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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:ATXN10-CERK (FusionGDB2 ID:HG25814TG64781)

Fusion Gene Summary for ATXN10-CERK

check button Fusion gene summary
Fusion gene informationFusion gene name: ATXN10-CERK
Fusion gene ID: hg25814tg64781
HgeneTgene
Gene symbol

ATXN10

CERK

Gene ID

25814

64781

Gene nameataxin 10ceramide kinase
SynonymsE46L|HUMEEP|SCA10LK4|dA59H18.2|dA59H18.3|hCERK
Cytomap('ATXN10')('CERK')

22q13.31

22q13.31

Type of geneprotein-codingprotein-coding
Descriptionataxin-10brain protein E46 homologspinocerebellar ataxia type 10 proteinceramide kinaseacylsphingosine kinaselipid kinase 4lipid kinase LK4
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000252934, ENST00000381061, 
ENST00000402380, ENST00000498009, 
Fusion gene scores* DoF score16 X 12 X 11=211216 X 13 X 6=1248
# samples 1917
** MAII scorelog2(19/2112*10)=-3.47453851102751
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/1248*10)=-2.87601128272455
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATXN10 [Title/Abstract] AND CERK [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATXN10(46125470)-CERK(47108190), # samples:1
Anticipated loss of major functional domain due to fusion event.ATXN10-CERK seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ATXN10-CERK seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ATXN10-CERK seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
ATXN10-CERK seems lost the major protein functional domain in Tgene 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
HgeneATXN10

GO:0031175

neuron projection development

16498633

TgeneCERK

GO:0006672

ceramide metabolic process

19501188



check button Fusion gene information
* 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
ChimerDB4Non-CancerERR315493ATXN10chr22

46125470

+CERKchr22

47108190

-


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Fusion Gene ORF analysis for ATXN10-CERK

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
5CDS-5UTRENST00000252934ENST00000541677ATXN10chr22

46125470

+CERKchr22

47108190

-
5CDS-5UTRENST00000381061ENST00000541677ATXN10chr22

46125470

+CERKchr22

47108190

-
5CDS-intronENST00000252934ENST00000471929ATXN10chr22

46125470

+CERKchr22

47108190

-
5CDS-intronENST00000381061ENST00000471929ATXN10chr22

46125470

+CERKchr22

47108190

-
Frame-shiftENST00000252934ENST00000216264ATXN10chr22

46125470

+CERKchr22

47108190

-
Frame-shiftENST00000381061ENST00000216264ATXN10chr22

46125470

+CERKchr22

47108190

-
intron-3CDSENST00000402380ENST00000216264ATXN10chr22

46125470

+CERKchr22

47108190

-
intron-3CDSENST00000498009ENST00000216264ATXN10chr22

46125470

+CERKchr22

47108190

-
intron-5UTRENST00000402380ENST00000541677ATXN10chr22

46125470

+CERKchr22

47108190

-
intron-5UTRENST00000498009ENST00000541677ATXN10chr22

46125470

+CERKchr22

47108190

-
intron-intronENST00000402380ENST00000471929ATXN10chr22

46125470

+CERKchr22

47108190

-
intron-intronENST00000498009ENST00000471929ATXN10chr22

46125470

+CERKchr22

47108190

-

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 ATXN10-CERK


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)


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Fusion Protein Features for ATXN10-CERK


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/:46125470/:47108190)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (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 ATXN10-CERK


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 ATXN10-CERK


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 ATXN10-CERK


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 ATXN10-CERK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATXN10C0687120Nephronophthisis1GENOMICS_ENGLAND
HgeneATXN10C1963674Spinocerebellar Ataxia 101CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human