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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:CSGALNACT1-DYSF (FusionGDB2 ID:19695)

Fusion Gene Summary for CSGALNACT1-DYSF

check button Fusion gene summary
Fusion gene informationFusion gene name: CSGALNACT1-DYSF
Fusion gene ID: 19695
HgeneTgene
Gene symbol

CSGALNACT1

DYSF

Gene ID

55790

8291

Gene namechondroitin sulfate N-acetylgalactosaminyltransferase 1dysferlin
SynonymsCSGalNAcT-1|ChGn|ChGn-1|beta4GalNAcTFER1L1|LGMD2B|LGMDR2|MMD1
Cytomap

8p21.3

2p13.2

Type of geneprotein-codingprotein-coding
Descriptionchondroitin sulfate N-acetylgalactosaminyltransferase 1beta4GalNAcT-1chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1chondroitin beta1,4 N-acetylgalactosaminyltransferaseglucuronylgalactosylproteoglycan 4-beta-N- acetylgalactosaminyltransferasdysferlindystrophy-associated fer-1-like 1fer-1-like family member 1fer-1-like protein 1limb girdle muscular dystrophy 2B (autosomal recessive)
Modification date2020031320200328
UniProtAcc

Q8TDX6

O75923

Ensembl transtripts involved in fusion geneENST00000311540, ENST00000332246, 
ENST00000454498, ENST00000522854, 
ENST00000544602, ENST00000518542, 
ENST00000258104, ENST00000394120, 
ENST00000409366, ENST00000409582, 
ENST00000409651, ENST00000409744, 
ENST00000409762, ENST00000410020, 
ENST00000410041, ENST00000413539, 
ENST00000429174, ENST00000479049, 
Fusion gene scores* DoF score8 X 10 X 4=3206 X 6 X 4=144
# samples 106
** MAII scorelog2(10/320*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
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: CSGALNACT1 [Title/Abstract] AND DYSF [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCSGALNACT1(19459281)-DYSF(71906186), # 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
HgeneCSGALNACT1

GO:0019276

UDP-N-acetylgalactosamine metabolic process

11514575

HgeneCSGALNACT1

GO:0030206

chondroitin sulfate biosynthetic process

11514575|12163485

HgeneCSGALNACT1

GO:0046398

UDP-glucuronate metabolic process

11514575

HgeneCSGALNACT1

GO:0050653

chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

12163485


check buttonFusion gene breakpoints across CSGALNACT1 (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-RD-A8MWCSGALNACT1chr8

19459281

-DYSFchr2

71906186

+


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Fusion Gene ORF analysis for CSGALNACT1-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
5UTR-3CDSENST00000311540ENST00000258104CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000311540ENST00000394120CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000311540ENST00000409366CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000311540ENST00000409582CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000311540ENST00000409651CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000311540ENST00000409744CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000311540ENST00000409762CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000311540ENST00000410020CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000311540ENST00000410041CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000311540ENST00000413539CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000311540ENST00000429174CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000332246ENST00000258104CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000332246ENST00000394120CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000332246ENST00000409366CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000332246ENST00000409582CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000332246ENST00000409651CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000332246ENST00000409744CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000332246ENST00000409762CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000332246ENST00000410020CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000332246ENST00000410041CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000332246ENST00000413539CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000332246ENST00000429174CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000454498ENST00000258104CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000454498ENST00000394120CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000454498ENST00000409366CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000454498ENST00000409582CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000454498ENST00000409651CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000454498ENST00000409744CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000454498ENST00000409762CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000454498ENST00000410020CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000454498ENST00000410041CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000454498ENST00000413539CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000454498ENST00000429174CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000522854ENST00000258104CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000522854ENST00000394120CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000522854ENST00000409366CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000522854ENST00000409582CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000522854ENST00000409651CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000522854ENST00000409744CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000522854ENST00000409762CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000522854ENST00000410020CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000522854ENST00000410041CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000522854ENST00000413539CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000522854ENST00000429174CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000544602ENST00000258104CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000544602ENST00000394120CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000544602ENST00000409366CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000544602ENST00000409582CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000544602ENST00000409651CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000544602ENST00000409744CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000544602ENST00000409762CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000544602ENST00000410020CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000544602ENST00000410041CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000544602ENST00000413539CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3CDSENST00000544602ENST00000429174CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3UTRENST00000311540ENST00000479049CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3UTRENST00000332246ENST00000479049CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3UTRENST00000454498ENST00000479049CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3UTRENST00000522854ENST00000479049CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
5UTR-3UTRENST00000544602ENST00000479049CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
intron-3CDSENST00000518542ENST00000258104CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
intron-3CDSENST00000518542ENST00000394120CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
intron-3CDSENST00000518542ENST00000409366CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
intron-3CDSENST00000518542ENST00000409582CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
intron-3CDSENST00000518542ENST00000409651CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
intron-3CDSENST00000518542ENST00000409744CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
intron-3CDSENST00000518542ENST00000409762CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
intron-3CDSENST00000518542ENST00000410020CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
intron-3CDSENST00000518542ENST00000410041CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
intron-3CDSENST00000518542ENST00000413539CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
intron-3CDSENST00000518542ENST00000429174CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+
intron-3UTRENST00000518542ENST00000479049CSGALNACT1chr8

19459281

-DYSFchr2

71906186

+

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 CSGALNACT1-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)
CSGALNACT1chr819459281-DYSFchr271906186+2.14E-060.99999785
CSGALNACT1chr819459281-DYSFchr271906186+2.14E-060.99999785

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.
genomic feature of top 1%

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Fusion Protein Features for CSGALNACT1-DYSF


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:19459281/:71906186)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CSGALNACT1

Q8TDX6

DYSF

O75923

FUNCTION: Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. Important role in chondroitin chain biosynthesis in cartilage formation and subsequent endochondral ossification (PubMed:11788602, PubMed:12163485, PubMed:12446672, PubMed:17145758, PubMed:31705726). Moreover, is involved in the metabolism of aggrecan (By similarity). {ECO:0000250|UniProtKB:Q8BJQ9, ECO:0000269|PubMed:11788602, ECO:0000269|PubMed:12163485, ECO:0000269|PubMed:12446672, ECO:0000269|PubMed:17145758, ECO:0000269|PubMed:21160489, ECO:0000269|PubMed:27599773, ECO:0000269|PubMed:31705726}.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 CSGALNACT1-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 CSGALNACT1-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 CSGALNACT1-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 CSGALNACT1-DYSF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource