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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:ATXN3-MAML3 (FusionGDB2 ID:8521)

Fusion Gene Summary for ATXN3-MAML3

check button Fusion gene summary
Fusion gene informationFusion gene name: ATXN3-MAML3
Fusion gene ID: 8521
HgeneTgene
Gene symbol

ATXN3

MAML3

Gene ID

4287

55534

Gene nameataxin 3mastermind like transcriptional coactivator 3
SynonymsAT3|ATX3|JOS|MJD|MJD1|SCA3CAGH3|ERDA3|GDN|MAM-2|MAM2|TNRC3|mam-3
Cytomap

14q32.12

4q31.1

Type of geneprotein-codingprotein-coding
Descriptionataxin-3Machado-Joseph disease protein 1josephinolivopontocerebellar ataxia 3spinocerebellar ataxia type 3 proteinmastermind-like protein 3CAG repeat containing (glia-derived nexin I alpha)expanded repeat domain, CAG/CTG 3polyglutamine richtrinucleotide repeat containing 3
Modification date2020031320200313
UniProtAcc

P54252

Q96JK9

Ensembl transtripts involved in fusion geneENST00000545170, ENST00000429774, 
ENST00000393287, ENST00000502250, 
ENST00000503767, ENST00000340660, 
ENST00000532032, ENST00000554491, 
ENST00000509479, ENST00000327122, 
ENST00000398940, 
Fusion gene scores* DoF score4 X 5 X 5=10013 X 13 X 8=1352
# samples 516
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/1352*10)=-3.07895134139482
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATXN3 [Title/Abstract] AND MAML3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATXN3(92537355)-MAML3(140810657), # samples:1
ATXN3(92537361)-MAML3(140810663), # 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
HgeneATXN3

GO:0070536

protein K63-linked deubiquitination

22970133

HgeneATXN3

GO:0071108

protein K48-linked deubiquitination

22970133

TgeneMAML3

GO:0007219

Notch signaling pathway

12370315

TgeneMAML3

GO:0045944

positive regulation of transcription by RNA polymerase II

12370315


check buttonFusion gene breakpoints across ATXN3 (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 MAML3 (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
ChimerDB4LUADTCGA-55-A490ATXN3chr14

92537355

-MAML3chr4

140810657

-
ChimerDB4TGCTTCGA-2G-AAHGATXN3chr14

92537361

-MAML3chr4

140810663

-


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Fusion Gene ORF analysis for ATXN3-MAML3

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-3CDSENST00000545170ENST00000509479ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000545170ENST00000327122ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000545170ENST00000398940ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000429774ENST00000509479ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000429774ENST00000327122ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000429774ENST00000398940ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000393287ENST00000509479ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000393287ENST00000327122ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000393287ENST00000398940ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000502250ENST00000509479ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000502250ENST00000327122ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000502250ENST00000398940ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000503767ENST00000509479ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000503767ENST00000327122ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000503767ENST00000398940ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000340660ENST00000509479ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000340660ENST00000327122ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000340660ENST00000398940ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000532032ENST00000509479ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000532032ENST00000327122ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000532032ENST00000398940ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000554491ENST00000509479ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000554491ENST00000327122ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000554491ENST00000398940ATXN3chr14

92537355

-MAML3chr4

140810657

-
intron-3CDSENST00000545170ENST00000509479ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000545170ENST00000327122ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000545170ENST00000398940ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000429774ENST00000509479ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000429774ENST00000327122ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000429774ENST00000398940ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000393287ENST00000509479ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000393287ENST00000327122ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000393287ENST00000398940ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000502250ENST00000509479ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000502250ENST00000327122ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000502250ENST00000398940ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000503767ENST00000509479ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000503767ENST00000327122ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000503767ENST00000398940ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000340660ENST00000509479ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000340660ENST00000327122ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000340660ENST00000398940ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000532032ENST00000509479ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000532032ENST00000327122ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000532032ENST00000398940ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000554491ENST00000509479ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000554491ENST00000327122ATXN3chr14

92537361

-MAML3chr4

140810663

-
intron-3CDSENST00000554491ENST00000398940ATXN3chr14

92537361

-MAML3chr4

140810663

-

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 ATXN3-MAML3


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 ATXN3-MAML3


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
ATXN3

P54252

MAML3

Q96JK9

FUNCTION: Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates (PubMed:12297501, PubMed:17696782, PubMed:23625928, PubMed:28445460, PubMed:16118278). Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins (PubMed:17696782). Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension (By similarity). Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription (PubMed:12297501). Regulates autophagy via the deubiquitination of 'Lys-402' of BECN1 leading to the stabilization of BECN1 (PubMed:28445460). {ECO:0000250|UniProtKB:Q9CVD2, ECO:0000269|PubMed:12297501, ECO:0000269|PubMed:16118278, ECO:0000269|PubMed:17696782, ECO:0000269|PubMed:23625928, ECO:0000269|PubMed:28445460}.FUNCTION: Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. {ECO:0000269|PubMed:12370315, ECO:0000269|PubMed:12386158}.

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 ATXN3-MAML3


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 ATXN3-MAML3


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 ATXN3-MAML3


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 ATXN3-MAML3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATXN3C0011570Mental Depression5PSYGENET
HgeneATXN3C0011581Depressive disorder5PSYGENET
HgeneATXN3C0027746Nerve Degeneration1CTD_human
TgeneMAML3C0010606Adenoid Cystic Carcinoma1CTD_human
TgeneMAML3C0018798Congenital Heart Defects1CTD_human
TgeneMAML3C0205944Sarcoma, Epithelioid1CTD_human
TgeneMAML3C0205945Sarcoma, Spindle Cell1CTD_human
TgeneMAML3C1261473Sarcoma1CTD_human
TgeneMAML3C1710096Sinonasal undifferentiated carcinoma1CTD_human