| Gene ID | 6667 |
| Symbol | SP1 |
| Synonymous | - |
| Full name | Sp1 transcription factor |
| Gene description | specificity protein 1|transcription factor Sp1 |
| Cytoband | 12q13.1 |
| Gene type | protein-coding |
| Synonymous | MIM:189906; HGNC:HGNC:11205; Ensembl:ENSG00000185591; HPRD:01796; Vega:OTTHUMG00000170047 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1740A>T; p.A580A; 12:53406649-53406649 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1493G>A; p.S498N; 12:53383440-53383440 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1159G>C; p.E387Q; 12:53383106-53383106 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.2030_2034delAACGT; p.K677fs*5; 12:53409547-53409551 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1402C>T; p.Q468*; 12:53383349-53383349 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1402C>T; p.Q468*; 12:53383349-53383349 |
skin | malignant_melanoma | Substitution - Nonsense |