| Gene ID | 7079 |
| Symbol | TIMP4 |
| Synonymous | - |
| Full name | TIMP metallopeptidase inhibitor 4 |
| Gene description | TIMP-4|metalloproteinase inhibitor 4|tissue inhibitor of metalloproteinase 4|tissue inhibitor of metalloproteinases 4 |
| Cytoband | 3p25 |
| Gene type | protein-coding |
| Synonymous | MIM:601915; HGNC:HGNC:11823; Ensembl:ENSG00000157150; HPRD:03557; Vega:OTTHUMG00000129763 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.501C>A; p.P167P; 3:12153689-12153689 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.357G>A; p.Q119Q; 3:12154447-12154447 |
liver | carcinoma | Substitution - coding silent |
c.357G>A; p.Q119Q; 3:12154447-12154447 |
liver | carcinoma | Substitution - coding silent |
c.265G>A; p.D89N; 3:12156907-12156907 |
skin | malignant_melanoma | Substitution - Missense |
c.606C>T; p.D202D; 3:12153584-12153584 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.449A>G; p.H150R; 3:12154355-12154355 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.193G>T; p.A65S; 3:12157429-12157429 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.604G>T; p.D202Y; 3:12153586-12153586 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.285G>A; p.T95T; 3:12156887-12156887 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.625C>T; p.R209W; 3:12153565-12153565 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.240G>C; p.M80I; 3:12156932-12156932 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.146G>A; p.R49Q; 3:12157476-12157476 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.411G>T; p.W137C; 3:12154393-12154393 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.17G>A; p.R6Q; 3:12158824-12158824 |
pancreas | carcinoma | Substitution - Missense |
c.550G>T; p.E184*; 3:12153640-12153640 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.177G>A; p.P59P; 3:12157445-12157445 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.237+1G>A; p.?; 3:12157384-12157384 |
skin | malignant_melanoma | Unknown |
c.214C>A; p.R72R; 3:12157408-12157408 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.517C>T; p.P173S; 3:12153673-12153673 |
skin | malignant_melanoma | Substitution - Missense |
c.549G>A; p.L183L; 3:12153641-12153641 |
skin | malignant_melanoma | Substitution - coding silent |
c.432G>A; p.Q144Q; 3:12154372-12154372 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.414G>A; p.E138E; 3:12154390-12154390 |
skin | malignant_melanoma | Substitution - coding silent |
c.99C>T; p.A33A; 3:12158742-12158742 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.663C>T; p.I221I; 3:12153527-12153527 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.648G>A; p.K216K; 3:12153542-12153542 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.513G>T; p.S171S; 3:12153677-12153677 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.187G>T; p.D63Y; 3:12157435-12157435 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.177G>C; p.P59P; 3:12157445-12157445 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.76C>A; p.L26M; 3:12158765-12158765 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.215G>A; p.R72Q; 3:12157407-12157407 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.513G>A; p.S171S; 3:12153677-12153677 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.279C>G; p.I93M; 3:12156893-12156893 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.41T>C; p.L14S; 3:12158800-12158800 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.423C>T; p.S141S; 3:12154381-12154381 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.179C>A; p.A60D; 3:12157443-12157443 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.365G>T; p.S122I; 3:12154439-12154439 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.75_76insG; p.L26fs*3; 3:12158765-12158766 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Insertion - Frameshift |
c.478-1G>A; p.?; 3:12153713-12153713 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.413A>G; p.E138G; 3:12154391-12154391 |
skin | malignant_melanoma | Substitution - Missense |
c.100C>T; p.P34S; 3:12158741-12158741 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.420G>T; p.L140L; 3:12154384-12154384 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.512C>T; p.S171L; 3:12153678-12153678 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.57G>C; p.A19A; 3:12158784-12158784 |
skin | malignant_melanoma | Substitution - coding silent |
c.207A>C; p.K69N; 3:12157415-12157415 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.643A>G; p.R215G; 3:12153547-12153547 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.460C>T; p.L154L; 3:12154344-12154344 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.5C>T; p.P2L; 3:12158836-12158836 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |