Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ATXN7L1-PPP2R2B (FusionGDB2 ID:HG222255TG5521)

Fusion Gene Summary for ATXN7L1-PPP2R2B

check button Fusion gene summary
Fusion gene informationFusion gene name: ATXN7L1-PPP2R2B
Fusion gene ID: hg222255tg5521
HgeneTgene
Gene symbol

ATXN7L1

PPP2R2B

Gene ID

222255

5521

Gene nameataxin 7 like 1protein phosphatase 2 regulatory subunit Bbeta
SynonymsATXN7L4B55BETA|PP2AB55BETA|PP2ABBETA|PP2APR55B|PP2APR55BETA|PR2AB55BETA|PR2ABBETA|PR2APR55BETA|PR52B|PR55-BETA|PR55BETA|SCA12
Cytomap('ATXN7L1')('PPP2R2B')

7q22.3

5q32

Type of geneprotein-codingprotein-coding
Descriptionataxin-7-like protein 1ataxin 7-like 4ataxin-7-like protein 4serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoformPP2A subunit B isoform B55-betaPP2A subunit B isoform PR55-betaPP2A subunit B isoform R2-betaPP2A, subunit B, B-beta isoformprotein phosphatase 2 (formerly 2A), regulator
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000318724, ENST00000419735, 
ENST00000388807, ENST00000472910, 
ENST00000477775, ENST00000478915, 
Fusion gene scores* DoF score13 X 10 X 5=6506 X 6 X 2=72
# samples 136
** MAII scorelog2(13/650*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATXN7L1 [Title/Abstract] AND PPP2R2B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATXN7L1(105516258)-PPP2R2B(146070803), # samples:1
Anticipated loss of major functional domain due to fusion event.ATXN7L1-PPP2R2B seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ATXN7L1-PPP2R2B seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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

check buttonFusion gene breakpoints across ATXN7L1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across PPP2R2B (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4GBMTCGA-32-1970-01AATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-


Top

Fusion Gene ORF analysis for ATXN7L1-PPP2R2B

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-5UTRENST00000318724ENST00000336640ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
5CDS-5UTRENST00000318724ENST00000356826ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
5CDS-5UTRENST00000318724ENST00000394409ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
5CDS-5UTRENST00000318724ENST00000394410ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
5CDS-5UTRENST00000318724ENST00000394411ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
5CDS-5UTRENST00000318724ENST00000394414ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
5CDS-5UTRENST00000318724ENST00000453001ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
5CDS-5UTRENST00000318724ENST00000504198ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
5CDS-5UTRENST00000318724ENST00000508545ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
5CDS-5UTRENST00000318724ENST00000530902ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
5CDS-5UTRENST00000419735ENST00000336640ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
5CDS-5UTRENST00000419735ENST00000356826ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
5CDS-5UTRENST00000419735ENST00000394409ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
5CDS-5UTRENST00000419735ENST00000394410ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
5CDS-5UTRENST00000419735ENST00000394411ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
5CDS-5UTRENST00000419735ENST00000394414ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
5CDS-5UTRENST00000419735ENST00000453001ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
5CDS-5UTRENST00000419735ENST00000504198ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
5CDS-5UTRENST00000419735ENST00000508545ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
5CDS-5UTRENST00000419735ENST00000530902ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
In-frameENST00000318724ENST00000394413ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
In-frameENST00000419735ENST00000394413ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-3CDSENST00000388807ENST00000394413ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-3CDSENST00000472910ENST00000394413ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-3CDSENST00000477775ENST00000394413ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-3CDSENST00000478915ENST00000394413ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000388807ENST00000336640ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000388807ENST00000356826ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000388807ENST00000394409ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000388807ENST00000394410ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000388807ENST00000394411ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000388807ENST00000394414ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000388807ENST00000453001ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000388807ENST00000504198ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000388807ENST00000508545ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000388807ENST00000530902ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000472910ENST00000336640ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000472910ENST00000356826ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000472910ENST00000394409ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000472910ENST00000394410ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000472910ENST00000394411ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000472910ENST00000394414ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000472910ENST00000453001ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000472910ENST00000504198ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000472910ENST00000508545ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000472910ENST00000530902ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000477775ENST00000336640ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000477775ENST00000356826ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000477775ENST00000394409ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000477775ENST00000394410ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000477775ENST00000394411ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000477775ENST00000394414ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000477775ENST00000453001ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000477775ENST00000504198ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000477775ENST00000508545ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000477775ENST00000530902ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000478915ENST00000336640ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000478915ENST00000356826ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000478915ENST00000394409ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000478915ENST00000394410ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000478915ENST00000394411ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000478915ENST00000394414ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000478915ENST00000453001ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000478915ENST00000504198ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000478915ENST00000508545ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-
intron-5UTRENST00000478915ENST00000530902ATXN7L1chr7

105516258

-PPP2R2Bchr5

146070803

-

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)
ENST00000419735ATXN7L1chr7105516258-ENST00000394413PPP2R2Bchr5146070803-2868296461293415
ENST00000318724ATXN7L1chr7105516258-ENST00000394413PPP2R2Bchr5146070803-2846274241271415

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
ENST00000419735ENST00000394413ATXN7L1chr7105516258-PPP2R2Bchr5146070803-0.0003602480.99963975
ENST00000318724ENST00000394413ATXN7L1chr7105516258-PPP2R2Bchr5146070803-0.0003414770.9996586

Top

Fusion Genomic Features for ATXN7L1-PPP2R2B


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.
genomic feature

Top

Fusion Protein Features for ATXN7L1-PPP2R2B


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/chr7:105516258/chr5:146070803)
- 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
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000033664029171_209114447.0RepeatNote=WD 3
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000033664029220_260114447.0RepeatNote=WD 4
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000033664029279_317114447.0RepeatNote=WD 5
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000033664029334_375114447.0RepeatNote=WD 6
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000033664029410_442114447.0RepeatNote=WD 7
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000356826310171_209111444.0RepeatNote=WD 3
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000356826310220_260111444.0RepeatNote=WD 4
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000356826310279_317111444.0RepeatNote=WD 5
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000356826310334_375111444.0RepeatNote=WD 6
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000356826310410_442111444.0RepeatNote=WD 7
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000394409310171_209169502.0RepeatNote=WD 3
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000394409310220_260169502.0RepeatNote=WD 4
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000394409310279_317169502.0RepeatNote=WD 5
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000394409310334_375169502.0RepeatNote=WD 6
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000394409310410_442169502.0RepeatNote=WD 7
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000394410411171_209100433.0RepeatNote=WD 3
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000394410411220_260100433.0RepeatNote=WD 4
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000394410411279_317100433.0RepeatNote=WD 5
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000394410411334_375100433.0RepeatNote=WD 6
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000394410411410_442100433.0RepeatNote=WD 7
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000394411310171_209111444.0RepeatNote=WD 3
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000394411310220_260111444.0RepeatNote=WD 4
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000394411310279_317111444.0RepeatNote=WD 5
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000394411310334_375111444.0RepeatNote=WD 6
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000394411310410_442111444.0RepeatNote=WD 7
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000039441329171_209111444.0RepeatNote=WD 3
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000039441329220_260111444.0RepeatNote=WD 4
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000039441329279_317111444.0RepeatNote=WD 5
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000039441329334_375111444.0RepeatNote=WD 6
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000039441329410_442111444.0RepeatNote=WD 7
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000394414310220_260177510.0RepeatNote=WD 4
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000394414310279_317177510.0RepeatNote=WD 5
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000394414310334_375177510.0RepeatNote=WD 6
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000394414310410_442177510.0RepeatNote=WD 7
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000453001310171_209111444.0RepeatNote=WD 3
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000453001310220_260111444.0RepeatNote=WD 4
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000453001310279_317111444.0RepeatNote=WD 5
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000453001310334_375111444.0RepeatNote=WD 6
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000453001310410_442111444.0RepeatNote=WD 7
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000504198310171_209117450.0RepeatNote=WD 3
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000504198310220_260117450.0RepeatNote=WD 4
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000504198310279_317117450.0RepeatNote=WD 5
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000504198310334_375117450.0RepeatNote=WD 6
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000504198310410_442117450.0RepeatNote=WD 7
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000508545310171_209100433.0RepeatNote=WD 3
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000508545310220_260100433.0RepeatNote=WD 4
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000508545310279_317100433.0RepeatNote=WD 5
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000508545310334_375100433.0RepeatNote=WD 6
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000508545310410_442100433.0RepeatNote=WD 7

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATXN7L1chr7:105516258chr5:146070803ENST00000318724-24364_41783147.0Compositional biasNote=Ser-rich
HgeneATXN7L1chr7:105516258chr5:146070803ENST00000318724-24536_84783147.0Compositional biasNote=Ser-rich
HgeneATXN7L1chr7:105516258chr5:146070803ENST00000419735-212364_41783862.0Compositional biasNote=Ser-rich
HgeneATXN7L1chr7:105516258chr5:146070803ENST00000419735-212536_84783862.0Compositional biasNote=Ser-rich
HgeneATXN7L1chr7:105516258chr5:146070803ENST00000477775-110364_4170739.0Compositional biasNote=Ser-rich
HgeneATXN7L1chr7:105516258chr5:146070803ENST00000477775-110536_8470739.0Compositional biasNote=Ser-rich
HgeneATXN7L1chr7:105516258chr5:146070803ENST00000318724-24284_35183147.0DomainSCA7
HgeneATXN7L1chr7:105516258chr5:146070803ENST00000419735-212284_35183862.0DomainSCA7
HgeneATXN7L1chr7:105516258chr5:146070803ENST00000477775-110284_3510739.0DomainSCA7
TgenePPP2R2Bchr7:105516258chr5:146070803ENST000003366402922_61114447.0RepeatNote=WD 1
TgenePPP2R2Bchr7:105516258chr5:146070803ENST000003366402987_128114447.0RepeatNote=WD 2
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000035682631022_61111444.0RepeatNote=WD 1
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000035682631087_128111444.0RepeatNote=WD 2
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000039440931022_61169502.0RepeatNote=WD 1
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000039440931087_128169502.0RepeatNote=WD 2
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000039441041122_61100433.0RepeatNote=WD 1
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000039441041187_128100433.0RepeatNote=WD 2
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000039441131022_61111444.0RepeatNote=WD 1
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000039441131087_128111444.0RepeatNote=WD 2
TgenePPP2R2Bchr7:105516258chr5:146070803ENST000003944132922_61111444.0RepeatNote=WD 1
TgenePPP2R2Bchr7:105516258chr5:146070803ENST000003944132987_128111444.0RepeatNote=WD 2
TgenePPP2R2Bchr7:105516258chr5:146070803ENST00000394414310171_209177510.0RepeatNote=WD 3
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000039441431022_61177510.0RepeatNote=WD 1
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000039441431087_128177510.0RepeatNote=WD 2
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000045300131022_61111444.0RepeatNote=WD 1
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000045300131087_128111444.0RepeatNote=WD 2
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000050419831022_61117450.0RepeatNote=WD 1
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000050419831087_128117450.0RepeatNote=WD 2
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000050854531022_61100433.0RepeatNote=WD 1
TgenePPP2R2Bchr7:105516258chr5:146070803ENST0000050854531087_128100433.0RepeatNote=WD 2


Top

Fusion Gene Sequence for ATXN7L1-PPP2R2B


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.
>8459_8459_1_ATXN7L1-PPP2R2B_ATXN7L1_chr7_105516258_ENST00000318724_PPP2R2B_chr5_146070803_ENST00000394413_length(transcript)=2846nt_BP=274nt
ACTCAATGTCGGAACGTTCCGAAGATGACGTCGGAGCGTTCTCGAATCCCGTGTCTCTCGGCTGCTGCTGCCGAAGGAACAGGGAAAAAG
CAACAAGAAGGAAGAGCAATGGCGACACTGGATCGCAAAGTGCCCAGTCCGGAGGCGTTTCTGGGCAAACCCTGGTCCTCCTGGATCGAC
GCCGCCAAATTACACTGCTCCGACAATGTAGATTTAGAAGAGGCTGGAAAAGAGGGTGGAAAAAGCAGGGAGGTTATGAGGCTTAATAAA
GAAGATAAAACTGTGAAGCTGTGGAAAGTCAGCGAGCGTGATAAGAGGCCAGAAGGCTACAATCTGAAAGATGAGGAGGGCCGGCTCCGG
GATCCTGCCACCATCACAACCCTGCGGGTGCCTGTCCTGAGACCCATGGACCTGATGGTGGAGGCCACCCCACGAAGAGTATTTGCCAAC
GCACACACATATCACATCAACTCCATATCTGTCAACAGCGACTATGAAACCTACATGTCCGCTGATGACCTGAGGATTAACCTATGGAAC
TTTGAAATAACCAATCAAAGTTTTAATATTGTGGACATTAAGCCAGCCAACATGGAGGAGCTCACGGAGGTGATCACAGCAGCCGAGTTC
CACCCCCATCATTGCAACACCTTCGTGTACAGCAGCAGCAAAGGGACAATCCGGCTGTGTGACATGCGGGCATCTGCCCTGTGTGACAGG
CACACCAAATTTTTTGAAGAGCCGGAAGATCCAAGCAACAGATCATTTTTCTCTGAAATTATCTCTTCGATTTCGGATGTGAAGTTCAGC
CACAGTGGGAGGTATATCATGACCAGGGACTACTTGACCGTCAAAGTCTGGGATCTCAACATGGAAAACCGCCCCATCGAGACTTACCAG
GTTCATGACTACCTCCGCAGCAAGCTGTGTTCCCTCTATGAAAATGACTGCATTTTTGATAAATTTGAGTGTGTGTGGAATGGGTCAGAC
AGTGTCATCATGACAGGCTCCTACAACAACTTCTTCAGGATGTTCGACAGAAACACCAAGCGTGATGTGACCCTTGAGGCTTCGAGGGAA
AACAGCAAGCCCCGGGCTATCCTCAAACCCCGAAAAGTGTGTGTGGGGGGCAAGCGGAGAAAAGACGAGATCAGTGTCGACAGTCTGGAC
TTTAGCAAAAAGATCTTGCATACAGCTTGGCATCCTTCAGAAAATATTATAGCAGTGGCGGCTACAAATAACCTATATATATTCCAGGAC
AAGGTTAACTAGGTGGACAAGTTATTACTTAATAATCTCACATACTGAATACTAGTCAAACAAGTTTTTAAATGTTTCTTTGGGTCTTCA
TTTGATGCATTGACTTTAATTTCCCTATACAGGAAATGATTGGAATAGAATTAAAAGGAGTCCAACATTCCCAGCTCCCCAGTTCTAAGA
AACTTTTGTCAAACCCAATAGGTTTGGGACACTTCTGTTTAGAATTGAAAGCTGCCAGCTAACAGTAATTCTTCCATAGTTGACTTGAAC
TTCTGATGCTTTTATTGCCCAGTTTTCTCTGGTGGGTCCAGTGTTTTGTTCCTAGGTGTCTGCTGCGATAAAATGAGGTTGTCTGTAGTA
TTTAAGGAGAAAAGAGATAAGTTTTTTTTAATTAAGCAATTCCATTTGATTGAAAAAAATCAACAAAAAATAAACACCGTTTACTCTTAG
ACAAATTCTTCTTGTTTTGTGAAAAACCAGAACTAGTCAGTATCTCCTGCCCCTCCACCATTTTTTTTTCCATTTTCCATTTTCCTTTGA
ACAATTTCATTTAAGCCAGAGATTTATTGCATGAAGCTGAGAAGAGGATGCAGAATGACAAGGAAAGGGCACATCAACCCTGCTATGCTC
TTTTTTTGTAAGCTCCATAGAAACAGCCTGAGAATTTGGCTAGGGAACTTGAATGCTTCAGGGGACAGAAAGAGAGCACTTTCGACACAG
TGCTTCCCAGAGTGAGCTTGGCAGGGCCAGGCGGGGCCAAATTCCATCTGCTGCCTTGTTACTCTTGCTTTTTGTGCTCTTAAATGGCTC
CATATAATCTTCTACTTACATGTTCCTTGGCTTTTTTCTCTTCAACCTTTTCCAGCTTATTTATTCCATTGACTTCTAAAGGCCGAGTCC
TGGGTGCTTATTATCTGGTGTTCTAAATGAAGCAGTAAGTTGGAAGCAGTGCCACCACCCCTGAGTCCCTGAGAAAGGCTGGTCTGTTCT
TTTTGGGTGTTTCTCCTAAGCAGCACCCTCCCCTCCTCCTGGTTTTGGTAACCAAAAGTAACAATCCATCAACCTCCATTGTACCTAGAA
CAAAAATAGCCAATAAAAACGCTGAGTTGTGAAGTCCAATCAGGCACTTCTAACTCACCCCAAGCTCGCCATCTGGAAAAACAGACCAGA
AGGCTCTCTTCTACAGAAATGAACTGTGGGGAAATCAAGCAGCTGTGACATGAAGTGAATGAAGTCCACTTGAAGCTGTGGAAGATGGTT
CATCCTTTTCCCCAGTTGAGGATCCAGATTTATAACTTCTAGAAAGCCATTTCCAGAAGGTTCTATGTGGCACACCCCTAGGAAAGGCAC
TAAATGCATGCAAAGGATTTATAAACTTAGGAAAGTAGATGGGTGGAGTCCAGAAAACTGGTTCTGGGTTAATATCTCTACATCTGTCTT
GATGACTCATTTCTCCTAACTCCCATTTAGTGCAGGGTAAATGGTTTGAGATGAGAGTTTTTCAATGAAAGGGAAATTTTCTTTCAGTTT

>8459_8459_1_ATXN7L1-PPP2R2B_ATXN7L1_chr7_105516258_ENST00000318724_PPP2R2B_chr5_146070803_ENST00000394413_length(amino acids)=415AA_BP=83
MTSERSRIPCLSAAAAEGTGKKQQEGRAMATLDRKVPSPEAFLGKPWSSWIDAAKLHCSDNVDLEEAGKEGGKSREVMRLNKEDKTVKLW
KVSERDKRPEGYNLKDEEGRLRDPATITTLRVPVLRPMDLMVEATPRRVFANAHTYHINSISVNSDYETYMSADDLRINLWNFEITNQSF
NIVDIKPANMEELTEVITAAEFHPHHCNTFVYSSSKGTIRLCDMRASALCDRHTKFFEEPEDPSNRSFFSEIISSISDVKFSHSGRYIMT
RDYLTVKVWDLNMENRPIETYQVHDYLRSKLCSLYENDCIFDKFECVWNGSDSVIMTGSYNNFFRMFDRNTKRDVTLEASRENSKPRAIL

--------------------------------------------------------------
>8459_8459_2_ATXN7L1-PPP2R2B_ATXN7L1_chr7_105516258_ENST00000419735_PPP2R2B_chr5_146070803_ENST00000394413_length(transcript)=2868nt_BP=296nt
CCCTCCCTCCCCCTTTCAGAACACTCAATGTCGGAACGTTCCGAAGATGACGTCGGAGCGTTCTCGAATCCCGTGTCTCTCGGCTGCTGC
TGCCGAAGGAACAGGGAAAAAGCAACAAGAAGGAAGAGCAATGGCGACACTGGATCGCAAAGTGCCCAGTCCGGAGGCGTTTCTGGGCAA
ACCCTGGTCCTCCTGGATCGACGCCGCCAAATTACACTGCTCCGACAATGTAGATTTAGAAGAGGCTGGAAAAGAGGGTGGAAAAAGCAG
GGAGGTTATGAGGCTTAATAAAGAAGATAAAACTGTGAAGCTGTGGAAAGTCAGCGAGCGTGATAAGAGGCCAGAAGGCTACAATCTGAA
AGATGAGGAGGGCCGGCTCCGGGATCCTGCCACCATCACAACCCTGCGGGTGCCTGTCCTGAGACCCATGGACCTGATGGTGGAGGCCAC
CCCACGAAGAGTATTTGCCAACGCACACACATATCACATCAACTCCATATCTGTCAACAGCGACTATGAAACCTACATGTCCGCTGATGA
CCTGAGGATTAACCTATGGAACTTTGAAATAACCAATCAAAGTTTTAATATTGTGGACATTAAGCCAGCCAACATGGAGGAGCTCACGGA
GGTGATCACAGCAGCCGAGTTCCACCCCCATCATTGCAACACCTTCGTGTACAGCAGCAGCAAAGGGACAATCCGGCTGTGTGACATGCG
GGCATCTGCCCTGTGTGACAGGCACACCAAATTTTTTGAAGAGCCGGAAGATCCAAGCAACAGATCATTTTTCTCTGAAATTATCTCTTC
GATTTCGGATGTGAAGTTCAGCCACAGTGGGAGGTATATCATGACCAGGGACTACTTGACCGTCAAAGTCTGGGATCTCAACATGGAAAA
CCGCCCCATCGAGACTTACCAGGTTCATGACTACCTCCGCAGCAAGCTGTGTTCCCTCTATGAAAATGACTGCATTTTTGATAAATTTGA
GTGTGTGTGGAATGGGTCAGACAGTGTCATCATGACAGGCTCCTACAACAACTTCTTCAGGATGTTCGACAGAAACACCAAGCGTGATGT
GACCCTTGAGGCTTCGAGGGAAAACAGCAAGCCCCGGGCTATCCTCAAACCCCGAAAAGTGTGTGTGGGGGGCAAGCGGAGAAAAGACGA
GATCAGTGTCGACAGTCTGGACTTTAGCAAAAAGATCTTGCATACAGCTTGGCATCCTTCAGAAAATATTATAGCAGTGGCGGCTACAAA
TAACCTATATATATTCCAGGACAAGGTTAACTAGGTGGACAAGTTATTACTTAATAATCTCACATACTGAATACTAGTCAAACAAGTTTT
TAAATGTTTCTTTGGGTCTTCATTTGATGCATTGACTTTAATTTCCCTATACAGGAAATGATTGGAATAGAATTAAAAGGAGTCCAACAT
TCCCAGCTCCCCAGTTCTAAGAAACTTTTGTCAAACCCAATAGGTTTGGGACACTTCTGTTTAGAATTGAAAGCTGCCAGCTAACAGTAA
TTCTTCCATAGTTGACTTGAACTTCTGATGCTTTTATTGCCCAGTTTTCTCTGGTGGGTCCAGTGTTTTGTTCCTAGGTGTCTGCTGCGA
TAAAATGAGGTTGTCTGTAGTATTTAAGGAGAAAAGAGATAAGTTTTTTTTAATTAAGCAATTCCATTTGATTGAAAAAAATCAACAAAA
AATAAACACCGTTTACTCTTAGACAAATTCTTCTTGTTTTGTGAAAAACCAGAACTAGTCAGTATCTCCTGCCCCTCCACCATTTTTTTT
TCCATTTTCCATTTTCCTTTGAACAATTTCATTTAAGCCAGAGATTTATTGCATGAAGCTGAGAAGAGGATGCAGAATGACAAGGAAAGG
GCACATCAACCCTGCTATGCTCTTTTTTTGTAAGCTCCATAGAAACAGCCTGAGAATTTGGCTAGGGAACTTGAATGCTTCAGGGGACAG
AAAGAGAGCACTTTCGACACAGTGCTTCCCAGAGTGAGCTTGGCAGGGCCAGGCGGGGCCAAATTCCATCTGCTGCCTTGTTACTCTTGC
TTTTTGTGCTCTTAAATGGCTCCATATAATCTTCTACTTACATGTTCCTTGGCTTTTTTCTCTTCAACCTTTTCCAGCTTATTTATTCCA
TTGACTTCTAAAGGCCGAGTCCTGGGTGCTTATTATCTGGTGTTCTAAATGAAGCAGTAAGTTGGAAGCAGTGCCACCACCCCTGAGTCC
CTGAGAAAGGCTGGTCTGTTCTTTTTGGGTGTTTCTCCTAAGCAGCACCCTCCCCTCCTCCTGGTTTTGGTAACCAAAAGTAACAATCCA
TCAACCTCCATTGTACCTAGAACAAAAATAGCCAATAAAAACGCTGAGTTGTGAAGTCCAATCAGGCACTTCTAACTCACCCCAAGCTCG
CCATCTGGAAAAACAGACCAGAAGGCTCTCTTCTACAGAAATGAACTGTGGGGAAATCAAGCAGCTGTGACATGAAGTGAATGAAGTCCA
CTTGAAGCTGTGGAAGATGGTTCATCCTTTTCCCCAGTTGAGGATCCAGATTTATAACTTCTAGAAAGCCATTTCCAGAAGGTTCTATGT
GGCACACCCCTAGGAAAGGCACTAAATGCATGCAAAGGATTTATAAACTTAGGAAAGTAGATGGGTGGAGTCCAGAAAACTGGTTCTGGG
TTAATATCTCTACATCTGTCTTGATGACTCATTTCTCCTAACTCCCATTTAGTGCAGGGTAAATGGTTTGAGATGAGAGTTTTTCAATGA

>8459_8459_2_ATXN7L1-PPP2R2B_ATXN7L1_chr7_105516258_ENST00000419735_PPP2R2B_chr5_146070803_ENST00000394413_length(amino acids)=415AA_BP=83
MTSERSRIPCLSAAAAEGTGKKQQEGRAMATLDRKVPSPEAFLGKPWSSWIDAAKLHCSDNVDLEEAGKEGGKSREVMRLNKEDKTVKLW
KVSERDKRPEGYNLKDEEGRLRDPATITTLRVPVLRPMDLMVEATPRRVFANAHTYHINSISVNSDYETYMSADDLRINLWNFEITNQSF
NIVDIKPANMEELTEVITAAEFHPHHCNTFVYSSSKGTIRLCDMRASALCDRHTKFFEEPEDPSNRSFFSEIISSISDVKFSHSGRYIMT
RDYLTVKVWDLNMENRPIETYQVHDYLRSKLCSLYENDCIFDKFECVWNGSDSVIMTGSYNNFFRMFDRNTKRDVTLEASRENSKPRAIL

--------------------------------------------------------------

Top

Fusion Gene PPI Analysis for ATXN7L1-PPP2R2B


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


Top

Related Drugs for ATXN7L1-PPP2R2B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for ATXN7L1-PPP2R2B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0087012Ataxia, Spinocerebellar1CTD_human
TgeneC0752120Spinocerebellar Ataxia Type 11CTD_human
TgeneC0752121Spinocerebellar Ataxia Type 21CTD_human
TgeneC0752122Spinocerebellar Ataxia Type 41CTD_human
TgeneC0752123Spinocerebellar Ataxia Type 51CTD_human
TgeneC0752124Spinocerebellar Ataxia Type 6 (disorder)1CTD_human
TgeneC0752125Spinocerebellar Ataxia Type 71CTD_human