| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 286053 |
Name | NSMCE2 |
Synonymous | non-SMC element 2, MMS21 homolog (S. cerevisiae);NSMCE2;non-SMC element 2, MMS21 homolog (S. cerevisiae) |
Definition | E3 SUMO-protein ligase NSE2|MMS21 homolog|hMMS21|methyl methanesulfonate sensitivity gene 21|non-SMC element 2 homolog|non-structural maintenance of chromosomes element 2 homolog|zinc finger, MIZ-type containing 7 |
Position | 8q24.13 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.68C>T; p.A23V; 8:125102398-125102398 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.98G>A; p.C33Y; 8:125102428-125102428 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.457G>A; p.G153R; 8:125357257-125357257 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.284_285insA; p.I97fs*21; 8:125182122-125182123 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.295G>C; p.D99H; 8:125182133-125182133 |
breast | carcinoma | Substitution - Missense |
c.546T>C; p.N182N; 8:125357738-125357738 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.508C>T; p.P170S; 8:125357308-125357308 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.107C>G; p.S36C; 8:125102437-125102437 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.681G>T; p.Q227H; 8:125366822-125366822 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.158-3C>T; p.?; 8:125151168-125151168 |
liver | carcinoma | Unknown |
c.168_202del35; p.S57fs*49; 8:125151181-125151215 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.176A>G; p.Y59C; 8:125151189-125151189 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.102C>G; p.I34M; 8:125102432-125102432 |
oesophagus | carcinoma | Substitution - Missense |
c.383A>T; p.Q128L; 8:125182221-125182221 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4C>T; p.P2S; 8:125102334-125102334 |
skin | malignant_melanoma | Substitution - Missense |
c.125C>T; p.S42F; 8:125102455-125102455 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.109G>T; p.G37C; 8:125102439-125102439 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.733C>T; p.H245Y; 8:125366874-125366874 |
skin | malignant_melanoma | Substitution - Missense |
c.81G>C; p.L27F; 8:125102411-125102411 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.700G>T; p.A234S; 8:125366841-125366841 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.265-2A>T; p.?; 8:125182101-125182101 |
lung | carcinoma; adenocarcinoma | Unknown |
c.252T>C; p.S84S; 8:125151265-125151265 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.214G>T; p.D72Y; 8:125151227-125151227 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.323T>G; p.F108C; 8:125182161-125182161 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.323T>G; p.F108C; 8:125182161-125182161 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.653C>A; p.T218K; 8:125366794-125366794 |
liver | carcinoma | Substitution - Missense |
c.313G>C; p.E105Q; 8:125182151-125182151 |
breast | carcinoma | Substitution - Missense |
c.571G>C; p.E191Q; 8:125357763-125357763 |
breast | carcinoma | Substitution - Missense |
c.653C>T; p.T218M; 8:125366794-125366794 |
skin | malignant_melanoma | Substitution - Missense |
c.653C>T; p.T218M; 8:125366794-125366794 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.318G>T; p.K106N; 8:125182156-125182156 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.564C>A; p.T188T; 8:125357756-125357756 |
thyroid | other; neoplasm | Substitution - coding silent |
c.562A>T; p.T188S; 8:125357754-125357754 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.32C>T; p.S11L; 8:125102362-125102362 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.610C>T; p.R204W; 8:125357802-125357802 |
liver | carcinoma | Substitution - Missense |
c.610C>T; p.R204W; 8:125357802-125357802 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.610C>T; p.R204W; 8:125357802-125357802 |
liver | carcinoma | Substitution - Missense |
c.487A>T; p.S163C; 8:125357287-125357287 |
thyroid | other; neoplasm | Substitution - Missense |
c.221A>G; p.Q74R; 8:125151234-125151234 |
liver | carcinoma | Substitution - Missense |
c.335A>T; p.Q112L; 8:125182173-125182173 |
oesophagus | carcinoma | Substitution - Missense |
c.630C>T; p.C210C; 8:125366771-125366771 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.318G>A; p.K106K; 8:125182156-125182156 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |