| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 633 |
Name | BGN |
Synonymous | biglycan;BGN;biglycan |
Definition | biglycan proteoglycan|bone/cartilage proteoglycan I|bone/cartilage proteoglycan-I|dermatan sulphate proteoglycan I|small leucine-rich protein 1A |
Position | Xq28 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.947G>A; p.G316D; 23:153508285-153508285 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.52C>T; p.P18S; 23:153504683-153504683 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.819G>T; p.L273L; 23:153507095-153507095 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.456G>C; p.E152D; 23:153505967-153505967 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.615C>T; p.F205F; 23:153506578-153506578 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.65G>A; p.R22K; 23:153504696-153504696 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.121G>A; p.A41T; 23:153504752-153504752 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.937A>G; p.T313A; 23:153508275-153508275 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.574G>A; p.G192R; 23:153506537-153506537 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.955G>A; p.D319N; 23:153508293-153508293 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1027C>T; p.P343S; 23:153508365-153508365 |
skin | malignant_melanoma | Substitution - Missense |
c.884G>C; p.G295A; 23:153507160-153507160 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.114T>C; p.D38D; 23:153504745-153504745 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.300C>T; p.N100N; 23:153505299-153505299 |
pancreas | carcinoma | Substitution - coding silent |
c.47C>A; p.A16D; 23:153504678-153504678 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.138C>A; p.T46T; 23:153504769-153504769 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.797G>C; p.R266T; 23:153507073-153507073 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.796A>T; p.R266W; 23:153507072-153507072 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.170C>T; p.P57L; 23:153504801-153504801 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.910-1G>A; p.?; 23:153508247-153508247 |
skin | malignant_melanoma | Unknown |
c.310G>A; p.E104K; 23:153505309-153505309 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>A; p.E104K; 23:153505309-153505309 |
thyroid | carcinoma | Substitution - Missense |
c.42C>T; p.S14S; 23:153504673-153504673 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1058G>A; p.R353H; 23:153508396-153508396 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1020C>T; p.N340N; 23:153508358-153508358 |
liver | carcinoma | Substitution - coding silent |
c.907C>T; p.Q303*; 23:153507183-153507183 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1020C>T; p.N340N; 23:153508358-153508358 |
liver | carcinoma | Substitution - coding silent |
c.377T>A; p.I126N; 23:153505888-153505888 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.919C>G; p.L307V; 23:153508257-153508257 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.515G>A; p.R172H; 23:153506026-153506026 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.141G>C; p.S47S; 23:153504772-153504772 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.771-1G>A; p.?; 23:153507046-153507046 |
skin | malignant_melanoma | Unknown |
c.502G>A; p.D168N; 23:153506013-153506013 |
skin | malignant_melanoma | Substitution - Missense |
c.316C>T; p.R106C; 23:153505315-153505315 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.494G>A; p.R165H; 23:153506005-153506005 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.231C>T; p.S77S; 23:153504862-153504862 |
liver | carcinoma | Substitution - coding silent |
c.181G>C; p.A61P; 23:153504812-153504812 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.718A>T; p.K240*; 23:153506871-153506871 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.63G>A; p.Q21Q; 23:153504694-153504694 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.999C>T; p.N333N; 23:153508337-153508337 |
liver | carcinoma | Substitution - coding silent |
c.999C>T; p.N333N; 23:153508337-153508337 |
liver | carcinoma | Substitution - coding silent |
c.142G>T; p.G48C; 23:153504773-153504773 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.480C>T; p.S160S; 23:153505991-153505991 |
skin | malignant_melanoma | Substitution - coding silent |
c.640C>T; p.R214C; 23:153506603-153506603 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.389A>G; p.H130R; 23:153505900-153505900 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.733G>A; p.E245K; 23:153506886-153506886 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.733G>A; p.E245K; 23:153506886-153506886 |
skin | malignant_melanoma | Substitution - Missense |
c.733G>A; p.E245K; 23:153506886-153506886 |
pancreas | carcinoma | Substitution - Missense |
c.926C>A; p.S309Y; 23:153508264-153508264 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4T>C; p.W2R; 23:153504635-153504635 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7C>T; p.P3S; 23:153504638-153504638 |
skin | malignant_melanoma | Substitution - Missense |
c.954C>T; p.N318N; 23:153508292-153508292 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.864G>T; p.K288N; 23:153507140-153507140 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.805G>A; p.E269K; 23:153507081-153507081 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.1046C>T; p.P349L; 23:153508384-153508384 |
skin | malignant_melanoma | Substitution - Missense |
c.266C>T; p.S89F; 23:153505265-153505265 |
skin | malignant_melanoma | Substitution - Missense |
c.1046C>T; p.P349L; 23:153508384-153508384 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.24_25GT>TA; p.S9T; 23:153504655-153504656 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.616G>A; p.D206N; 23:153506579-153506579 |
thyroid | carcinoma | Substitution - Missense |
c.214C>A; p.R72R; 23:153504845-153504845 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1023C>T; p.P341P; 23:153508361-153508361 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.975C>T; p.F325F; 23:153508313-153508313 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.375G>A; p.K125K; 23:153505886-153505886 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.298A>G; p.N100D; 23:153505297-153505297 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.540C>T; p.S180S; 23:153506051-153506051 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.434T>C; p.I145T; 23:153505945-153505945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.854_856delACA; p.N287delN; 23:153507130-153507132 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.770G>T; p.R257M; 23:153506923-153506923 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.309C>T; p.S103S; 23:153505308-153505308 |
breast | carcinoma | Substitution - coding silent |
c.514_515delCG; p.R172fs*29; 23:153506025-153506026 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.798G>T; p.R266S; 23:153507074-153507074 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.412C>T; p.R138W; 23:153505923-153505923 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.412C>T; p.R138W; 23:153505923-153505923 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1047G>A; p.P349P; 23:153508385-153508385 |
breast | carcinoma | Substitution - coding silent |
c.1100A>G; p.K367R; 23:153508438-153508438 |
pleura | pulmonary_blastoma | Substitution - Missense |
c.515delG; p.R172fs*14; 23:153506026-153506026 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.751C>T; p.R251C; 23:153506904-153506904 |
skin | malignant_melanoma | Substitution - Missense |
c.751C>T; p.R251C; 23:153506904-153506904 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.980T>G; p.V327G; 23:153508318-153508318 |
breast | carcinoma | Substitution - Missense |
c.564C>T; p.I188I; 23:153506075-153506075 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.509G>A; p.R170H; 23:153506020-153506020 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.509G>A; p.R170H; 23:153506020-153506020 |
breast | carcinoma | Substitution - Missense |
c.504C>T; p.D168D; 23:153506015-153506015 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.504C>T; p.D168D; 23:153506015-153506015 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |