Entrez Gene

Basic Information
Gene ID	1605
Name	DAG1
Synonymous	dystroglycan 1 (dystrophin-associated glycoprotein 1);DAG1;dystroglycan 1 (dystrophin-associated glycoprotein 1)
Definition	dystroglycan
Position	3p21
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1017G>T; p.V339V; 3:49531528-49531528	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2336G>A; p.R779Q; 3:49532847-49532847	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.665T>C; p.L222P; 3:49531176-49531176	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.360delC; p.D123fs*11; 3:49530871-49530871	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2426_2427CC>TT; p.P809L; 3:49532937-49532938	skin	malignant_melanoma	Substitution - Missense
c.1500G>T; p.K500N; 3:49532011-49532011	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1026C>T; p.P342P; 3:49531537-49531537	skin	malignant_melanoma	Substitution - coding silent
c.405T>C; p.A135A; 3:49530916-49530916	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.976delC; p.P327fs*56; 3:49531487-49531487	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.683T>A; p.V228E; 3:49531194-49531194	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.687G>A; p.P229P; 3:49531198-49531198	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2602C>T; p.P868S; 3:49533113-49533113	breast	carcinoma	Substitution - Missense
c.1049C>T; p.P350L; 3:49531560-49531560	skin	malignant_melanoma	Substitution - Missense
c.1649C>T; p.S550F; 3:49532160-49532160	skin	malignant_melanoma	Substitution - Missense
c.1622G>A; p.R541Q; 3:49532133-49532133	breast	carcinoma	Substitution - Missense
c.1315A>G; p.T439A; 3:49531826-49531826	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1025C>T; p.P342L; 3:49531536-49531536	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.829G>T; p.V277L; 3:49531340-49531340	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1195G>C; p.G399R; 3:49531706-49531706	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2272G>A; p.V758M; 3:49532783-49532783	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2187A>G; p.S729S; 3:49532698-49532698	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1079A>G; p.D360G; 3:49531590-49531590	central_nervous_system; brain	glioma	Substitution - Missense
c.1852C>T; p.L618L; 3:49532363-49532363	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1048C>A; p.P350T; 3:49531559-49531559	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2022C>T; p.I674I; 3:49532533-49532533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2672C>T; p.P891L; 3:49533183-49533183	skin	malignant_melanoma	Substitution - Missense
c.1571A>G; p.Y524C; 3:49532082-49532082	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1723T>C; p.Y575H; 3:49532234-49532234	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1322_1324delCCA; p.T446delT; 3:49531833-49531835	skin	malignant_melanoma	Deletion - In frame
c.684G>A; p.V228V; 3:49531195-49531195	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1685A>G; p.Y562C; 3:49532196-49532196	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.463G>A; p.E155K; 3:49530974-49530974	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.953C>T; p.P318L; 3:49531464-49531464	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2277G>C; p.V759V; 3:49532788-49532788	pancreas	carcinoma	Substitution - coding silent
c.2401G>A; p.A801T; 3:49532912-49532912	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2509C>T; p.P837S; 3:49533020-49533020	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2277G>C; p.V759V; 3:49532788-49532788	pancreas	carcinoma	Substitution - coding silent
c.1136C>T; p.T379I; 3:49531647-49531647	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1136C>T; p.T379I; 3:49531647-49531647	large_intestine; colon	carcinoma	Substitution - Missense
c.1136C>T; p.T379I; 3:49531647-49531647	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.539C>T; p.S180F; 3:49531050-49531050	breast	carcinoma	Substitution - Missense
c.683T>C; p.V228A; 3:49531194-49531194	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2407G>A; p.E803K; 3:49532918-49532918	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1919G>A; p.R640Q; 3:49532430-49532430	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.552G>A; p.A184A; 3:49531063-49531063	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.149T>C; p.M50T; 3:49510683-49510683	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.35C>T; p.P12L; 3:49510569-49510569	skin	malignant_melanoma	Substitution - Missense
c.1164T>C; p.T388T; 3:49531675-49531675	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.300_302delGAA; p.K101delK; 3:49530811-49530813	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - In frame
c.401G>A; p.S134N; 3:49530912-49530912	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1307C>T; p.T436M; 3:49531818-49531818	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2415C>T; p.D805D; 3:49532926-49532926	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2415C>T; p.D805D; 3:49532926-49532926	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.919C>T; p.P307S; 3:49531430-49531430	skin	malignant_melanoma	Substitution - Missense
c.919C>T; p.P307S; 3:49531430-49531430	skin	malignant_melanoma	Substitution - Missense
c.919C>T; p.P307S; 3:49531430-49531430	skin	malignant_melanoma	Substitution - Missense
c.42_43GG>AA; p.G15R; 3:49510576-49510577	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1708G>A; p.V570M; 3:49532219-49532219	pancreas	carcinoma	Substitution - Missense
c.266C>T; p.S89F; 3:49510800-49510800	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1708G>A; p.V570M; 3:49532219-49532219	pancreas	carcinoma	Substitution - Missense
c.1708G>A; p.V570M; 3:49532219-49532219	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2392A>G; p.I798V; 3:49532903-49532903	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.45G>A; p.G15G; 3:49510579-49510579	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.682G>T; p.V228L; 3:49531193-49531193	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.465G>T; p.E155D; 3:49530976-49530976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1117C>T; p.R373*; 3:49531628-49531628	skin	malignant_melanoma	Substitution - Nonsense
c.1365A>C; p.T455T; 3:49531876-49531876	breast	carcinoma	Substitution - coding silent
c.595C>T; p.L199F; 3:49531106-49531106	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.150G>A; p.M50I; 3:49510684-49510684	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.757G>A; p.E253K; 3:49531268-49531268	skin	malignant_melanoma	Substitution - Missense
c.1192C>T; p.P398S; 3:49531703-49531703	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1192C>T; p.P398S; 3:49531703-49531703	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1192C>T; p.P398S; 3:49531703-49531703	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2318T>C; p.I773T; 3:49532829-49532829	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2474C>T; p.P825L; 3:49532985-49532985	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1810G>A; p.A604T; 3:49532321-49532321	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.335C>T; p.S112L; 3:49530846-49530846	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2083G>A; p.A695T; 3:49532594-49532594	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1092G>A; p.G364G; 3:49531603-49531603	skin	malignant_melanoma	Substitution - coding silent
c.2212G>C; p.D738H; 3:49532723-49532723	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2212G>C; p.D738H; 3:49532723-49532723	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.279C>A; p.I93I; 3:49510813-49510813	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1697A>G; p.D566G; 3:49532208-49532208	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.175G>A; p.E59K; 3:49510709-49510709	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2327G>T; p.R776L; 3:49532838-49532838	NS	malignant_melanoma	Substitution - Missense
c.183T>C; p.V61V; 3:49510717-49510717	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.895A>G; p.I299V; 3:49531406-49531406	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.895A>G; p.I299V; 3:49531406-49531406	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1370G>T; p.R457L; 3:49531881-49531881	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1224T>C; p.P408P; 3:49531735-49531735	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.235C>T; p.R79*; 3:49510769-49510769	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.380G>T; p.G127V; 3:49530891-49530891	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.238G>T; p.V80L; 3:49510772-49510772	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2492A>G; p.Y831C; 3:49533003-49533003	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.647G>T; p.S216I; 3:49531158-49531158	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2492A>G; p.Y831C; 3:49533003-49533003	skin	malignant_melanoma	Substitution - Missense
c.847G>A; p.E283K; 3:49531358-49531358	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1258C>T; p.P420S; 3:49531769-49531769	skin	malignant_melanoma	Substitution - Missense
c.982A>G; p.T328A; 3:49531493-49531493	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1341C>A; p.R447R; 3:49531852-49531852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.413T>C; p.L138P; 3:49530924-49530924	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.278T>G; p.I93S; 3:49510812-49510812	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1022C>T; p.T341I; 3:49531533-49531533	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1022C>T; p.T341I; 3:49531533-49531533	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1275G>T; p.K425N; 3:49531786-49531786	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2129C>T; p.S710F; 3:49532640-49532640	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2135G>C; p.S712T; 3:49532646-49532646	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.715T>C; p.S239P; 3:49531226-49531226	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.256T>G; p.L86V; 3:49510790-49510790	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1335G>A; p.T445T; 3:49531846-49531846	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2447C>T; p.P816L; 3:49532958-49532958	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2447C>T; p.P816L; 3:49532958-49532958	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.89A>C; p.H30P; 3:49510623-49510623	breast	carcinoma	Substitution - Missense
c.1250C>T; p.A417V; 3:49531761-49531761	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1966G>A; p.V656M; 3:49532477-49532477	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.933G>A; p.R311R; 3:49531444-49531444	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2086C>A; p.L696I; 3:49532597-49532597	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2086C>A; p.L696I; 3:49532597-49532597	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1369C>T; p.R457W; 3:49531880-49531880	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.226C>T; p.R76C; 3:49510760-49510760	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.931C>T; p.R311W; 3:49531442-49531442	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.931C>T; p.R311W; 3:49531442-49531442	liver	carcinoma	Substitution - Missense
c.931C>T; p.R311W; 3:49531442-49531442	liver	carcinoma	Substitution - Missense
c.931C>T; p.R311W; 3:49531442-49531442	liver	carcinoma	Substitution - Missense
c.968C>T; p.A323V; 3:49531479-49531479	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.447C>T; p.S149S; 3:49530958-49530958	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.497C>T; p.S166L; 3:49531008-49531008	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.362C>T; p.P121L; 3:49530873-49530873	skin; extremity	malignant_melanoma	Substitution - Missense
c.497C>T; p.S166L; 3:49531008-49531008	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1728C>T; p.F576F; 3:49532239-49532239	skin	malignant_melanoma	Substitution - coding silent
c.1900G>A; p.A634T; 3:49532411-49532411	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.363C>T; p.P121P; 3:49530874-49530874	skin	malignant_melanoma	Substitution - coding silent
c.2028G>A; p.G676G; 3:49532539-49532539	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2028G>A; p.G676G; 3:49532539-49532539	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2382_2383GG>AA; p.G795R; 3:49532893-49532894	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2066G>A; p.R689Q; 3:49532577-49532577	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.718G>A; p.A240T; 3:49531229-49531229	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.643C>T; p.R215W; 3:49531154-49531154	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1704C>A; p.S568R; 3:49532215-49532215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.655G>A; p.E219K; 3:49531166-49531166	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1111C>T; p.R371W; 3:49531622-49531622	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1860G>A; p.L620L; 3:49532371-49532371	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.862G>T; p.A288S; 3:49531373-49531373	thyroid	other; neoplasm	Substitution - Missense
c.2335C>T; p.R779W; 3:49532846-49532846	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2335C>T; p.R779W; 3:49532846-49532846	large_intestine; colon	carcinoma	Substitution - Missense
c.1557G>A; p.P519P; 3:49532068-49532068	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1205G>T; p.R402L; 3:49531716-49531716	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1672A>G; p.S558G; 3:49532183-49532183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1555C>T; p.P519S; 3:49532066-49532066	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]