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mutLBSgeneDB |
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| Gene summary for KLK7 |
 Gene summary |
| Basic gene Info. | Gene symbol | KLK7 |
| Gene name | kallikrein-related peptidase 7 | |
| Synonyms | PRSS6|SCCE|hK7 | |
| Cytomap | UCSC genome browser: 19q13.41 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001243126.1, NM_001207053.1,NM_005046.3,NM_139277.2, | |
| Description | kallikrein 7 (chymotryptic, stratum corneum)kallikrein-7serine protease 6signal proteinstratum corneum chymotryptic enzyme | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604438 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000169035 | ||
| HPRD : 05115 | ||
| Vega : OTTHUMG00000182917 | ||
| Protein | UniProt: P49862 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_KLK7 | |
| BioGPS: 5650 | ||
| Pathway | NCI Pathway Interaction Database: KLK7 | |
| KEGG: KLK7 | ||
| REACTOME: KLK7 | ||
| Pathway Commons: KLK7 | ||
| Context | iHOP: KLK7 | |
| ligand binding site mutation search in PubMed: KLK7 | ||
| UCL Cancer Institute: KLK7 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for KLK7 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | G222 | G222E | SKCM | 2 | T223 | T223P | COAD | 1 | T223 | T223A | COAD | 1 | H109 | Q107K | LUAD | 1 | S205 | G207R | LUAD | 1 | S205,G203 | D204N | OV | 1 | F224,C226 | P225L | SKCM | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for KLK7 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | S205 | D204N | -1.3451716 | G203 | D204N | -1.3451716 | T223 | T223A | -1.0846258 | T223 | T223P | -0.86661226 | G222 | G222E | -0.73255481 | C226 | P225L | -0.61626026 | F224 | P225L | -0.61626026 | H109 | Q107K | -0.54844381 | S205 | G207R | -0.47724939 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for KLK7 from PDB |
| PDB ID | PDB title | PDB structure | 3BSQ | Crystal structure of human kallikrein 7 produced as a secretion protein in E.coli |  |
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| Differential gene expression and gene-gene network for KLK7 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for KLK7 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for KLK7 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB08038 | L-alanyl-N-[(1S,2R)-1-benzyl-2-hydroxypropyl]-L-alaninamide | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of KLK7 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of KLK7 |
| Multiple alignments for P49862 in multiple species |
| LBS | AA sequence | # species | Species |
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