| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 190 |
Name | NR0B1 |
Synonymous | AHC|AHCH|AHX|DAX-1|DAX1|DSS|GTD|HHG|NROB1|SRXY2;nuclear receptor subfamily 0, group B, member 1;NR0B1;nuclear receptor subfamily 0, group B, member 1 |
Definition | DSS-AHC critical region on the X chromosome protein 1|nuclear hormone receptor|nuclear receptor DAX-1|nuclear receptor DAX1|nuclear receptor subfamily 0 group B member 1 |
Position | Xp21.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for NR0B1 | ||
PCGP somatic mutation [Top] | ||
There is no record for NR0B1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.399C>A; p.C133*; |
meninges | meningioma; secretory |
c.1270G>A; p.D424N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.370C>T; p.R124W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.493G>A; p.A165T; |
pancreas | carcinoma |
c.172C>T; p.R58W; |
breast | carcinoma; ductal_carcinoma |
c.568G>A; p.G190R; |
oesophagus | carcinoma; adenocarcinoma |
c.1005C>T; p.P335P; |
oesophagus | carcinoma; adenocarcinoma |
c.539G>T; p.R180M; |
lung | carcinoma; adenocarcinoma |
c.427G>A; p.G143S; |
lung | carcinoma; adenocarcinoma |
c.277G>C; p.A93P; |
lung | carcinoma; adenocarcinoma |
c.208G>A; p.G70S; |
lung | carcinoma; adenocarcinoma |
c.1069C>A; p.Q357K; |
lung | carcinoma; adenocarcinoma |
c.510G>A; p.A170A; |
lung | carcinoma; adenocarcinoma |
c.1402A>G; p.T468A; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1402A>G; p.T468A; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.479C>A; p.P160Q; |
breast | carcinoma |
c.1165C>T; p.P389S; |
skin; trunk | malignant_melanoma |
c.841G>A; p.D281N; 23:30236561-30236561 |
lung | carcinoma; non_small_cell_carcinoma |
c.1140C>T; p.Y380Y; 23:30236262-30236262 |
ovary | carcinoma; serous_carcinoma |
c.282G>C; p.P94P; |
lung | carcinoma; adenocarcinoma |
c.1273A>T; p.R425*; |
lung | carcinoma; adenocarcinoma |
c.979G>T; p.E327*; |
lung | carcinoma; squamous_cell_carcinoma |
c.296C>A; p.A99E; |
lung | carcinoma; squamous_cell_carcinoma |
c.731G>T; p.R244L; |
lung | carcinoma; squamous_cell_carcinoma |
c.128G>T; p.C43F; |
lung | carcinoma; squamous_cell_carcinoma |
c.1065C>T; p.A355A; |
lung | carcinoma; adenocarcinoma |
c.1387C>A; p.L463M; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.909C>T; p.R303R; |
lung | carcinoma; squamous_cell_carcinoma |
c.475G>T; p.A159S; |
lung | carcinoma; adenocarcinoma |
c.1266C>T; p.P422P; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1047C>A; p.A349A; |
lung | carcinoma; adenocarcinoma |
c.1083C>G; p.I361M; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1171G>T; p.V391L; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.152G>A; p.R51K; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.757G>T; p.V253L; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.373C>A; p.P125T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.523T>A; p.S175T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.324G>A; p.S108S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1175C>T; p.P392L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1282G>A; p.E428K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.275C>T; p.A92V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1370G>A; p.S457N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1292G>A; p.S431N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.996G>T; p.E332D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.202T>C; p.F68L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.681G>A; p.P227P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1282G>A; p.E428K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1253C>T; p.T418M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1135G>A; p.A379T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1093C>A; p.L365I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1282G>A; p.E428K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.918C>T; p.F306F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.572G>T; p.R191L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.620C>T; p.P207L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1253C>T; p.T418M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.653C>T; p.T218M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.689G>A; p.R230Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.274G>A; p.A92T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.181G>C; p.A61P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.181G>T; p.A61S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.424C>A; p.Q142K; |
skin; ear | carcinoma; squamous_cell_carcinoma |