| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 8842 |
Name | PROM1 |
Synonymous | AC133|CD133|CORD12|MCDR2|PROML1|RP41|STGD4;prominin 1;PROM1;prominin 1 |
Definition | antigen AC133|hProminin|hematopoietic stem cell antigen|prominin-1|prominin-like 1|prominin-like protein 1 |
Position | 4p15.32 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for PROM1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
PROM1_N729K; chr4; 15987604 |
SUB; MISSENSE; G; G/C; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.2138T>A; p.V713E; |
liver | carcinoma; hepatocellular_carcinoma |
c.2314G>C; p.A772P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2314G>C; p.A772P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2188A>T; p.N730Y; |
liver | carcinoma; hepatocellular_carcinoma |
c.259A>C; p.K87Q; |
liver | carcinoma; hepatocellular_carcinoma |
c.2296G>T; p.A766S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2296G>T; p.A766S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1012G>A; p.V338M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1415G>A; p.R472Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1415G>A; p.R472Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1234T>A; p.Y412N; |
pancreas | carcinoma |
c.1696_1697insA; p.N566fs*2; |
pancreas | carcinoma; acinar_carcinoma |
c.678G>A; p.A226A; 4:15635032-15635032 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma |
c.1926C>A; p.P642P; 4:15602000-15602000 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.662C>A; p.T221N; |
liver | carcinoma; hepatocellular_carcinoma |
c.1134C>T; p.V378V; |
oesophagus | carcinoma; adenocarcinoma |
c.288A>G; p.V96V; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.561C>A; p.I187I; |
liver | carcinoma |
c.44G>A; p.G15E; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1234T>A; p.Y412N; |
pancreas | carcinoma; ductal_carcinoma |
c.534G>T; p.V178V; |
lung | carcinoma; adenocarcinoma |
c.1220C>T; p.S407L; |
lung | carcinoma; adenocarcinoma |
c.1002+1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.535_536GC>TT; p.A179L; 4:15636007-15636008 |
lung | carcinoma; non_small_cell_carcinoma |
c.1245C>T; p.N415N; 4:15619726-15619726 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1680C>T; p.Y560Y; |
breast | carcinoma |
c.2436G>A; p.A812A; |
liver | carcinoma |
c.2077A>T; p.S693C; |
liver | carcinoma |
c.816C>A; p.N272K; 4:15629230-15629230 |
ovary | carcinoma; serous_carcinoma |
c.2043C>A; p.H681Q; 4:15600486-15600486 |
ovary | carcinoma; serous_carcinoma |
c.1276A>G; p.T426A; |
lung | carcinoma; squamous_cell_carcinoma |
c.1698T>C; p.N566N; |
lung | carcinoma; squamous_cell_carcinoma |
c.436C>T; p.R146*; |
lung | carcinoma; squamous_cell_carcinoma |
c.1207C>A; p.Q403K; |
lung | carcinoma; adenocarcinoma |
c.984C>T; p.S328S; |
lung | carcinoma; adenocarcinoma |
c.1078-1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.2174A>G; p.N725S; 4:15596715-15596715 |
ovary | carcinoma; serous_carcinoma |
c.2272G>C; p.E758Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.277C>A; p.P93T; |
lung | carcinoma; squamous_cell_carcinoma |
c.651C>A; p.A217A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1697delA; p.N566fs*29; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1408A>T; p.T470S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1697delA; p.N566fs*29; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1245C>A; p.N415K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.605G>A; p.R202Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.438A>C; p.R146R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.228G>A; p.L76L; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.646T>G; p.L216V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1251A>C; p.E417D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2059C>G; p.P687A; |
breast | carcinoma |
c.1195C>T; p.R399C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2212G>A; p.E738K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.41G>A; p.C14Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.857A>C; p.Q286P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1926C>T; p.P642P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2301G>A; p.S767S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1926C>T; p.P642P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2176T>A; p.F726I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1267A>C; p.N423H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.289A>C; p.I97L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1441G>A; p.V481I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.56C>G; p.S19*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1698T>C; p.N566N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.228G>A; p.L76L; |
breast | carcinoma |
c.1146C>G; p.I382M; |
breast | carcinoma |
c.2536_2537insT; p.Y846fs*3; |
breast | carcinoma |
c.127A>C; p.T43P; |
urinary_tract; bladder | carcinoma |
c.843C>T; p.H281H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.605G>A; p.R202Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1927G>A; p.A643T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.387C>A; p.F129L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.815A>G; p.N272S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1244A>G; p.N415S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.676G>A; p.A226T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1697delA; p.N566fs*29; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2281A>G; p.I761V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.377T>G; p.V126G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.396G>A; p.M132I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1926C>A; p.P642P; 4:15602000-15602000 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1244A>G; p.N415S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.676G>C; p.A226P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1925C>G; p.P642R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2330C>A; p.T777N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1455-1G>T; p.?; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1697delA; p.N566fs*29; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1796A>G; p.E599G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1825C>A; p.L609M; |
urinary_tract; bladder | carcinoma |
c.1697delA; p.N566fs*29; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1697delA; p.N566fs*29; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1243A>T; p.N415Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1711G>A; p.G571S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |