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

Basic Information

Gene ID

51741

Name

WWOX

Synonymous

WW domain containing oxidoreductase;WWOX;WW domain containing oxidoreductase

Definition

WW domain-containing oxidoreductase|WW domain-containing protein WWOX|fragile site FRA16D oxidoreductase|short chain dehydrogenase/reductase family 41C member 1|short chain dehydrogenase/reductase family 41C, member 1

Position

16q23

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 0.15.

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.452T>C; p.V151A; 16:78164225-78164225

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.211G>A; p.G71R; 16:78109816-78109816

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.448C>G; p.H150D; 16:78164221-78164221

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.537G>A; p.P179P; 16:78278623-78278623

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.415G>A; p.E139K; 16:78164188-78164188

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.511G>T; p.E171*; 16:78164284-78164284

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.451G>C; p.V151L; 16:78164224-78164224

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.160C>T; p.R54*; 16:78108475-78108475

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.119A>T; p.E40V; 16:78108434-78108434

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.374A>G; p.K125R; 16:78115119-78115119

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.517-3C>A; p.?; 16:78278600-78278600

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IIUnknown

c.410G>T; p.G137V; 16:78164183-78164183

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.544A>G; p.K182E; 16:78278630-78278630

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.556A>C; p.K186Q; 16:78278642-78278642

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.177G>A; p.L59L; 16:78109782-78109782

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.500G>A; p.R167H; 16:78164273-78164273

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.500G>A; p.R167H; 16:78164273-78164273

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.500G>A; p.R167H; 16:78164273-78164273

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.517-1G>A; p.?; 16:78278602-78278602

 endometriumcarcinoma; serous_carcinomaUnknown

c.479G>T; p.R160M; 16:78164252-78164252

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.411G>A; p.G137G; 16:78164184-78164184

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.414C>T; p.F138F; 16:78164187-78164187

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.482C>T; p.A161V; 16:78164255-78164255

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.425A>T; p.K142M; 16:78164198-78164198

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.454A>T; p.I152F; 16:78164227-78164227

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

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