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

Basic Information

Gene ID

10413

Name

YAP1

Synonymous

Yes-associated protein 1;YAP1;Yes-associated protein 1

Definition

65 kDa Yes-associated protein|protein yorkie homolog|transcriptional coactivator YAP1|yes-associated protein 2|yes-associated protein YAP65 homolog|yorkie homolog

Position

11q13

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.1238G>C; p.G413A; 11:102229825-102229825

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1237G>T; p.G413*; 11:102229824-102229824

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Nonsense

c.706A>G; p.S236G; 11:102205910-102205910

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1339C>T; p.L447F; 11:102229926-102229926

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.460A>G; p.T154A; 11:102114282-102114282

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1245G>A; p.E415E; 11:102229832-102229832

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.377A>G; p.H126R; 11:102114199-102114199

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1030A>G; p.T344A; 11:102227497-102227497

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.680C>T; p.S227L; 11:102162563-102162563

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.313T>C; p.S105P; 11:102111161-102111161

 haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.964A>C; p.T322P; 11:102223715-102223715

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1069C>T; p.R357*; 11:102227536-102227536

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.971C>T; p.T324M; 11:102223722-102223722

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.907C>T; p.Q303*; 11:102223658-102223658

 pancreascarcinomaSubstitution - Nonsense

c.675G>A; p.M225I; 11:102162558-102162558

 central_nervous_system; medullaprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.597G>A; p.W199*; 11:102162480-102162480

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.579C>T; p.I193I; 11:102162462-102162462

 skinmalignant_melanomaSubstitution - coding silent

c.867G>T; p.R289R; 11:102206071-102206071

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.505G>A; p.D169N; 11:102114327-102114327

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.505G>A; p.D169N; 11:102114327-102114327

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1246C>A; p.L416M; 11:102229833-102229833

 pancreascarcinomaSubstitution - Missense

c.1252C>T; p.P418S; 11:102229839-102229839

 breastcarcinomaSubstitution - Missense

c.1348T>A; p.L450I; 11:102229935-102229935

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.783C>T; p.N261N; 11:102205987-102205987

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1024G>A; p.E342K; 11:102227491-102227491

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1024G>A; p.E342K; 11:102227491-102227491

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1070G>A; p.R357Q; 11:102227537-102227537

 skin; acralmalignant_melanomaSubstitution - Missense

c.1248G>A; p.L416L; 11:102229835-102229835

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.363G>A; p.Q121Q; 11:102114185-102114185

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.964A>G; p.T322A; 11:102223715-102223715

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.1248G>C; p.L416L; 11:102229835-102229835

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.363G>T; p.Q121H; 11:102114185-102114185

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.371G>A; p.R124Q; 11:102114193-102114193

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1026G>C; p.E342D; 11:102227493-102227493

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1315A>G; p.T439A; 11:102229902-102229902

 kidneyother; neoplasmSubstitution - Missense

c.1171C>A; p.L391I; 11:102229758-102229758

 kidneyother; neoplasmSubstitution - Missense

c.1019G>A; p.R340Q; 11:102227486-102227486

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.413C>T; p.S138F; 11:102114235-102114235

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.479T>A; p.L160H; 11:102114301-102114301

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.723G>A; p.V241V; 11:102205927-102205927

 breastcarcinomaSubstitution - coding silent

c.485A>G; p.Q162R; 11:102114307-102114307

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.723G>A; p.V241V; 11:102205927-102205927

 breastcarcinomaSubstitution - coding silent

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