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

Basic Information

Gene ID

445

Name

ASS1

Synonymous

argininosuccinate synthase 1;ASS1;argininosuccinate synthase 1

Definition

argininosuccinate synthase|argininosuccinate synthetase 1|citrulline--aspartate ligase|citrulline-aspartate ligase

Position

9q34.1

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 0.04.

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.1074G>A; p.V358V; 9:130494970-130494970

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.88G>A; p.D30N; 9:130452316-130452316

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.979C>T; p.H327Y; 9:130494875-130494875

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.676G>A; p.E226K; 9:130476949-130476949

 skinmalignant_melanomaSubstitution - Missense

c.861C>A; p.G287G; 9:130489355-130489355

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.861C>A; p.G287G; 9:130489355-130489355

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.457C>T; p.R153W; 9:130466761-130466761

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.804C>T; p.I268I; 9:130480415-130480415

 skinmalignant_melanomaSubstitution - coding silent

c.629C>T; p.T210I; 9:130476902-130476902

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.704T>C; p.V235A; 9:130479731-130479731

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.253G>T; p.D85Y; 9:130458479-130458479

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.321G>A; p.Q107Q; 9:130458547-130458547

 skinmalignant_melanomaSubstitution - coding silent

c.39C>T; p.G13G; 9:130452267-130452267

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.566+1G>A; p.?; 9:130470905-130470905

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1008C>T; p.H336H; 9:130494904-130494904

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.132C>T; p.F44F; 9:130454331-130454331

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.945G>C; p.L315F; 9:130489439-130489439

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.682A>T; p.K228*; 9:130476955-130476955

 thyroidother; neoplasmSubstitution - Nonsense

c.1027G>A; p.E343K; 9:130494923-130494923

 skinmalignant_melanomaSubstitution - Missense

c.846C>T; p.Y282Y; 9:130489340-130489340

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.722G>A; p.G241D; 9:130479749-130479749

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1022C>T; p.S341F; 9:130494918-130494918

 skinmalignant_melanomaSubstitution - Missense

c.558G>A; p.M186I; 9:130470896-130470896

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.379C>T; p.R127W; 9:130464126-130464126

 skinmalignant_melanomaSubstitution - Missense

c.919C>T; p.R307C; 9:130489413-130489413

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.258C>A; p.R86R; 9:130458484-130458484

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1235A>C; p.K412T; 9:130501017-130501017

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.978G>A; p.W326*; 9:130494874-130494874

 skinmalignant_melanomaSubstitution - Nonsense

c.1062C>G; p.L354L; 9:130494958-130494958

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.718G>A; p.D240N; 9:130479745-130479745

 skinmalignant_melanomaSubstitution - Missense

c.814C>T; p.R272C; 9:130480425-130480425

 central_nervous_system; brainglioma; astrocytoma_Grade_IIISubstitution - Missense

c.1141G>A; p.G381S; 9:130499518-130499518

 skin; upper_legmalignant_melanomaSubstitution - Missense

c.1035G>A; p.V345V; 9:130494931-130494931

 skinmalignant_melanomaSubstitution - coding silent

c.836G>C; p.R279P; 9:130480447-130480447

 breastcarcinomaSubstitution - Missense

c.775G>A; p.G259S; 9:130480386-130480386

 skinmalignant_melanomaSubstitution - Missense

c.775G>A; p.G259S; 9:130480386-130480386

 skinmalignant_melanomaSubstitution - Missense

c.583C>T; p.L195L; 9:130471501-130471501

 skinmalignant_melanomaSubstitution - coding silent

c.1003C>T; p.R335C; 9:130494899-130494899

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.501C>T; p.H167H; 9:130470839-130470839

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.331G>A; p.A111T; 9:130458557-130458557

 skinmalignant_melanomaSubstitution - Missense

c.658C>T; p.P220S; 9:130476931-130476931

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.824G>A; p.G275E; 9:130480435-130480435

 skinmalignant_melanomaSubstitution - Missense

c.437G>A; p.R146K; 9:130466741-130466741

 skinmalignant_melanomaSubstitution - Missense

c.1088G>A; p.R363Q; 9:130494984-130494984

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.856G>A; p.A286T; 9:130489350-130489350

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.786C>T; p.G262G; 9:130480397-130480397

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.65T>G; p.V22G; 9:130452293-130452293

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.190G>T; p.V64F; 9:130458416-130458416

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.605C>T; p.A202V; 9:130476878-130476878

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.717G>T; p.K239N; 9:130479744-130479744

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.941G>A; p.G314D; 9:130489435-130489435

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.624G>A; p.T208T; 9:130476897-130476897

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.17C>T; p.S6F; 9:130452245-130452245

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.571G>A; p.E191K; 9:130471489-130471489

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.310G>A; p.E104K; 9:130458536-130458536

 skinmalignant_melanomaSubstitution - Missense

c.470G>A; p.R157H; 9:130466774-130466774

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.416T>C; p.I139T; 9:130464163-130464163

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.963G>A; p.V321V; 9:130489457-130489457

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.198G>A; p.R66R; 9:130458424-130458424

 skinmalignant_melanomaSubstitution - coding silent

c.345C>T; p.S115S; 9:130458571-130458571

 skinmalignant_melanomaSubstitution - coding silent

c.582_583CC>TT; p.(=); 9:130471500-130471501

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.613G>A; p.G205S; 9:130476886-130476886

 skinmalignant_melanomaSubstitution - Missense

c.234G>A; p.Q78Q; 9:130458460-130458460

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.597+8C>T; p.?; 9:130471523-130471523

 livercarcinoma; hepatocellular_carcinomaUnknown

c.534G>A; p.P178P; 9:130470872-130470872

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.374A>G; p.Q125R; 9:130464121-130464121

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.352G>A; p.A118T; 9:130458578-130458578

 livercarcinomaSubstitution - Missense

c.352G>A; p.A118T; 9:130458578-130458578

 livercarcinomaSubstitution - Missense

c.352G>A; p.A118T; 9:130458578-130458578

 livercarcinomaSubstitution - Missense

c.352G>A; p.A118T; 9:130458578-130458578

 livercarcinomaSubstitution - Missense

c.843C>G; p.I281M; 9:130489337-130489337

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.349G>A; p.G117S; 9:130458575-130458575

 central_nervous_system; braingliomaSubstitution - Missense

c.955G>T; p.E319*; 9:130489449-130489449

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

c.965A>G; p.Y322C; 9:130489459-130489459

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.489C>T; p.Y163Y; 9:130466793-130466793

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.891C>T; p.I297I; 9:130489385-130489385

 skinmalignant_melanomaSubstitution - coding silent

c.670G>A; p.E224K; 9:130476943-130476943

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.772G>A; p.A258T; 9:130479799-130479799

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1057G>A; p.V353I; 9:130494953-130494953

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.322C>T; p.R108W; 9:130458548-130458548

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.920G>A; p.R307H; 9:130489414-130489414

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.920G>A; p.R307H; 9:130489414-130489414

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1016C>A; p.A339D; 9:130494912-130494912

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1227C>A; p.V409V; 9:130501009-130501009

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.175-5C>G; p.?; 9:130458396-130458396

 ovaryother; neoplasmUnknown

c.794G>A; p.R265H; 9:130480405-130480405

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.440T>C; p.M147T; 9:130466744-130466744

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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