| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1995 |
Name | ELAVL3 |
Synonymous | HUC|HUCL|PLE21;ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C);ELAVL3;ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) |
Definition | ELAV-like protein 3|Hu antigen C|hu-antigen C|paraneoplastic cerebellar degeneration-associated antigen|paraneoplastic limbic encephalitis antigen 21 |
Position | 19p13.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ELAVL3 | ||
PCGP somatic mutation [Top] | ||
There is no record for ELAVL3 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.46G>A; p.G16S; |
NS | malignant_melanoma |
c.46G>A; p.G16S; |
NS | malignant_melanoma |
c.1074C>T; p.S358S; |
skin; back | malignant_melanoma |
c.47_48insG; p.A18fs*18; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.466A>G; p.I156V; |
NS | NS |
c.466A>G; p.I156V; |
NS | NS |
c.466A>G; p.I156V; |
NS | NS |
c.466A>G; p.I156V; |
NS | NS |
c.323delA; p.K108fs*29; |
oesophagus | carcinoma; adenocarcinoma |
c.196G>A; p.E66K; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.674G>A; p.R225H; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.871C>T; p.L291L; 19:11426574-11426574 |
breast | carcinoma; ductal_carcinoma |
c.616C>A; p.P206T; |
large_intestine; colon | carcinoma |
c.609G>A; p.A203A; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.772A>T; p.R258W; |
lung | carcinoma; adenocarcinoma |
c.61G>T; p.A21S; |
lung | carcinoma; adenocarcinoma |
c.823C>T; p.L275L; |
lung | carcinoma; adenocarcinoma |
c.397C>T; p.P133S; 19:11430363-11430363 |
ovary | carcinoma; serous_carcinoma |
c.280G>A; p.D94N; |
lung | carcinoma; squamous_cell_carcinoma |
c.488-24_488-1del24; p.?; |
ovary | carcinoma; serous_carcinoma |
c.812C>A; p.A271E; |
lung | carcinoma; squamous_cell_carcinoma |
c.909G>T; p.L303L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.832G>T; p.G278C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.769G>T; p.A257S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.47_48insG; p.A18fs*18; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.988G>A; p.V330M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.47delG; p.G16fs*35; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.47_48insG; p.A18fs*18; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.47delG; p.G16fs*35; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.38T>G; p.V13G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.607G>A; p.A203T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1071C>A; p.V357V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.476A>G; p.D159G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.630G>A; p.T210T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.793G>A; p.D265N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4G>A; p.V2I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.793G>A; p.D265N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.949C>T; p.R317C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.47_48insG; p.A18fs*18; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.47delG; p.G16fs*35; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.463C>T; p.R155C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.361T>C; p.S121P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.126C>T; p.I42I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.945C>A; p.V315V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.47_48insG; p.A18fs*18; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.639G>A; p.A213A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.47delG; p.G16fs*35; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.47_48insG; p.A18fs*18; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.47_48insG; p.A18fs*18; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.444C>T; p.Y148Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.47delG; p.G16fs*35; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.608C>T; p.A203V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.47delG; p.G16fs*35; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.47delG; p.G16fs*35; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.47_48insG; p.A18fs*18; |
breast | carcinoma |
c.399C>T; p.P133P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.311_315delAATTA; p.K104fs*21; |
skin | malignant_melanoma |
c.433T>C; p.F145L; |
skin | malignant_melanoma |