Epithelial-Mesenchymal Transition gene database (dbEMT) Home
dbEMT
Pediatric cancer database
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 data
COSMIC data

PCGP data   [Top]

Variant (Variant; Chr; Position)

Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin)

Disease (CancerType; ValidationStatus; SequencingType)

PROM1_N729K; chr4; 15987604

SUB; MISSENSE; G; G/C; SOMATICRHB; PUTATIVE-HQ; EXOME

COSMIC data   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.2138T>A; p.V713E;

livercarcinoma; hepatocellular_carcinoma

c.2314G>C; p.A772P;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma

c.2314G>C; p.A772P;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma

c.2188A>T; p.N730Y;

livercarcinoma; hepatocellular_carcinoma

c.259A>C; p.K87Q;

livercarcinoma; hepatocellular_carcinoma

c.2296G>T; p.A766S;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma

c.2296G>T; p.A766S;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma

c.1012G>A; p.V338M;

large_intestine; coloncarcinoma; adenocarcinoma

c.1415G>A; p.R472Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.1415G>A; p.R472Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.1234T>A; p.Y412N;

pancreascarcinoma

c.1696_1697insA; p.N566fs*2;

pancreascarcinoma; acinar_carcinoma

c.678G>A; p.A226A; 4:15635032-15635032

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinoma

c.1926C>A; p.P642P; 4:15602000-15602000

central_nervous_system; brainglioma; astrocytoma_Grade_IV

c.662C>A; p.T221N;

livercarcinoma; hepatocellular_carcinoma

c.1134C>T; p.V378V;

oesophaguscarcinoma; adenocarcinoma

c.288A>G; p.V96V;

oesophagus; lower_thirdcarcinoma; adenocarcinoma

c.561C>A; p.I187I;

livercarcinoma

c.44G>A; p.G15E;

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinoma

c.1234T>A; p.Y412N;

pancreascarcinoma; ductal_carcinoma

c.534G>T; p.V178V;

lungcarcinoma; adenocarcinoma

c.1220C>T; p.S407L;

lungcarcinoma; adenocarcinoma

c.1002+1G>T; p.?;

lungcarcinoma; adenocarcinoma

c.535_536GC>TT; p.A179L; 4:15636007-15636008

lungcarcinoma; non_small_cell_carcinoma

c.1245C>T; p.N415N; 4:15619726-15619726

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1680C>T; p.Y560Y;

breastcarcinoma

c.2436G>A; p.A812A;

livercarcinoma

c.2077A>T; p.S693C;

livercarcinoma

c.816C>A; p.N272K; 4:15629230-15629230

ovarycarcinoma; serous_carcinoma

c.2043C>A; p.H681Q; 4:15600486-15600486

ovarycarcinoma; serous_carcinoma

c.1276A>G; p.T426A;

lungcarcinoma; squamous_cell_carcinoma

c.1698T>C; p.N566N;

lungcarcinoma; squamous_cell_carcinoma

c.436C>T; p.R146*;

lungcarcinoma; squamous_cell_carcinoma

c.1207C>A; p.Q403K;

lungcarcinoma; adenocarcinoma

c.984C>T; p.S328S;

lungcarcinoma; adenocarcinoma

c.1078-1G>T; p.?;

lungcarcinoma; adenocarcinoma

c.2174A>G; p.N725S; 4:15596715-15596715

ovarycarcinoma; serous_carcinoma

c.2272G>C; p.E758Q;

lungcarcinoma; squamous_cell_carcinoma

c.277C>A; p.P93T;

lungcarcinoma; squamous_cell_carcinoma

c.651C>A; p.A217A;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.1697delA; p.N566fs*29;

large_intestine; coloncarcinoma; adenocarcinoma

c.1408A>T; p.T470S;

large_intestine; coloncarcinoma; adenocarcinoma

c.1697delA; p.N566fs*29;

large_intestine; coloncarcinoma; adenocarcinoma

c.1245C>A; p.N415K;

large_intestine; caecumcarcinoma; adenocarcinoma

c.605G>A; p.R202Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.438A>C; p.R146R;

large_intestine; coloncarcinoma; adenocarcinoma

c.228G>A; p.L76L;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.646T>G; p.L216V;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1251A>C; p.E417D;

large_intestine; rectumcarcinoma; adenocarcinoma

c.2059C>G; p.P687A;

breastcarcinoma

c.1195C>T; p.R399C;

endometriumcarcinoma; endometrioid_carcinoma

c.2212G>A; p.E738K;

endometriumcarcinoma; endometrioid_carcinoma

c.41G>A; p.C14Y;

endometriumcarcinoma; endometrioid_carcinoma

c.857A>C; p.Q286P;

endometriumcarcinoma; endometrioid_carcinoma

c.1926C>T; p.P642P;

large_intestine; coloncarcinoma; adenocarcinoma

c.2301G>A; p.S767S;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1926C>T; p.P642P;

large_intestine; coloncarcinoma; adenocarcinoma

c.2176T>A; p.F726I;

large_intestine; coloncarcinoma; adenocarcinoma

c.1267A>C; p.N423H;

endometriumcarcinoma; endometrioid_carcinoma

c.289A>C; p.I97L;

endometriumcarcinoma; endometrioid_carcinoma

c.1441G>A; p.V481I;

endometriumcarcinoma; endometrioid_carcinoma

c.56C>G; p.S19*;

endometriumcarcinoma; endometrioid_carcinoma

c.1698T>C; p.N566N;

endometriumcarcinoma; endometrioid_carcinoma

c.228G>A; p.L76L;

breastcarcinoma

c.1146C>G; p.I382M;

breastcarcinoma

c.2536_2537insT; p.Y846fs*3;

breastcarcinoma

c.127A>C; p.T43P;

urinary_tract; bladdercarcinoma

c.843C>T; p.H281H;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.605G>A; p.R202Q;

endometriumcarcinoma; endometrioid_carcinoma

c.1927G>A; p.A643T;

endometriumcarcinoma; endometrioid_carcinoma

c.387C>A; p.F129L;

endometriumcarcinoma; endometrioid_carcinoma

c.815A>G; p.N272S;

large_intestine; coloncarcinoma; adenocarcinoma

c.1244A>G; p.N415S;

large_intestine; coloncarcinoma; adenocarcinoma

c.676G>A; p.A226T;

large_intestine; coloncarcinoma; adenocarcinoma

c.1697delA; p.N566fs*29;

large_intestine; coloncarcinoma; adenocarcinoma

c.2281A>G; p.I761V;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.377T>G; p.V126G;

endometriumcarcinoma; endometrioid_carcinoma

c.396G>A; p.M132I;

endometriumcarcinoma; endometrioid_carcinoma

c.1926C>A; p.P642P; 4:15602000-15602000

large_intestine; caecumcarcinoma; adenocarcinoma

c.1244A>G; p.N415S;

large_intestine; coloncarcinoma; adenocarcinoma

c.676G>C; p.A226P;

large_intestine; coloncarcinoma; adenocarcinoma

c.1925C>G; p.P642R;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2330C>A; p.T777N;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1455-1G>T; p.?;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1697delA; p.N566fs*29;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1796A>G; p.E599G;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1825C>A; p.L609M;

urinary_tract; bladdercarcinoma

c.1697delA; p.N566fs*29;

large_intestine; coloncarcinoma; adenocarcinoma

c.1697delA; p.N566fs*29;

large_intestine; coloncarcinoma; adenocarcinoma

c.1243A>T; p.N415Y;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1711G>A; p.G571S;

kidneycarcinoma; clear_cell_renal_cell_carcinoma


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