| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 3251 |
Name | HPRT1 |
Synonymous | HGPRT|HPRT;hypoxanthine phosphoribosyltransferase 1;HPRT1;hypoxanthine phosphoribosyltransferase 1 |
Definition | HGPRTase|hypoxanthine-guanine phosphoribosyltransferase |
Position | Xq26.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for HPRT1 | ||
PCGP somatic mutation [Top] | ||
There is no record for HPRT1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.311G>T; p.S104I; |
lung | carcinoma; small_cell_carcinoma |
c.218A>C; p.K73T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.599G>T; p.R200M; |
lung | carcinoma; adenocarcinoma |
c.137C>T; p.T46I; |
liver | carcinoma |
c.122T>C; p.L41P; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.584A>G; p.Y195C; |
lung | carcinoma; squamous_cell_carcinoma |
c.583T>A; p.Y195N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.143G>A; p.R48H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.480C>T; p.V160V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.222C>A; p.F74L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.282T>C; p.P94P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.260G>T; p.R87I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.460A>C; p.N154H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.480C>T; p.V160V; |
endometrium | carcinoma; endometrioid_carcinoma |