Entrez Gene

Basic Information
Gene ID	571
Name	BACH1
Synonymous	BTB and CNC homology 1, basic leucine zipper transcription factor 1;BACH1;BTB and CNC homology 1, basic leucine zipper transcription factor 1
Definition	basic region leucine zipper transcriptional regulator BACH1\|transcription regulator protein BACH1
Position	21q22.11
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1724G>A; p.R575H; 21:29329641-29329641	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1245G>T; p.Q415H; 21:29327069-29327069	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1949T>C; p.F650S; 21:29342571-29342571	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1949T>C; p.F650S; 21:29342571-29342571	large_intestine; colon	carcinoma	Substitution - Missense
c.1523C>T; p.T508I; 21:29327347-29327347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1690A>C; p.R564R; 21:29329607-29329607	thyroid	other; neoplasm	Substitution - coding silent
c.223C>T; p.L75F; 21:29321503-29321503	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.425G>T; p.R142I; 21:29326249-29326249	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.882T>C; p.D294D; 21:29326706-29326706	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1441G>T; p.D481Y; 21:29327265-29327265	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.150C>T; p.S50S; 21:29321430-29321430	skin	malignant_melanoma	Substitution - coding silent
c.150C>T; p.S50S; 21:29321430-29321430	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1613G>A; p.R538Q; 21:29329530-29329530	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1613G>A; p.R538Q; 21:29329530-29329530	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1613G>A; p.R538Q; 21:29329530-29329530	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1613G>A; p.R538Q; 21:29329530-29329530	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.133T>C; p.F45L; 21:29321413-29321413	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.54C>T; p.T18T; 21:29321334-29321334	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.54C>T; p.T18T; 21:29321334-29321334	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.188_204del17; p.I63fs*14; 21:29321468-29321484	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.1994C>T; p.A665V; 21:29342616-29342616	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.809G>A; p.C270Y; 21:29326633-29326633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1701C>A; p.N567K; 21:29329618-29329618	liver	carcinoma	Substitution - Missense
c.1701C>A; p.N567K; 21:29329618-29329618	liver	carcinoma	Substitution - Missense
c.1414T>C; p.C472R; 21:29327238-29327238	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1414T>C; p.C472R; 21:29327238-29327238	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1414T>C; p.C472R; 21:29327238-29327238	large_intestine; colon	carcinoma	Substitution - Missense
c.1414T>C; p.C472R; 21:29327238-29327238	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.775T>C; p.S259P; 21:29326599-29326599	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.488G>T; p.R163M; 21:29326312-29326312	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.863C>A; p.P288H; 21:29326687-29326687	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.515A>G; p.E172G; 21:29326339-29326339	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.96G>A; p.V32V; 21:29321376-29321376	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1685_1687delGAA; p.R564delR; 21:29329602-29329604	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1290G>T; p.Q430H; 21:29327114-29327114	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2081G>A; p.R694Q; 21:29342703-29342703	skin	malignant_melanoma	Substitution - Missense
c.2081G>A; p.R694Q; 21:29342703-29342703	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.453G>T; p.Q151H; 21:29326277-29326277	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2048G>T; p.C683F; 21:29342670-29342670	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.84G>A; p.R28R; 21:29321364-29321364	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.84G>A; p.R28R; 21:29321364-29321364	skin	malignant_melanoma	Substitution - coding silent
c.1225G>A; p.D409N; 21:29327049-29327049	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1594C>T; p.R532W; 21:29329511-29329511	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1594C>T; p.R532W; 21:29329511-29329511	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1813C>T; p.H605Y; 21:29342435-29342435	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1441_1443delGAT; p.D482delD; 21:29327265-29327267	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1066G>A; p.V356I; 21:29326890-29326890	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2203G>A; p.D735N; 21:29342825-29342825	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.683G>T; p.R228I; 21:29326507-29326507	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1586A>G; p.N529S; 21:29329503-29329503	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.540G>T; p.Q180H; 21:29326364-29326364	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1220G>A; p.S407N; 21:29327044-29327044	breast	carcinoma	Substitution - Missense
c.2023C>A; p.R675R; 21:29342645-29342645	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.794G>A; p.G265E; 21:29326618-29326618	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1624C>T; p.Q542*; 21:29329541-29329541	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1985G>T; p.G662V; 21:29342607-29342607	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2020G>T; p.D674Y; 21:29342642-29342642	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.972T>G; p.S324S; 21:29326796-29326796	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1869A>C; p.K623N; 21:29342491-29342491	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.358G>T; p.E120*; 21:29326182-29326182	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1474T>C; p.C492R; 21:29327298-29327298	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2119G>T; p.E707*; 21:29342741-29342741	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.995A>G; p.Y332C; 21:29326819-29326819	liver	carcinoma	Substitution - Missense
c.995A>G; p.Y332C; 21:29326819-29326819	liver	carcinoma	Substitution - Missense
c.1624C>G; p.Q542E; 21:29329541-29329541	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1507G>A; p.D503N; 21:29327331-29327331	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1262C>T; p.A421V; 21:29327086-29327086	breast	carcinoma	Substitution - Missense
c.398C>T; p.S133F; 21:29326222-29326222	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.841G>A; p.E281K; 21:29326665-29326665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.841G>A; p.E281K; 21:29326665-29326665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.841G>A; p.E281K; 21:29326665-29326665	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1745T>C; p.I582T; 21:29329662-29329662	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.610A>G; p.S204G; 21:29326434-29326434	liver	carcinoma	Substitution - Missense
c.610A>G; p.S204G; 21:29326434-29326434	liver	carcinoma	Substitution - Missense
c.686A>C; p.K229T; 21:29326510-29326510	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1543T>C; p.C515R; 21:29327367-29327367	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2077G>A; p.A693T; 21:29342699-29342699	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2077G>A; p.A693T; 21:29342699-29342699	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.2147G>A; p.R716H; 21:29342769-29342769	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.136C>A; p.R46S; 21:29321416-29321416	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.427A>C; p.K143Q; 21:29326251-29326251	skin	malignant_melanoma	Substitution - Missense
c.1024A>C; p.N342H; 21:29326848-29326848	pancreas	carcinoma	Substitution - Missense
c.1024A>C; p.N342H; 21:29326848-29326848	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1442A>T; p.D481V; 21:29327266-29327266	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.810T>C; p.C270C; 21:29326634-29326634	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.894G>C; p.Q298H; 21:29326718-29326718	liver	carcinoma	Substitution - Missense
c.725G>T; p.G242V; 21:29326549-29326549	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2044C>T; p.P682S; 21:29342666-29342666	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.719G>A; p.R240H; 21:29326543-29326543	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.128A>G; p.Q43R; 21:29321408-29321408	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.128A>G; p.Q43R; 21:29321408-29321408	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.718C>T; p.R240C; 21:29326542-29326542	skin	malignant_melanoma	Substitution - Missense
c.963T>A; p.Y321*; 21:29326787-29326787	liver	carcinoma	Substitution - Nonsense
c.963T>A; p.Y321*; 21:29326787-29326787	liver	carcinoma	Substitution - Nonsense
c.2120A>G; p.E707G; 21:29342742-29342742	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.803C>T; p.P268L; 21:29326627-29326627	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.442T>C; p.S148P; 21:29326266-29326266	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.135C>T; p.F45F; 21:29321415-29321415	skin	malignant_melanoma	Substitution - coding silent
c.389T>C; p.F130S; 21:29326213-29326213	skin; neck	malignant_melanoma	Substitution - Missense
c.997G>A; p.G333S; 21:29326821-29326821	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.938C>A; p.S313Y; 21:29326762-29326762	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.955G>T; p.G319*; 21:29326779-29326779	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.46C>T; p.H16Y; 21:29321326-29321326	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1833T>C; p.G611G; 21:29342455-29342455	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2024G>A; p.R675Q; 21:29342646-29342646	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.261A>C; p.L87F; 21:29326085-29326085	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.403G>A; p.A135T; 21:29326227-29326227	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1417T>A; p.S473T; 21:29327241-29327241	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1271G>A; p.G424D; 21:29327095-29327095	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.426delA; p.K144fs*22; 21:29326250-29326250	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.177C>T; p.F59F; 21:29321457-29321457	skin	malignant_melanoma	Substitution - coding silent
c.597A>G; p.L199L; 21:29326421-29326421	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.111C>T; p.T37T; 21:29321391-29321391	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1618G>T; p.D540Y; 21:29329535-29329535	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1523_1524CC>TT; p.T508I; 21:29327347-29327348	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1424A>G; p.N475S; 21:29327248-29327248	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2127T>C; p.A709A; 21:29342749-29342749	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1171C>T; p.R391*; 21:29326995-29326995	breast	carcinoma	Substitution - Nonsense
c.2142G>A; p.Q714Q; 21:29342764-29342764	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2142G>A; p.Q714Q; 21:29342764-29342764	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.257C>T; p.P86L; 21:29326081-29326081	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1700A>G; p.N567S; 21:29329617-29329617	pancreas	carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]