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

Basic Information

Gene ID

9521

Name

EEF1E1

Synonymous

eukaryotic translation elongation factor 1 epsilon 1;EEF1E1;eukaryotic translation elongation factor 1 epsilon 1

Definition

ARS-interacting multifunctional protein 3|aminoacyl tRNA synthetase complex-interacting multifunctional protein 3|eukaryotic translation elongation factor 1 epsilon-1|multisynthase complex auxiliary component p18|p18 component of aminoacyl-tRNA synthetase

Position

6p24.3

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 0.00.

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.210C>T; p.I70I; 6:8097345-8097345

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.210C>T; p.I70I; 6:8097345-8097345

skinmalignant_melanomaSubstitution - coding silent

c.242A>T; p.Q81L; 6:8097313-8097313

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.266A>G; p.N89S; 6:8097289-8097289

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.330G>A; p.G110G; 6:8090240-8090240

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - coding silent

c.426G>T; p.V142V; 6:8079989-8079989

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.426G>T; p.V142V; 6:8079989-8079989

livercarcinomaSubstitution - coding silent

c.426G>T; p.V142V; 6:8079989-8079989

livercarcinomaSubstitution - coding silent

c.62A>C; p.K21T; 6:8102460-8102460

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.106A>G; p.N36D; 6:8097449-8097449

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.320A>G; p.Y107C; 6:8090250-8090250

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.263A>G; p.K88R; 6:8097292-8097292

skinmalignant_melanomaSubstitution - Missense

c.119G>T; p.S40I; 6:8097436-8097436

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.220T>C; p.W74R; 6:8097335-8097335

large_intestine; coloncarcinomaSubstitution - Missense

c.220T>C; p.W74R; 6:8097335-8097335

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.128G>A; p.G43E; 6:8097427-8097427

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.304C>A; p.L102I; 6:8090266-8090266

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.458C>T; p.P153L; 6:8079957-8079957

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.374A>T; p.H125L; 6:8090196-8090196

eye; uveal_tractmalignant_melanoma; spindleSubstitution - Missense

c.252G>A; p.G84G; 6:8097303-8097303

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.184G>T; p.G62W; 6:8097371-8097371

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.191C>T; p.T64I; 6:8097364-8097364

prostatecarcinoma; adenocarcinomaSubstitution - Missense


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