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

Basic Information

Gene ID

7965

Name

AIMP2

Synonymous

aminoacyl tRNA synthetase complex-interacting multifunctional protein 2;AIMP2;aminoacyl tRNA synthetase complex-interacting multifunctional protein 2

Definition

ARS-interacting multi-functional protein 2|aminoacyl tRNA synthase complex-interacting multifunctional protein 2|multisynthase complex auxiliary component p38|multisynthetase complex auxiliary component p38|protein JTV-1

Position

7p22

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 0.07.

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.648C>A; p.F216L; 7:6023376-6023376

 skinmalignant_melanomaSubstitution - Missense

c.193C>T; p.R65C; 7:6015203-6015203

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.376G>A; p.A126T; 7:6017847-6017847

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.383C>T; p.P128L; 7:6017854-6017854

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.643C>T; p.R215C; 7:6023371-6023371

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.46C>G; p.L16V; 7:6009409-6009409

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.790G>A; p.G264R; 7:6023518-6023518

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.22C>A; p.P8T; 7:6009385-6009385

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.826G>A; p.V276I; 7:6023554-6023554

 prostatecarcinomaSubstitution - Missense

c.683T>G; p.V228G; 7:6023411-6023411

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.235A>G; p.M79V; 7:6015245-6015245

 livercarcinomaSubstitution - Missense

c.235A>G; p.M79V; 7:6015245-6015245

 livercarcinomaSubstitution - Missense

c.294C>A; p.P98P; 7:6015304-6015304

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.633G>A; p.G211G; 7:6023361-6023361

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - coding silent

c.467C>T; p.S156F; 7:6017938-6017938

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.461C>T; p.T154M; 7:6017932-6017932

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.207G>C; p.L69F; 7:6015217-6015217

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.69C>T; p.C23C; 7:6009432-6009432

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.308C>T; p.T103I; 7:6015318-6015318

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.7A>G; p.M3V; 7:6009370-6009370

 large_intestine; coloncarcinomaSubstitution - Missense

c.140A>G; p.E47G; 7:6015150-6015150

 livercarcinomaSubstitution - Missense

c.365T>C; p.I122T; 7:6017836-6017836

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.473T>G; p.V158G; 7:6017944-6017944

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.457C>T; p.H153Y; 7:6017928-6017928

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.194G>A; p.R65H; 7:6015204-6015204

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.194G>A; p.R65H; 7:6015204-6015204

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.173G>T; p.R58L; 7:6015183-6015183

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.366C>T; p.I122I; 7:6017837-6017837

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.814A>G; p.N272D; 7:6023542-6023542

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.808G>A; p.A270T; 7:6023536-6023536

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.170C>T; p.S57F; 7:6015180-6015180

 breastcarcinomaSubstitution - Missense

c.924C>T; p.N308N; 7:6023652-6023652

 thyroidother; neoplasmSubstitution - coding silent

c.950A>C; p.K317T; 7:6023678-6023678

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.543T>G; p.Y181*; 7:6018014-6018014

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.543T>G; p.Y181*; 7:6018014-6018014

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.852A>G; p.V284V; 7:6023580-6023580

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.891C>T; p.A297A; 7:6023619-6023619

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.324G>C; p.L108F; 7:6015334-6015334

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.687C>T; p.N229N; 7:6023415-6023415

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.361G>A; p.D121N; 7:6017832-6017832

 skin; trunkmalignant_melanomaSubstitution - Missense

c.700G>T; p.D234Y; 7:6023428-6023428

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.919G>A; p.E307K; 7:6023647-6023647

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.756A>C; p.K252N; 7:6023484-6023484

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.765T>A; p.V255V; 7:6023493-6023493

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.791G>T; p.G264V; 7:6023519-6023519

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.863T>G; p.I288S; 7:6023591-6023591

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.230C>T; p.S77F; 7:6015240-6015240

 skinmalignant_melanomaSubstitution - Missense

c.537A>C; p.Q179H; 7:6018008-6018008

 livercarcinomaSubstitution - Missense

c.537A>C; p.Q179H; 7:6018008-6018008

 livercarcinomaSubstitution - Missense

c.284C>T; p.A95V; 7:6015294-6015294

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.470C>T; p.S157L; 7:6017941-6017941

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.941C>T; p.T314M; 7:6023669-6023669

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.575-8C>T; p.?; 7:6023295-6023295

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.49C>T; p.R17C; 7:6009412-6009412

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.535C>G; p.Q179E; 7:6018006-6018006

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.384G>T; p.P128P; 7:6017855-6017855

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.185T>G; p.I62S; 7:6015195-6015195

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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