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

Basic Information

Gene ID

8678

Name

BECN1

Synonymous

beclin 1, autophagy related;BECN1;beclin 1, autophagy related

Definition

ATG6 autophagy related 6 homolog|beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)|beclin 1 (coiled-coil, moesin-like BCL2-interacting protein)|beclin-1|coiled-coil myosin-like BCL2-interacting protein

Position

17q21

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

Top

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 0.13.

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.365T>C; p.L122P; 17:42818667-42818667

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.720G>C; p.Q240H; 17:42816018-42816018

 central_nervous_system; medullaglioma; oligodendroglioma_Grade_IIISubstitution - Missense

c.1091A>G; p.K364R; 17:42811748-42811748

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.38A>G; p.Q13R; 17:42823840-42823840

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.358G>T; p.G120W; 17:42818674-42818674

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.542A>G; p.Q181R; 17:42818362-42818362

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedSubstitution - Missense

c.542A>G; p.Q181R; 17:42818362-42818362

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.375_377delCAT; p.I125delI; 17:42818655-42818657

 livercarcinomaDeletion - In frame

c.999C>T; p.Y333Y; 17:42813990-42813990

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.224A>T; p.Q75L; 17:42819584-42819584

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.784G>T; p.D262Y; 17:42815954-42815954

 thyroidcarcinomaSubstitution - Missense

c.558G>A; p.E186E; 17:42818346-42818346

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.292A>C; p.T98P; 17:42818846-42818846

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.294T>G; p.T98T; 17:42818844-42818844

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1133A>G; p.Q378R; 17:42811706-42811706

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.494G>T; p.C165F; 17:42818410-42818410

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1041G>C; p.K347N; 17:42813948-42813948

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.14A>G; p.K5R; 17:42823864-42823864

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.405A>G; p.P135P; 17:42818627-42818627

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1042-3C>G; p.?; 17:42811800-42811800

 livercarcinomaUnknown

c.1159G>A; p.E387K; 17:42811680-42811680

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1092G>C; p.K364N; 17:42811747-42811747

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1092G>C; p.K364N; 17:42811747-42811747

 pancreascarcinomaSubstitution - Missense

c.1000G>A; p.G334R; 17:42813989-42813989

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.804C>T; p.N268N; 17:42815934-42815934

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.676G>T; p.E226*; 17:42818228-42818228

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.424G>C; p.D142H; 17:42818608-42818608

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.75G>A; p.L25L; 17:42823803-42823803

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.918T>C; p.A306A; 17:42814586-42814586

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.412G>A; p.E138K; 17:42818620-42818620

 skinmalignant_melanomaSubstitution - Missense

c.59G>A; p.R20H; 17:42823819-42823819

 kidneyother; neoplasmSubstitution - Missense

c.1120G>T; p.D374Y; 17:42811719-42811719

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.318C>T; p.G106G; 17:42818820-42818820

 oesophaguscarcinomaSubstitution - coding silent

c.1324T>C; p.W442R; 17:42810789-42810789

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.251C>T; p.P84L; 17:42819557-42819557

 skinmalignant_melanomaSubstitution - Missense

c.995C>T; p.P332L; 17:42813994-42813994

 skinmalignant_melanomaSubstitution - Missense

c.995C>T; p.P332L; 17:42813994-42813994

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1313G>T; p.W438L; 17:42810800-42810800

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.133C>G; p.P45A; 17:42820839-42820839

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.133C>G; p.P45A; 17:42820839-42820839

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.238C>T; p.R80C; 17:42819570-42819570

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1214A>G; p.D405G; 17:42810899-42810899

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.93C>G; p.F31L; 17:42823785-42823785

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.459C>T; p.N153N; 17:42818573-42818573

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.694G>T; p.E232*; 17:42816044-42816044

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.859A>G; p.N287D; 17:42814645-42814645

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.927G>C; p.Q309H; 17:42814577-42814577

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.609G>A; p.K203K; 17:42818295-42818295

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.962T>C; p.M321T; 17:42814542-42814542

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.684-2A>C; p.?; 17:42816056-42816056

 livercarcinomaUnknown

c.199G>A; p.E67K; 17:42819609-42819609

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.199G>A; p.E67K; 17:42819609-42819609

 skin; trunkmalignant_melanomaSubstitution - Missense

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