Cancer metastasis database

Annotation category 5

Gene information

Gene ID 79365
Symbol

BHLHE41

Synonymous

BHLHB3|DEC2|SHARP1|hDEC2

Full name

basic helix-loop-helix family, member e41

Gene description

basic helix-loop-helix domain containing, class B, 3|class E basic helix-loop-helix protein 41|differentially expressed in chondrocytes protein 2|enhancer-of-split and hairy-related protein 1

Cytoband

12p12.1

Gene type

protein-coding

Synonymous

MIM:606200; HGNC:HGNC:16617; Ensembl:ENSG00000123095; HPRD:16204; Vega:OTTHUMG00000169174

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.144G>A; p.P48P; 12:26124162-26124162

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.71A>G; p.Y24C; 12:26124574-26124574

 pancreascarcinomaSubstitution - Missense

c.167G>T; p.R56I; 12:26124139-26124139

 pancreascarcinomaSubstitution - Missense

c.167G>T; p.R56I; 12:26124139-26124139

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.893C>T; p.A298V; 12:26122622-26122622

 thyroidother; neoplasmSubstitution - Missense

c.893C>T; p.A298V; 12:26122622-26122622

 thyroidother; neoplasmSubstitution - Missense

c.260T>C; p.V87A; 12:26123716-26123716

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.391T>G; p.F131V; 12:26123124-26123124

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.172G>A; p.D58N; 12:26124134-26124134

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.301G>A; p.A101T; 12:26123675-26123675

 breastcarcinomaSubstitution - Missense

c.1197G>C; p.A399A; 12:26122318-26122318

 thyroidother; neoplasmSubstitution - coding silent

c.421G>T; p.E141*; 12:26123094-26123094

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.575_576insGC; p.P193fs*89; 12:26122939-26122940

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.112C>T; p.R38*; 12:26124533-26124533

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.95C>A; p.P32H; 12:26124550-26124550

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.95C>A; p.P32H; 12:26124550-26124550

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.437T>A; p.L146H; 12:26123078-26123078

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1313T>C; p.V438A; 12:26122202-26122202

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.373C>T; p.Q125*; 12:26123142-26123142

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.108G>A; p.M36I; 12:26124537-26124537

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.13A>C; p.I5L; 12:26124767-26124767

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.13A>C; p.I5L; 12:26124767-26124767

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.157G>A; p.E53K; 12:26124149-26124149

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1188G>C; p.A396A; 12:26122327-26122327

 thyroidother; neoplasmSubstitution - coding silent

c.157G>T; p.E53*; 12:26124149-26124149

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.733G>A; p.E245K; 12:26122782-26122782

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.300C>A; p.T100T; 12:26123676-26123676

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.827C>T; p.A276V; 12:26122688-26122688

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.893C>G; p.A298G; 12:26122622-26122622

 livercarcinomaSubstitution - Missense

c.251A>G; p.E84G; 12:26123725-26123725

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.360G>A; p.L120L; 12:26123155-26123155

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.165_169delAAGAA; p.R57fs*3; 12:26124137-26124141

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.165_169delAAGAA; p.R57fs*3; 12:26124137-26124141

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaDeletion - Frameshift

c.436C>T; p.L146F; 12:26123079-26123079

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.553C>A; p.P185T; 12:26122962-26122962

 breastcarcinomaSubstitution - Missense

c.146A>G; p.H49R; 12:26124160-26124160

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.289A>C; p.K97Q; 12:26123687-26123687

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.752A>G; p.D251G; 12:26122763-26122763

 pleurapulmonary_blastomaSubstitution - Missense

c.6C>T; p.D2D; 12:26124774-26124774

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1191A>C; p.A397A; 12:26122324-26122324

 thyroidother; neoplasmSubstitution - coding silent

c.170G>A; p.R57K; 12:26124136-26124136

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.333T>C; p.I111I; 12:26123643-26123643

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.556C>G; p.L186V; 12:26122959-26122959

 breastcarcinomaSubstitution - Missense

c.126G>A; p.K42K; 12:26124519-26124519

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent