| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7386 |
Name | UQCRFS1 |
Synonymous | RIP1|RIS1|RISP|UQCR5;ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1;UQCRFS1;ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 |
Definition | Rieske iron-sulfur protein|complex III subunit 5|cytochrome b-c1 complex subunit 5|cytochrome b-c1 complex subunit Rieske, mitochondrial|ubiquinol-cytochrome c reductase iron-sulfur subunit |
Position | 19q12 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for UQCRFS1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
UQCRFS1_E1_UTR_5; chr19; 29704123 |
SUB; UTR_5; G; G/A; SOMATIC | RHB; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.275G>A; p.R92H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.384T>A; p.A128A; |
oesophagus | carcinoma; adenocarcinoma |
c.578C>T; p.S193L; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.422G>T; p.S141I; |
lung | carcinoma; adenocarcinoma |
c.747C>G; p.I249M; |
lung | carcinoma; squamous_cell_carcinoma |
c.322G>A; p.E108K; |
lung | carcinoma; squamous_cell_carcinoma |
c.470C>G; p.S157C; |
lung | carcinoma; adenocarcinoma |
c.601G>C; p.D201H; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.313G>T; p.E105*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.530G>A; p.R177H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.815T>C; p.I272T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.408C>T; p.F136F; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.247A>G; p.I83V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.597G>T; p.Q199H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.457G>A; p.E153K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.247A>G; p.I83V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.313G>T; p.E105*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.247A>G; p.I83V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.786G>A; p.T262T; |
breast | carcinoma |
c.247A>G; p.I83V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.714C>T; p.C238C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.793T>C; p.F265L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.513C>T; p.G171G; |
large_intestine; caecum | carcinoma; adenocarcinoma |