| Gene ID | 7076 |
| Symbol | TIMP1 |
| Synonymous | CLGI|EPA|EPO|HCI|TIMP |
| Full name | TIMP metallopeptidase inhibitor 1 |
| Gene description | TIMP-1|collagenase inhibitor|erythroid potentiating activity|erythroid-potentiating activity|fibroblast collagenase inhibitor|metalloproteinase inhibitor 1|tissue inhibitor of metalloproteinases 1 |
| Cytoband | Xp11.3-p11.23 |
| Gene type | protein-coding |
| Synonymous | MIM:305370; HGNC:HGNC:11820; Ensembl:ENSG00000102265; HPRD:02371; Vega:OTTHUMG00000021447 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.305G>A; p.R102H; 23:47585308-47585308 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.261C>T; p.P87P; 23:47585264-47585264 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.250G>A; p.V84I; 23:47585253-47585253 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.476C>T; p.P159L; 23:47586543-47586543 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7C>T; p.P3S; 23:47583422-47583422 |
skin | malignant_melanoma | Substitution - Missense |
c.12T>A; p.F4L; 23:47583427-47583427 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.27T>A; p.S9S; 23:47583442-47583442 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.55G>A; p.A19T; 23:47583470-47583470 |
breast | carcinoma | Substitution - Missense |
c.262G>A; p.A88T; 23:47585265-47585265 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.575G>A; p.R192Q; 23:47586642-47586642 |
skin | malignant_melanoma | Substitution - Missense |
c.233C>T; p.A78V; 23:47585236-47585236 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.125T>A; p.I42N; 23:47584939-47584939 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.221C>T; p.A74V; 23:47585224-47585224 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.258C>A; p.T86T; 23:47585261-47585261 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.278G>A; p.C93Y; 23:47585281-47585281 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.121G>A; p.V41I; 23:47583536-47583536 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.512C>T; p.T171M; 23:47586579-47586579 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |