| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 80781 |
Name | COL18A1 |
Synonymous | KNO|KNO1|KS;collagen, type XVIII, alpha 1;COL18A1;collagen, type XVIII, alpha 1 |
Definition | antiangiogenic agent|collagen alpha-1(XVIII) chain|endostatin|multi-functional protein MFP |
Position | 21q22.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for COL18A1 | ||
PCGP somatic mutation [Top] | ||
There is no record for COL18A1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1844G>A; p.G615D; |
liver | carcinoma; hepatocellular_carcinoma |
c.1249C>A; p.L417M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1855G>A; p.D619N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3442G>A; p.G1148S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2599G>A; p.G867R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2378A>G; p.D793G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2854G>A; p.D952N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3425G>A; p.S1142N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4427C>T; p.T1476M; |
pancreas | carcinoma; acinar_carcinoma |
c.1815C>T; p.P605P; |
liver | carcinoma |
c.1992+1G>A; p.?; 21:45724863-45724863 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2742C>T; p.F914F; |
oesophagus | carcinoma; adenocarcinoma |
c.4551C>G; p.A1517A; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1159C>G; p.Q387E; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.3892G>A; p.A1298T; |
lung | carcinoma; squamous_cell_carcinoma |
c.1244A>T; p.H415L; |
lung | carcinoma; adenocarcinoma |
c.1283C>T; p.S428F; |
lung | carcinoma; adenocarcinoma |
c.882G>T; p.S294S; |
liver | carcinoma |
c.1989G>T; p.L663L; |
liver | carcinoma; hepatocellular_carcinoma |
c.2473G>T; p.G825C; |
liver | carcinoma; hepatocellular_carcinoma |
c.3206_3207insC; p.G1072fs*9; |
liver | carcinoma |
c.2320_2328delCCAGGCCCC; p.P783_P785delPGP; |
liver | carcinoma |
c.1392C>T; p.P464P; |
liver | carcinoma |
c.4466T>G; p.L1489R; |
liver | carcinoma |
c.1938+1G>T; p.?; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.225A>T; p.T75T; |
lung | carcinoma; adenocarcinoma |
c.1343C>T; p.A448V; |
lung | carcinoma; adenocarcinoma |
c.4488G>C; p.Q1496H; |
lung | carcinoma; adenocarcinoma |
c.306G>T; p.A102A; |
lung | carcinoma; adenocarcinoma |
c.2712C>T; p.S904S; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.4318G>A; p.D1440N; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.2626G>A; p.G876R; |
pancreas | carcinoma; ductal_carcinoma |
c.229C>T; p.P77S; |
pancreas | carcinoma; ductal_carcinoma |
c.1141G>A; p.A381T; |
breast | carcinoma; ductal_carcinoma |
c.19G>A; p.G7S; |
lung | carcinoma; adenocarcinoma |
c.1510G>T; p.G504W; |
lung | carcinoma; squamous_cell_carcinoma |
c.1413G>T; p.T471T; |
lung | carcinoma; squamous_cell_carcinoma |
c.1367C>T; p.A456V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3705C>T; p.A1235A; |
lung | carcinoma; squamous_cell_carcinoma |
c.2451G>T; p.L817L; |
lung | carcinoma; adenocarcinoma |
c.3259G>A; p.E1087K; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.4204C>A; p.R1402S; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.2202G>A; p.Q734Q; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.1450A>T; p.T484S; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.1067T>C; p.L356P; |
ovary | carcinoma; serous_carcinoma |
c.4524C>G; p.L1508L; |
lung | carcinoma; squamous_cell_carcinoma |
c.4406G>A; p.S1469N; |
lung | carcinoma; squamous_cell_carcinoma |
c.234C>T; p.G78G; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2091A>G; p.G697G; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3190G>A; p.A1064T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1131_1143del13; p.E378fs*18; |
breast | carcinoma |
c.2416C>T; p.R806*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2083G>A; p.V695I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.818C>A; p.S273*; |
breast | carcinoma |
c.2929G>A; p.G977R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3513delC; p.P1173fs*38; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3522G>A; p.G1174G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.847G>T; p.E283*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4303C>T; p.R1435C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1093A>C; p.R365R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2416C>T; p.R806*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.335C>A; p.A112D; |
large_intestine; rectum | NS |
c.2174G>A; p.R725K; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3364_3372delGGCCCCCCA; p.P1127_P1129delPGP; |
endometrium | carcinoma; endometrioid_carcinoma |
c.337G>A; p.E113K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2417G>A; p.R806Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2597G>A; p.R866Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1014C>T; p.F338F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.39G>A; p.L13L; |
breast | carcinoma |
c.1211A>C; p.K404T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3207delC; p.G1072fs*17; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4149C>T; p.R1383R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.792C>T; p.F264F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1874G>T; p.R625I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2132C>T; p.P711L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.730G>A; p.V244I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.727G>A; p.D243N; |
breast | carcinoma |
c.3214G>A; p.G1072R; |
breast | carcinoma |
c.17G>A; p.C6Y; |
breast | carcinoma |
c.3069A>T; p.G1023G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3579_3580insCCCCCTGGG; p.G1202_T1203insPPG; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3544C>T; p.H1182Y; |
urinary_tract; bladder | carcinoma |
c.755C>A; p.P252Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.804C>A; p.F268L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2718G>A; p.P906P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1008C>T; p.P336P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2697+1G>A; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1868_1869delGA; p.G626fs*24; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2475C>T; p.G825G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3879G>A; p.A1293A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2476G>A; p.V826M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2526C>T; p.P842P; |
urinary_tract; bladder | carcinoma |
c.3024T>C; p.D1008D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3206G>C; p.G1069A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2794G>A; p.E932K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3510_3511insGGCCCCCCC; p.P1176_S1177insGPP; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2697C>T; p.D899D; |
breast | carcinoma |
c.1379T>C; p.V460A; |
cervix | carcinoma; squamous_cell_carcinoma |
c.1519C>T; p.R507W; |
breast | carcinoma |
c.3702G>C; p.V1234V; |
breast | carcinoma |
c.4329C>T; p.D1443D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3206_3207insC; p.G1072fs*9; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3060C>T; p.G1020G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2859C>T; p.G953G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2932C>T; p.R978W; |
urinary_tract; bladder | carcinoma |
c.885G>A; p.A295A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2967A>G; p.G989G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1117delC; p.R373fs*27; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2704G>A; p.V902I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.615C>G; p.L205L; |
urinary_tract; bladder | carcinoma |
c.786C>A; p.Y262*; |
kidney | carcinoma; renal_cell_carcinoma |
c.2698-9C>T; p.?; |
stomach | adenocarcinoma |