| Gene ID | 27113 |
| Symbol | BBC3 |
| Synonymous | JFY-1|JFY1|PUMA |
| Full name | BCL2 binding component 3 |
| Gene description | bcl-2-binding component 3|p53 up-regulated modulator of apoptosis |
| Cytoband | 19q13.3-q13.4 |
| Gene type | protein-coding |
| Synonymous | MIM:605854; HGNC:HGNC:17868; Ensembl:ENSG00000105327; HPRD:16165; Vega:OTTHUMG00000183489 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.494C>T; p.P165L; 19:47221890-47221890 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.456C>G; p.Y152*; 19:47226573-47226573 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Nonsense |
c.491G>A; p.R164H; 19:47221893-47221893 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.582G>T; p.*194Y; 19:47221802-47221802 |
endometrium | carcinoma; endometrioid_carcinoma | Nonstop extension |
c.154A>C; p.T52P; 19:47228278-47228278 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.465+2T>G; p.?; 19:47226562-47226562 |
eye; uveal_tract | malignant_melanoma; mixed | Unknown |
c.559G>A; p.A187T; 19:47221825-47221825 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.553C>T; p.H185Y; 19:47221831-47221831 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.544C>T; p.P182S; 19:47221840-47221840 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.486G>A; p.R162R; 19:47221898-47221898 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.518A>G; p.N173S; 19:47221866-47221866 |
breast | carcinoma | Substitution - Missense |
c.1A>C; p.M1L; 19:47228431-47228431 |
thyroid | other; neoplasm | Substitution - Missense |
c.564C>T; p.P188P; 19:47221820-47221820 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4G>T; p.A2S; 19:47228428-47228428 |
thyroid | other; neoplasm | Substitution - Missense |
c.536T>C; p.L179P; 19:47221848-47221848 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.480G>A; p.Q160Q; 19:47221904-47221904 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |