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

Basic Information

Gene ID

8742

Name

TNFSF12

Synonymous

tumor necrosis factor (ligand) superfamily, member 12;TNFSF12;tumor necrosis factor (ligand) superfamily, member 12

Definition

APO3 ligand|APO3/DR3 ligand|TNF-related WEAK inducer of apoptosis|tumor necrosis factor ligand superfamily member 12

Position

17p13

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 0.06.

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.268C>T; p.R90W; 17:7550180-7550180

 breastcarcinomaSubstitution - Missense

c.414C>G; p.I138M; 17:7556818-7556818

 breastcarcinomaSubstitution - Missense

c.269G>A; p.R90Q; 17:7550181-7550181

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.234C>A; p.S78R; 17:7550146-7550146

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.569G>C; p.R190P; 17:7557169-7557169

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.568C>T; p.R190C; 17:7557168-7557168

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.374-5T>C; p.?; 17:7556773-7556773

 ovaryother; neoplasmUnknown

c.392G>A; p.S131N; 17:7556796-7556796

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.720C>A; p.L240L; 17:7557320-7557320

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.674G>A; p.R225Q; 17:7557274-7557274

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.438C>T; p.Y146Y; 17:7556842-7556842

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.401A>G; p.E134G; 17:7556805-7556805

 breastcarcinomaSubstitution - Missense

c.707C>T; p.A236V; 17:7557307-7557307

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.425G>A; p.S142N; 17:7556829-7556829

 skinmalignant_melanomaSubstitution - Missense

c.289A>T; p.K97*; 17:7550804-7550804

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.743T>C; p.V248A; 17:7557343-7557343

 prostatecarcinomaSubstitution - Missense

c.347G>A; p.R116Q; 17:7550952-7550952

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.219C>T; p.P73P; 17:7550131-7550131

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.488T>C; p.L163P; 17:7556892-7556892

 large_intestine; coloncarcinomaSubstitution - Missense

c.640G>A; p.G214S; 17:7557240-7557240

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.730G>A; p.G244R; 17:7557330-7557330

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.516G>A; p.G172G; 17:7557116-7557116

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.600G>C; p.A200A; 17:7557200-7557200

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.600G>C; p.A200A; 17:7557200-7557200

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.600G>C; p.A200A; 17:7557200-7557200

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.600G>C; p.A200A; 17:7557200-7557200

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.600G>C; p.A200A; 17:7557200-7557200

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.600G>C; p.A200A; 17:7557200-7557200

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.600G>C; p.A200A; 17:7557200-7557200

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.600G>C; p.A200A; 17:7557200-7557200

 thyroidother; neoplasmSubstitution - coding silent

c.569G>A; p.R190H; 17:7557169-7557169

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.623G>A; p.R208H; 17:7557223-7557223

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.697C>A; p.H233N; 17:7557297-7557297

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.514G>A; p.G172R; 17:7557114-7557114

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.276C>A; p.R92R; 17:7550188-7550188

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.276C>A; p.R92R; 17:7550188-7550188

 thyroidother; neoplasmSubstitution - coding silent

c.202C>G; p.P68A; 17:7549516-7549516

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

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