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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:ATXN7-PEX7 (FusionGDB2 ID:HG6314TG5191)

Fusion Gene Summary for ATXN7-PEX7

check button Fusion gene summary
Fusion gene informationFusion gene name: ATXN7-PEX7
Fusion gene ID: hg6314tg5191
HgeneTgene
Gene symbol

ATXN7

PEX7

Gene ID

6314

5191

Gene nameataxin 7peroxisomal biogenesis factor 7
SynonymsADCAII|OPCA3|SCA7|SGF73PBD9B|PTS2R|RCDP1|RD
Cytomap('ATXN7')('PEX7')

3p14.1

6q23.3

Type of geneprotein-codingprotein-coding
Descriptionataxin-7spinocerebellar ataxia type 7 proteinperoxisomal biogenesis factor 7PTS2 receptorperoxin-7peroxisomal PTS2 receptorperoxisomal targeting signal 2 receptorperoxisome targeting signal 2 receptor
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000488239, ENST00000295900, 
ENST00000398590, ENST00000484332, 
ENST00000487717, ENST00000538065, 
Fusion gene scores* DoF score7 X 6 X 6=2526 X 5 X 6=180
# samples 87
** MAII scorelog2(8/252*10)=-1.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/180*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATXN7 [Title/Abstract] AND PEX7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATXN7(63965843)-PEX7(137219279), # 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
HgeneATXN7

GO:0016578

histone deubiquitination

18206972

TgenePEX7

GO:0016558

protein import into peroxisome matrix

9090381



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
ChimerDB4ESCATCGA-L5-A8NUATXN7chr3

63965843

+PEX7chr6

137219279

+


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Fusion Gene ORF analysis for ATXN7-PEX7

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
3UTR-3UTRENST00000488239ENST00000318471ATXN7chr3

63965843

+PEX7chr6

137219279

+
3UTR-3UTRENST00000488239ENST00000541292ATXN7chr3

63965843

+PEX7chr6

137219279

+
3UTR-intronENST00000488239ENST00000367756ATXN7chr3

63965843

+PEX7chr6

137219279

+
5CDS-3UTRENST00000295900ENST00000318471ATXN7chr3

63965843

+PEX7chr6

137219279

+
5CDS-3UTRENST00000295900ENST00000541292ATXN7chr3

63965843

+PEX7chr6

137219279

+
5CDS-3UTRENST00000398590ENST00000318471ATXN7chr3

63965843

+PEX7chr6

137219279

+
5CDS-3UTRENST00000398590ENST00000541292ATXN7chr3

63965843

+PEX7chr6

137219279

+
5CDS-3UTRENST00000484332ENST00000318471ATXN7chr3

63965843

+PEX7chr6

137219279

+
5CDS-3UTRENST00000484332ENST00000541292ATXN7chr3

63965843

+PEX7chr6

137219279

+
5CDS-3UTRENST00000487717ENST00000318471ATXN7chr3

63965843

+PEX7chr6

137219279

+
5CDS-3UTRENST00000487717ENST00000541292ATXN7chr3

63965843

+PEX7chr6

137219279

+
5CDS-3UTRENST00000538065ENST00000318471ATXN7chr3

63965843

+PEX7chr6

137219279

+
5CDS-3UTRENST00000538065ENST00000541292ATXN7chr3

63965843

+PEX7chr6

137219279

+
5CDS-intronENST00000295900ENST00000367756ATXN7chr3

63965843

+PEX7chr6

137219279

+
5CDS-intronENST00000398590ENST00000367756ATXN7chr3

63965843

+PEX7chr6

137219279

+
5CDS-intronENST00000484332ENST00000367756ATXN7chr3

63965843

+PEX7chr6

137219279

+
5CDS-intronENST00000487717ENST00000367756ATXN7chr3

63965843

+PEX7chr6

137219279

+
5CDS-intronENST00000538065ENST00000367756ATXN7chr3

63965843

+PEX7chr6

137219279

+

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 ATXN7-PEX7


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)
ATXN7chr363965843+PEX7chr6137219279+0.0006936060.99930644
ATXN7chr363965843+PEX7chr6137219279+0.0006936060.99930644


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 ATXN7-PEX7


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/:63965843/:137219279)
- 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 ATXN7-PEX7


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 ATXN7-PEX7


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 ATXN7-PEX7


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 ATXN7-PEX7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATXN7C0752125Spinocerebellar Ataxia Type 73CTD_human;GENOMICS_ENGLAND
HgeneATXN7C0018975Hemeralopia1CTD_human
HgeneATXN7C0026650Movement Disorders1CTD_human
HgeneATXN7C0034933Reflex, Abnormal1CTD_human
HgeneATXN7C0037274Dermatologic disorders1CTD_human
HgeneATXN7C0042790Vision Disorders1CTD_human
HgeneATXN7C0087012Ataxia, Spinocerebellar1CTD_human
HgeneATXN7C0151572Reflex, Corneal, Decreased1CTD_human
HgeneATXN7C0151888Hyporeflexia1CTD_human
HgeneATXN7C0151889Hyperreflexia1CTD_human
HgeneATXN7C0231691Cerebellar Gait Ataxia1CTD_human
HgeneATXN7C0233769Micropsia1CTD_human
HgeneATXN7C0233771Macropsia1CTD_human
HgeneATXN7C0234146Absent reflex1CTD_human
HgeneATXN7C0234784Reflex, Gag, Absent1CTD_human
HgeneATXN7C0241772Reflex, Deep Tendon, Absent1CTD_human
HgeneATXN7C0266487Etat Marbre1CTD_human
HgeneATXN7C0271185Metamorphopsia1CTD_human
HgeneATXN7C0274861Arsenic Poisoning, Inorganic1CTD_human
HgeneATXN7C0274862Nervous System, Organic Arsenic Poisoning1CTD_human
HgeneATXN7C0277839Hoffman's Reflex1CTD_human
HgeneATXN7C0277850Reflex, Pendular1CTD_human
HgeneATXN7C0278211Reflex, Corneal, Absent1CTD_human
HgeneATXN7C0311375Arsenic Poisoning1CTD_human
HgeneATXN7C0522345Reflex, Acoustic, Abnormal1CTD_human
HgeneATXN7C0558845Reflex, Ankle, Absent1CTD_human
HgeneATXN7C0558846Reflex, Triceps, Absent1CTD_human
HgeneATXN7C0558847Reflex, Biceps, Absent1CTD_human
HgeneATXN7C0576612Reflex, Anal, Absent1CTD_human
HgeneATXN7C0743002Abnormal Deep Tendon Reflex1CTD_human
HgeneATXN7C0751468Bulbocavernosus Reflex, Decreased1CTD_human
HgeneATXN7C0751469Bulbocavernousus Reflex Absent1CTD_human
HgeneATXN7C0751470Palmo-Mental Reflex1CTD_human
HgeneATXN7C0751471Reflex, Anal, Decreased1CTD_human
HgeneATXN7C0751472Reflex, Ankle, Abnormal1CTD_human
HgeneATXN7C0751473Reflex, Ankle, Decreased1CTD_human
HgeneATXN7C0751474Reflex, Biceps, Abnormal1CTD_human
HgeneATXN7C0751475Reflex, Biceps, Decreased1CTD_human
HgeneATXN7C0751476Reflex, Gag, Decreased1CTD_human
HgeneATXN7C0751477Reflex, Knee, Abnormal1CTD_human
HgeneATXN7C0751478Reflex, Knee, Decreased1CTD_human
HgeneATXN7C0751479Reflex, Moro, Asymmetric1CTD_human
HgeneATXN7C0751480Reflex, Triceps, Abnormal1CTD_human
HgeneATXN7C0751481Reflex, Triceps, Decreased1CTD_human
HgeneATXN7C0751836Gait Ataxia, Sensory1CTD_human
HgeneATXN7C0751837Gait Ataxia1CTD_human
HgeneATXN7C0751851Arsenic Encephalopathy1CTD_human
HgeneATXN7C0751852Arsenic Induced Polyneuropathy1CTD_human
HgeneATXN7C0752120Spinocerebellar Ataxia Type 11CTD_human
HgeneATXN7C0752121Spinocerebellar Ataxia Type 21CTD_human
HgeneATXN7C0752122Spinocerebellar Ataxia Type 41CTD_human
HgeneATXN7C0752123Spinocerebellar Ataxia Type 51CTD_human
HgeneATXN7C0752124Spinocerebellar Ataxia Type 6 (disorder)1CTD_human
HgeneATXN7C3489704Vision Disability1CTD_human
HgeneATXN7C3665347Visual Impairment1CTD_human
TgeneC1859133RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 18CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC2749346Refsum Disease, Adult, 23CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0034960Refsum Disease2CTD_human;GENOMICS_ENGLAND
TgeneC0282529Chondrodysplasia Punctata, Rhizomelic1CTD_human
TgeneC1720802Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency1CTD_human