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Pediatric cancer database
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;

livercarcinoma; hepatocellular_carcinoma

c.1249C>A; p.L417M;

large_intestine; coloncarcinoma; adenocarcinoma

c.1855G>A; p.D619N;

large_intestine; coloncarcinoma; adenocarcinoma

c.3442G>A; p.G1148S;

large_intestine; coloncarcinoma; adenocarcinoma

c.2599G>A; p.G867R;

large_intestine; coloncarcinoma; adenocarcinoma

c.2378A>G; p.D793G;

large_intestine; coloncarcinoma; adenocarcinoma

c.2854G>A; p.D952N;

large_intestine; coloncarcinoma; adenocarcinoma

c.3425G>A; p.S1142N;

large_intestine; coloncarcinoma; adenocarcinoma

c.4427C>T; p.T1476M;

pancreascarcinoma; acinar_carcinoma

c.1815C>T; p.P605P;

livercarcinoma

c.1992+1G>A; p.?; 21:45724863-45724863

central_nervous_system; brainglioma; astrocytoma_Grade_IV

c.2742C>T; p.F914F;

oesophaguscarcinoma; adenocarcinoma

c.4551C>G; p.A1517A;

oesophagus; lower_thirdcarcinoma; adenocarcinoma

c.1159C>G; p.Q387E;

oesophagus; lower_thirdcarcinoma; adenocarcinoma

c.3892G>A; p.A1298T;

lungcarcinoma; squamous_cell_carcinoma

c.1244A>T; p.H415L;

lungcarcinoma; adenocarcinoma

c.1283C>T; p.S428F;

lungcarcinoma; adenocarcinoma

c.882G>T; p.S294S;

livercarcinoma

c.1989G>T; p.L663L;

livercarcinoma; hepatocellular_carcinoma

c.2473G>T; p.G825C;

livercarcinoma; hepatocellular_carcinoma

c.3206_3207insC; p.G1072fs*9;

livercarcinoma

c.2320_2328delCCAGGCCCC; p.P783_P785delPGP;

livercarcinoma

c.1392C>T; p.P464P;

livercarcinoma

c.4466T>G; p.L1489R;

livercarcinoma

c.1938+1G>T; p.?;

upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinoma

c.225A>T; p.T75T;

lungcarcinoma; adenocarcinoma

c.1343C>T; p.A448V;

lungcarcinoma; adenocarcinoma

c.4488G>C; p.Q1496H;

lungcarcinoma; adenocarcinoma

c.306G>T; p.A102A;

lungcarcinoma; adenocarcinoma

c.2712C>T; p.S904S;

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma

c.4318G>A; p.D1440N;

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.2626G>A; p.G876R;

pancreascarcinoma; ductal_carcinoma

c.229C>T; p.P77S;

pancreascarcinoma; ductal_carcinoma

c.1141G>A; p.A381T;

breastcarcinoma; ductal_carcinoma

c.19G>A; p.G7S;

lungcarcinoma; adenocarcinoma

c.1510G>T; p.G504W;

lungcarcinoma; squamous_cell_carcinoma

c.1413G>T; p.T471T;

lungcarcinoma; squamous_cell_carcinoma

c.1367C>T; p.A456V;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.3705C>T; p.A1235A;

lungcarcinoma; squamous_cell_carcinoma

c.2451G>T; p.L817L;

lungcarcinoma; adenocarcinoma

c.3259G>A; p.E1087K;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.4204C>A; p.R1402S;

lung; middle_lobecarcinoma; adenocarcinoma

c.2202G>A; p.Q734Q;

lung; middle_lobecarcinoma; adenocarcinoma

c.1450A>T; p.T484S;

lung; middle_lobecarcinoma; adenocarcinoma

c.1067T>C; p.L356P;

ovarycarcinoma; serous_carcinoma

c.4524C>G; p.L1508L;

lungcarcinoma; squamous_cell_carcinoma

c.4406G>A; p.S1469N;

lungcarcinoma; squamous_cell_carcinoma

c.234C>T; p.G78G;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.2091A>G; p.G697G;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.3190G>A; p.A1064T;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.1131_1143del13; p.E378fs*18;

breastcarcinoma

c.2416C>T; p.R806*;

endometriumcarcinoma; endometrioid_carcinoma

c.2083G>A; p.V695I;

large_intestine; coloncarcinoma; adenocarcinoma

c.818C>A; p.S273*;

breastcarcinoma

c.2929G>A; p.G977R;

large_intestine; coloncarcinoma; adenocarcinoma

c.3513delC; p.P1173fs*38;

large_intestine; coloncarcinoma; adenocarcinoma

c.3522G>A; p.G1174G;

large_intestine; coloncarcinoma; adenocarcinoma

c.847G>T; p.E283*;

large_intestine; caecumcarcinoma; adenocarcinoma

c.4303C>T; p.R1435C;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1093A>C; p.R365R;

large_intestine; coloncarcinoma; adenocarcinoma

c.2416C>T; p.R806*;

large_intestine; coloncarcinoma; adenocarcinoma

c.335C>A; p.A112D;

large_intestine; rectumNS

c.2174G>A; p.R725K;

large_intestine; rectumcarcinoma; adenocarcinoma

c.3364_3372delGGCCCCCCA; p.P1127_P1129delPGP;

endometriumcarcinoma; endometrioid_carcinoma

c.337G>A; p.E113K;

endometriumcarcinoma; endometrioid_carcinoma

c.2417G>A; p.R806Q;

endometriumcarcinoma; endometrioid_carcinoma

c.2597G>A; p.R866Q;

endometriumcarcinoma; endometrioid_carcinoma

c.1014C>T; p.F338F;

endometriumcarcinoma; endometrioid_carcinoma

c.39G>A; p.L13L;

breastcarcinoma

c.1211A>C; p.K404T;

endometriumcarcinoma; endometrioid_carcinoma

c.3207delC; p.G1072fs*17;

large_intestine; caecumcarcinoma; adenocarcinoma

c.4149C>T; p.R1383R;

large_intestine; caecumcarcinoma; adenocarcinoma

c.792C>T; p.F264F;

endometriumcarcinoma; endometrioid_carcinoma

c.1874G>T; p.R625I;

endometriumcarcinoma; endometrioid_carcinoma

c.2132C>T; p.P711L;

endometriumcarcinoma; endometrioid_carcinoma

c.730G>A; p.V244I;

endometriumcarcinoma; endometrioid_carcinoma

c.727G>A; p.D243N;

breastcarcinoma

c.3214G>A; p.G1072R;

breastcarcinoma

c.17G>A; p.C6Y;

breastcarcinoma

c.3069A>T; p.G1023G;

endometriumcarcinoma; endometrioid_carcinoma

c.3579_3580insCCCCCTGGG; p.G1202_T1203insPPG;

endometriumcarcinoma; endometrioid_carcinoma

c.3544C>T; p.H1182Y;

urinary_tract; bladdercarcinoma

c.755C>A; p.P252Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.804C>A; p.F268L;

large_intestine; coloncarcinoma; adenocarcinoma

c.2718G>A; p.P906P;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1008C>T; p.P336P;

large_intestine; coloncarcinoma; adenocarcinoma

c.2697+1G>A; p.?;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1868_1869delGA; p.G626fs*24;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2475C>T; p.G825G;

large_intestine; caecumcarcinoma; adenocarcinoma

c.3879G>A; p.A1293A;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2476G>A; p.V826M;

large_intestine; coloncarcinoma; adenocarcinoma

c.2526C>T; p.P842P;

urinary_tract; bladdercarcinoma

c.3024T>C; p.D1008D;

endometriumcarcinoma; endometrioid_carcinoma

c.3206G>C; p.G1069A;

endometriumcarcinoma; endometrioid_carcinoma

c.2794G>A; p.E932K;

endometriumcarcinoma; endometrioid_carcinoma

c.3510_3511insGGCCCCCCC; p.P1176_S1177insGPP;

large_intestine; coloncarcinoma; adenocarcinoma

c.2697C>T; p.D899D;

breastcarcinoma

c.1379T>C; p.V460A;

cervixcarcinoma; squamous_cell_carcinoma

c.1519C>T; p.R507W;

breastcarcinoma

c.3702G>C; p.V1234V;

breastcarcinoma

c.4329C>T; p.D1443D;

large_intestine; rectumcarcinoma; adenocarcinoma

c.3206_3207insC; p.G1072fs*9;

large_intestine; coloncarcinoma; adenocarcinoma

c.3060C>T; p.G1020G;

large_intestine; coloncarcinoma; adenocarcinoma

c.2859C>T; p.G953G;

large_intestine; coloncarcinoma; adenocarcinoma

c.2932C>T; p.R978W;

urinary_tract; bladdercarcinoma

c.885G>A; p.A295A;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2967A>G; p.G989G;

large_intestine; coloncarcinoma; adenocarcinoma

c.1117delC; p.R373fs*27;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2704G>A; p.V902I;

large_intestine; caecumcarcinoma; adenocarcinoma

c.615C>G; p.L205L;

urinary_tract; bladdercarcinoma

c.786C>A; p.Y262*;

kidneycarcinoma; renal_cell_carcinoma

c.2698-9C>T; p.?;

stomachadenocarcinoma


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