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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:PRSS1-KLK6 (FusionGDB2 ID:68861)

Fusion Gene Summary for PRSS1-KLK6

check button Fusion gene summary
Fusion gene informationFusion gene name: PRSS1-KLK6
Fusion gene ID: 68861
HgeneTgene
Gene symbol

PRSS1

KLK6

Gene ID

136541

5653

Gene nameserine protease 58kallikrein related peptidase 6
SynonymsPRSS1|TRY1|TRYX3|UNQ2540Bssp|Klk7|PRSS18|PRSS9|SP59|hK6
Cytomap

7q34

19q13.41

Type of geneprotein-codingprotein-coding
Descriptionserine protease 58protease, serine 58trypsin-X3kallikrein-6kallikrein 6neurosinprotease Mserine protease 18serine protease 9zyme
Modification date2020031320200313
UniProtAcc.

Q92876

Ensembl transtripts involved in fusion geneENST00000486171, ENST00000311737, 
ENST00000376851, ENST00000310157, 
ENST00000391808, ENST00000456750, 
ENST00000376853, ENST00000594641, 
ENST00000424910, 
Fusion gene scores* DoF score11 X 16 X 5=8805 X 3 X 4=60
# samples 147
** MAII scorelog2(14/880*10)=-2.65207669657969
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/60*10)=0.222392421336448
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PRSS1 [Title/Abstract] AND KLK6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPRSS1(142481912)-KLK6(51462572), # samples:7
Anticipated loss of major functional domain due to fusion event.PRSS1-KLK6 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
PRSS1-KLK6 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
PRSS1-KLK6 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
PRSS1-KLK6 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneKLK6

GO:0045745

positive regulation of G protein-coupled receptor signaling pathway

16885167


check buttonFusion gene breakpoints across PRSS1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across KLK6 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-IN-A6RL-01APRSS1chr7

142481912

+KLK6chr19

51462572

-
ChimerDB4STADTCGA-VQ-A94O-01APRSS1chr7

142481912

+KLK6chr19

51462572

-
ChimerDB4STADTCGA-BR-A4PF-01APRSS1chr7

142481912

+KLK6chr19

51462572

-
ChimerDB4STADTCGA-IN-A6RS-01APRSS1chr7

142460418

+KLK6chr19

51462572

-
ChimerDB4STADTCGA-IN-A6RS-01APRSS1chr7

142481912

+KLK6chr19

51462572

-
ChimerDB4STADTCGA-VQ-AA6D-01APRSS1chr7

142481912

+KLK6chr19

51462572

-
ChimerDB4THCATCGA-EM-A3AN-01APRSS1chr7

142481912

+KLK6chr19

51462572

-
ChimerDB4THCATCGA-EM-A3AN-01APRSS1chr7

142471340

+KLK6chr19

51462572

-
ChimerDB4THCATCGA-FE-A238-01APRSS1chr7

142481912

+KLK6chr19

51462572

-
ChimerDB4THCATCGA-FE-A238-01APRSS1chr7

142471340

+KLK6chr19

51462572

-


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Fusion Gene ORF analysis for PRSS1-KLK6

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000486171ENST00000376851PRSS1chr7

142481912

+KLK6chr19

51462572

-
intron-3CDSENST00000486171ENST00000310157PRSS1chr7

142481912

+KLK6chr19

51462572

-
intron-3CDSENST00000486171ENST00000391808PRSS1chr7

142481912

+KLK6chr19

51462572

-
intron-3CDSENST00000486171ENST00000456750PRSS1chr7

142481912

+KLK6chr19

51462572

-
intron-3CDSENST00000486171ENST00000376853PRSS1chr7

142481912

+KLK6chr19

51462572

-
intron-3CDSENST00000486171ENST00000594641PRSS1chr7

142481912

+KLK6chr19

51462572

-
intron-intronENST00000486171ENST00000424910PRSS1chr7

142481912

+KLK6chr19

51462572

-
intron-3CDSENST00000311737ENST00000376851PRSS1chr7

142481912

+KLK6chr19

51462572

-
intron-3CDSENST00000311737ENST00000310157PRSS1chr7

142481912

+KLK6chr19

51462572

-
intron-3CDSENST00000311737ENST00000391808PRSS1chr7

142481912

+KLK6chr19

51462572

-
intron-3CDSENST00000311737ENST00000456750PRSS1chr7

142481912

+KLK6chr19

51462572

-
intron-3CDSENST00000311737ENST00000376853PRSS1chr7

142481912

+KLK6chr19

51462572

-
intron-3CDSENST00000311737ENST00000594641PRSS1chr7

142481912

+KLK6chr19

51462572

-
intron-intronENST00000311737ENST00000424910PRSS1chr7

142481912

+KLK6chr19

51462572

-
Frame-shiftENST00000486171ENST00000376851PRSS1chr7

142460418

+KLK6chr19

51462572

-
Frame-shiftENST00000486171ENST00000310157PRSS1chr7

142460418

+KLK6chr19

51462572

-
Frame-shiftENST00000486171ENST00000391808PRSS1chr7

142460418

+KLK6chr19

51462572

-
Frame-shiftENST00000486171ENST00000456750PRSS1chr7

142460418

+KLK6chr19

51462572

-
Frame-shiftENST00000486171ENST00000376853PRSS1chr7

142460418

+KLK6chr19

51462572

-
In-frameENST00000486171ENST00000594641PRSS1chr7

142460418

+KLK6chr19

51462572

-
5CDS-intronENST00000486171ENST00000424910PRSS1chr7

142460418

+KLK6chr19

51462572

-
Frame-shiftENST00000311737ENST00000376851PRSS1chr7

142460418

+KLK6chr19

51462572

-
Frame-shiftENST00000311737ENST00000310157PRSS1chr7

142460418

+KLK6chr19

51462572

-
Frame-shiftENST00000311737ENST00000391808PRSS1chr7

142460418

+KLK6chr19

51462572

-
Frame-shiftENST00000311737ENST00000456750PRSS1chr7

142460418

+KLK6chr19

51462572

-
Frame-shiftENST00000311737ENST00000376853PRSS1chr7

142460418

+KLK6chr19

51462572

-
In-frameENST00000311737ENST00000594641PRSS1chr7

142460418

+KLK6chr19

51462572

-
5CDS-intronENST00000311737ENST00000424910PRSS1chr7

142460418

+KLK6chr19

51462572

-
intron-3CDSENST00000486171ENST00000376851PRSS1chr7

142471340

+KLK6chr19

51462572

-
intron-3CDSENST00000486171ENST00000310157PRSS1chr7

142471340

+KLK6chr19

51462572

-
intron-3CDSENST00000486171ENST00000391808PRSS1chr7

142471340

+KLK6chr19

51462572

-
intron-3CDSENST00000486171ENST00000456750PRSS1chr7

142471340

+KLK6chr19

51462572

-
intron-3CDSENST00000486171ENST00000376853PRSS1chr7

142471340

+KLK6chr19

51462572

-
intron-3CDSENST00000486171ENST00000594641PRSS1chr7

142471340

+KLK6chr19

51462572

-
intron-intronENST00000486171ENST00000424910PRSS1chr7

142471340

+KLK6chr19

51462572

-
intron-3CDSENST00000311737ENST00000376851PRSS1chr7

142471340

+KLK6chr19

51462572

-
intron-3CDSENST00000311737ENST00000310157PRSS1chr7

142471340

+KLK6chr19

51462572

-
intron-3CDSENST00000311737ENST00000391808PRSS1chr7

142471340

+KLK6chr19

51462572

-
intron-3CDSENST00000311737ENST00000456750PRSS1chr7

142471340

+KLK6chr19

51462572

-
intron-3CDSENST00000311737ENST00000376853PRSS1chr7

142471340

+KLK6chr19

51462572

-
intron-3CDSENST00000311737ENST00000594641PRSS1chr7

142471340

+KLK6chr19

51462572

-
intron-intronENST00000311737ENST00000424910PRSS1chr7

142471340

+KLK6chr19

51462572

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000486171PRSS1chr7142460418+ENST00000594641KLK6chr1951462572-81865017802261
ENST00000311737PRSS1chr7142460418+ENST00000594641KLK6chr1951462572-7655976749247

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000486171ENST00000594641PRSS1chr7142460418+KLK6chr1951462572-0.0012819810.998718
ENST00000311737ENST00000594641PRSS1chr7142460418+KLK6chr1951462572-0.0017531480.9982469

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Fusion Genomic Features for PRSS1-KLK6


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for PRSS1-KLK6


check button Go to

FGviewer for the breakpoints of chr7:142460418-chr19:51462572

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.KLK6

Q92876

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Serine protease which exhibits a preference for Arg over Lys in the substrate P1 position and for Ser or Pro in the P2 position. Shows activity against amyloid precursor protein, myelin basic protein, gelatin, casein and extracellular matrix proteins such as fibronectin, laminin, vitronectin and collagen. Degrades alpha-synuclein and prevents its polymerization, indicating that it may be involved in the pathogenesis of Parkinson disease and other synucleinopathies. May be involved in regulation of axon outgrowth following spinal cord injury. Tumor cells treated with a neutralizing 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}.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneKLK6chr7:142460418chr19:51462572ENST000004249100222_242041.0DomainPeptidase S1

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePRSS1chr7:142460418chr19:51462572ENST00000311737+4524_244197.0248.0DomainPeptidase S1
TgeneKLK6chr7:142460418chr19:51462572ENST000003101575722_242194.0245.0DomainPeptidase S1
TgeneKLK6chr7:142460418chr19:51462572ENST000003768514622_242194.0245.0DomainPeptidase S1
TgeneKLK6chr7:142460418chr19:51462572ENST000003918083522_24287.0138.0DomainPeptidase S1
TgeneKLK6chr7:142460418chr19:51462572ENST000004567501322_24287.0138.0DomainPeptidase S1
TgeneKLK6chr7:142460418chr19:51462572ENST000005946413522_242194.0245.0DomainPeptidase S1


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Fusion Gene Sequence for PRSS1-KLK6


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000486171_ENST00000594641_TCGA-IN-A6RS-01A_PRSS1_chr7_142460418_+_KLK6_chr19_51462572_length(transcript)=818nt_BP=650nt
AGGCACACTCTACCACCATGAATCCACTCCTGATCCTTACCTTTGTGGCAGCTGCTCTTGCTGCCCCCTTTGATGATGATGACAAGATCG
TTGGGGGCTACAACTGTGAGGAGAATTCTGTCCCCTACCAGGTGTCCCTGAATTCTGGCTACCACTTCTGTGGTGGCTCCCTCATCAACG
AACAGTGGGTGGTATCAGCAGGCCACTGCTACAAGTCGGCAATTAAGTCAAAATTTTCAGGAAGAGGGTGTGAATATCACCGCATCCAGG
TGAGACTGGGAGAGCACAACATCGAAGTCCTGGAGGGGAATGAGCAGTTCATCAATGCAGCCAAGATCATCCGCCACCCCCAATACGACA
GGAAGACTCTGAACAATGACATCATGTTAATCAAGCTCTCCTCACGTGCAGTAATCAACGCCCGCGTGTCCACCATCTCTCTGCCCACCG
CCCCTCCAGCCACTGGCACGAAGTGCCTCATCTCTGGCTGGGGCAACACTGCGAGCTCTGGCGCCGACTACCCAGACGAGCTGCAGTGCC
TGGATGCTCCTGTGCTGAGCCAGGCTAAGTGTGAAGCCTCCTACCCTGGAAAGATTACCAGCAACATGTTCTGTGTGGGCTTCCTTGAGG
GAGGCAAGGATTCATGTCAGGGTGATTCTGGGGGTCCGCTGGTATGTGGAGACCACCTCCGAGGCCTTGTGTCATGGGGTAACATCCCCT
GTGGATCAAAGGAGAAGCCAGGAGTCTACACCAACGTCTGCAGATACACGAACTGGATCCAAAAAACCATTCAGGCCAAGTGACCCTGAC

>In-frame_ENST00000486171_ENST00000594641_TCGA-IN-A6RS-01A_PRSS1_chr7_142460418_+_KLK6_chr19_51462572_length(amino acids)=261AA_start in transcript=17_stop in transcript=802
MNPLLILTFVAAALAAPFDDDDKIVGGYNCEENSVPYQVSLNSGYHFCGGSLINEQWVVSAGHCYKSAIKSKFSGRGCEYHRIQVRLGEH
NIEVLEGNEQFINAAKIIRHPQYDRKTLNNDIMLIKLSSRAVINARVSTISLPTAPPATGTKCLISGWGNTASSGADYPDELQCLDAPVL

--------------------------------------------------------------
>In-frame_ENST00000311737_ENST00000594641_TCGA-IN-A6RS-01A_PRSS1_chr7_142460418_+_KLK6_chr19_51462572_length(transcript)=765nt_BP=597nt
ACCACCATGAATCCACTCCTGATCCTTACCTTTGTGGCAGCTGCTCTTGCTGCCCCCTTTGATGATGATGACAAGATCGTTGGGGGCTAC
AACTGTGAGGAGAATTCTGTCCCCTACCAGGTGTCCCTGAATTCTGGCTACCACTTCTGTGGTGGCTCCCTCATCAACGAACAGTGGGTG
GTATCAGCAGGCCACTGCTACAAGTCCCGCATCCAGGTGAGACTGGGAGAGCACAACATCGAAGTCCTGGAGGGGAATGAGCAGTTCATC
AATGCAGCCAAGATCATCCGCCACCCCCAATACGACAGGAAGACTCTGAACAATGACATCATGTTAATCAAGCTCTCCTCACGTGCAGTA
ATCAACGCCCGCGTGTCCACCATCTCTCTGCCCACCGCCCCTCCAGCCACTGGCACGAAGTGCCTCATCTCTGGCTGGGGCAACACTGCG
AGCTCTGGCGCCGACTACCCAGACGAGCTGCAGTGCCTGGATGCTCCTGTGCTGAGCCAGGCTAAGTGTGAAGCCTCCTACCCTGGAAAG
ATTACCAGCAACATGTTCTGTGTGGGCTTCCTTGAGGGAGGCAAGGATTCATGTCAGGGTGATTCTGGGGGTCCGCTGGTATGTGGAGAC
CACCTCCGAGGCCTTGTGTCATGGGGTAACATCCCCTGTGGATCAAAGGAGAAGCCAGGAGTCTACACCAACGTCTGCAGATACACGAAC

>In-frame_ENST00000311737_ENST00000594641_TCGA-IN-A6RS-01A_PRSS1_chr7_142460418_+_KLK6_chr19_51462572_length(amino acids)=247AA_start in transcript=6_stop in transcript=749
MNPLLILTFVAAALAAPFDDDDKIVGGYNCEENSVPYQVSLNSGYHFCGGSLINEQWVVSAGHCYKSRIQVRLGEHNIEVLEGNEQFINA
AKIIRHPQYDRKTLNNDIMLIKLSSRAVINARVSTISLPTAPPATGTKCLISGWGNTASSGADYPDELQCLDAPVLSQAKCEASYPGKIT

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Fusion Gene PPI Analysis for PRSS1-KLK6


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for PRSS1-KLK6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for PRSS1-KLK6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePRSS1C0238339Hereditary pancreatitis13CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgenePRSS1C0267937Acute recurrent pancreatitis2ORPHANET
HgenePRSS1C0030305Pancreatitis1CTD_human
HgenePRSS1C0149521Pancreatitis, Chronic1CTD_human
HgenePRSS1C4080064Autosomal Dominant Hereditary Pancreatitis1CTD_human