| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2191 |
Name | FAP |
Synonymous | DPPIV|FAPA;fibroblast activation protein, alpha;FAP;fibroblast activation protein, alpha |
Definition | 170 kDa melanoma membrane-bound gelatinase|integral membrane serine protease|seprase |
Position | 2q23 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for FAP | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
FAP_W557*; chr2; 163044822 |
SUB; NONSENSE; C; C/T; SOMATIC | HYPO; VALID; WGS |
FAP_S156fs; chr2; 163076382 |
DEL; FRAMESHIFT; G; G/-; SOMATIC | MB; VALID; WGS |
FAP_V165I; chr2; 163075687 |
SUB; MISSENSE; C; C/T; SOMATIC | MB; PUTATIVE-HQ; WGS |
FAP_S237S; chr2; 163074547 |
SUB; SILENT; G; G/A; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.592G>T; p.D198Y; |
lung | carcinoma; small_cell_carcinoma |
c.1681C>T; p.L561F; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.859G>A; p.A287T; |
meninges | meningioma; secretory |
c.1671G>T; p.W557C; |
lung | carcinoma; small_cell_carcinoma |
c.2185T>C; p.Y729H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.425G>T; p.R142I; |
pancreas | carcinoma |
c.290G>T; p.S97I; |
pancreas | carcinoma; acinar_carcinoma |
c.1910G>A; p.G637E; |
liver | carcinoma |
c.1093T>A; p.Y365N; |
prostate | carcinoma; adenocarcinoma |
c.1092C>A; p.Y364*; |
prostate | carcinoma; adenocarcinoma |
c.80G>T; p.R27L; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.773A>C; p.K258T; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.757C>G; p.P253A; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.583G>A; p.G195R; |
lung | carcinoma; small_cell_carcinoma |
c.1002+2T>A; p.?; |
lung | carcinoma; small_cell_carcinoma |
c.614T>C; p.M205T; |
large_intestine; colon | carcinoma |
c.239A>T; p.N80I; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.2002C>T; p.P668S; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.80G>T; p.R27L; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.435G>T; p.E145D; |
lung | carcinoma; adenocarcinoma |
c.2262G>T; p.Q754H; |
lung | carcinoma; adenocarcinoma |
c.1885G>A; p.V629I; |
lung | carcinoma; adenocarcinoma |
c.1095C>A; p.Y365*; |
lung | carcinoma; adenocarcinoma |
c.1281T>C; p.I427I; |
lung | carcinoma; adenocarcinoma |
c.1146C>A; p.D382E; |
lung | carcinoma; adenocarcinoma |
c.148G>A; p.G50R; |
skin; extremity | malignant_melanoma |
c.320C>T; p.P107L; |
NS | malignant_melanoma |
c.158C>T; p.S53F; |
prostate | carcinoma |
c.1749A>G; p.K583K; |
pancreas | carcinoma; ductal_carcinoma |
c.117G>C; p.M39I; |
NS | NS |
c.1341G>A; p.R447R; |
lung | carcinoma; small_cell_carcinoma |
c.322G>T; p.D108Y; |
lung | carcinoma; small_cell_carcinoma |
c.809C>G; p.T270S; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.467delC; p.S156fs*7; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.493G>A; p.V165I; |
central_nervous_system; brainstem | primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype |
c.309C>T; p.Y103Y; |
endometrium | carcinoma; serous_carcinoma |
c.86C>A; p.S29*; |
autonomic_ganglia | neuroblastoma |
c.806C>G; p.T269S; |
lung | carcinoma; adenocarcinoma |
c.914G>T; p.C305F; |
lung | carcinoma; adenocarcinoma |
c.2222C>A; p.T741K; 2:162735796-162735796 |
ovary | carcinoma; serous_carcinoma |
c.1048-1G>C; p.?; 2:162767902-162767902 |
ovary | carcinoma; serous_carcinoma |
c.1620-37_1620-1del37; p.?; |
ovary | carcinoma; serous_carcinoma |
c.272G>T; p.S91I; |
lung | carcinoma; squamous_cell_carcinoma |
c.474T>G; p.V158V; |
lung | carcinoma; squamous_cell_carcinoma |
c.734C>T; p.P245L; 2:162782770-162782770 |
ovary | carcinoma; serous_carcinoma |
c.1415C>T; p.P472L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1631C>A; p.P544H; |
lung | carcinoma; squamous_cell_carcinoma |
c.135G>T; p.K45N; |
lung | carcinoma; squamous_cell_carcinoma |
c.538C>A; p.P180T; |
lung | carcinoma; adenocarcinoma |
c.789G>T; p.R263R; |
lung | carcinoma; squamous_cell_carcinoma |
c.1183T>C; p.W395R; |
lung | carcinoma; squamous_cell_carcinoma |
c.1952C>A; p.S651Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.1862G>T; p.W621L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1982C>T; p.T661I; |
lung | carcinoma; adenocarcinoma |
c.79C>T; p.R27C; |
lung | carcinoma; adenocarcinoma |
c.1211C>T; p.T404I; |
lung | carcinoma; squamous_cell_carcinoma |
c.1299T>A; p.P433P; |
lung | carcinoma; adenocarcinoma |
c.1440C>A; p.R480R; |
lung | carcinoma; adenocarcinoma |
c.1942G>C; p.A648P; |
lung | carcinoma; squamous_cell_carcinoma |
c.75C>T; p.V25V; |
ovary | carcinoma; serous_carcinoma |
c.216A>T; p.A72A; |
lung | carcinoma; adenocarcinoma |
c.1138A>G; p.I380V; |
lung | carcinoma; adenocarcinoma |
c.1128T>C; p.H376H; |
lung | carcinoma; squamous_cell_carcinoma |
c.908G>T; p.R303L; |
lung | carcinoma; squamous_cell_carcinoma |
c.751C>G; p.P251A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.140T>A; p.I47N; |
breast | carcinoma |
c.1620-2A>T; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1666A>G; p.N556D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1813A>G; p.R605G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2202C>T; p.H734H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.735T>C; p.P245P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1506G>T; p.Q502H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.720C>T; p.G240G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.787C>T; p.R263W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1220C>T; p.S407L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1302A>T; p.P434P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2042C>A; p.T681N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1620-2A>T; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1620-2A>T; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1620-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1649G>C; p.R550T; |
breast | carcinoma |
c.735T>C; p.P245P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1050C>A; p.F350L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.546A>C; p.Q182H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1439G>A; p.R480H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.327G>A; p.R109R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1483G>A; p.E495K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.947C>T; p.S316L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.382G>A; p.A128T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1368C>T; p.S456S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.948G>A; p.S316S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.158C>A; p.S53Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.565G>T; p.E189*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1671G>A; p.W557*; |
breast | carcinoma |
c.899C>T; p.T300I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.415G>T; p.E139*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.646C>A; p.P216T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.325C>T; p.R109W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1324C>A; p.H442N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1825G>T; p.E609*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.787C>G; p.R263G; |
breast | carcinoma |
c.801C>T; p.I267I; |
breast | carcinoma |
c.801C>T; p.I267I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.659T>G; p.F220C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1804A>G; p.T602A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.415G>T; p.E139*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1089G>A; p.S363S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2120T>A; p.F707Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1416C>A; p.P472P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.890C>T; p.T297M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1368C>T; p.S456S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.536C>T; p.P179L; |
urinary_tract; bladder | carcinoma |
c.2039C>G; p.S680*; |
urinary_tract; bladder | carcinoma |
c.1405C>T; p.P469S; |
urinary_tract; bladder | carcinoma |
c.160T>A; p.Y54N; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.309C>T; p.Y103Y; |
prostate | carcinoma |
c.1402+9C>T; p.?; |
prostate | carcinoma |
c.1226T>A; p.F409Y; |
skin | malignant_melanoma |
c.1114G>A; p.D372N; |
skin | malignant_melanoma |
c.947C>T; p.S316L; |
skin | malignant_melanoma |
c.1769G>A; p.R590Q; |
skin | malignant_melanoma |
c.485T>G; p.L162*; |
skin; scalp | carcinoma; squamous_cell_carcinoma |