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

Basic Information

Gene ID

10399

Name

GNB2L1

Synonymous

guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1;GNB2L1;guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1

Definition

cell proliferation-inducing gene 21 protein|guanine nucleotide binding protein beta polypeptide 2-like 1|guanine nucleotide-binding protein subunit beta-2-like 1|guanine nucleotide-binding protein subunit beta-like protein 12.3|human lung cancer oncogene

Position

5q35.3

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 0.08.

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.170G>T; p.R57L; 5:181242285-181242285

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.470C>T; p.S157L; 5:181239542-181239542

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.340T>G; p.S114A; 5:181241581-181241581

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.327G>A; p.L109L; 5:181241594-181241594

 skinmalignant_melanomaSubstitution - coding silent

c.107G>C; p.R36P; 5:181243694-181243694

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.74_75insC; p.Q26fs*13; 5:181243726-181243727

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.240A>G; p.S80S; 5:181242215-181242215

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.240A>G; p.S80S; 5:181242215-181242215

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.348C>T; p.D116D; 5:181241573-181241573

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.712G>A; p.A238T; 5:181238164-181238164

 ovaryother; neoplasmSubstitution - Missense

c.712G>A; p.A238T; 5:181238164-181238164

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.342_344delCTC; p.S115delS; 5:181241577-181241579

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.342_344delCTC; p.S115delS; 5:181241577-181241579

 large_intestinecarcinoma; adenocarcinomaDeletion - In frame

c.908C>T; p.T303M; 5:181237023-181237023

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.600C>T; p.V200V; 5:181239103-181239103

 skinmalignant_melanomaSubstitution - coding silent

c.357G>T; p.Q119H; 5:181241564-181241564

 breastcarcinomaSubstitution - Missense

c.224G>A; p.G75D; 5:181242231-181242231

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.637-4C>T; p.?; 5:181238243-181238243

 skinmalignant_melanomaUnknown

c.637-4C>T; p.?; 5:181238243-181238243

 skinmalignant_melanomaUnknown

c.495C>T; p.I165I; 5:181239517-181239517

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.299G>T; p.R100L; 5:181241622-181241622

 skinmalignant_melanomaSubstitution - Missense

c.22C>T; p.R8C; 5:181243779-181243779

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IISubstitution - Missense

c.373C>T; p.R125*; 5:181241548-181241548

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.373C>T; p.R125*; 5:181241548-181241548

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.749C>T; p.A250V; 5:181238127-181238127

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.616C>T; p.L206F; 5:181239087-181239087

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.260T>G; p.L87R; 5:181242195-181242195

 breastcarcinomaSubstitution - Missense

c.396G>A; p.W132*; 5:181241525-181241525

 skinmalignant_melanomaSubstitution - Nonsense

c.462C>G; p.V154V; 5:181239550-181239550

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.283G>A; p.G95S; 5:181241638-181241638

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.594G>A; p.V198V; 5:181239109-181239109

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.784G>C; p.E262Q; 5:181237713-181237713

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.838A>G; p.K280E; 5:181237659-181237659

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.352C>T; p.R118W; 5:181241569-181241569

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.733C>T; p.R245C; 5:181238143-181238143

 skinmalignant_melanomaSubstitution - Missense

c.889-2A>C; p.?; 5:181237044-181237044

 pancreascarcinoma; acinar_carcinomaUnknown

c.821T>G; p.V274G; 5:181237676-181237676

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.327G>C; p.L109L; 5:181241594-181241594

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.435G>A; p.E145E; 5:181239577-181239577

 breastcarcinomaSubstitution - coding silent

c.281C>T; p.T94M; 5:181242174-181242174

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.438C>A; p.S146R; 5:181239574-181239574

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.635A>G; p.K212R; 5:181239068-181239068

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.425T>C; p.V142A; 5:181241496-181241496

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.425T>C; p.V142A; 5:181241496-181241496

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.774C>A; p.I258I; 5:181238102-181238102

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.735C>G; p.R245R; 5:181238141-181238141

 breastcarcinomaSubstitution - coding silent

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