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

Basic Information

Gene ID

8772

Name

FADD

Synonymous

Fas (TNFRSF6)-associated via death domain;FADD;Fas (TNFRSF6)-associated via death domain

Definition

FAS-associated death domain protein|Fas-associating death domain-containing protein|Fas-associating protein with death domain|growth-inhibiting gene 3 protein|mediator of receptor induced toxicity|mediator of receptor-induced toxicity

Position

11q13.3

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 0.18.

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.474G>T; p.V158V; 11:70206320-70206320

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.172G>T; p.G58W; 11:70203631-70203631

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.101G>A; p.R34H; 11:70203560-70203560

 stomachadenocarcinomaSubstitution - Missense

c.401C>T; p.P134L; 11:70206247-70206247

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.410T>A; p.L137Q; 11:70206256-70206256

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.55G>A; p.E19K; 11:70203514-70203514

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.466G>A; p.A156T; 11:70206312-70206312

 livercarcinomaSubstitution - Missense

c.466G>A; p.A156T; 11:70206312-70206312

 livercarcinomaSubstitution - Missense

c.377T>A; p.I126N; 11:70206223-70206223

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.342G>C; p.R114S; 11:70206188-70206188

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.331G>C; p.D111H; 11:70206177-70206177

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.331G>C; p.D111H; 11:70206177-70206177

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.289C>T; p.L97L; 11:70206135-70206135

 pancreascarcinomaSubstitution - coding silent

c.375G>T; p.K125N; 11:70206221-70206221

 pancreasNSSubstitution - Missense

c.621G>A; p.A207A; 11:70206467-70206467

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.427G>T; p.E143*; 11:70206273-70206273

 haematopoietic_and_lymphoid_tissue; spleenlymphoid_neoplasm; marginal_zone_lymphomaSubstitution - Nonsense

c.48G>A; p.S16S; 11:70203507-70203507

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.186C>T; p.L62L; 11:70203645-70203645

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.581C>T; p.S194F; 11:70206427-70206427

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.378C>T; p.I126I; 11:70206224-70206224

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.449_450delAC; p.T151fs*24; 11:70206295-70206296

 oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.252delG; p.A86fs*52; 11:70203711-70203711

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.81C>A; p.C27*; 11:70203540-70203540

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

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