| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1936 |
Name | EEF1D |
Synonymous | EF-1D|EF1D|FP1047;eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein);EEF1D;eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) |
Definition | EF-1-delta|antigen NY-CO-4|elongation factor 1-delta|guanine nucleotide exchange protein |
Position | 8q24.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for EEF1D | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
EEF1D_C340Y; chr8; 144671233 |
SUB; MISSENSE; C; C/T; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1610C>T; p.A537V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.545A>G; p.Q182R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.203G>T; p.G68V; 8:144743192-144743192 |
kidney | carcinoma; renal_cell_carcinoma |
c.704A>G; p.E235G; |
eye; uveal_tract | malignant_melanoma |
c.192A>C; p.E64D; |
oesophagus | carcinoma; adenocarcinoma |
c.475G>A; p.V159M; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.568G>T; p.G190C; |
lung | carcinoma; adenocarcinoma |
c.485G>T; p.G162V; |
lung | carcinoma; adenocarcinoma |
c.1304C>T; p.A435V; |
lung | carcinoma; adenocarcinoma |
c.1431G>A; p.R477R; 8:144734424-144734424 |
skin | malignant_melanoma |
c.1589A>G; p.N530S; |
prostate | carcinoma |
c.1820G>A; p.R607Q; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.1129A>T; p.I377F; 8:144740128-144740128 |
ovary | carcinoma; serous_carcinoma |
c.1312G>T; p.G438C; |
lung | carcinoma; squamous_cell_carcinoma |
c.1320C>T; p.S440S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1860G>T; p.V620V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1104T>A; p.A368A; |
breast | carcinoma |
c.1177G>A; p.E393K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1786delG; p.A596fs*>52; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1801C>T; p.P601S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1430G>A; p.R477Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.204C>A; p.G68G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1520C>A; p.P507Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1161A>T; p.A387A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.509T>C; p.F170S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1753C>T; p.R585C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.532G>A; p.V178M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1804G>A; p.V602M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1591G>A; p.E531K; |
breast | carcinoma |
c.114C>T; p.S38S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.260delA; p.K87fs*73; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1386C>T; p.G462G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1094G>T; p.R365I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1130T>C; p.I377T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1329C>T; p.H443H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1429C>T; p.R477W; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1008G>T; p.R336R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.952A>G; p.S318G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1719T>C; p.D573D; |
breast | carcinoma |
c.1130T>C; p.I377T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1282G>A; p.A428T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1229G>A; p.S410N; |
urinary_tract; bladder | carcinoma |
c.1430G>A; p.R477Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1129A>G; p.I377V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1873_1875delCTG; p.L625delL; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1429C>T; p.R477W; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1662G>A; p.K554K; |
urinary_tract; bladder | carcinoma |
c.1582A>G; p.S528G; |
skin | malignant_melanoma |