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

Basic Information

Gene ID

51100

Name

SH3GLB1

Synonymous

SH3-domain GRB2-like endophilin B1;SH3GLB1;SH3-domain GRB2-like endophilin B1

Definition

Bax-interacting factor 1|SH3 domain-containing GRB2-like protein B1|SH3-containing protein SH3GLB1|endophilin-B1|protein phosphatase 1, regulatory subunit 70

Position

1p22

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 0.13.

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.818C>G; p.S273*; 1:86742264-86742264

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.288T>G; p.L96L; 1:86719580-86719580

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.771C>T; p.S257S; 1:86742217-86742217

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1094A>G; p.N365S; 1:86743231-86743231

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.746A>G; p.Q249R; 1:86735164-86735164

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.268C>T; p.R90C; 1:86719560-86719560

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.997A>G; p.T333A; 1:86743134-86743134

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.522T>C; p.A174A; 1:86724357-86724357

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.240T>C; p.Y80Y; 1:86719532-86719532

 livercarcinomaSubstitution - coding silent

c.240T>C; p.Y80Y; 1:86719532-86719532

 livercarcinomaSubstitution - coding silent

c.569C>T; p.S190L; 1:86724404-86724404

 skinmalignant_melanomaSubstitution - Missense

c.791A>G; p.N264S; 1:86742237-86742237

 breastcarcinomaSubstitution - Missense

c.982G>T; p.A328S; 1:86742428-86742428

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.883C>T; p.P295S; 1:86742329-86742329

 skinmalignant_melanomaSubstitution - Missense

c.883C>T; p.P295S; 1:86742329-86742329

 skinmalignant_melanomaSubstitution - Missense

c.979C>T; p.L327L; 1:86742425-86742425

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.695A>T; p.E232V; 1:86735113-86735113

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4A>G; p.N2D; 1:86704903-86704903

 thyroidother; neoplasmSubstitution - Missense

c.235G>C; p.V79L; 1:86719527-86719527

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.806C>T; p.T269I; 1:86742252-86742252

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.931A>T; p.R311W; 1:86742377-86742377

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.201G>C; p.L67F; 1:86715852-86715852

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.674G>A; p.R225H; 1:86735092-86735092

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.427T>G; p.F143V; 1:86722623-86722623

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.762T>A; p.S254R; 1:86742208-86742208

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.850A>G; p.M284V; 1:86742296-86742296

 livercarcinomaSubstitution - Missense

c.356T>G; p.I119S; 1:86722552-86722552

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.579G>T; p.Q193H; 1:86734610-86734610

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1006A>C; p.S336R; 1:86743143-86743143

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.393A>G; p.A131A; 1:86722589-86722589

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.839G>A; p.G280D; 1:86742285-86742285

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1025delC; p.S342fs*1; 1:86743162-86743162

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.607G>T; p.D203Y; 1:86734638-86734638

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.833C>T; p.A278V; 1:86742279-86742279

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.833C>T; p.A278V; 1:86742279-86742279

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.716C>T; p.A239V; 1:86735134-86735134

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.414G>A; p.T138T; 1:86722610-86722610

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.261T>C; p.A87A; 1:86719553-86719553

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.102G>A; p.E34E; 1:86715753-86715753

 breastcarcinomaSubstitution - coding silent

c.876C>A; p.I292I; 1:86742322-86742322

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.805A>G; p.T269A; 1:86742251-86742251

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.570+1G>C; p.?; 1:86724406-86724406

 stomachcarcinoma; adenocarcinomaUnknown

c.1002G>C; p.V334V; 1:86743139-86743139

 breastcarcinomaSubstitution - coding silent

c.747G>T; p.Q249H; 1:86735165-86735165

 breastcarcinomaSubstitution - Missense

c.229G>T; p.E77*; 1:86719521-86719521

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.418G>T; p.A140S; 1:86722614-86722614

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.229G>T; p.E77*; 1:86719521-86719521

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

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