| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 11281 |
Name | POU6F2 |
Synonymous | RPF-1|WT5|WTSL;POU class 6 homeobox 2;POU6F2;POU class 6 homeobox 2 |
Definition | POU domain, class 6, transcription factor 2|Wilms tumor suppressor locus|retina-derived POU domain factor 1|retina-derived POU-domain factor-1 |
Position | 7p14.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for POU6F2 | ||
PCGP somatic mutation [Top] | ||
There is no record for POU6F2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1030A>G; p.I344V; |
liver | carcinoma; hepatocellular_carcinoma |
c.383C>T; p.A128V; |
NS | malignant_melanoma |
c.1867A>C; p.N623H; |
liver | carcinoma; hepatocellular_carcinoma |
c.1932G>A; p.L644L; |
NS | malignant_melanoma |
c.1932G>A; p.L644L; |
NS | malignant_melanoma |
c.850C>T; p.L284L; |
NS | malignant_melanoma |
c.850C>T; p.L284L; |
NS | malignant_melanoma |
c.1572-9delc; p.?; |
NS | malignant_melanoma |
c.1481G>A; p.R494Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1322A>G; p.Q441R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.632C>T; p.A211V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1886A>G; p.N629S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.559_561delCAG; p.Q187delQ; |
NS | malignant_melanoma |
c.559_561delCAG; p.Q187delQ; |
NS | malignant_melanoma |
c.282+7A>G; p.?; |
liver | carcinoma |
c.1403-4C>T; p.?; 7:39470302-39470302 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1484G>A; p.R495H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.333G>A; p.P111P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.325G>A; p.V109M; |
oesophagus | carcinoma; adenocarcinoma |
c.325G>A; p.V109M; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.234C>A; p.D78E; |
oesophagus | carcinoma; adenocarcinoma |
c.1901G>T; p.G634V; |
oesophagus | carcinoma; adenocarcinoma |
c.1032C>T; p.I344I; |
stomach | carcinoma; adenocarcinoma |
c.134C>A; p.P45H; |
liver | carcinoma |
c.339C>A; p.G113G; |
liver | carcinoma |
c.1442T>G; p.L481R; |
liver | carcinoma |
c.701A>G; p.Q234R; |
liver | carcinoma |
c.885+10C>T; p.?; |
liver | carcinoma |
c.855T>C; p.P285P; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.829A>C; p.S277R; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1506G>A; p.Q502Q; |
skin; trunk | malignant_melanoma; nodular |
c.596C>T; p.P199L; |
NS | NS |
c.559_561delCAG; p.Q187delQ; |
lung | carcinoma; adenocarcinoma |
c.558_561delCCAG; p.Q187fs*114; |
lung | carcinoma; adenocarcinoma |
c.384G>A; p.A128A; |
lung | carcinoma; adenocarcinoma |
c.431C>A; p.A144E; |
lung | carcinoma; adenocarcinoma |
c.347C>T; p.A116V; |
lung | carcinoma; adenocarcinoma |
c.2072C>T; p.S691F; |
skin; extremity | malignant_melanoma |
c.293C>T; p.T98M; |
NS | NS |
c.832C>T; p.Q278*; |
NS | NS |
c.1144C>G; p.Q382E; |
prostate | carcinoma |
c.958G>C; p.A320P; |
liver | carcinoma |
c.1738C>T; p.R580W; |
autonomic_ganglia | neuroblastoma |
c.1571+2T>A; p.?; |
lung | carcinoma; adenocarcinoma |
c.341C>A; p.P114H; |
lung | carcinoma; adenocarcinoma |
c.190+1G>T; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.817C>A; p.P273T; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.804G>A; p.Q268Q; |
lung | carcinoma; adenocarcinoma |
c.1206G>T; p.T402T; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.224G>T; p.G75V; |
lung | carcinoma; squamous_cell_carcinoma |
c.1443G>C; p.L481L; |
lung | carcinoma; adenocarcinoma |
c.2059C>G; p.L687V; |
lung | carcinoma; adenocarcinoma |
c.191G>C; p.G64A; |
lung | carcinoma; adenocarcinoma |
c.793C>A; p.P265T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.518C>T; p.S173L; |
lung | carcinoma; adenocarcinoma |
c.1026G>T; p.Q342H; |
lung | carcinoma; squamous_cell_carcinoma |
c.691G>A; p.A231T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.94G>A; p.E32K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.343C>A; p.P115T; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1641G>C; p.L547L; |
breast | carcinoma |
c.1792G>A; p.E598K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.330G>T; p.M110I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.238C>T; p.H80Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.467C>T; p.A156V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.143C>T; p.A48V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.586C>T; p.Q196*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1115delC; p.Q374fs*22; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.189C>T; p.F63F; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.528C>A; p.N176K; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1288C>T; p.L430L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.965G>C; p.G322A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1522G>T; p.A508S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.179G>A; p.S60N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.801G>C; p.Q267H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.971C>A; p.A324D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2057C>A; p.S686Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.625C>T; p.P209S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.559_561delCAG; p.Q187delQ; |
endometrium | carcinoma; endometrioid_carcinoma |
c.367A>T; p.I123F; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.415C>A; p.L139I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1509T>G; p.T503T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1732C>T; p.L578F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.867G>A; p.T289T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.121G>A; p.E41K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1480C>T; p.R494W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.364C>G; p.L122V; |
breast | carcinoma |
c.79G>A; p.A27T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1520A>G; p.Q507R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1863C>T; p.I621I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1767T>C; p.H589H; |
breast | carcinoma |
c.727C>T; p.Q243*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1520A>T; p.Q507L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.867G>A; p.T289T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.383C>T; p.A128V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1522G>T; p.A508S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.559_561delCAG; p.Q187delQ; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1822C>T; p.R608C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1522G>T; p.A508S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1231C>T; p.Q411*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.224G>A; p.G75D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1483C>T; p.R495C; |
breast | carcinoma |
c.138G>A; p.L46L; |
breast | carcinoma |
c.690C>T; p.P230P; |
breast | carcinoma |
c.694T>C; p.S232P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.936G>A; p.M312I; |
breast | carcinoma |
c.406G>T; p.G136*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1989G>A; p.K663K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1403-1G>A; p.?; |
urinary_tract; bladder | carcinoma |
c.441C>A; p.T147T; |
urinary_tract; bladder | carcinoma |
c.721C>T; p.Q241*; |
skin | malignant_melanoma |
c.1300C>T; p.H434Y; |
skin | malignant_melanoma |
c.314C>T; p.A105V; |
skin | malignant_melanoma |
c.370C>T; p.P124S; |
skin | malignant_melanoma |
c.274G>A; p.G92R; |
skin | malignant_melanoma |
c.760C>T; p.H254Y; |
skin | malignant_melanoma |
c.1475A>T; p.K492I; |
skin; mucosal | malignant_melanoma |
c.623C>A; p.A208D; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |