| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 64324 |
Name | NSD1 |
Synonymous | ARA267|KMT3B|SOTOS|STO;nuclear receptor binding SET domain protein 1;NSD1;nuclear receptor binding SET domain protein 1 |
Definition | H3-K36-HMTase|H4-K20-HMTase|NR-binding SET domain-containing protein|androgen receptor coactivator 267 kDa protein|androgen receptor-associated coregulator 267|androgen receptor-associated protein of 267 kDa|histone-lysine N-methyltransferase, H3 lysine-3 |
Position | 5q35 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for NSD1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
NSD1_R2219H; chr5; 176721025 |
SUB; MISSENSE; G; G/A; SOMATIC | AMLM7; VALID; EXOME |
NSD1_E23_UTR_3; chr5; 176726634 |
SUB; UTR_3; C; C/T; SOMATIC | HYPO; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.6085A>G; p.T2029A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.6085A>G; p.T2029A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.4289G>C; p.G1430A; |
salivary_gland; parotid | carcinoma; adenoid_cystic_carcinoma |
c.2465C>T; p.S822F; |
liver | carcinoma; hepatocellular_carcinoma |
c.5628C>T; p.N1876N; |
NS | malignant_melanoma |
c.5628C>T; p.N1876N; |
NS | malignant_melanoma |
c.3512G>A; p.R1171H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5785G>T; p.G1929W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4760G>A; p.R1587H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7897C>T; p.R2633W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4707G>T; p.E1569D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6199A>G; p.K2067E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1025G>A; p.C342Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3742G>A; p.E1248K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6653T>C; p.I2218T; |
endometrium | carcinoma; serous_carcinoma |
c.7224C>T; p.D2408D; |
liver | carcinoma |
c.6085A>G; p.T2029A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.5356_5360delAAGAT; p.K1786fs*3; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2170G>A; p.E724K; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2203G>A; p.A735T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.255G>A; p.E85E; |
oesophagus | carcinoma; adenocarcinoma |
c.1446T>C; p.D482D; |
oesophagus | carcinoma; adenocarcinoma |
c.2850A>G; p.V950V; |
oesophagus | carcinoma; adenocarcinoma |
c.4966+2T>C; p.?; |
oesophagus | carcinoma; adenocarcinoma |
c.6118G>A; p.V2040I; |
oesophagus | carcinoma; adenocarcinoma |
c.339C>T; p.C113C; |
stomach | carcinoma; adenocarcinoma |
c.1954A>G; p.I652V; |
lung | carcinoma; non_small_cell_carcinoma |
c.3331G>T; p.D1111Y; |
lung | carcinoma; non_small_cell_carcinoma |
c.3920A>C; p.K1307T; |
liver | carcinoma |
c.3363A>C; p.K1121N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7875G>T; p.W2625C; |
large_intestine; colon | carcinoma |
c.4192+1G>T; p.?; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.6371G>A; p.C2124Y; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.5130C>A; p.C1710*; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.5177C>A; p.P1726H; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.5502_5503insA; p.A1837fs*10; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.3698delG; p.L1234fs*1; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.5951G>A; p.R1984Q; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.1544A>T; p.H515L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1589C>T; p.P530L; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.5912A>G; p.Y1971C; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.5177C>T; p.P1726L; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.3835A>C; p.K1279Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6794C>T; p.S2265F; |
skin; trunk | malignant_melanoma; nodular |
c.6795C>T; p.S2265S; |
skin; trunk | malignant_melanoma; nodular |
c.3706G>A; p.V1236I; |
lung | carcinoma; adenocarcinoma |
c.2105C>A; p.P702H; |
lung | carcinoma; adenocarcinoma |
c.5458G>A; p.V1820M; |
lung | carcinoma; adenocarcinoma |
c.3010G>T; p.D1004Y; |
lung | carcinoma; adenocarcinoma |
c.2049G>A; p.K683K; |
lung | carcinoma; adenocarcinoma |
c.6259-1G>C; p.?; |
lung | carcinoma; adenocarcinoma |
c.5910G>C; p.E1970D; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1990G>A; p.E664K; |
NS | malignant_melanoma |
c.3468_3469insA; p.R1159fs*11; |
skin; neck | malignant_melanoma |
c.6879A>G; p.L2293L; 5:176653854-176653854 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3108C>G; p.A1036A; |
breast | carcinoma; lobular_carcinoma |
c.4978C>T; p.R1660C; |
prostate | carcinoma |
c.6898G>A; p.A2300T; |
lung | carcinoma; small_cell_carcinoma |
c.7900G>T; p.A2634S; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.4552G>T; p.G1518C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm |
c.1810C>T; p.R604*; |
endometrium | carcinoma; serous_carcinoma |
c.4085G>C; p.G1362A; |
lung | carcinoma; adenocarcinoma |
c.6817T>G; p.C2273G; |
lung | carcinoma; adenocarcinoma |
c.2981C>T; p.S994F; |
lung | carcinoma; squamous_cell_carcinoma |
c.2016A>T; p.T672T; |
lung | carcinoma; squamous_cell_carcinoma |
c.3161G>C; p.R1054T; |
lung | carcinoma; squamous_cell_carcinoma |
c.2919G>C; p.Q973H; |
lung | carcinoma; squamous_cell_carcinoma |
c.5027C>A; p.A1676D; 5:176619656-176619656 |
ovary | carcinoma; serous_carcinoma |
c.7259C>G; p.P2420R; 5:176654234-176654234 |
ovary | carcinoma; serous_carcinoma |
c.6152-2A>C; p.?; |
ovary | carcinoma; serous_carcinoma |
c.290T>A; p.F97Y; |
ovary | carcinoma; serous_carcinoma |
c.3959G>A; p.R1320Q; |
ovary | carcinoma; serous_carcinoma |
c.2620G>T; p.E874*; |
lung | carcinoma; squamous_cell_carcinoma |
c.5332C>T; p.R1778*; |
lung | carcinoma; squamous_cell_carcinoma |
c.6022G>A; p.D2008N; |
lung | carcinoma; squamous_cell_carcinoma |
c.729A>G; p.E243E; |
lung | carcinoma; adenocarcinoma |
c.5458G>A; p.V1820M; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.4919G>C; p.C1640S; |
lung | carcinoma; squamous_cell_carcinoma |
c.1457C>G; p.S486C; |
lung | carcinoma; adenocarcinoma |
c.6020T>C; p.I2007T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.6020T>C; p.I2007T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1641C>T; p.A547A; |
lung | carcinoma; adenocarcinoma |
c.2989G>T; p.G997C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1925C>T; p.S642F; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1618G>T; p.G540W; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2551G>C; p.D851H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4642-1G>C; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.1766C>G; p.S589C; |
lung | carcinoma; squamous_cell_carcinoma |
c.4411C>T; p.R1471*; |
lung | carcinoma; squamous_cell_carcinoma |
c.2105C>A; p.P702H; |
lung | carcinoma; adenocarcinoma |
c.5856G>T; p.R1952R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3032G>C; p.S1011T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3430G>A; p.E1144K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4781T>G; p.F1594C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6050G>A; p.R2017Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3817C>T; p.R1273C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2903A>G; p.K968R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4001C>A; p.S1334Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4569C>T; p.P1523P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1964G>A; p.S655N; |
breast | carcinoma |
c.252A>G; p.V84V; |
breast | carcinoma |
c.4412G>A; p.R1471Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6700A>G; p.T2234A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6738G>T; p.Q2246H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6999C>A; p.P2333P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3055C>T; p.R1019C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2822G>A; p.R941H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5254delA; p.K1753fs*10; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5996_5997TC>GT; p.L1999R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2717A>C; p.K906T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5956C>T; p.R1986C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6336A>G; p.E2112E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1176C>T; p.F392F; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2183T>C; p.V728A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.29G>T; p.R10I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1019G>T; p.R340M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3639A>G; p.I1213M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3810G>T; p.E1270D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4163A>C; p.E1388A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.722G>T; p.R241I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4187C>T; p.T1396M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4366G>T; p.D1456Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.7332G>A; p.Q2444Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5432G>A; p.R1811Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1832G>T; p.R611L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.812T>C; p.L271S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3535G>T; p.E1179*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7489C>A; p.L2497M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1176C>T; p.F392F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1634C>T; p.T545M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3747G>T; p.K1249N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3965G>A; p.R1322Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7769C>T; p.P2590L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12C>T; p.T4T; |
breast | carcinoma |
c.5900T>G; p.F1967C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4621C>G; p.L1541V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2297C>T; p.S766L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5604A>G; p.P1868P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1319G>A; p.R440Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5139C>T; p.C1713C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7980G>A; p.Q2660Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1290G>A; p.Q430Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.959A>G; p.K320R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4189C>G; p.P1397A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4871C>A; p.P1624Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4878T>G; p.T1626T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7391G>A; p.R2464H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3100T>G; p.F1034V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5982T>G; p.T1994T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3205C>T; p.Q1069*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6380C>T; p.A2127V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1837C>A; p.L613M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4856G>A; p.C1619Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5957G>A; p.R1986H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.641C>T; p.T214I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5145A>G; p.E1715E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.295G>A; p.D99N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.7908C>G; p.L2636L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1452A>G; p.E484E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6620C>A; p.P2207H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7443G>A; p.E2481E; |
breast | carcinoma |
c.7317G>A; p.L2439L; |
breast | carcinoma |
c.2418A>C; p.I806I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5423A>G; p.H1808R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2007C>T; p.F669F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3366T>G; p.I1122M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5043C>A; p.I1681I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2802C>A; p.V934V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4467T>C; p.D1489D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6850G>C; p.E2284Q; |
urinary_tract; bladder | carcinoma |
c.205T>C; p.Y69H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6576C>T; p.F2192F; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1236+2T>C; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5028T>C; p.A1676A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7260T>C; p.P2420P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4585delA; p.M1531fs*43; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6298_6300delAAG; p.K2102delK; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2445C>T; p.C815C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7260T>C; p.P2420P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.605G>A; p.G202D; |
urinary_tract; bladder | carcinoma |
c.97G>A; p.G33S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.820A>C; p.I274L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1483G>A; p.A495T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3484C>T; p.R1162C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5740C>T; p.R1914C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4603C>T; p.R1535C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1001G>A; p.R334H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1492C>T; p.R498*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5617A>G; p.I1873V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7055G>T; p.R2352I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1176C>T; p.F392F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7258C>T; p.P2420S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2503G>T; p.G835C; |
breast | carcinoma |
c.5719A>G; p.I1907V; |
urinary_tract; bladder | carcinoma |
c.460G>C; p.E154Q; |
urinary_tract; bladder | carcinoma |
c.7104C>G; p.A2368A; |
urinary_tract; bladder | carcinoma |
c.5951G>T; p.R1984L; |
urinary_tract; bladder | carcinoma |
c.5319G>C; p.E1773D; |
urinary_tract; bladder | carcinoma |
c.6430G>A; p.A2144T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5532G>C; p.R1844S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2796C>G; p.N932K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5036C>G; p.S1679*; |
cervix | carcinoma; squamous_cell_carcinoma |
c.1471G>A; p.E491K; |
prostate | carcinoma; adenocarcinoma |
c.3388G>C; p.E1130Q; |
urinary_tract; bladder | carcinoma |
c.2517G>A; p.L839L; |
urinary_tract; bladder | carcinoma |
c.709delA; p.N238fs*23; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7260T>C; p.P2420P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6603T>A; p.S2201S; |
prostate | carcinoma; adenocarcinoma |
c.7322C>T; p.P2441L; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.6542C>T; p.S2181F; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.5369A>G; p.D1790G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.111C>A; p.S37S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.816C>T; p.N272N; |
stomach | adenocarcinoma |
c.5887delA; p.K1964fs*5; |
stomach | adenocarcinoma |
c.1968_1969delAG; p.E657fs*2; |
stomach | adenocarcinoma |