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

Basic Information

Gene ID

9255

Name

AIMP1

Synonymous

aminoacyl tRNA synthetase complex-interacting multifunctional protein 1;AIMP1;aminoacyl tRNA synthetase complex-interacting multifunctional protein 1

Definition

ARS-interacting multifunctional protein 1|aminoacyl tRNA synthase complex-interacting multifunctional protein 1|endothelial monocyte-activating polypeptide 2|endothelial-monocyte activating polypeptide II|multisynthase complex auxiliary component p43|mult

Position

4q24

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 0.22.

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.266A>G; p.N89S; 4:106328118-106328118

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.656G>A; p.R219K; 4:106336921-106336921

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.461G>A; p.R154H; 4:106331741-106331741

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.223G>T; p.V75L; 4:106327564-106327564

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.114G>A; p.L38L; 4:106327455-106327455

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.505C>A; p.P169T; 4:106331785-106331785

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.707T>G; p.I236S; 4:106336972-106336972

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.406delA; p.K137fs*5; 4:106331686-106331686

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.4G>A; p.A2T; 4:106325013-106325013

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.235C>G; p.P79A; 4:106328087-106328087

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.17C>T; p.A6V; 4:106325026-106325026

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.543C>T; p.V181V; 4:106331823-106331823

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.512C>T; p.A171V; 4:106331792-106331792

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.590T>C; p.V197A; 4:106331870-106331870

 skinmalignant_melanomaSubstitution - Missense

c.52G>A; p.A18T; 4:106325061-106325061

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.817C>A; p.Q273K; 4:106347570-106347570

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.24G>C; p.L8L; 4:106325033-106325033

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.370delA; p.E125fs*17; 4:106328222-106328222

 breastcarcinomaDeletion - Frameshift

c.15T>C; p.D5D; 4:106325024-106325024

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.497G>A; p.R166K; 4:106331777-106331777

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.271A>G; p.M91V; 4:106328123-106328123

 breastcarcinomaSubstitution - Missense

c.511G>A; p.A171T; 4:106331791-106331791

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.146G>A; p.R49Q; 4:106327487-106327487

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.885G>A; p.V295V; 4:106347638-106347638

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.889G>A; p.G297R; 4:106347642-106347642

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.288G>A; p.V96V; 4:106328140-106328140

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.835C>A; p.H279N; 4:106347588-106347588

 pancreascarcinomaSubstitution - Missense

c.739C>T; p.P247S; 4:106337004-106337004

 skinmalignant_melanomaSubstitution - Missense

c.405_406insA; p.Q138fs*11; 4:106331685-106331686

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.825G>T; p.Q275H; 4:106347578-106347578

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.269C>A; p.S90Y; 4:106328121-106328121

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.269C>A; p.S90Y; 4:106328121-106328121

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.145C>T; p.R49*; 4:106327486-106327486

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.145C>T; p.R49*; 4:106327486-106327486

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.367G>A; p.A123T; 4:106328219-106328219

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.106G>T; p.A36S; 4:106325115-106325115

 oesophaguscarcinomaSubstitution - Missense

c.178G>T; p.E60*; 4:106327519-106327519

 oesophaguscarcinomaSubstitution - Nonsense

c.363G>T; p.K121N; 4:106328215-106328215

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.391G>C; p.G131R; 4:106328243-106328243

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.427G>C; p.G143R; 4:106331707-106331707

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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