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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:PASK-DYSF (FusionGDB2 ID:62499)

Fusion Gene Summary for PASK-DYSF

check button Fusion gene summary
Fusion gene informationFusion gene name: PASK-DYSF
Fusion gene ID: 62499
HgeneTgene
Gene symbol

PASK

DYSF

Gene ID

27347

8291

Gene nameserine/threonine kinase 39dysferlin
SynonymsDCHT|PASK|SPAKFER1L1|LGMD2B|LGMDR2|MMD1
Cytomap

2q24.3

2p13.2

Type of geneprotein-codingprotein-coding
DescriptionSTE20/SPS1-related proline-alanine-rich protein kinaseSTE20/SPS1 homologSte20-like protein kinaseproline-alanine-rich STE20-related kinaseserine threonine kinase 39 (STE20/SPS1 homolog, yeast)serine/threonine-protein kinase 39small intestine SPAK-lidysferlindystrophy-associated fer-1-like 1fer-1-like family member 1fer-1-like protein 1limb girdle muscular dystrophy 2B (autosomal recessive)
Modification date2020031320200328
UniProtAcc.

O75923

Ensembl transtripts involved in fusion geneENST00000234040, ENST00000544142, 
ENST00000405260, ENST00000358649, 
ENST00000539818, ENST00000475666, 
ENST00000403638, 		ENST00000429174, 
ENST00000409762, ENST00000413539, 
ENST00000409582, ENST00000258104, 
ENST00000410020, ENST00000409744, 
ENST00000409651, ENST00000410041, 
ENST00000409366, ENST00000394120, 
ENST00000479049, 
Fusion gene scores* DoF score3 X 3 X 3=276 X 6 X 4=144
# samples 36
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PASK [Title/Abstract] AND DYSF [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPASK(242046767)-DYSF(71908130), # samples:1
Anticipated loss of major functional domain due to fusion event.PASK-DYSF seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
PASK-DYSF seems lost the major protein functional domain in Hgene 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
HgenePASK

GO:0018105

peptidyl-serine phosphorylation

24393035

HgenePASK

GO:0018107

peptidyl-threonine phosphorylation

24393035

HgenePASK

GO:0023014

signal transduction by protein phosphorylation

24393035

HgenePASK

GO:0035556

intracellular signal transduction

24393035

HgenePASK

GO:1901017

negative regulation of potassium ion transmembrane transporter activity

24393035

HgenePASK

GO:1901380

negative regulation of potassium ion transmembrane transport

24393035

HgenePASK

GO:1905408

negative regulation of creatine transmembrane transporter activity

25531585

HgenePASK

GO:2000650

negative regulation of sodium ion transmembrane transporter activity

25531585


check buttonFusion gene breakpoints across PASK (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 DYSF (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-VQ-AA69PASKchr2

242046767

-DYSFchr2

71908130

+


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Fusion Gene ORF analysis for PASK-DYSF

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
Frame-shiftENST00000234040ENST00000429174PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000234040ENST00000409762PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000234040ENST00000413539PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000234040ENST00000409582PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000234040ENST00000258104PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000234040ENST00000410020PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000234040ENST00000409744PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000234040ENST00000409651PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000234040ENST00000410041PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000234040ENST00000409366PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000234040ENST00000394120PASKchr2

242046767

-DYSFchr2

71908130

+
5CDS-3UTRENST00000234040ENST00000479049PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000544142ENST00000429174PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000544142ENST00000409762PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000544142ENST00000413539PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000544142ENST00000409582PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000544142ENST00000258104PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000544142ENST00000410020PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000544142ENST00000409744PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000544142ENST00000409651PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000544142ENST00000410041PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000544142ENST00000409366PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000544142ENST00000394120PASKchr2

242046767

-DYSFchr2

71908130

+
5CDS-3UTRENST00000544142ENST00000479049PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000405260ENST00000429174PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000405260ENST00000409762PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000405260ENST00000413539PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000405260ENST00000409582PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000405260ENST00000258104PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000405260ENST00000410020PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000405260ENST00000409744PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000405260ENST00000409651PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000405260ENST00000410041PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000405260ENST00000409366PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000405260ENST00000394120PASKchr2

242046767

-DYSFchr2

71908130

+
5CDS-3UTRENST00000405260ENST00000479049PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000358649ENST00000429174PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000358649ENST00000409762PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000358649ENST00000413539PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000358649ENST00000409582PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000358649ENST00000258104PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000358649ENST00000410020PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000358649ENST00000409744PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000358649ENST00000409651PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000358649ENST00000410041PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000358649ENST00000409366PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000358649ENST00000394120PASKchr2

242046767

-DYSFchr2

71908130

+
5CDS-3UTRENST00000358649ENST00000479049PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000539818ENST00000429174PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000539818ENST00000409762PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000539818ENST00000413539PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000539818ENST00000409582PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000539818ENST00000258104PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000539818ENST00000410020PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000539818ENST00000409744PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000539818ENST00000409651PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000539818ENST00000410041PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000539818ENST00000409366PASKchr2

242046767

-DYSFchr2

71908130

+
Frame-shiftENST00000539818ENST00000394120PASKchr2

242046767

-DYSFchr2

71908130

+
5CDS-3UTRENST00000539818ENST00000479049PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000475666ENST00000429174PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000475666ENST00000409762PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000475666ENST00000413539PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000475666ENST00000409582PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000475666ENST00000258104PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000475666ENST00000410020PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000475666ENST00000409744PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000475666ENST00000409651PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000475666ENST00000410041PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000475666ENST00000409366PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000475666ENST00000394120PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3UTRENST00000475666ENST00000479049PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000403638ENST00000429174PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000403638ENST00000409762PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000403638ENST00000413539PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000403638ENST00000409582PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000403638ENST00000258104PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000403638ENST00000410020PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000403638ENST00000409744PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000403638ENST00000409651PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000403638ENST00000410041PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000403638ENST00000409366PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3CDSENST00000403638ENST00000394120PASKchr2

242046767

-DYSFchr2

71908130

+
intron-3UTRENST00000403638ENST00000479049PASKchr2

242046767

-DYSFchr2

71908130

+

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 PASK-DYSF


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)
PASKchr2242046767-DYSFchr271908130+0.273143140.7268569
PASKchr2242046767-DYSFchr271908130+0.273143140.7268569

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 PASK-DYSF


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
.DYSF

O75923

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: Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity). {ECO:0000250}.

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 PASK-DYSF


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 PASK-DYSF


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 PASK-DYSF


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 PASK-DYSF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePASKC0004352Autistic Disorder1CTD_human
HgenePASKC2931817Chromosome 2q37 deletion syndrome1CTD_human
TgeneDYSFC4551973Miyoshi Muscular Dystrophy 119CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneDYSFC1850889MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B17CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneDYSFC1847532MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET3CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneDYSFC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneDYSFC0087031Juvenile-Onset Still Disease1CTD_human
TgeneDYSFC1850808Miyoshi myopathy1ORPHANET
TgeneDYSFC3495559Juvenile arthritis1CTD_human
TgeneDYSFC3714758Juvenile psoriatic arthritis1CTD_human
TgeneDYSFC4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
TgeneDYSFC4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human