| Gene ID | 5650 |
| Symbol | KLK7 |
| Synonymous | PRSS6|SCCE|hK7 |
| Full name | kallikrein-related peptidase 7 |
| Gene description | kallikrein 7 (chymotryptic, stratum corneum)|kallikrein-7|serine protease 6|signal protein|stratum corneum chymotryptic enzyme |
| Cytoband | 19q13.41 |
| Gene type | protein-coding |
| Synonymous | MIM:604438; HGNC:HGNC:6368; Ensembl:ENSG00000169035; HPRD:05115; Vega:OTTHUMG00000182917 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.323C>A; p.T108N; 19:50980386-50980386 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.323C>A; p.T108N; 19:50980386-50980386 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.323C>A; p.T108N; 19:50980386-50980386 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.323C>A; p.T108N; 19:50980386-50980386 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.337C>A; p.L113I; 19:50980372-50980372 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.418C>T; p.P140S; 19:50980291-50980291 |
skin | malignant_melanoma | Substitution - Missense |
c.418C>T; p.P140S; 19:50980291-50980291 |
skin | malignant_melanoma | Substitution - Missense |
c.377C>T; p.S126F; 19:50980332-50980332 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.290A>C; p.K97T; 19:50980419-50980419 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.290A>C; p.K97T; 19:50980419-50980419 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.610G>A; p.D204N; 19:50977688-50977688 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.99C>T; p.G33G; 19:50981889-50981889 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.681C>G; p.G227G; 19:50977617-50977617 |
breast | carcinoma | Substitution - coding silent |
c.319C>A; p.Q107K; 19:50980390-50980390 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.567G>C; p.L189L; 19:50979827-50979827 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.549A>T; p.L183F; 19:50979845-50979845 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.78G>T; p.Q26H; 19:50981910-50981910 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.619G>A; p.G207R; 19:50977679-50977679 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.98G>A; p.G33D; 19:50981890-50981890 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.298C>T; p.R100C; 19:50980411-50980411 |
skin | malignant_melanoma | Substitution - Missense |
c.298C>T; p.R100C; 19:50980411-50980411 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.24C>T; p.P8P; 19:50982376-50982376 |
skin | malignant_melanoma | Substitution - coding silent |
c.441C>T; p.S147S; 19:50980268-50980268 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.714G>C; p.V238V; 19:50977584-50977584 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.678C>T; p.C226C; 19:50977620-50977620 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.393C>T; p.V131V; 19:50980316-50980316 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.678C>T; p.C226C; 19:50977620-50977620 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.522G>T; p.Q174H; 19:50979872-50979872 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.530C>T; p.T177M; 19:50979864-50979864 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.12C>A; p.S4S; 19:50982388-50982388 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - coding silent |
c.530C>T; p.T177M; 19:50979864-50979864 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.231C>T; p.T77T; 19:50980478-50980478 |
skin | malignant_melanoma | Substitution - coding silent |
c.667A>C; p.T223P; 19:50977631-50977631 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.74-1G>A; p.?; 19:50981915-50981915 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Unknown |
c.747G>A; p.M249I; 19:50977551-50977551 |
skin | malignant_melanoma | Substitution - Missense |
c.560C>T; p.S187F; 19:50979834-50979834 |
skin | malignant_melanoma | Substitution - Missense |
c.523G>T; p.D175Y; 19:50979871-50979871 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.305C>A; p.P102H; 19:50980404-50980404 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.579_580CC>TT; p.P194S; 19:50979814-50979815 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.304C>G; p.P102A; 19:50980405-50980405 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>T; p.V157L; 19:50980240-50980240 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.411C>T; p.C137C; 19:50980298-50980298 |
liver | carcinoma | Substitution - coding silent |
c.34T>C; p.L12L; 19:50982366-50982366 |
thyroid | other; neoplasm | Substitution - coding silent |
c.251C>T; p.T84M; 19:50980458-50980458 |
breast | carcinoma | Substitution - Missense |
c.716G>A; p.C239Y; 19:50977582-50977582 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.166G>T; p.G56*; 19:50981822-50981822 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.205G>T; p.A69S; 19:50981783-50981783 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.697G>A; p.G233R; 19:50977601-50977601 |
prostate | carcinoma | Substitution - Missense |
c.512_513TC>AT; p.I171N; 19:50979881-50979882 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.405C>A; p.S135S; 19:50980304-50980304 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.287C>T; p.S96L; 19:50980422-50980422 |
skin | malignant_melanoma | Substitution - Missense |
c.543G>T; p.K181N; 19:50979851-50979851 |
pancreas | carcinoma | Substitution - Missense |
c.543G>T; p.K181N; 19:50979851-50979851 |
pancreas | carcinoma | Substitution - Missense |
c.674C>T; p.P225L; 19:50977624-50977624 |
skin | malignant_melanoma | Substitution - Missense |
c.559T>G; p.S187A; 19:50979835-50979835 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.665G>A; p.G222E; 19:50977633-50977633 |
skin | malignant_melanoma | Substitution - Missense |
c.665G>A; p.G222E; 19:50977633-50977633 |
skin | malignant_melanoma | Substitution - Missense |
c.531G>A; p.T177T; 19:50979863-50979863 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.208C>T; p.H70Y; 19:50981780-50981780 |
liver | carcinoma | Substitution - Missense |
c.323C>T; p.T108I; 19:50980386-50980386 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.650G>A; p.G217D; 19:50977648-50977648 |
NS | malignant_melanoma | Substitution - Missense |
c.752delA; p.K251fs*>3; 19:50977546-50977546 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.640A>G; p.T214A; 19:50977658-50977658 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.716G>T; p.C239F; 19:50977582-50977582 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.694C>A; p.P232T; 19:50977604-50977604 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.422G>A; p.G141E; 19:50980287-50980287 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.633C>A; p.C211*; 19:50977665-50977665 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.345C>G; p.L115L; 19:50980364-50980364 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.646C>T; p.Q216*; 19:50977652-50977652 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Substitution - Nonsense |
c.646C>T; p.Q216*; 19:50977652-50977652 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.673C>T; p.P225S; 19:50977625-50977625 |
skin | malignant_melanoma | Substitution - Missense |
c.597C>T; p.N199N; 19:50979797-50979797 |
endometrium | carcinoma; serous_carcinoma | Substitution - coding silent |