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

Basic Information

Gene ID

8554

Name

PIAS1

Synonymous

protein inhibitor of activated STAT, 1;PIAS1;protein inhibitor of activated STAT, 1

Definition

AR interacting protein|DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1|DEAD/H box-binding protein 1|E3 SUMO-protein ligase PIAS1|RNA helicase II-binding protein|gu-binding protein|protein inhibitor of activated STAT protein 1|protein inhibitor of activ

Position

15q

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 0.08.

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.571A>G; p.K191E; 15:68142306-68142306

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.298G>T; p.D100Y; 15:68086579-68086579

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.893G>A; p.R298Q; 15:68153654-68153654

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.864G>A; p.L288L; 15:68153625-68153625

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.256C>A; p.P86T; 15:68086537-68086537

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1615G>A; p.D539N; 15:68181345-68181345

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.79G>A; p.G27R; 15:68086360-68086360

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.79G>A; p.G27R; 15:68086360-68086360

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.8A>G; p.D3G; 15:68054334-68054334

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.867C>T; p.S289S; 15:68153628-68153628

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1766T>G; p.F589C; 15:68187645-68187645

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.880C>T; p.L294F; 15:68153641-68153641

 skinmalignant_melanomaSubstitution - Missense

c.207C>T; p.I69I; 15:68086488-68086488

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.79delG; p.R28fs*18; 15:68086360-68086360

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.76G>T; p.A26S; 15:68086357-68086357

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1040G>A; p.R347Q; 15:68173763-68173763

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.213G>A; p.T71T; 15:68086494-68086494

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.402G>A; p.P134P; 15:68086683-68086683

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1057C>T; p.H353Y; 15:68173780-68173780

 breastcarcinomaSubstitution - Missense

c.742C>T; p.R248*; 15:68146614-68146614

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1330G>T; p.V444L; 15:68176503-68176503

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1330G>T; p.V444L; 15:68176503-68176503

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.602G>A; p.R201K; 15:68142337-68142337

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1253C>T; p.S418L; 15:68175720-68175720

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1263A>T; p.E421D; 15:68175730-68175730

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1041G>T; p.R347R; 15:68173764-68173764

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.603-2A>T; p.?; 15:68145814-68145814

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.890T>C; p.L297S; 15:68153651-68153651

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1687G>T; p.A563S; 15:68187566-68187566

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.699C>G; p.Y233*; 15:68146571-68146571

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1159A>G; p.I387V; 15:68173882-68173882

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.795G>A; p.T265T; 15:68146667-68146667

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.721G>T; p.V241L; 15:68146593-68146593

 breastcarcinomaSubstitution - Missense

c.721G>T; p.V241L; 15:68146593-68146593

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.477C>T; p.D159D; 15:68141953-68141953

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.477C>T; p.D159D; 15:68141953-68141953

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.477C>T; p.D159D; 15:68141953-68141953

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1782T>C; p.S594S; 15:68187661-68187661

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.596A>C; p.Q199P; 15:68142331-68142331

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.397C>T; p.H133Y; 15:68086678-68086678

 skinmalignant_melanomaSubstitution - Missense

c.1557T>G; p.I519M; 15:68181287-68181287

 breastcarcinomaSubstitution - Missense

c.1411G>T; p.E471*; 15:68176584-68176584

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1293A>G; p.G431G; 15:68175760-68175760

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1293A>G; p.G431G; 15:68175760-68175760

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.98G>A; p.R33H; 15:68086379-68086379

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.479A>G; p.N160S; 15:68141955-68141955

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1052G>A; p.C351Y; 15:68173775-68173775

 pancreascarcinomaSubstitution - Missense

c.836C>T; p.S279F; 15:68153597-68153597

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.819A>T; p.E273D; 15:68146691-68146691

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.394G>T; p.V132F; 15:68086675-68086675

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1625-1G>A; p.?; 15:68183629-68183629

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.758C>T; p.T253I; 15:68146630-68146630

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1511C>T; p.P504L; 15:68181241-68181241

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1743C>A; p.F581L; 15:68187622-68187622

 breastcarcinomaSubstitution - Missense

c.1480G>A; p.G494S; 15:68176653-68176653

 skinmalignant_melanomaSubstitution - Missense

c.590A>G; p.Q197R; 15:68142325-68142325

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1130G>T; p.C377F; 15:68173853-68173853

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.314C>A; p.S105*; 15:68086595-68086595

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1074C>T; p.D358D; 15:68173797-68173797

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.388C>A; p.H130N; 15:68086669-68086669

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.220G>A; p.D74N; 15:68086501-68086501

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.646C>T; p.P216S; 15:68145859-68145859

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.720C>T; p.G240G; 15:68146592-68146592

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.83G>A; p.R28K; 15:68086364-68086364

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1471A>C; p.N491H; 15:68176644-68176644

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.734G>T; p.R245L; 15:68146606-68146606

 breastcarcinomaSubstitution - Missense

c.734G>T; p.R245L; 15:68146606-68146606

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.666A>G; p.K222K; 15:68145879-68145879

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1729T>C; p.S577P; 15:68187608-68187608

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.97C>T; p.R33C; 15:68086378-68086378

 livercarcinomaSubstitution - Missense

c.1685C>T; p.A562V; 15:68187564-68187564

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1289A>G; p.N430S; 15:68175756-68175756

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.461C>T; p.T154I; 15:68086742-68086742

 skinmalignant_melanomaSubstitution - Missense

c.461C>T; p.T154I; 15:68086742-68086742

 skinmalignant_melanomaSubstitution - Missense

c.964A>G; p.S322G; 15:68164760-68164760

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

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