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General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

1464

Name

CSPG4

Synonymous

HMW-MAA|MCSP|MCSPG|MEL-CSPG|MSK16|NG2;chondroitin sulfate proteoglycan 4;CSPG4;chondroitin sulfate proteoglycan 4

Definition

chondroitin sulfate proteoglycan 4 (melanoma-associated)|chondroitin sulfate proteoglycan NG2|melanoma chondroitin sulfate proteoglycan|melanoma-associated chondroitin sulfate proteoglycan

Position

15q24.2

Gene Type

protein-coding

Gene Mutation:

PCGP germline mutation
PCGP somatic mutation
COSMIC somatic mutation

PCGP germline mutation   [Top]

There is no record for CSPG4

PCGP somatic mutation   [Top]

There is no record for CSPG4

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.3023G>A; p.R1008Q;

livercarcinoma; hepatocellular_carcinoma

c.6551C>A; p.T2184K;

livercarcinoma; hepatocellular_carcinoma

c.1492G>A; p.D498N;

NSmalignant_melanoma

c.1492G>A; p.D498N;

NSmalignant_melanoma

c.2014C>T; p.R672*;

large_intestine; coloncarcinoma; adenocarcinoma

c.1870G>A; p.G624S;

large_intestine; coloncarcinoma; adenocarcinoma

c.5020C>A; p.L1674I;

large_intestine; coloncarcinoma; adenocarcinoma

c.6551C>T; p.T2184M;

large_intestine; coloncarcinoma; adenocarcinoma

c.6863C>G; p.A2288G;

large_intestine; coloncarcinoma; adenocarcinoma

c.5002T>C; p.W1668R;

large_intestine; coloncarcinoma; adenocarcinoma

c.4504G>A; p.G1502S;

pancreascarcinoid-endocrine_tumour; islet_cell

c.6014T>C; p.I2005T;

livercarcinoma

c.5053G>T; p.D1685Y;

livercarcinoma; hepatocellular_carcinoma

c.1423G>A; p.G475R;

pancreascarcinoma; adenocarcinoma

c.6794G>T; p.R2265L;

oesophaguscarcinoma; adenocarcinoma

c.5938C>A; p.R1980S;

oesophaguscarcinoma; adenocarcinoma

c.6827G>A; p.R2276H;

livercarcinoma; hepatocellular_carcinoma

c.1334C>T; p.A445V;

livercarcinoma; hepatocellular_carcinoma

c.1993A>T; p.I665F;

large_intestine; coloncarcinoma; adenocarcinoma

c.6520G>C; p.A2174P;

breastcarcinoma

c.5498C>T; p.P1833L;

skin; trunkmalignant_melanoma; nodular

c.4993G>A; p.E1665K;

lungcarcinoma; adenocarcinoma

c.4993G>A; p.E1665K;

lungcarcinoma; adenocarcinoma

c.5608T>C; p.Y1870H;

lungcarcinoma; adenocarcinoma

c.2968C>A; p.R990S;

lungcarcinoma; adenocarcinoma

c.1118C>A; p.T373K;

lungcarcinoma; adenocarcinoma

c.6729C>T; p.L2243L;

lungcarcinoma; adenocarcinoma

c.3226C>A; p.R1076R;

lungcarcinoma; adenocarcinoma

c.2259C>A; p.Y753*;

lungcarcinoma; adenocarcinoma

c.1505G>A; p.R502H;

lungcarcinoma; adenocarcinoma

c.4007T>A; p.V1336E;

lungcarcinoma; adenocarcinoma

c.4303G>T; p.D1435Y;

lungcarcinoma; adenocarcinoma

c.5979C>A; p.G1993G;

lungcarcinoma; adenocarcinoma

c.2426C>A; p.A809D;

lungcarcinoma; adenocarcinoma

c.975G>A; p.G325G;

lungcarcinoma; adenocarcinoma

c.740G>T; p.R247L;

lungcarcinoma; adenocarcinoma

c.6231A>G; p.T2077T;

lungcarcinoma; adenocarcinoma

c.3264G>C; p.K1088N;

lungcarcinoma; adenocarcinoma

c.4030C>A; p.L1344I;

lungcarcinoma; adenocarcinoma

c.6520G>C; p.A2174P;

breastcarcinoma

c.893T>C; p.I298T;

skin; trunkmalignant_melanoma

c.1287C>A; p.T429T;

autonomic_ganglianeuroblastoma

c.381G>A; p.G127G;

autonomic_ganglianeuroblastoma

c.2454C>T; p.P818P;

pancreascarcinoma; ductal_carcinoma

c.4578G>A; p.A1526A;

breastcarcinoma

c.1356G>A; p.V452V;

prostatecarcinoma

c.6520G>C; p.A2174P;

breastcarcinoma; ductal_carcinoma

c.5729G>A; p.G1910E;

autonomic_ganglianeuroblastoma

c.1966G>T; p.V656L;

autonomic_ganglianeuroblastoma

c.6126T>A; p.T2042T;

lungcarcinoma; adenocarcinoma

c.6858C>A; p.L2286L;

lungcarcinoma; adenocarcinoma

c.4722G>C; p.V1574V;

lungcarcinoma; adenocarcinoma

c.684T>A; p.F228L;

lungcarcinoma; adenocarcinoma

c.5718C>T; p.F1906F; 15:73756197-73756197

ovarycarcinoma; serous_carcinoma

c.1317G>T; p.V439V;

lungcarcinoma; squamous_cell_carcinoma

c.3589G>A; p.V1197I; 15:73766872-73766872

ovarycarcinoma; serous_carcinoma

c.4670G>A; p.R1557H;

ovarycarcinoma; serous_carcinoma

c.774C>A; p.G258G;

lungcarcinoma; squamous_cell_carcinoma

c.3741C>A; p.I1247I;

lungcarcinoma; squamous_cell_carcinoma

c.6024C>A; p.G2008G;

lungcarcinoma; squamous_cell_carcinoma

c.4537A>T; p.I1513F;

ovarycarcinoma; serous_carcinoma

c.131C>T; p.T44M;

lungcarcinoma; adenocarcinoma

c.1764G>A; p.E588E;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.305C>T; p.T102M;

lungcarcinoma; adenocarcinoma

c.1494C>A; p.D498E;

lungcarcinoma; adenocarcinoma

c.839C>T; p.A280V;

lungcarcinoma; adenocarcinoma

c.1869C>T; p.A623A;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.6024C>A; p.G2008G;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.3429C>A; p.G1143G;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.1430G>A; p.R477H;

lungcarcinoma; adenocarcinoma

c.1922G>T; p.R641L;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.4199C>A; p.P1400Q;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.2276T>C; p.L759P;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.1361C>G; p.P454R;

lungcarcinoma; squamous_cell_carcinoma

c.4942C>G; p.Q1648E;

lungcarcinoma; squamous_cell_carcinoma

c.1505G>A; p.R502H;

lungcarcinoma; squamous_cell_carcinoma

c.3413C>T; p.P1138L;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.6197C>A; p.T2066N;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.4926C>A; p.A1642A;

lungcarcinoma; adenocarcinoma

c.1779G>C; p.Q593H;

lungcarcinoma; adenocarcinoma

c.4028C>A; p.P1343H;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.3724G>C; p.V1242L;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.5898C>A; p.L1966L;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.6151G>T; p.A2051S;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.2482G>C; p.A828P;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.787G>A; p.V263M;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.1198A>C; p.T400P;

breastcarcinoma

c.2060C>T; p.S687L;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.6755C>T; p.T2252M;

endometriumcarcinoma; endometrioid_carcinoma

c.5043G>A; p.P1681P;

large_intestine; coloncarcinoma; adenocarcinoma

c.6957G>C; p.Q2319H;

breastcarcinoma

c.6794G>A; p.R2265H;

large_intestine; coloncarcinoma; adenocarcinoma

c.6740G>A; p.R2247Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.3589G>A; p.V1197I; 15:73766872-73766872

large_intestine; caecumcarcinoma; adenocarcinoma

c.1206C>T; p.A402A;

large_intestine; caecumcarcinoma; adenocarcinoma

c.3591T>C; p.V1197V;

large_intestine; coloncarcinoma; adenocarcinoma

c.6547C>T; p.R2183W;

large_intestine; coloncarcinoma; adenocarcinoma

c.6317_6318insG; p.S2107fs*13;

large_intestine; coloncarcinoma; adenocarcinoma

c.1321G>A; p.E441K;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.2190G>A; p.A730A;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.1348A>T; p.R450W;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.1998C>T; p.H666H;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.1305C>T; p.S435S;

large_intestine; coloncarcinoma; adenocarcinoma

c.1081A>G; p.N361D;

large_intestine; coloncarcinoma; adenocarcinoma

c.1167C>T; p.D389D;

large_intestine; coloncarcinoma; adenocarcinoma

c.4992C>T; p.P1664P;

breastcarcinoma

c.978G>A; p.G326G;

breastcarcinoma

c.1167C>T; p.D389D;

breastcarcinoma

c.1365G>A; p.T455T;

breastcarcinoma

c.3822C>T; p.I1274I;

endometriumcarcinoma; endometrioid_carcinoma

c.6312C>T; p.P2104P;

endometriumcarcinoma; endometrioid_carcinoma

c.6079C>A; p.L2027M;

endometriumcarcinoma; endometrioid_carcinoma

c.1219C>T; p.P407S;

endometriumcarcinoma; endometrioid_carcinoma

c.6312C>T; p.P2104P;

endometriumcarcinoma; endometrioid_carcinoma

c.6120C>T; p.N2040N;

endometriumcarcinoma; endometrioid_carcinoma

c.5039C>T; p.S1680L;

endometriumcarcinoma; endometrioid_carcinoma

c.3988G>A; p.D1330N;

endometriumcarcinoma; endometrioid_carcinoma

c.740G>T; p.R247L;

breastcarcinoma

c.3912T>C; p.P1304P;

breastcarcinoma

c.5121C>A; p.L1707L;

endometriumcarcinoma; endometrioid_carcinoma

c.4504G>A; p.G1502S;

endometriumcarcinoma; endometrioid_carcinoma

c.6755C>T; p.T2252M;

endometriumcarcinoma; endometrioid_carcinoma

c.1494C>T; p.D498D;

endometriumcarcinoma; endometrioid_carcinoma

c.5137C>T; p.L1713F;

large_intestine; caecumcarcinoma; adenocarcinoma

c.181G>A; p.E61K;

large_intestine; caecumcarcinoma; adenocarcinoma

c.4075C>G; p.P1359A;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.674C>A; p.T225N;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.754T>C; p.Y252H;

endometriumcarcinoma; endometrioid_carcinoma

c.491G>A; p.R164Q;

endometriumcarcinoma; endometrioid_carcinoma

c.2424G>T; p.E808D;

endometriumcarcinoma; endometrioid_carcinoma

c.560A>G; p.D187G;

endometriumcarcinoma; endometrioid_carcinoma

c.5290G>A; p.E1764K;

endometriumcarcinoma; endometrioid_carcinoma

c.534C>T; p.R178R;

breastcarcinoma

c.385C>T; p.L129L;

breastcarcinoma

c.2462T>C; p.F821S;

breastcarcinoma

c.6129G>A; p.V2043V;

breastcarcinoma

c.4815C>G; p.L1605L;

endometriumcarcinoma; endometrioid_carcinoma

c.1558C>T; p.L520L;

endometriumcarcinoma; endometrioid_carcinoma

c.6209C>T; p.A2070V;

endometriumcarcinoma; endometrioid_carcinoma

c.2949T>C; p.D983D;

endometriumcarcinoma; endometrioid_carcinoma

c.3327C>T; p.D1109D;

large_intestine; coloncarcinoma; adenocarcinoma

c.3746T>C; p.V1249A;

large_intestine; coloncarcinoma; adenocarcinoma

c.1848C>A; p.F616L;

large_intestine; coloncarcinoma; adenocarcinoma

c.923C>T; p.S308L;

large_intestine; coloncarcinoma; adenocarcinoma

c.1796C>G; p.S599C;

prostatecarcinoma; adenocarcinoma

c.3071G>T; p.S1024I;

prostatecarcinoma; adenocarcinoma

c.4877C>T; p.P1626L;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1430G>A; p.R477H;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.4992delC; p.E1665fs*10;

large_intestine; caecumcarcinoma; adenocarcinoma

c.841G>A; p.D281N;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1131A>G; p.A377A;

large_intestine; rectumcarcinoma; adenocarcinoma

c.4813C>A; p.L1605I;

endometriumcarcinoma; endometrioid_carcinoma

c.1647C>A; p.V549V;

endometriumcarcinoma; endometrioid_carcinoma

c.5367C>T; p.G1789G;

endometriumcarcinoma; endometrioid_carcinoma

c.774C>A; p.G258G;

large_intestine; coloncarcinoma; adenocarcinoma

c.2644T>G; p.Y882D;

large_intestine; coloncarcinoma; adenocarcinoma

c.4470G>A; p.A1490A;

large_intestine; coloncarcinoma; adenocarcinoma

c.5557C>T; p.R1853W;

large_intestine; coloncarcinoma; adenocarcinoma

c.2583_2607del25; p.T862fs*88;

breastcarcinoma

c.3834G>T; p.V1278V;

breastcarcinoma

c.2931C>T; p.S977S;

large_intestine; coloncarcinoma; adenocarcinoma

c.1508A>T; p.K503M;

cervixcarcinoma; squamous_cell_carcinoma

c.3069C>A; p.I1023I;

cervixcarcinoma; squamous_cell_carcinoma

c.5365G>A; p.G1789S;

breastcarcinoma

c.5593C>G; p.P1865A;

endometriumcarcinoma; endometrioid_carcinoma

c.6954C>T; p.G2318G;

large_intestine; coloncarcinoma; adenocarcinoma

c.4279G>A; p.E1427K;

urinary_tract; bladdercarcinoma

c.5056G>A; p.V1686M;

large_intestine; coloncarcinoma; adenocarcinoma

c.734delG; p.G245fs*98;

large_intestine; coloncarcinoma; adenocarcinoma

c.4421C>A; p.P1474H;

large_intestine; caecumcarcinoma; adenocarcinoma

c.4862G>A; p.R1621H;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myeloma

c.4168C>A; p.L1390I;

prostatecarcinoma

c.5422G>A; p.A1808T;

skinmalignant_melanoma

c.5732G>A; p.S1911N;

skin; scalpcarcinoma; squamous_cell_carcinoma

c.1217G>T; p.W406L;

skin; earcarcinoma; squamous_cell_carcinoma


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