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Fusion gene ID: 19080 |
FusionGeneSummary for KLK6_KLK6 |
Fusion gene summary |
Fusion gene information | Fusion gene name: KLK6_KLK6 | Fusion gene ID: 19080 | Hgene | Tgene | Gene symbol | KLK6 | KLK6 | Gene ID | 5653 | 5653 |
Gene name | kallikrein related peptidase 6 | kallikrein related peptidase 6 | |
Synonyms | Bssp|Klk7|PRSS18|PRSS9|SP59|hK6 | Bssp|Klk7|PRSS18|PRSS9|SP59|hK6 | |
Cytomap | 19q13.41 | 19q13.41 | |
Type of gene | protein-coding | protein-coding | |
Description | kallikrein-6kallikrein 6neurosinprotease Mserine protease 18serine protease 9zyme | kallikrein-6kallikrein 6neurosinprotease Mserine protease 18serine protease 9zyme | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q92876 | Q92876 | |
Ensembl transtripts involved in fusion gene | ENST00000376851, ENST00000310157, ENST00000391808, ENST00000456750, ENST00000376853, ENST00000594641, ENST00000424910, | ENST00000376851, ENST00000310157, ENST00000391808, ENST00000456750, ENST00000376853, ENST00000594641, ENST00000424910, | |
Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 2 X 2 X 1=4 |
# samples | 2 | 2 | |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: KLK6 [Title/Abstract] AND KLK6 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | KLK6 | GO:0045745 | positive regulation of G-protein coupled receptor protein signaling pathway | 16885167 |
Tgene | KLK6 | GO:0045745 | positive regulation of G-protein coupled receptor protein signaling pathway | 16885167 |
Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BQ361291 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-5UTR | ENST00000376851 | ENST00000376851 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000376851 | ENST00000310157 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-5UTR | ENST00000376851 | ENST00000391808 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000376851 | ENST00000456750 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000376851 | ENST00000376853 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000376851 | ENST00000594641 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000376851 | ENST00000424910 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-5UTR | ENST00000310157 | ENST00000376851 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000310157 | ENST00000310157 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-5UTR | ENST00000310157 | ENST00000391808 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000310157 | ENST00000456750 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000310157 | ENST00000376853 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000310157 | ENST00000594641 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000310157 | ENST00000424910 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-5UTR | ENST00000391808 | ENST00000376851 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000391808 | ENST00000310157 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-5UTR | ENST00000391808 | ENST00000391808 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000391808 | ENST00000456750 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000391808 | ENST00000376853 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000391808 | ENST00000594641 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000391808 | ENST00000424910 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-5UTR | ENST00000456750 | ENST00000376851 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000456750 | ENST00000310157 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-5UTR | ENST00000456750 | ENST00000391808 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000456750 | ENST00000456750 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000456750 | ENST00000376853 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000456750 | ENST00000594641 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000456750 | ENST00000424910 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-5UTR | ENST00000376853 | ENST00000376851 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000376853 | ENST00000310157 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-5UTR | ENST00000376853 | ENST00000391808 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000376853 | ENST00000456750 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000376853 | ENST00000376853 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000376853 | ENST00000594641 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000376853 | ENST00000424910 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-5UTR | ENST00000594641 | ENST00000376851 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000594641 | ENST00000310157 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-5UTR | ENST00000594641 | ENST00000391808 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000594641 | ENST00000456750 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000594641 | ENST00000376853 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000594641 | ENST00000594641 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000594641 | ENST00000424910 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-5UTR | ENST00000424910 | ENST00000376851 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000424910 | ENST00000310157 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-5UTR | ENST00000424910 | ENST00000391808 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000424910 | ENST00000456750 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000424910 | ENST00000376853 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000424910 | ENST00000594641 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
intron-intron | ENST00000424910 | ENST00000424910 | KLK6 | chr19 | 51466577 | + | KLK6 | chr19 | 51472017 | - |
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FusionProtFeatures for KLK6_KLK6 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
KLK6 | KLK6 |
Serine protease which exhibits a preference for Arg overLys in the substrate P1 position and for Ser or Pro in the P2position. Shows activity against amyloid precursor protein, myelinbasic protein, gelatin, casein and extracellular matrix proteinssuch as fibronectin, laminin, vitronectin and collagen. Degradesalpha-synuclein and prevents its polymerization, indicating thatit may be involved in the pathogenesis of Parkinson disease andother synucleinopathies. May be involved in regulation of axonoutgrowth following spinal cord injury. Tumor cells treated with aneutralizing KLK6 antibody migrate less than control cells,suggesting a role in invasion and metastasis.{ECO:0000269|PubMed:11983703, ECO:0000269|PubMed:12878203,ECO:0000269|PubMed:12928483, ECO:0000269|PubMed:15557757,ECO:0000269|PubMed:16321973, ECO:0000269|PubMed:16987227}. | Serine protease which exhibits a preference for Arg overLys in the substrate P1 position and for Ser or Pro in the P2position. Shows activity against amyloid precursor protein, myelinbasic protein, gelatin, casein and extracellular matrix proteinssuch as fibronectin, laminin, vitronectin and collagen. Degradesalpha-synuclein and prevents its polymerization, indicating thatit may be involved in the pathogenesis of Parkinson disease andother synucleinopathies. May be involved in regulation of axonoutgrowth following spinal cord injury. Tumor cells treated with aneutralizing KLK6 antibody migrate less than control cells,suggesting a role in invasion and metastasis.{ECO:0000269|PubMed:11983703, ECO:0000269|PubMed:12878203,ECO:0000269|PubMed:12928483, ECO:0000269|PubMed:15557757,ECO:0000269|PubMed:16321973, ECO:0000269|PubMed:16987227}. |
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for KLK6_KLK6 |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for KLK6_KLK6 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for KLK6_KLK6 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for KLK6_KLK6 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |