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

Basic Information

Gene ID

58189

Name

WFDC1

Synonymous

WAP four-disulfide core domain 1;WFDC1;WAP four-disulfide core domain 1

Definition

WAP four-disulfide core domain 1 homolog|WAP four-disulfide core domain protein 1|prostate stromal protein ps20|ps20 growth inhibitor

Position

16q24.3

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

Top

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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.12.

The copy number variations for various cancers

Top

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.499C>A; p.P167T; 16:84319508-84319508

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.63C>G; p.L21L; 16:84295034-84295034

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.428C>T; p.A143V; 16:84319437-84319437

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.508G>A; p.V170M; 16:84319517-84319517

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.350_351insGGG; p.L117_V118insG; 16:84318284-84318285

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaInsertion - In frame

c.385G>T; p.G129C; 16:84318319-84318319

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.569G>A; p.R190Q; 16:84324425-84324425

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.650A>G; p.K217R; 16:84326927-84326927

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.354G>A; p.V118V; 16:84318288-84318288

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.372G>T; p.W124C; 16:84318306-84318306

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.635G>A; p.G212E; 16:84326912-84326912

 skin; scalpmalignant_melanomaSubstitution - Missense

c.618G>A; p.K206K; 16:84326895-84326895

 skinmalignant_melanomaSubstitution - coding silent

c.481G>C; p.E161Q; 16:84319490-84319490

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.353T>G; p.V118G; 16:84318287-84318287

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.353T>G; p.V118G; 16:84318287-84318287

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.353T>G; p.V118G; 16:84318287-84318287

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.353T>G; p.V118G; 16:84318287-84318287

 thyroidother; neoplasmSubstitution - Missense

c.353T>G; p.V118G; 16:84318287-84318287

 livercarcinomaSubstitution - Missense

c.353T>G; p.V118G; 16:84318287-84318287

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.31T>G; p.C11G; 16:84295002-84295002

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.31T>G; p.C11G; 16:84295002-84295002

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.393C>T; p.L131L; 16:84318327-84318327

 skinmalignant_melanomaSubstitution - coding silent

c.56T>G; p.L19R; 16:84295027-84295027

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.56T>G; p.L19R; 16:84295027-84295027

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.473C>T; p.S158L; 16:84319482-84319482

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.540C>G; p.C180W; 16:84319549-84319549

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.24G>A; p.P8P; 16:84294995-84294995

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.73_75delCTC; p.L26delL; 16:84295044-84295046

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.73_75delCTC; p.L26delL; 16:84295044-84295046

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.479A>G; p.Y160C; 16:84319488-84319488

 livercarcinomaSubstitution - Missense

c.479A>G; p.Y160C; 16:84319488-84319488

 livercarcinomaSubstitution - Missense

c.445G>A; p.D149N; 16:84319454-84319454

 skinmalignant_melanomaSubstitution - Missense

c.648G>A; p.Q216Q; 16:84326925-84326925

 skinmalignant_melanomaSubstitution - coding silent

c.578G>A; p.R193Q; 16:84324434-84324434

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.540C>A; p.C180*; 16:84319549-84319549

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.469C>T; p.P157S; 16:84319478-84319478

 skinmalignant_melanomaSubstitution - Missense

c.530G>A; p.R177H; 16:84319539-84319539

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.69A>C; p.L23L; 16:84295040-84295040

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.352G>A; p.V118M; 16:84318286-84318286

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.451G>T; p.A151S; 16:84319460-84319460

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.79C>A; p.H27N; 16:84295050-84295050

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.412G>A; p.V138M; 16:84318346-84318346

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.112G>A; p.A38T; 16:84295083-84295083

 pancreascarcinomaSubstitution - Missense

c.412G>A; p.V138M; 16:84318346-84318346

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.566G>T; p.G189V; 16:84324422-84324422

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

')