| Gene ID | 3399 |
| Symbol | ID3 |
| Synonymous | HEIR-1|bHLHb25 |
| Full name | inhibitor of DNA binding 3, dominant negative helix-loop-helix protein |
| Gene description | DNA-binding protein inhibitor ID-3|ID-like protein inhibitor HLH 1R21|class B basic helix-loop-helix protein 25|helix-loop-helix protein HEIR-1|inhibitor of differentiation 3 |
| Cytoband | 1p36.13-p36.12 |
| Gene type | protein-coding |
| Synonymous | MIM:600277; HGNC:HGNC:5362; Ensembl:ENSG00000117318; HPRD:02608; Vega:OTTHUMG00000003229 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.173T>A; p.V58D; 1:23559254-23559254 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.173T>A; p.V58D; 1:23559254-23559254 |
haematopoietic_and_lymphoid_tissue; soft_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.127_129delGAC; p.D43delD; 1:23559298-23559300 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - In frame |
c.121C>T; p.L41L; 1:23559306-23559306 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.155G>T; p.R52L; 1:23559272-23559272 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.17C>T; p.P6L; 1:23559410-23559410 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.17C>T; p.P6L; 1:23559410-23559410 |
liver | carcinoma | Substitution - Missense |
c.17C>T; p.P6L; 1:23559410-23559410 |
liver | carcinoma | Substitution - Missense |
c.120G>TG; p.L40fs*26; 1:23559307-23559307 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Complex - frameshift |
c.301-1G>A; p.?; 1:23559020-23559020 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Unknown |
c.227A>G; p.Y76C; 1:23559200-23559200 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.241C>T; p.Q81*; 1:23559186-23559186 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Nonsense |
c.277G>A; p.D93N; 1:23559150-23559150 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.241C>T; p.Q81*; 1:23559186-23559186 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Nonsense |
c.228_229insTAC; p.Y76_I77insY; 1:23559198-23559199 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Insertion - In frame |
c.250C>G; p.L84V; 1:23559177-23559177 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.65T>C; p.L22P; 1:23559362-23559362 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.206delT; p.I69fs*14; 1:23559221-23559221 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Deletion - Frameshift |
c.200T>G; p.V67G; 1:23559227-23559227 |
breast | carcinoma | Substitution - Missense |
c.249C>T; p.V83V; 1:23559178-23559178 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.154C>T; p.R52W; 1:23559273-23559273 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.157G>A; p.E53K; 1:23559270-23559270 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.166C>T; p.P56S; 1:23559261-23559261 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.166C>T; p.P56S; 1:23559261-23559261 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.166C>T; p.P56S; 1:23559261-23559261 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.166C>T; p.P56S; 1:23559261-23559261 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.204A>T; p.E68D; 1:23559223-23559223 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.167C>T; p.P56L; 1:23559260-23559260 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.167C>T; p.P56L; 1:23559260-23559260 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.283C>T; p.P95S; 1:23559144-23559144 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.300G>A; p.Q100Q; 1:23559127-23559127 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - coding silent |
c.188A>G; p.Q63R; 1:23559239-23559239 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.187C>T; p.Q63*; 1:23559240-23559240 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Nonsense |
c.144C>G; p.Y48*; 1:23559283-23559283 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Nonsense |
c.235G>T; p.D79Y; 1:23559192-23559192 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.208C>G; p.L70V; 1:23559219-23559219 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.156G>A; p.R52R; 1:23559271-23559271 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.130A>G; p.M44V; 1:23559297-23559297 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.284C>A; p.P95H; 1:23559143-23559143 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.190C>T; p.L64F; 1:23559237-23559237 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.190C>T; p.L64F; 1:23559237-23559237 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.190C>T; p.L64F; 1:23559237-23559237 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.143_145delACT; p.Y48delY; 1:23559282-23559284 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Deletion - In frame |
c.300+2T>C; p.?; 1:23559125-23559125 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Unknown |