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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:ATXN1-DNM3 (FusionGDB2 ID:8389)

Fusion Gene Summary for ATXN1-DNM3

check button Fusion gene summary
Fusion gene informationFusion gene name: ATXN1-DNM3
Fusion gene ID: 8389
HgeneTgene
Gene symbol

ATXN1

DNM3

Gene ID

6310

26052

Gene nameataxin 1dynamin 3
SynonymsATX1|D6S504E|SCA1Dyna III
Cytomap

6p22.3

1q24.3

Type of geneprotein-codingprotein-coding
Descriptionataxin-1alternative ataxin1spinocerebellar ataxia type 1 proteindynamin-3T-dynamindynamin family memberdynamin, testicular
Modification date2020031320200313
UniProtAcc

P54253

Q9UQ16

Ensembl transtripts involved in fusion geneENST00000244769, ENST00000436367, 
ENST00000467008, 		ENST00000358155, 
ENST00000355305, ENST00000367731, 
ENST00000367733, ENST00000520906, 
Fusion gene scores* DoF score28 X 20 X 12=672019 X 17 X 5=1615
# samples 3321
** MAII scorelog2(33/6720*10)=-4.34792330342031
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(21/1615*10)=-2.94307293191516
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATXN1 [Title/Abstract] AND DNM3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATXN1(16486203)-DNM3(172348158), # samples:3
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
HgeneATXN1

GO:0045892

negative regulation of transcription, DNA-templated

15016912

HgeneATXN1

GO:0051168

nuclear export

15615787


check buttonFusion gene breakpoints across ATXN1 (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 DNM3 (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
ChimerDB4SARCTCGA-DX-A1L3-01AATXN1chr6

16486203

-DNM3chr1

172348158

+
ChimerDB4SARCTCGA-DX-A1L3ATXN1chr6

16486202

-DNM3chr1

172348157

+


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Fusion Gene ORF analysis for ATXN1-DNM3

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-3CDSENST00000244769ENST00000358155ATXN1chr6

16486203

-DNM3chr1

172348158

+
5UTR-3CDSENST00000244769ENST00000358155ATXN1chr6

16486202

-DNM3chr1

172348157

+
5UTR-3CDSENST00000436367ENST00000358155ATXN1chr6

16486203

-DNM3chr1

172348158

+
5UTR-3CDSENST00000436367ENST00000358155ATXN1chr6

16486202

-DNM3chr1

172348157

+
5UTR-intronENST00000244769ENST00000355305ATXN1chr6

16486203

-DNM3chr1

172348158

+
5UTR-intronENST00000244769ENST00000355305ATXN1chr6

16486202

-DNM3chr1

172348157

+
5UTR-intronENST00000244769ENST00000367731ATXN1chr6

16486203

-DNM3chr1

172348158

+
5UTR-intronENST00000244769ENST00000367731ATXN1chr6

16486202

-DNM3chr1

172348157

+
5UTR-intronENST00000244769ENST00000367733ATXN1chr6

16486203

-DNM3chr1

172348158

+
5UTR-intronENST00000244769ENST00000367733ATXN1chr6

16486202

-DNM3chr1

172348157

+
5UTR-intronENST00000244769ENST00000520906ATXN1chr6

16486203

-DNM3chr1

172348158

+
5UTR-intronENST00000244769ENST00000520906ATXN1chr6

16486202

-DNM3chr1

172348157

+
5UTR-intronENST00000436367ENST00000355305ATXN1chr6

16486203

-DNM3chr1

172348158

+
5UTR-intronENST00000436367ENST00000355305ATXN1chr6

16486202

-DNM3chr1

172348157

+
5UTR-intronENST00000436367ENST00000367731ATXN1chr6

16486203

-DNM3chr1

172348158

+
5UTR-intronENST00000436367ENST00000367731ATXN1chr6

16486202

-DNM3chr1

172348157

+
5UTR-intronENST00000436367ENST00000367733ATXN1chr6

16486203

-DNM3chr1

172348158

+
5UTR-intronENST00000436367ENST00000367733ATXN1chr6

16486202

-DNM3chr1

172348157

+
5UTR-intronENST00000436367ENST00000520906ATXN1chr6

16486203

-DNM3chr1

172348158

+
5UTR-intronENST00000436367ENST00000520906ATXN1chr6

16486202

-DNM3chr1

172348157

+
intron-3CDSENST00000467008ENST00000358155ATXN1chr6

16486203

-DNM3chr1

172348158

+
intron-3CDSENST00000467008ENST00000358155ATXN1chr6

16486202

-DNM3chr1

172348157

+
intron-intronENST00000467008ENST00000355305ATXN1chr6

16486203

-DNM3chr1

172348158

+
intron-intronENST00000467008ENST00000355305ATXN1chr6

16486202

-DNM3chr1

172348157

+
intron-intronENST00000467008ENST00000367731ATXN1chr6

16486203

-DNM3chr1

172348158

+
intron-intronENST00000467008ENST00000367731ATXN1chr6

16486202

-DNM3chr1

172348157

+
intron-intronENST00000467008ENST00000367733ATXN1chr6

16486203

-DNM3chr1

172348158

+
intron-intronENST00000467008ENST00000367733ATXN1chr6

16486202

-DNM3chr1

172348157

+
intron-intronENST00000467008ENST00000520906ATXN1chr6

16486203

-DNM3chr1

172348158

+
intron-intronENST00000467008ENST00000520906ATXN1chr6

16486202

-DNM3chr1

172348157

+

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 ATXN1-DNM3


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)
ATXN1chr616486202-DNM3chr1172348157+2.00E-091
ATXN1chr616486202-DNM3chr1172348157+2.00E-091
ATXN1chr616486202-DNM3chr1172348157+2.00E-091
ATXN1chr616486202-DNM3chr1172348157+2.00E-091

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 ATXN1-DNM3


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/:16486203/:172348158)
- 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
ATXN1

P54253

DNM3

Q9UQ16

FUNCTION: Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism (PubMed:21475249). In concert with CIC and ATXN1L, involved in brain development (By similarity). {ECO:0000250|UniProtKB:P54254, ECO:0000269|PubMed:21475249}.FUNCTION: Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes, in particular endocytosis (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 ATXN1-DNM3


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 ATXN1-DNM3


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 ATXN1-DNM3


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 ATXN1-DNM3


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