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

Basic Information

Gene ID

1915

Name

EEF1A1

Synonymous

eukaryotic translation elongation factor 1 alpha 1;EEF1A1;eukaryotic translation elongation factor 1 alpha 1

Definition

CTCL tumor antigen|EF-1-alpha-1|EF1a-like protein|cervical cancer suppressor 3|elongation factor 1 alpha subunit|elongation factor 1-alpha 1|elongation factor Tu|eukaryotic elongation factor 1 A-1|eukaryotic translation elongation factor 1 alpha 1-like 14

Position

6q14.1

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 0.11.

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.1294A>G; p.T432A; 6:73517905-73517905

 livercarcinomaSubstitution - Missense

c.382_383delTC; p.S128fs*25; 6:73519170-73519171

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.1250A>G; p.D417G; 6:73518044-73518044

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.622-1G>A; p.?; 6:73518849-73518849

 pancreascarcinoma; ductal_carcinomaUnknown

c.1355C>A; p.T452N; 6:73517844-73517844

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.622-1G>A; p.?; 6:73518849-73518849

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Unknown

c.1295C>T; p.T432I; 6:73517904-73517904

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1295C>T; p.T432I; 6:73517904-73517904

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.620A>G; p.N207S; 6:73518933-73518933

 pancreascarcinomaSubstitution - Missense

c.778G>A; p.G260S; 6:73518605-73518605

 skinmalignant_melanomaSubstitution - Missense

c.788delC; p.P263fs*27; 6:73518595-73518595

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.830T>G; p.V277G; 6:73518553-73518553

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1075C>G; p.P359A; 6:73518219-73518219

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.134A>C; p.E45A; 6:73519893-73519893

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.369T>C; p.F123F; 6:73519184-73519184

 skinmalignant_melanomaSubstitution - coding silent

c.369T>C; p.F123F; 6:73519184-73519184

 skinmalignant_melanomaSubstitution - coding silent

c.1301C>T; p.A434V; 6:73517898-73517898

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.159C>T; p.S53S; 6:73519502-73519502

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1077T>G; p.P359P; 6:73518217-73518217

 breastcarcinomaSubstitution - coding silent

c.1077T>G; p.P359P; 6:73518217-73518217

 breastcarcinomaSubstitution - coding silent

c.1077T>G; p.P359P; 6:73518217-73518217

 breastcarcinomaSubstitution - coding silent

c.719G>A; p.R240H; 6:73518751-73518751

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.719G>A; p.R240H; 6:73518751-73518751

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.719G>A; p.R240H; 6:73518751-73518751

 skin; trunkmalignant_melanomaSubstitution - Missense

c.1141C>T; p.R381C; 6:73518153-73518153

 soft_tissue; fibrous_tissue_and_uncertain_osynovial_sarcomaSubstitution - Missense

c.202G>C; p.E68Q; 6:73519459-73519459

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.670A>G; p.S224G; 6:73518800-73518800

 thyroidcarcinomaSubstitution - Missense

c.644A>G; p.K215R; 6:73518826-73518826

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.986G>A; p.S329N; 6:73518397-73518397

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.356G>C; p.G119A; 6:73519197-73519197

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.269T>C; p.I90T; 6:73519392-73519392

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.500_501insA; p.Y167fs*1; 6:73519052-73519053

 breastcarcinomaInsertion - Frameshift

c.787C>T; p.P263S; 6:73518596-73518596

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1216C>T; p.P406S; 6:73518078-73518078

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1133A>C; p.K378T; 6:73518161-73518161

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.188T>G; p.L63R; 6:73519473-73519473

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.271G>A; p.D91N; 6:73519390-73519390

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.271G>A; p.D91N; 6:73519390-73519390

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.271G>A; p.D91N; 6:73519390-73519390

 breastcarcinomaSubstitution - Missense

c.1352T>A; p.V451D; 6:73517847-73517847

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.359T>G; p.V120G; 6:73519194-73519194

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1084G>T; p.D362Y; 6:73518210-73518210

 livercarcinomaSubstitution - Missense

c.860C>T; p.T287M; 6:73518523-73518523

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.196G>A; p.E66K; 6:73519465-73519465

 skinmalignant_melanomaSubstitution - Missense

c.73G>T; p.G25C; 6:73519954-73519954

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.173G>A; p.W58*; 6:73519488-73519488

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.130A>G; p.K44E; 6:73519897-73519897

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.314G>C; p.G105A; 6:73519347-73519347

 prostatecarcinomaSubstitution - Missense

c.1024G>A; p.A342T; 6:73518359-73518359

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.827T>C; p.M276T; 6:73518556-73518556

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1061G>A; p.S354N; 6:73518233-73518233

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1084G>C; p.D362H; 6:73518210-73518210

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1138G>C; p.D380H; 6:73518156-73518156

 breastcarcinomaSubstitution - Missense

c.21T>C; p.H7H; 6:73520006-73520006

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.705C>T; p.I235I; 6:73518765-73518765

 livercarcinomaSubstitution - coding silent

c.705C>T; p.I235I; 6:73518765-73518765

 livercarcinomaSubstitution - coding silent

c.1265-6delT; p.?; 6:73517940-73517940

 oesophaguscarcinoma; adenocarcinomaUnknown

c.1265-6delT; p.?; 6:73517940-73517940

 stomachadenocarcinomaUnknown

c.221A>T; p.D74V; 6:73519440-73519440

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.920A>C; p.N307T; 6:73518463-73518463

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.285_286delCA; p.H95fs*15; 6:73519375-73519376

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.325-1G>A; p.?; 6:73519229-73519229

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1044C>A; p.N348K; 6:73518250-73518250

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1044C>A; p.N348K; 6:73518250-73518250

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.82A>G; p.I28V; 6:73519945-73519945

 central_nervous_system; braingliomaSubstitution - Missense

c.1044C>A; p.N348K; 6:73518250-73518250

 breastcarcinomaSubstitution - Missense

c.296T>C; p.I99T; 6:73519365-73519365

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.316A>G; p.T106A; 6:73519345-73519345

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.914G>T; p.G305V; 6:73518469-73518469

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.519A>G; p.E173E; 6:73519034-73519034

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1205T>C; p.V402A; 6:73518089-73518089

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.794G>A; p.G265D; 6:73518589-73518589

 skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.I75T; 6:73519437-73519437

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.209G>C; p.G70A; 6:73519452-73519452

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.806C>G; p.T269S; 6:73518577-73518577

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.209G>C; p.G70A; 6:73519452-73519452

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1321G>A; p.V441M; 6:73517878-73517878

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1297G>C; p.V433L; 6:73517902-73517902

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1065C>T; p.A355A; 6:73518229-73518229

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1065C>T; p.A355A; 6:73518229-73518229

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.933T>G; p.N311K; 6:73518450-73518450

 skin; extremitymalignant_melanomaSubstitution - Missense

c.1281T>A; p.R427R; 6:73517918-73517918

 livercarcinomaSubstitution - coding silent

c.1281T>A; p.R427R; 6:73517918-73517918

 livercarcinomaSubstitution - coding silent

c.1231_1232insT; p.C411fs*3; 6:73518062-73518063

 breastcarcinomaInsertion - Frameshift

c.754G>A; p.D252N; 6:73518716-73518716

 haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.1045C>T; p.H349Y; 6:73518249-73518249

 skinmalignant_melanomaSubstitution - Missense

c.1045C>T; p.H349Y; 6:73518249-73518249

 skinmalignant_melanomaSubstitution - Missense

c.802G>A; p.E268K; 6:73518581-73518581

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.253T>C; p.Y85H; 6:73519408-73519408

 skinmalignant_melanomaSubstitution - Missense

c.694C>G; p.L232V; 6:73518776-73518776

 livercarcinomaSubstitution - Missense

c.694C>G; p.L232V; 6:73518776-73518776

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.876C>A; p.V292V; 6:73518507-73518507

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1095G>A; p.T365T; 6:73518199-73518199

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.144+1G>A; p.?; 6:73519882-73519882

 livercarcinoma; hepatocellular_carcinomaUnknown

c.370G>A; p.E124K; 6:73519183-73519183

 livercarcinomaSubstitution - Missense

c.370G>A; p.E124K; 6:73519183-73519183

 livercarcinomaSubstitution - Missense

c.786T>C; p.V262V; 6:73518597-73518597

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.629G>A; p.W210*; 6:73518841-73518841

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.15G>C; p.K5N; 6:73520012-73520012

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.724A>G; p.T242A; 6:73518746-73518746

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.1031T>C; p.V344A; 6:73518263-73518263

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.110G>A; p.R37K; 6:73519917-73519917

 skinmalignant_melanomaSubstitution - Missense

c.1264+3_1266del95; p.?; 6:73517933-73518027

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IIIUnknown

c.1264+3_1266del95; p.?; 6:73517933-73518027

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IIIUnknown

c.666T>A; p.N222K; 6:73518804-73518804

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.563T>C; p.V188A; 6:73518990-73518990

 breastcarcinomaSubstitution - Missense

c.213C>T; p.I71I; 6:73519448-73519448

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.325-1G>T; p.?; 6:73519229-73519229

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.325-1G>T; p.?; 6:73519229-73519229

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.325-1G>T; p.?; 6:73519229-73519229

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.325-1G>T; p.?; 6:73519229-73519229

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.325-1G>T; p.?; 6:73519229-73519229

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.325-1G>T; p.?; 6:73519229-73519229

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.325-1G>T; p.?; 6:73519229-73519229

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.647T>G; p.V216G; 6:73518823-73518823

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1294A>T; p.T432S; 6:73517905-73517905

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.354T>C; p.A118A; 6:73519199-73519199

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.943G>C; p.V315L; 6:73518440-73518440

 breastcarcinomaSubstitution - Missense

c.943G>C; p.V315L; 6:73518440-73518440

 breastcarcinomaSubstitution - Missense

c.121A>T; p.K41*; 6:73519906-73519906

 skinmalignant_melanomaSubstitution - Nonsense

c.778G>T; p.G260C; 6:73518605-73518605

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.756T>G; p.D252E; 6:73518714-73518714

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.307A>C; p.I103L; 6:73519354-73519354

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.681G>A; p.T227T; 6:73518789-73518789

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.328G>A; p.D110N; 6:73519225-73519225

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.20A>G; p.H7R; 6:73520007-73520007

 breastcarcinomaSubstitution - Missense

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