| Gene ID | 25898 |
| Symbol | RCHY1 |
| Synonymous | ARNIP|CHIMP|PIRH2|PRO1996|RNF199|ZCHY|ZNF363 |
| Full name | ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase |
| Gene description | CH-rich interacting match with PLAG1|E3 ubiquitin-protein ligase Pirh2|RING finger and CHY zinc finger domain-containing protein 1|RING finger protein 199|androgen-receptor N-terminal-interacting protein|p53-induced protein with a RING-H2 domain|zinc fing |
| Cytoband | 4q21.1 |
| Gene type | protein-coding |
| Synonymous | MIM:607680; HGNC:HGNC:17479; Ensembl:ENSG00000163743; HPRD:07607; Vega:OTTHUMG00000130105 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.661C>A; p.L221I; 4:75482663-75482663 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.483C>T; p.V161V; 4:75491750-75491750 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.585G>T; p.R195S; 4:75490653-75490653 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.225T>G; p.C75W; 4:75508921-75508921 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.292_294delAAG; p.K98delK; 4:75508852-75508854 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.606T>C; p.D202D; 4:75490632-75490632 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.565T>G; p.S189A; 4:75490673-75490673 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.161G>A; p.R54H; 4:75509226-75509226 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.161G>A; p.R54H; 4:75509226-75509226 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.200A>C; p.K67T; 4:75509187-75509187 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.661C>G; p.L221V; 4:75482663-75482663 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.545G>A; p.R182K; 4:75490693-75490693 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.315_316delTG; p.C105fs*4; 4:75508830-75508831 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.53G>A; p.R18Q; 4:75514234-75514234 |
breast | carcinoma | Substitution - Missense |
c.640C>G; p.Q214E; 4:75490598-75490598 |
breast | carcinoma | Substitution - Missense |
c.682C>T; p.R228*; 4:75482642-75482642 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.436C>A; p.P146T; 4:75491903-75491903 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.642G>C; p.Q214H; 4:75490596-75490596 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.202delA; p.I68fs*53; 4:75509185-75509185 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.569C>T; p.A190V; 4:75490669-75490669 |
pancreas | carcinoma | Substitution - Missense |
c.569C>T; p.A190V; 4:75490669-75490669 |
pancreas | NS | Substitution - Missense |
c.681A>G; p.G227G; 4:75482643-75482643 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.21A>G; p.E7E; 4:75514266-75514266 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.238A>G; p.T80A; 4:75508908-75508908 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.709G>A; p.G237S; 4:75482615-75482615 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.151C>T; p.Q51*; 4:75509236-75509236 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.229G>T; p.E77*; 4:75508917-75508917 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.348T>G; p.F116L; 4:75494158-75494158 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.250G>T; p.E84*; 4:75508896-75508896 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.267A>G; p.I89M; 4:75508879-75508879 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |