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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:KLK3-SZT2 (FusionGDB2 ID:42903)

Fusion Gene Summary for KLK3-SZT2

check button Fusion gene summary
Fusion gene informationFusion gene name: KLK3-SZT2
Fusion gene ID: 42903
HgeneTgene
Gene symbol

KLK3

SZT2

Gene ID

3818

23334

Gene namekallikrein B1SZT2 subunit of KICSTOR complex
SynonymsKLK3|PKK|PKKD|PPKC1orf84|EIEE18|KIAA0467|SZT2A|SZT2B
Cytomap

4q35.2

1p34.2

Type of geneprotein-codingprotein-coding
Descriptionplasma kallikreinkallikrein B, plasma (Fletcher factor) 1kininogeninplasma prekallikreinKICSTOR complex protein SZT2SZT2 subunit KICSTOR complexSZT2, KICSTOR complex subunitseizure threshold 2 protein homolog
Modification date2020032020200313
UniProtAcc

P07288

.
Ensembl transtripts involved in fusion geneENST00000326003, ENST00000597483, 
ENST00000593997, ENST00000595952, 
ENST00000360617, 		ENST00000562955, 
ENST00000372442, ENST00000310739, 
ENST00000372450, ENST00000471177, 
Fusion gene scores* DoF score24 X 31 X 2=14887 X 10 X 3=210
# samples 3110
** MAII scorelog2(31/1488*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/210*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KLK3 [Title/Abstract] AND SZT2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKLK3(51359689)-SZT2(43916028), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneKLK3

GO:0031639

plasminogen activation

89876

HgeneKLK3

GO:0051919

positive regulation of fibrinolysis

89876


check buttonFusion gene breakpoints across KLK3 (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 SZT2 (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
ChiTaRS5.0N/ABE840445KLK3chr19

51359689

-SZT2chr1

43916028

+


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Fusion Gene ORF analysis for KLK3-SZT2

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-3CDSENST00000326003ENST00000562955KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-3CDSENST00000326003ENST00000372442KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-intronENST00000326003ENST00000310739KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-intronENST00000326003ENST00000372450KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-intronENST00000326003ENST00000471177KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-3CDSENST00000597483ENST00000562955KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-3CDSENST00000597483ENST00000372442KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-intronENST00000597483ENST00000310739KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-intronENST00000597483ENST00000372450KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-intronENST00000597483ENST00000471177KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-3CDSENST00000593997ENST00000562955KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-3CDSENST00000593997ENST00000372442KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-intronENST00000593997ENST00000310739KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-intronENST00000593997ENST00000372450KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-intronENST00000593997ENST00000471177KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-3CDSENST00000595952ENST00000562955KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-3CDSENST00000595952ENST00000372442KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-intronENST00000595952ENST00000310739KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-intronENST00000595952ENST00000372450KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-intronENST00000595952ENST00000471177KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-3CDSENST00000360617ENST00000562955KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-3CDSENST00000360617ENST00000372442KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-intronENST00000360617ENST00000310739KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-intronENST00000360617ENST00000372450KLK3chr19

51359689

-SZT2chr1

43916028

+
intron-intronENST00000360617ENST00000471177KLK3chr19

51359689

-SZT2chr1

43916028

+

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)

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

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Fusion Genomic Features for KLK3-SZT2


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 KLK3-SZT2


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
KLK3

P07288

.
FUNCTION: Hydrolyzes semenogelin-1 thus leading to the liquefaction of the seminal coagulum.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.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for KLK3-SZT2


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.

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Fusion Gene PPI Analysis for KLK3-SZT2


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 KLK3-SZT2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneKLK3P07288DB16019Gallium Ga-68 gozetotideBinderSmall moleculeApproved
HgeneKLK3P07288DB16019Gallium Ga-68 gozetotideBinderSmall moleculeApproved
HgeneKLK3P07288DB00834MifepristoneSmall moleculeApproved|Investigational
HgeneKLK3P07288DB00834MifepristoneSmall moleculeApproved|Investigational
HgeneKLK3P07288DB04839Cyproterone acetateSmall moleculeApproved|Investigational
HgeneKLK3P07288DB04839Cyproterone acetateSmall moleculeApproved|Investigational

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Related Diseases for KLK3-SZT2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKLK3C0033578Prostatic Neoplasms11CTD_human
HgeneKLK3C0376358Malignant neoplasm of prostate11CTD_human
HgeneKLK3C0005001Benign prostatic hypertrophy1CTD_human
HgeneKLK3C0027643Neoplasm Recurrence, Local1CTD_human
HgeneKLK3C0235874Disease Exacerbation1CTD_human
HgeneKLK3C0520477Prostatic Adenoma1CTD_human
HgeneKLK3C1334615Malignant Phyllodes Tumor of Prostate1CTD_human
HgeneKLK3C1704272Benign Prostatic Hyperplasia1CTD_human
HgeneKLK3C1739363Prostatic Hypertrophy1CTD_human
HgeneKLK3C2937421Prostatic Hyperplasia1CTD_human
TgeneSZT2C3809624EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 182CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneSZT2C0424605Developmental delay (disorder)1GENOMICS_ENGLAND
TgeneSZT2C0557874Global developmental delay1GENOMICS_ENGLAND