| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2184 |
Name | FAH |
Synonymous | -;fumarylacetoacetate hydrolase (fumarylacetoacetase);FAH;fumarylacetoacetate hydrolase (fumarylacetoacetase) |
Definition | FAA|beta-diketonase|fumarylacetoacetase |
Position | 15q23-q25 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for FAH | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
FAH_E1_UTR_5; chr15; 80445363 |
SUB; UTR_5; C; C/T; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.82-8C>T; p.?; |
NS | malignant_melanoma |
c.82-8C>T; p.?; |
NS | malignant_melanoma |
c.440C>T; p.A147V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.909G>A; p.L303L; |
urinary_tract; bladder | carcinoma |
c.262T>C; p.L88L; |
oesophagus | carcinoma; adenocarcinoma |
c.181G>T; p.V61F; |
stomach | carcinoma; adenocarcinoma |
c.1049C>T; p.T350I; |
large_intestine; colon | carcinoma |
c.426G>T; p.R142S; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.332C>G; p.A111G; |
lung | carcinoma; adenocarcinoma |
c.332C>T; p.A111V; |
lung | carcinoma; small_cell_carcinoma |
c.826A>T; p.N276Y; |
lung | carcinoma; small_cell_carcinoma |
c.933G>T; p.A311A; |
lung | carcinoma; squamous_cell_carcinoma |
c.549T>G; p.D183E; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.741C>T; p.L247L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1231A>T; p.K411*; |
lung | carcinoma; squamous_cell_carcinoma |
c.391C>A; p.R131R; |
lung | carcinoma; squamous_cell_carcinoma |
c.678T>C; p.F226F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.525G>A; p.R175R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.391C>T; p.R131W; |
breast | carcinoma |
c.178G>A; p.D60N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1098G>A; p.S366S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.897C>A; p.L299L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.831G>A; p.P277P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1084A>G; p.M362V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.321C>T; p.F107F; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.440C>T; p.A147V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.242C>T; p.A81V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.709C>T; p.R237*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1204C>T; p.R402C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.226G>A; p.A76T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.411C>G; p.V137V; |
breast | carcinoma |
c.197C>T; p.T66I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.942A>G; p.I314M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1062G>A; p.P354P; |
prostate | carcinoma; adenocarcinoma |
c.741C>T; p.L247L; |
urinary_tract; bladder | carcinoma |
c.815T>C; p.F272S; |
large_intestine; colon | carcinoma; adenocarcinoma |