| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5081 |
Name | PAX7 |
Synonymous | HUP1|PAX7B|RMS2;paired box 7;PAX7;paired box 7 |
Definition | PAX7 transcriptional factor|paired box homeotic gene 7|paired box protein Pax-7|paired domain gene 7 |
Position | 1p36.13 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for PAX7 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
PAX7_E9_UTR_3; chr1; 19071435 |
SUB; UTR_3; C; C/T; SOMATIC | T-ALL; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1021G>T; p.A341S; |
lung | carcinoma; adenocarcinoma |
c.1374C>T; p.A458A; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.251C>T; p.S84F; |
prostate | carcinoma |
c.616G>A; p.E206K; |
NS | malignant_melanoma |
c.1223C>T; p.P408L; |
NS | malignant_melanoma |
c.616G>A; p.E206K; |
NS | malignant_melanoma |
c.1223C>T; p.P408L; |
NS | malignant_melanoma |
c.464C>T; p.S155L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1222C>T; p.P408S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.417G>T; p.K139N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.778C>T; p.R260C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.585A>C; p.K195N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1012G>T; p.G338W; |
lung | carcinoma; small_cell_carcinoma |
c.1538C>G; p.S513C; |
lung | carcinoma; adenocarcinoma |
c.812G>A; p.R271H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.1068C>T; p.H356H; |
liver | carcinoma |
c.662G>A; p.R221Q; |
oesophagus | carcinoma; adenocarcinoma |
c.1506A>G; p.G502G; |
liver | carcinoma; hepatocellular_carcinoma |
c.1469T>G; p.L490W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.464C>T; p.S155L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.49G>T; p.G17W; |
large_intestine; colon | carcinoma |
c.273G>T; p.Q91H; |
large_intestine; colon | carcinoma |
c.1222C>T; p.P408S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.370G>A; p.E124K; |
skin; leg | malignant_melanoma; superficial_spreading |
c.1420T>C; p.W474R; |
lung | carcinoma; adenocarcinoma |
c.274G>T; p.E92*; |
lung | carcinoma; adenocarcinoma |
c.808G>T; p.A270S; |
lung | carcinoma; adenocarcinoma |
c.267C>A; p.R89R; 1:18833565-18833565 |
lung | carcinoma; non_small_cell_carcinoma |
c.587-4G>A; p.?; |
liver | carcinoma |
c.877C>A; p.P293T; |
lung | carcinoma; small_cell_carcinoma |
c.1212C>T; p.F404F; |
lung | carcinoma; small_cell_carcinoma |
c.1453C>T; p.P485S; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.1281C>T; p.A427A; |
large_intestine; caecum | adenoma |
c.811C>T; p.R271C; |
prostate | adenoma |
c.517G>A; p.A173T; |
endometrium | carcinoma; serous_carcinoma |
c.1389C>A; p.G463G; |
lung | carcinoma; adenocarcinoma |
c.1376G>C; p.G459A; |
lung | carcinoma; squamous_cell_carcinoma |
c.1375G>T; p.G459C; |
lung | carcinoma; squamous_cell_carcinoma |
c.178G>C; p.V60L; 1:18833476-18833476 |
ovary | carcinoma; serous_carcinoma |
c.1476G>T; p.M492I; |
lung | carcinoma; squamous_cell_carcinoma |
c.271C>G; p.Q91E; |
lung | carcinoma; adenocarcinoma |
c.742G>T; p.E248*; |
lung | carcinoma; adenocarcinoma |
c.805C>A; p.R269S; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.663G>C; p.R221R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.740G>T; p.R247L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1387G>T; p.G463C; |
lung | carcinoma; squamous_cell_carcinoma |
c.652C>A; p.R218R; |
lung | carcinoma; squamous_cell_carcinoma |
c.977C>G; p.P326R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1184C>T; p.A395V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.518C>T; p.A173V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1362G>A; p.V454V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.534C>T; p.D178D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1194G>A; p.P398P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.579C>T; p.G193G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.621G>A; p.S207S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.818G>A; p.R273H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.993G>A; p.P331P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.656G>A; p.R219H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1464C>A; p.S488S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.879A>G; p.P293P; |
breast | carcinoma |
c.464C>T; p.S155L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.776C>T; p.A259V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.474C>T; p.R158R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.534C>T; p.D178D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.862C>A; p.L288M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.652C>T; p.R218*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1386C>T; p.Y462Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.901delC; p.Y303fs*64; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.849G>A; p.A283A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.259C>A; p.L87I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.685C>A; p.L229M; |
breast | carcinoma |
c.580G>T; p.D194Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.74T>C; p.F25S; |
skin | malignant_melanoma |
c.146G>A; p.R49Q; |
skin; scalp | carcinoma; squamous_cell_carcinoma |