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

Basic Information

Gene ID

8665

Name

EIF3F

Synonymous

eukaryotic translation initiation factor 3, subunit F;EIF3F;eukaryotic translation initiation factor 3, subunit F

Definition

deubiquitinating enzyme eIF3f|eIF-3-epsilon|eIF3-epsilon|eukaryotic translation initiation factor 3 subunit F|eukaryotic translation initiation factor 3, subunit 5 (epsilon, 47kD)|eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa

Position

11p15.4

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 0.24.

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.941A>G; p.Q314R; 11:7995312-7995312

 large_intestine; colonNSSubstitution - Missense

c.262G>A; p.G88S; 11:7987614-7987614

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.130G>A; p.A44T; 11:7987482-7987482

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.451G>T; p.E151*; 11:7992099-7992099

 breastcarcinomaSubstitution - Nonsense

c.117C>T; p.P39P; 11:7987469-7987469

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.756C>T; p.I252I; 11:7994992-7994992

 skinmalignant_melanomaSubstitution - coding silent

c.654-2A>T; p.?; 11:7994424-7994424

 thyroidcarcinomaUnknown

c.1008G>T; p.M336I; 11:7995956-7995956

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.402C>A; p.C134*; 11:7991818-7991818

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.236G>A; p.G79D; 11:7987588-7987588

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.774C>T; p.S258S; 11:7995010-7995010

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.774C>A; p.S258R; 11:7995010-7995010

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1005G>C; p.L335F; 11:7995953-7995953

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.16G>A; p.V6I; 11:7987368-7987368

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.112G>C; p.V38L; 11:7987464-7987464

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.524C>T; p.T175M; 11:7992895-7992895

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.100G>A; p.A34T; 11:7987452-7987452

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.562G>A; p.E188K; 11:7992933-7992933

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.664_665GG>TT; p.G222>?; 11:7994436-7994437

 lungcarcinoma; adenocarcinomaComplex

c.523A>C; p.T175P; 11:7992894-7992894

 skinmalignant_melanomaSubstitution - Missense

c.745+1G>T; p.?; 11:7994518-7994518

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.561C>T; p.H187H; 11:7992932-7992932

 thyroidother; neoplasmSubstitution - coding silent

c.923T>C; p.L308P; 11:7995294-7995294

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.336T>G; p.G112G; 11:7987688-7987688

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.417C>T; p.H139H; 11:7991833-7991833

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.525G>A; p.T175T; 11:7992896-7992896

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.451_452insA; p.F152fs*3; 11:7992099-7992100

 livercarcinomaInsertion - Frameshift

c.910G>C; p.V304L; 11:7995281-7995281

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.116C>T; p.P39L; 11:7987468-7987468

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.777C>T; p.P259P; 11:7995013-7995013

 breastcarcinomaSubstitution - coding silent

c.961G>C; p.D321H; 11:7995332-7995332

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.833G>A; p.R278H; 11:7995069-7995069

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.582C>T; p.A194A; 11:7992953-7992953

 skinmalignant_melanomaSubstitution - coding silent

c.374A>T; p.D125V; 11:7991790-7991790

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.972G>A; p.E324E; 11:7995343-7995343

 skinmalignant_melanomaSubstitution - coding silent

c.481A>T; p.K161*; 11:7992129-7992129

 oesophaguscarcinomaSubstitution - Nonsense

c.489T>A; p.V163V; 11:7992137-7992137

 skinmalignant_melanomaSubstitution - coding silent

c.549_550delTG; p.V184fs*61; 11:7992920-7992921

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; NK-T_cell_lymphomaDeletion - Frameshift

c.718G>T; p.A240S; 11:7994490-7994490

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.718G>T; p.A240S; 11:7994490-7994490

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.773G>T; p.S258I; 11:7995009-7995009

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.684G>A; p.M228I; 11:7994456-7994456

 skin; trunkmalignant_melanomaSubstitution - Missense

')