| Gene ID | 79444 |
| Symbol | BIRC7 |
| Synonymous | KIAP|LIVIN|ML-IAP|MLIAP|RNF50 |
| Full name | baculoviral IAP repeat containing 7 |
| Gene description | RING finger protein 50|baculoviral IAP repeat-containing protein 7|kidney inhibitor of apoptosis protein|livin inhibitor of apoptosis|melanoma inhibitor of apoptosis protein |
| Cytoband | 20q13.3 |
| Gene type | protein-coding |
| Synonymous | MIM:605737; HGNC:HGNC:13702; Ensembl:ENSG00000101197; HPRD:05761; Vega:OTTHUMG00000032957 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.697delC; p.P234fs*>65; 20:63239405-63239405 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.207G>T; p.E69D; 20:63236303-63236303 |
breast | carcinoma | Substitution - Missense |
c.180G>A; p.R60R; 20:63236276-63236276 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.171C>G; p.G57G; 20:63236267-63236267 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.180G>A; p.R60R; 20:63236276-63236276 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.797C>T; p.P266L; 20:63239505-63239505 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.349G>T; p.G117C; 20:63236445-63236445 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.526T>G; p.S176A; 20:63238472-63238472 |
skin | malignant_melanoma | Substitution - Missense |
c.190G>C; p.E64Q; 20:63236286-63236286 |
breast | carcinoma | Substitution - Missense |
c.491A>G; p.H164R; 20:63238437-63238437 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.491A>G; p.H164R; 20:63238437-63238437 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.409G>A; p.G137R; 20:63237962-63237962 |
breast | carcinoma | Substitution - Missense |
c.787G>A; p.V263I; 20:63239495-63239495 |
pancreas | carcinoma | Substitution - Missense |
c.264G>A; p.E88E; 20:63236360-63236360 |
pancreas | carcinoma | Substitution - coding silent |
c.169G>T; p.G57C; 20:63236265-63236265 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.852C>T; p.I284I; 20:63239560-63239560 |
skin | malignant_melanoma | Substitution - coding silent |
c.202G>A; p.E68K; 20:63236298-63236298 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.759G>T; p.K253N; 20:63239467-63239467 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.561C>A; p.A187A; 20:63238598-63238598 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.528C>T; p.S176S; 20:63238474-63238474 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.528C>T; p.S176S; 20:63238474-63238474 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.528C>T; p.S176S; 20:63238474-63238474 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.418C>T; p.P140S; 20:63237971-63237971 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.386G>A; p.G129E; 20:63237939-63237939 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.681G>T; p.A227A; 20:63239389-63239389 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.843G>T; p.L281L; 20:63239551-63239551 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.111C>T; p.S37S; 20:63236207-63236207 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.827C>T; p.A276V; 20:63239535-63239535 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.408C>T; p.R136R; 20:63237961-63237961 |
pancreas | carcinoma | Substitution - coding silent |
c.881G>A; p.R294H; 20:63239589-63239589 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.881G>A; p.R294H; 20:63239589-63239589 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.306G>C; p.E102D; 20:63236402-63236402 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.768G>A; p.L256L; 20:63239476-63239476 |
skin | malignant_melanoma | Substitution - coding silent |
c.143G>A; p.W48*; 20:63236239-63236239 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.511T>A; p.S171T; 20:63238457-63238457 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.772C>T; p.R258C; 20:63239480-63239480 |
lung | carcinoma; undifferentiated_carcinoma | Substitution - Missense |
c.211G>A; p.A71T; 20:63236307-63236307 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.411G>T; p.G137G; 20:63237964-63237964 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.667G>C; p.E223Q; 20:63239375-63239375 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.667G>C; p.E223Q; 20:63239375-63239375 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.667G>C; p.E223Q; 20:63239375-63239375 |
breast | carcinoma | Substitution - Missense |
c.77C>G; p.T26R; 20:63236173-63236173 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.551A>G; p.E184G; 20:63238588-63238588 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.840G>A; p.Q280Q; 20:63239548-63239548 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.304G>C; p.E102Q; 20:63236400-63236400 |
ovary | other; neoplasm | Substitution - Missense |
c.868C>T; p.R290C; 20:63239576-63239576 |
skin | malignant_melanoma | Substitution - Missense |
c.865G>A; p.V289I; 20:63239573-63239573 |
ovary | other; neoplasm | Substitution - Missense |
c.875G>C; p.R292P; 20:63239583-63239583 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.224T>C; p.L75S; 20:63236320-63236320 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.680C>T; p.A227V; 20:63239388-63239388 |
liver | carcinoma | Substitution - Missense |
c.730C>T; p.R244W; 20:63239438-63239438 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.468G>T; p.R156R; 20:63238414-63238414 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.407G>A; p.R136H; 20:63237960-63237960 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.415G>A; p.D139N; 20:63237968-63237968 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.894C>T; p.S298S; 20:63239602-63239602 |
skin | malignant_melanoma | Substitution - coding silent |
c.384T>C; p.Y128Y; 20:63237937-63237937 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.796C>T; p.P266S; 20:63239504-63239504 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.796C>T; p.P266S; 20:63239504-63239504 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.877G>A; p.V293M; 20:63239585-63239585 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.85C>T; p.R29C; 20:63236181-63236181 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.92G>A; p.G31E; 20:63236188-63236188 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.675G>T; p.Q225H; 20:63239383-63239383 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.820G>A; p.E274K; 20:63239528-63239528 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |