Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

79365

Name

BHLHE41

Synonymous

basic helix-loop-helix family, member e41;BHLHE41;basic helix-loop-helix family, member e41

Definition

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

Position

12p12.1

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

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We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.27.

The copy number variations for various cancers

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The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

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

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