA) [ TOP ]
There is no antibody staining data.

Summary
Symbol	NSD1
Name	nuclear receptor binding SET domain protein 1
Aliases	ARA267; FLJ22263; KMT3B; STO; Sotos syndrome; SOTOS; SOTOS1; H3-K36-HMTase; H4-K20-HMTase; NR-binding SET do ......
Location	5q35.3
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

[ TOP ]

Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.262	NS	24476821
BRCA	Breast invasive carcinoma	521	4.44e-06	Significant	23000897
COAD	Colon adenocarcinoma	149	0.187	NS	22810696
GBM	Glioblastoma multiforme	157	0.0016	Significant	26824661
HNSC	Head and Neck squamous cell carcinoma	279	0.000784	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.0635	NS	26536169
LGG	Brain Lower Grade Glioma	513	6.24e-09	Significant	26824661
LUAD	Lung adenocarcinoma	230	0.0706	NS	25079552
LUSC	Lung squamous cell carcinoma	178	0.138	NS	22960745
OV	Ovarian serous cystadenocarcinoma	287	0.000756	Significant	21720365
PRAD	Prostate adenocarcinoma	333	0.00102	Significant	26544944
READ	Rectum adenocarcinoma	67	0.191	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.000741	Significant	26091043
STAD	Stomach adenocarcinoma	277	0.023	Significant	25079317
THCA	Thyroid carcinoma	391	0.000386	Significant	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.0264	Significant	23636398

> Overall survival

[ TOP ]

Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	1.254	0.264	NS
BRCA	Breast invasive carcinoma	1079	1.394	0.149	NS
CESC	Cervical and endocervical cancers	291	1.557	0.235	NS
COAD	Colon adenocarcinoma	439	0.767	0.401	NS
ESCA	Esophageal carcinoma	184	1.067	0.844	NS
GBM	Glioblastoma multiforme	158	1.2	0.499	NS
HNSC	Head and Neck squamous cell carcinoma	518	1.007	0.972	NS
KIRC	Kidney renal clear cell carcinoma	531	0.466	0.0016	Longer
KIRP	Kidney renal papillary cell carcinoma	287	0.576	0.201	NS
LAML	Acute Myeloid Leukemia	149	0.771	0.357	NS
LGG	Brain Lower Grade Glioma	511	1.516	0.12	NS
LIHC	Liver hepatocellular carcinoma	365	1.391	0.179	NS
LUAD	Lung adenocarcinoma	502	1.12	0.587	NS
LUSC	Lung squamous cell carcinoma	494	1.028	0.888	NS
OV	Ovarian serous cystadenocarcinoma	303	1.088	0.689	NS
PAAD	Pancreatic adenocarcinoma	177	0.918	0.766	NS
PCPG	Pheochromocytoma and Paraganglioma	179	5.011	0.109	NS
PRAD	Prostate adenocarcinoma	497	0.781	0.792	NS
READ	Rectum adenocarcinoma	159	0.172	0.0124	Longer
SARC	Sarcoma	259	0.869	0.604	NS
SKCM	Skin Cutaneous Melanoma	459	1.11	0.565	NS
STAD	Stomach adenocarcinoma	388	0.605	0.0278	Longer
TGCT	Testicular Germ Cell Tumors	134	0	0.335	NS
THCA	Thyroid carcinoma	500	0.935	0.924	NS
THYM	Thymoma	119	0.229	0.15	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	1.542	0.122	NS

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.065	0.19	NS
BRCA	Breast invasive carcinoma	1071	-0.012	0.686	NS
CESC	Cervical and endocervical cancers	167	0.084	0.279	NS
COAD	Colon adenocarcinoma	445	-0.079	0.0976	NS
ESCA	Esophageal carcinoma	162	-0.022	0.781	NS
HNSC	Head and Neck squamous cell carcinoma	448	-0.063	0.186	NS
KIRC	Kidney renal clear cell carcinoma	531	-0.086	0.0482	Lower
KIRP	Kidney renal papillary cell carcinoma	260	-0.074	0.235	NS
LIHC	Liver hepatocellular carcinoma	347	0.075	0.161	NS
LUAD	Lung adenocarcinoma	507	0.026	0.557	NS
LUSC	Lung squamous cell carcinoma	497	0.057	0.205	NS
OV	Ovarian serous cystadenocarcinoma	302	0.02	0.734	NS
PAAD	Pancreatic adenocarcinoma	176	-0.107	0.157	NS
READ	Rectum adenocarcinoma	156	-0.01	0.906	NS
SKCM	Skin Cutaneous Melanoma	410	-0.087	0.079	NS
STAD	Stomach adenocarcinoma	392	0.053	0.297	NS
TGCT	Testicular Germ Cell Tumors	81	0.007	0.953	NS
THCA	Thyroid carcinoma	499	-0.083	0.0654	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	0.118	0.00823	Higher

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	-0.174	0.00405	Lower
HNSC	Head and Neck squamous cell carcinoma	498	0.032	0.47	NS
KIRC	Kidney renal clear cell carcinoma	525	-0.044	0.319	NS
LGG	Brain Lower Grade Glioma	514	0.058	0.187	NS
LIHC	Liver hepatocellular carcinoma	366	0.091	0.0812	NS
OV	Ovarian serous cystadenocarcinoma	296	0.045	0.443	NS
PAAD	Pancreatic adenocarcinoma	176	-0.036	0.633	NS
STAD	Stomach adenocarcinoma	406	0.013	0.791	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	0.21	9.3e-07	Higher

Summary
Symbol	NSD1
Name	nuclear receptor binding SET domain protein 1
Aliases	ARA267; FLJ22263; KMT3B; STO; Sotos syndrome; SOTOS; SOTOS1; H3-K36-HMTase; H4-K20-HMTase; NR-binding SET do ......
Location	5q35.3
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 [ TOP ]

> Targets identified by ChIP-seq data [ TOP ]

Summary
Symbol	NSD1
Name	nuclear receptor binding SET domain protein 1
Aliases	ARA267; FLJ22263; KMT3B; STO; Sotos syndrome; SOTOS; SOTOS1; H3-K36-HMTase; H4-K20-HMTase; NR-binding SET do ......
Location	5q35.3
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 [ TOP ]
There is no record for NSD1.

Summary
Symbol	NSD1
Name	nuclear receptor binding SET domain protein 1
Aliases	ARA267; FLJ22263; KMT3B; STO; Sotos syndrome; SOTOS; SOTOS1; H3-K36-HMTase; H4-K20-HMTase; NR-binding SET do ......
Location	5q35.3
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 [ TOP ]

> miRNA Regulatory Relationship [ TOP ]

> Interactions from Text Mining

[ TOP ]

PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
17589499	Acute Myeloid Leukemia	downstream	HoxA7; HoxA9; HoxA10; Meis1	positive regulation	We demonstrate that NUP98-NSD1 induces AML in vivo, sustains self-renewal of myeloid stem cells in vitro, and enforces expression of the HoxA7, HoxA9, HoxA10 and Meis1 proto-oncogenes.
26071460	Acute Myeloid Leukemia with Myelodysplasia-Related Changes	partner	NUP98	Fusion	Session 3 of the workshop cases displayed heterogeneity as expected within AML-MRC, yet several cases suggested that recently recognized entities may exist within this category, such as familial MDS/AML predisposition syndromes and rare cases of high-risk AML associated with the cryptic t(5;11)(q35;p15);NUP98-NSD1 that may masquerade as a del(5q).
24951466	Childhood Acute Myeloid Leukemia	partner	NUP98; FLT3-ITD	Fusion; positive correlation	The NUP98-NSD1 fusion, product of the t(5;11)(q35;p15.5) chromosomal translocation, is one of the most prevalent genetic alterations in cytogenetically normal pediatric acute myeloid leukemias and is associated with poor prognosis. Co-existence of an FLT3-ITD activating mutation has been found in more than 70% of NUP98-NSD1-positive patients.
24927133	Acute Myeloid Leukemia	partner	NUP98	Fusion	The NUP98-NSD1 fusion protein occurs in a highly aggressive subtype of acute myeloid leukemia after rearrangement of the genes NUP98 and NSD1.
23999921	Childhood Acute Myeloid Leukemia	partner	NUP98	Fusion	The cytogenetically cryptic t(5;11)(q35;p15) leading to the NUP98-NSD1 fusion is a rare but recurrent gene rearrangement recently reported to identify a group of young AML patients with poor prognosis.
23630019	Childhood Acute Myeloid Leukemia	partner	NUP98	Fusion	NUP98-NSD1 fusion transcripts were detected in 6 (4.8%) of 124 pediatric AML patients.
23531517	Acute Myeloid Leukemia	partner	NUP98; HOXA/B	Fusion; positive correlation	Recently, NUP98/NSD1 (t(5; 11)(q35; p15)), a cytogenetically cryptic fusion, was described as recurrent event in AML, characterized by dismal prognosis and HOXA/B gene overexpression.
21813447	Acute Myeloid Leukemia	partner	NUP98	Fusion	Twenty-three cases harbored the NUP98/NSD1 fusion, representing 16.1% of pediatric and 2.3% of adult CN-AML patients.
15951287	Acute Myeloid Leukemia	partner	NUP98	Fusion	Among the 59 AML patients, one NUP98-NSD1 positive case (1.7%) was detected. Two cases showed an inv(11)(p15q22)/NUP98-DDX10 fusion, one each displayed a t(5;11)(q35;p15)/NUP98-NSD1 and a t(11;20)(p15;q12)/NUP98-TOP1 fusion, and one case with a putative new fusion partner gene at 3p24 was identified.
12353270	Childhood Acute Myeloid Leukemia	partner	NUP98	Fusion	The cryptic translocation t(5;11)(q35;p15.5), which creates a NSD1-NUP98 fusion gene, has been associated with a deletion of the long arm of chromosome 5, del(5q), in pediatric acute myeloid leukemia (AML) patients with differentiated phenotype.
11493482	Childhood Acute Myeloid Leukemia	partner	NUP98	Fusion	By using 3'--rapid amplification of complementary DNA ends (3'-RACE) polymerase chain reaction, we identified a chimeric messenger RNA that results in the in-frame fusion of NUP98 to a novel gene, NSD1.