| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1277 |
Name | COL1A1 |
Synonymous | OI4;collagen, type I, alpha 1;COL1A1;collagen, type I, alpha 1 |
Definition | alpha-1 type I collagen|collagen alpha 1 chain type I|collagen alpha-1(I) chain|collagen of skin, tendon and bone, alpha-1 chain|pro-alpha-1 collagen type 1 |
Position | 17q21.33 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for COL1A1 | ||
PCGP somatic mutation [Top] | ||
There is no record for COL1A1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.103+1G>A; p.?; |
liver | carcinoma; hepatocellular_carcinoma |
c.1886G>A; p.G629D; 17:45625043-45625043 |
breast | carcinoma; lobular_carcinoma |
c.4135C>T; p.Q1379*; |
NS | malignant_melanoma |
c.4135C>T; p.Q1379*; |
NS | malignant_melanoma |
c.731G>A; p.R244H; |
pancreas | carcinoid-endocrine_tumour; islet_cell |
c.1916C>T; p.S639F; |
NS | malignant_melanoma |
c.1916C>T; p.S639F; |
NS | malignant_melanoma |
c.1837G>A; p.D613N; |
skin; upper_leg | malignant_melanoma |
c.3779G>A; p.R1260H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1667delC; p.P556fs*24; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4150C>G; p.L1384V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3649C>T; p.R1217W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1459C>T; p.R487C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2013C>A; p.G671G; |
liver | carcinoma |
c.4247C>T; p.T1416M; |
liver | carcinoma |
c.1767+4A>T; p.?; |
liver | carcinoma |
c.2858G>A; p.G953D; |
liver | carcinoma; hepatocellular_carcinoma |
c.2109C>A; p.P703P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.3169G>A; p.V1057I; |
oesophagus | carcinoma; adenocarcinoma |
c.731G>A; p.R244H; |
oesophagus | carcinoma; adenocarcinoma |
c.3503G>A; p.R1168H; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.2630C>T; p.P877L; |
oesophagus | carcinoma; adenocarcinoma |
c.2883C>T; p.V961V; |
oesophagus | carcinoma; adenocarcinoma |
c.4070T>C; p.L1357P; |
oesophagus | carcinoma; adenocarcinoma |
c.1069C>T; p.P357S; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.519A>G; p.G173G; |
liver | carcinoma |
c.3043G>T; p.E1015*; |
liver | carcinoma; hepatocellular_carcinoma |
c.1930G>T; p.G644C; |
liver | carcinoma |
c.3421C>T; p.R1141*; |
large_intestine; colon | carcinoma |
c.2903_2904delGA; p.G971fs*10; |
large_intestine; colon | carcinoma |
c.1765G>C; p.A589P; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1707C>G; p.G569G; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.864G>T; p.E288D; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.3074G>A; p.G1025E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.859G>T; p.G287C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2771C>T; p.P924L; |
skin; leg | malignant_melanoma |
c.2771C>T; p.P924L; |
skin; leg | malignant_melanoma |
c.737C>T; p.P246L; |
lung | carcinoma; adenocarcinoma |
c.1251delC; p.S418fs*123; |
lung | carcinoma; adenocarcinoma |
c.2012G>A; p.G671D; |
lung | carcinoma; adenocarcinoma |
c.2410G>A; p.E804K; |
lung | carcinoma; adenocarcinoma |
c.934C>T; p.R312C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.1322G>A; p.S441N; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.934C>T; p.R312C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.934C>T; p.R312C; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.2615G>A; p.G872D; |
NS | malignant_melanoma |
c.3487G>C; p.G1163R; |
autonomic_ganglia | neuroblastoma |
c.1130G>A; p.G377D; |
ovary | carcinoma |
c.1009A>T; p.T337S; |
liver | carcinoma; hepatocellular_carcinoma |
c.1815C>T; p.G605G; |
breast | carcinoma; lobular_carcinoma |
c.3300C>T; p.G1100G; |
liver | carcinoma |
c.1101G>C; p.Q367H; |
lung | carcinoma; small_cell_carcinoma |
c.3277C>T; p.R1093C; |
prostate | adenoma |
c.2320C>A; p.P774T; |
autonomic_ganglia | neuroblastoma |
c.1301G>A; p.G434D; 17:45627459-45627459 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.3703C>T; p.L1235F; 17:45619111-45619111 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.696+1delG; p.?; 17:45630091-45630091 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2320C>T; p.P774S; 17:45623200-45623200 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1027C>T; p.P343S; 17:45628312-45628312 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.261C>T; p.P87P; 17:45632150-45632150 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.3994G>A; p.D1332N; |
lung | carcinoma; adenocarcinoma |
c.658C>T; p.R220*; 17:45630130-45630130 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1337G>C; p.G446A; |
ovary | carcinoma; serous_carcinoma |
c.3591C>G; p.D1197E; |
ovary | carcinoma; serous_carcinoma |
c.1809C>T; p.P603P; |
lung | carcinoma; squamous_cell_carcinoma |
c.1937C>T; p.P646L; |
lung | carcinoma; squamous_cell_carcinoma |
c.3092G>A; p.G1031D; |
lung | carcinoma; squamous_cell_carcinoma |
c.3002G>A; p.G1001D; |
lung | carcinoma; squamous_cell_carcinoma |
c.2883C>T; p.V961V; |
lung | carcinoma; squamous_cell_carcinoma |
c.85G>A; p.E29K; |
lung | carcinoma; squamous_cell_carcinoma |
c.1184G>T; p.G395V; |
lung | carcinoma; adenocarcinoma |
c.2482G>A; p.E828K; |
lung | carcinoma; squamous_cell_carcinoma |
c.2829+2T>C; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.1135G>T; p.A379S; |
lung | carcinoma; adenocarcinoma |
c.2611C>T; p.P871S; |
lung | carcinoma; adenocarcinoma |
c.1492G>A; p.A498T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.551C>G; p.S184C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.512C>T; p.S171L; |
lung | carcinoma; squamous_cell_carcinoma |
c.4376G>T; p.G1459V; |
lung | carcinoma; squamous_cell_carcinoma |
c.1008_1025del18; p.T337_P342delTGPAGP; |
ovary | carcinoma; serous_carcinoma |
c.1735G>A; p.V579M; |
lung | carcinoma; squamous_cell_carcinoma |
c.2107C>A; p.P703T; |
lung | carcinoma; squamous_cell_carcinoma |
c.4244G>T; p.C1415F; |
lung | carcinoma; squamous_cell_carcinoma |
c.1776C>T; p.P592P; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.651G>T; p.M217I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1641T>C; p.P547P; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4257C>A; p.T1419T; |
breast | carcinoma |
c.2027G>T; p.R676I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2424delC; p.G809fs*299; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1918C>A; p.P640T; |
breast | carcinoma |
c.3794G>A; p.C1265Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.659G>T; p.R220L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3589G>A; p.D1197N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.964C>T; p.R322C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2283C>T; p.G761G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.305C>A; p.P102H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2533G>A; p.G845R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3542G>A; p.G1181D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3058G>A; p.A1020T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2361C>T; p.S787S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2283C>T; p.G761G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1443_1444insTA; p.G482fs*1; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4183G>T; p.E1395*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3926A>G; p.Q1309R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.145G>C; p.D49H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2283C>T; p.G761G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.731G>A; p.R244H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2728C>T; p.R910C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.630G>A; p.E210E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4307G>A; p.R1436H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1300G>T; p.G434C; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.2424delC; p.G809fs*299; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4362C>T; p.F1454F; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2871G>A; p.Q957Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2783C>A; p.P928H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3589G>A; p.D1197N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3339C>T; p.F1113F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2596G>A; p.G866S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.472-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3272G>A; p.G1091D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1414C>T; p.R472*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1264G>A; p.G422S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2892T>C; p.P964P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2636C>T; p.A879V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2004C>T; p.G668G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1675G>A; p.A559T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2258C>T; p.A753V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3673C>T; p.R1225C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.668C>G; p.P223R; |
urinary_tract; bladder | carcinoma |
c.4145G>A; p.G1382D; |
breast | carcinoma |
c.3460G>C; p.G1154R; |
breast | carcinoma |
c.2880G>A; p.V960V; |
breast | carcinoma |
c.2590G>A; p.A864T; |
breast | carcinoma |
c.1018G>A; p.A340T; |
breast | carcinoma |
c.3631G>A; p.D1211N; |
prostate | carcinoma; adenocarcinoma |
c.2631T>A; p.P877P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2049C>T; p.G683G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3630C>T; p.H1210H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3050C>T; p.A1017V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1444G>A; p.G482R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3124G>A; p.A1042T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2216delC; p.P739fs*27; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1400G>T; p.G467V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3329_3355del27; p.H1110_G1118delHRGFSGLQG; |
breast | carcinoma |
c.3737G>A; p.R1246Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.697-1G>A; p.?; |
breast | carcinoma |
c.2362G>A; p.G788S; |
breast | carcinoma |
c.3897C>T; p.C1299C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3978C>T; p.F1326F; |
prostate | carcinoma; adenocarcinoma |
c.3704T>C; p.L1235P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1920C>T; p.P640P; |
prostate | carcinoma; adenocarcinoma |
c.4161C>T; p.A1387A; |
prostate | carcinoma |
c.2450C>T; p.P817L; |
skin | malignant_melanoma |
c.1538C>T; p.S513F; |
skin | malignant_melanoma |
c.2534G>A; p.G845E; |
skin | malignant_melanoma |
c.4291A>G; p.T1431A; |
skin | malignant_melanoma |
c.611C>T; p.P204L; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.3682G>T; p.D1228Y; |
stomach | adenocarcinoma |