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

Basic Information

Gene ID

51330

Name

TNFRSF12A

Synonymous

tumor necrosis factor receptor superfamily, member 12A;TNFRSF12A;tumor necrosis factor receptor superfamily, member 12A

Definition

FGF-inducible 14|fibroblast growth factor-inducible immediate-early response protein 14|tumor necrosis factor receptor superfamily member 12A|tweak-receptor|type I transmembrane protein Fn14

Position

16p13.3

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

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 0.00.

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.48G>A; p.G16G; 16:3020445-3020445

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.301T>A; p.W101R; 16:3021656-3021656

pancreascarcinomaSubstitution - Missense

c.244C>T; p.L82F; 16:3021599-3021599

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.320G>A; p.R107K; 16:3021675-3021675

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.221_222CC>TT; p.P74L; 16:3021576-3021577

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.215C>A; p.P72H; 16:3021570-3021570

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.72C>A; p.S24S; 16:3020469-3020469

thyroidother; neoplasmSubstitution - coding silent

c.274C>T; p.L92L; 16:3021629-3021629

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.71C>T; p.S24F; 16:3020468-3020468

skinmalignant_melanomaSubstitution - Missense


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