| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1996 |
Name | ELAVL4 |
Synonymous | HUD|PNEM;ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D);ELAVL4;ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) |
Definition | ELAV-like protein 4|Embryonic lethal, abnormal vision, Drosophila, homolog of, like-4|hu-antigen D|paraneoplastic encephalomyelitis antigen HuD |
Position | 1p34 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ELAVL4 | ||
PCGP somatic mutation [Top] | ||
There is no record for ELAVL4 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.398A>G; p.N133S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.562G>A; p.E188K; |
lung | carcinoma; small_cell_carcinoma |
c.630C>A; p.A210A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.524T>A; p.V175E; |
liver | carcinoma; hepatocellular_carcinoma |
c.524T>A; p.V175E; |
liver | carcinoma; hepatocellular_carcinoma |
c.517A>G; p.R173G; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.335T>C; p.L112P; |
oesophagus | carcinoma; adenocarcinoma |
c.448C>A; p.Q150K; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1097G>A; p.R366K; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.606G>A; p.T202T; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.93T>C; p.C31C; |
lung | carcinoma; adenocarcinoma |
c.114G>A; p.G38G; |
lung | carcinoma; adenocarcinoma |
c.688A>G; p.N230D; |
lung | carcinoma; adenocarcinoma |
c.199G>A; p.G67R; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1045G>A; p.D349N; |
NS | malignant_melanoma |
c.660C>G; p.A220A; |
pancreas | NS |
c.962G>A; p.G321E; |
lung | carcinoma; small_cell_carcinoma |
c.181G>T; p.E61*; |
lung | carcinoma; adenocarcinoma |
c.1085G>A; p.R362H; 1:50439379-50439379 |
ovary | carcinoma; serous_carcinoma |
c.541G>A; p.D181N; |
lung | carcinoma; squamous_cell_carcinoma |
c.1134C>A; p.H378Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.289C>G; p.P97A; |
lung | carcinoma; squamous_cell_carcinoma |
c.444G>A; p.L148L; |
lung | carcinoma; adenocarcinoma |
c.119C>A; p.T40N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.137C>T; p.T46I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.823_824CC>AA; p.P275K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1078G>A; p.G360R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.106C>T; p.Q36*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.765C>T; p.G255G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.988C>T; p.R330C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.924C>T; p.S308S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.899T>C; p.F300S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1140C>A; p.S380S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.511G>A; p.V171M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.400C>T; p.L134F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.774-1G>T; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1085G>A; p.R362H; 1:50439379-50439379 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1142G>T; p.*381L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.625T>G; p.F209V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1085G>A; p.R362H; 1:50439379-50439379 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.531C>A; p.F177L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.129C>T; p.D43D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.787C>T; p.P263S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.839G>A; p.G280E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.800C>T; p.S267F; |
urinary_tract; bladder | carcinoma |
c.951T>C; p.F317F; |
urinary_tract; bladder | carcinoma |
c.253C>T; p.Q85*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.510A>G; p.G170G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.152A>G; p.N51S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.147C>T; p.I49I; |
urinary_tract; bladder | carcinoma |
c.308C>T; p.A103V; |
urinary_tract; bladder | carcinoma |
c.260T>G; p.L87*; |
urinary_tract; bladder | carcinoma |
c.1020C>T; p.F340F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.372G>A; p.P124P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.559G>A; p.E187K; |
urinary_tract; bladder | carcinoma |
c.193C>T; p.L65F; |
urinary_tract; bladder | carcinoma |
c.372G>A; p.P124P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7A>G; p.M3V; |
prostate | carcinoma |
c.803C>T; p.A268V; |
skin | malignant_melanoma |
c.181G>A; p.E61K; |
skin | malignant_melanoma |
c.485G>A; p.R162Q; |
skin | malignant_melanoma |
c.919G>A; p.D307N; |
skin | malignant_melanoma |
c.650C>T; p.S217F; |
skin | malignant_melanoma |
c.118A>G; p.T40A; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.462A>C; p.Q154H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.670C>A; p.Q224K; |
stomach | adenocarcinoma |