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

Basic Information

Gene ID

383

Name

ARG1

Synonymous

arginase 1;ARG1;arginase 1

Definition

arginase, liver|arginase-1|liver-type arginase|type I arginase

Position

6q23

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 0.03.

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.270C>T; p.N90N; 6:131579250-131579250

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.270C>T; p.N90N; 6:131579250-131579250

 breastcarcinomaSubstitution - coding silent

c.620G>A; p.G207E; 6:131583119-131583119

 skin; legmalignant_melanomaSubstitution - Missense

c.892G>T; p.A298S; 6:131583831-131583831

 kidneycarcinoma; renal_cell_carcinomaSubstitution - Missense

c.646C>A; p.L216I; 6:131583145-131583145

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.669G>A; p.K223K; 6:131583358-131583358

 skinmalignant_melanomaSubstitution - coding silent

c.875C>T; p.T292I; 6:131583814-131583814

 skinmalignant_melanomaSubstitution - Missense

c.50A>C; p.K17T; 6:131573332-131573332

 livercarcinomaSubstitution - Missense

c.26G>A; p.G9E; 6:131573308-131573308

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.451G>A; p.E151K; 6:131581364-131581364

 skinmalignant_melanomaSubstitution - Missense

c.212G>T; p.R71M; 6:131579192-131579192

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.709G>A; p.D237N; 6:131583398-131583398

 NSmalignant_melanomaSubstitution - Missense

c.306-4A>G; p.?; 6:131581215-131581215

 central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.7G>A; p.A3T; 6:131573289-131573289

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.7G>A; p.A3T; 6:131573289-131573289

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.7G>A; p.A3T; 6:131573289-131573289

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.769G>A; p.G257S; 6:131583458-131583458

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.486C>G; p.F162L; 6:131582641-131582641

 breastcarcinomaSubstitution - Missense

c.215C>A; p.S72Y; 6:131579195-131579195

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.630G>A; p.K210K; 6:131583129-131583129

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.465+1G>T; p.?; 6:131581379-131581379

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.73G>A; p.E25K; 6:131576678-131576678

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.73G>A; p.E25K; 6:131576678-131576678

 pancreascarcinomaSubstitution - Missense

c.47C>G; p.S16*; 6:131573329-131573329

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.45C>A; p.F15L; 6:131573327-131573327

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.45C>A; p.F15L; 6:131573327-131573327

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.330C>T; p.G110G; 6:131581243-131581243

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.231C>T; p.S77S; 6:131579211-131579211

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.612C>A; p.D204E; 6:131583111-131583111

 livercarcinomaSubstitution - Missense

c.612C>A; p.D204E; 6:131583111-131583111

 livercarcinomaSubstitution - Missense

c.603T>C; p.T201T; 6:131583102-131583102

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.431C>T; p.P144L; 6:131581344-131581344

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.533G>A; p.G178D; 6:131582688-131582688

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.283C>A; p.L95M; 6:131579263-131579263

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.124G>T; p.E42*; 6:131576729-131576729

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.57G>A; p.Q19Q; 6:131573339-131573339

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.340G>A; p.V114I; 6:131581253-131581253

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.446T>A; p.L149Q; 6:131581359-131581359

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.335C>T; p.A112V; 6:131581248-131581248

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.134G>A; p.C45Y; 6:131579114-131579114

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.751G>A; p.G251S; 6:131583440-131583440

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.905C>T; p.A302V; 6:131583844-131583844

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.295G>A; p.G99R; 6:131579275-131579275

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.609G>A; p.V203V; 6:131583108-131583108

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.849G>A; p.G283G; 6:131583788-131583788

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.685C>A; p.L229I; 6:131583374-131583374

 breastcarcinomaSubstitution - Missense

c.271G>A; p.G91R; 6:131579251-131579251

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.360C>A; p.V120V; 6:131581273-131581273

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.360C>A; p.V120V; 6:131581273-131581273

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.58C>T; p.P20S; 6:131576663-131576663

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.251T>A; p.V84E; 6:131579231-131579231

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.913G>A; p.G305R; 6:131583852-131583852

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.32T>C; p.I11T; 6:131573314-131573314

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.62G>A; p.R21Q; 6:131576667-131576667

 breastcarcinomaSubstitution - Missense

c.12G>A; p.K4K; 6:131573294-131573294

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.497C>T; p.T166I; 6:131582652-131582652

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.632T>G; p.V211G; 6:131583131-131583131

 breastcarcinomaSubstitution - Missense

c.70G>T; p.V24L; 6:131576675-131576675

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.774C>G; p.L258L; 6:131583463-131583463

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.774C>G; p.L258L; 6:131583463-131583463

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.70G>T; p.V24L; 6:131576675-131576675

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.703G>A; p.G235R; 6:131583392-131583392

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.949T>G; p.Y317D; 6:131583888-131583888

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.475G>A; p.V159M; 6:131582630-131582630

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.425G>A; p.G142E; 6:131581338-131581338

 skinmalignant_melanomaSubstitution - Missense

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