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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:ATXN7L1-UPF3A (FusionGDB2 ID:HG222255TG65110)

Fusion Gene Summary for ATXN7L1-UPF3A

check button Fusion gene summary
Fusion gene informationFusion gene name: ATXN7L1-UPF3A
Fusion gene ID: hg222255tg65110
HgeneTgene
Gene symbol

ATXN7L1

UPF3A

Gene ID

222255

65110

Gene nameataxin 7 like 1UPF3A regulator of nonsense mediated mRNA decay
SynonymsATXN7L4HUPF3A|RENT3A|UPF3
Cytomap('ATXN7L1')('UPF3A')

7q22.3

13q34

Type of geneprotein-codingprotein-coding
Descriptionataxin-7-like protein 1ataxin 7-like 4ataxin-7-like protein 4regulator of nonsense transcripts 3AUPF3 regulator of nonsense transcripts homolog AhUpf3nonsense mRNA reducing factor 3Aup-frameshift suppressor 3 homolog A
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000318724, ENST00000419735, 
ENST00000478915, ENST00000388807, 
ENST00000472910, ENST00000477775, 
Fusion gene scores* DoF score13 X 10 X 5=6507 X 7 X 5=245
# samples 137
** MAII scorelog2(13/650*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATXN7L1 [Title/Abstract] AND UPF3A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATXN7L1(105429049)-UPF3A(115051776), # samples:1
Anticipated loss of major functional domain due to fusion event.ATXN7L1-UPF3A 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-UPF3A 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-UPF3A 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.
ATXN7L1-UPF3A 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
TgeneUPF3A

GO:0000184

nuclear-transcribed mRNA catabolic process, nonsense-mediated decay

16601204

TgeneUPF3A

GO:0045727

positive regulation of translation

16601204


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 UPF3A (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
ChimerDB4STADTCGA-BR-A4J1ATXN7L1chr7

105429049

-UPF3Achr13

115051776

+


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Fusion Gene ORF analysis for ATXN7L1-UPF3A

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-intronENST00000318724ENST00000351487ATXN7L1chr7

105429049

-UPF3Achr13

115051776

+
5CDS-intronENST00000318724ENST00000475218ATXN7L1chr7

105429049

-UPF3Achr13

115051776

+
5CDS-intronENST00000419735ENST00000351487ATXN7L1chr7

105429049

-UPF3Achr13

115051776

+
5CDS-intronENST00000419735ENST00000475218ATXN7L1chr7

105429049

-UPF3Achr13

115051776

+
5CDS-intronENST00000478915ENST00000351487ATXN7L1chr7

105429049

-UPF3Achr13

115051776

+
5CDS-intronENST00000478915ENST00000475218ATXN7L1chr7

105429049

-UPF3Achr13

115051776

+
In-frameENST00000318724ENST00000375299ATXN7L1chr7

105429049

-UPF3Achr13

115051776

+
In-frameENST00000419735ENST00000375299ATXN7L1chr7

105429049

-UPF3Achr13

115051776

+
In-frameENST00000478915ENST00000375299ATXN7L1chr7

105429049

-UPF3Achr13

115051776

+
intron-3CDSENST00000388807ENST00000375299ATXN7L1chr7

105429049

-UPF3Achr13

115051776

+
intron-3CDSENST00000472910ENST00000375299ATXN7L1chr7

105429049

-UPF3Achr13

115051776

+
intron-3CDSENST00000477775ENST00000375299ATXN7L1chr7

105429049

-UPF3Achr13

115051776

+
intron-intronENST00000388807ENST00000351487ATXN7L1chr7

105429049

-UPF3Achr13

115051776

+
intron-intronENST00000388807ENST00000475218ATXN7L1chr7

105429049

-UPF3Achr13

115051776

+
intron-intronENST00000472910ENST00000351487ATXN7L1chr7

105429049

-UPF3Achr13

115051776

+
intron-intronENST00000472910ENST00000475218ATXN7L1chr7

105429049

-UPF3Achr13

115051776

+
intron-intronENST00000477775ENST00000351487ATXN7L1chr7

105429049

-UPF3Achr13

115051776

+
intron-intronENST00000477775ENST00000475218ATXN7L1chr7

105429049

-UPF3Achr13

115051776

+

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)
ENST00000419735ATXN7L1chr7105429049-ENST00000375299UPF3Achr13115051776+2302401461410454
ENST00000318724ATXN7L1chr7105429049-ENST00000375299UPF3Achr13115051776+2280379241388454
ENST00000478915ATXN7L1chr7105429049-ENST00000375299UPF3Achr13115051776+210620531214403

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
ENST00000419735ENST00000375299ATXN7L1chr7105429049-UPF3Achr13115051776+0.0008044870.9991955
ENST00000318724ENST00000375299ATXN7L1chr7105429049-UPF3Achr13115051776+0.0007629770.99923706
ENST00000478915ENST00000375299ATXN7L1chr7105429049-UPF3Achr13115051776+0.0017206310.99827933

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Fusion Genomic Features for ATXN7L1-UPF3A


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)
ATXN7L1chr7105429049-UPF3Achr13115051776+2.47E-050.9999753
ATXN7L1chr7105429049-UPF3Achr13115051776+2.47E-050.9999753

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

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 ATXN7L1-UPF3A


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/chr7:105429049/chr13:115051776)
- 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
TgeneUPF3Achr7:105429049chr13:115051776ENST0000035148709421_4340444.0RegionNote=Required for association with EIF4A3 and ECJ core components CASC3%2C MAGOH and RBM8A
TgeneUPF3Achr7:105429049chr13:115051776ENST00000375299210421_434140477.0RegionNote=Required for association with EIF4A3 and ECJ core components CASC3%2C MAGOH and RBM8A

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATXN7L1chr7:105429049chr13:115051776ENST00000318724-34364_417118147.0Compositional biasNote=Ser-rich
HgeneATXN7L1chr7:105429049chr13:115051776ENST00000318724-34536_847118147.0Compositional biasNote=Ser-rich
HgeneATXN7L1chr7:105429049chr13:115051776ENST00000419735-312364_417118862.0Compositional biasNote=Ser-rich
HgeneATXN7L1chr7:105429049chr13:115051776ENST00000419735-312536_847118862.0Compositional biasNote=Ser-rich
HgeneATXN7L1chr7:105429049chr13:115051776ENST00000477775-110364_4170739.0Compositional biasNote=Ser-rich
HgeneATXN7L1chr7:105429049chr13:115051776ENST00000477775-110536_8470739.0Compositional biasNote=Ser-rich
HgeneATXN7L1chr7:105429049chr13:115051776ENST00000318724-34284_351118147.0DomainSCA7
HgeneATXN7L1chr7:105429049chr13:115051776ENST00000419735-312284_351118862.0DomainSCA7
HgeneATXN7L1chr7:105429049chr13:115051776ENST00000477775-110284_3510739.0DomainSCA7


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Fusion Gene Sequence for ATXN7L1-UPF3A


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.
>8462_8462_1_ATXN7L1-UPF3A_ATXN7L1_chr7_105429049_ENST00000318724_UPF3A_chr13_115051776_ENST00000375299_length(transcript)=2280nt_BP=379nt
ACTCAATGTCGGAACGTTCCGAAGATGACGTCGGAGCGTTCTCGAATCCCGTGTCTCTCGGCTGCTGCTGCCGAAGGAACAGGGAAAAAG
CAACAAGAAGGAAGAGCAATGGCGACACTGGATCGCAAAGTGCCCAGTCCGGAGGCGTTTCTGGGCAAACCCTGGTCCTCCTGGATCGAC
GCCGCCAAATTACACTGCTCCGACAATGTAGATTTAGAAGAGGCTGGAAAAGAGGGTGGAAAAAGCAGGGAGGTTATGAGGCTTAATAAA
GAAGATATGCACTTATTTGGCCATTACCCAGCACATGACGACTTCTATCTCGTAGTGTGCAGTGCCTGTAACCAGGTCGTCAAGCCACAG
GTTTTCCAGTCGCACTGCGGCCTAGAATATCCTGCAGTGGTAGAGTTTGCTCCATTCCAGAAGATAGCCAAAAAGAAGCTGAGAAAAAAA
GATGCCAAGACTGGAAGCATCGAAGATGATCCAGAATATAAGAAGTTTTTAGAAACCTACTGTGTGGAGGAAGAGAAGACCAGTGCCAAC
CCTGAGACTCTGCTGGGGGAGATGGAGGCGAAGACAAGAGAGCTCATTGCTAGAAGAACCACACCTCTTTTGGAATATATTAAAAATAGA
AAATTAGAAAAGCAGAGAATTCGAGAAGAGAAGCGAGAAGAACGGAGGAGGAGAGAGTTAGAAAAGAAACGTTTGCGGGAAGAGGAAAAA
AGAAGAAGAAGAGAAGAAGAAAGATGCAAAAAAAAAGAGACAGATAAACAGAAGAAAATTGCAGAGAAAGAAGTAAGGATTAAGCTTCTT
AAGAAACCAGAAAAGGGAGAGGAACCAACCACAGAGAAACCAAAAGAAAGAGGAGAGGAGATTGATACTGGAGGTGGCAAGCAGGAATCC
TGTGCCCCCGGTGCAGTCGTAAAAGCCAGGCCCATGGAAGGCTCGCTGGAGGAGCCCCAGGAGACGTCACACAGCGGCAGTGATAAAGAG
CACAGGGATGTGGAGAGATCTCAAGAACAAGAATCTGAAGCACAAAGATACCATGTGGATGACGGCAGGAGGCACAGAGCTCACCACGAG
CCTGAACGGCTTTCCAGAAGGAGTGAGGATGAGCAGAGATGGGGGAAAGGACCTGGCCAAGACAGAGGGAAGAAGGGGAGCCAGGACAGC
GGGGCTCCGGGGGAGGCCATGGAGAGACTGGGAAGAGCGCAGAGGTGTGACGACAGTCCAGCACCCAGAAAAGAGCGACTGGCAAACAAG
GACCGGCCAGCCTTGCAGCTGTATGATCCAGGAGCTCGCTTCCGAGCGCGAGAGTGTGGCGGAAACAGGAGGATCTGCAAGGCAGAAGGT
TCGGGGACTGGTCCTGAGAAGAGGGAAGAGGCAGAGTGAGTCACTGCACGCACCTGGCCTCCATGGACGAGCAAGGGCATCCCAGAAACG
TGTAAATGACCCCGAGTGTGACTGGGAAGGAGAACTTATTCCTTACCAGGAAACTGGAAGCTAAAAATACAGAGGGTGACGTAGAAACAC
GCAGAAACCATTCTAAAGAAAGTAGTGATCTTGTATTAAATTGAGCAGAATTCTCACAGATTTTACCATTCCTGTTATAAACTAGTATTT
GTTGTTTAGCCAAAACAGAAAATGATTTCCACTGGACAGTAGAAAAATATGTGTAAAATAGGGAAGAAAGTTAGTATTGGATCAGTGTGA
GTCCTGAAGCACTTTCAGTGCTGTGAGAACGACATCCACTTTGGGTTTCATTCGTTTGTAAGCAGAGGAGCTGTCAGTCACTCGTGCTTC
TCGGTGGCCTCTGAGCCATGGTGTCGAGTGAAGAGTAGTTCTTGTTTGTTACAACCTTTGTGAGTCAGCCATGCCCGCAAAGCGTGCTGT
GTTTTAGTCCTGGTAGGAATATTTATCAGAGTTCACACTATATAAAACCCAACAGCTTCAACTATTGCCCTTTCAACAGTTTTGCCACTG
ACCGGATAGAAACGGTTTCAGTCTCTGGATGGATGTGTTTGTGGTTTGTAACCATTACGGTTTAAACCATGGTTTAAGAATTTGCCCAAA
TAACAGAAATTTTGTTCGGGAAGGGATAAACTAGATATAGCATACAGAGCCTGTTTTTGAGTTTTAGATACTTTATTTGTAAATAACTTA
AAATAGCTTTCTGAAACCGTGCATTCTGTAGTTTCTTCCTTTCAGTGAAATTGCTAAATGTCAATGTATTTTTGGCACTGCGATTTTAAC
CATTTATTAAATAAAAATTTTGTTAAAGAA

>8462_8462_1_ATXN7L1-UPF3A_ATXN7L1_chr7_105429049_ENST00000318724_UPF3A_chr13_115051776_ENST00000375299_length(amino acids)=454AA_BP=118
MTSERSRIPCLSAAAAEGTGKKQQEGRAMATLDRKVPSPEAFLGKPWSSWIDAAKLHCSDNVDLEEAGKEGGKSREVMRLNKEDMHLFGH
YPAHDDFYLVVCSACNQVVKPQVFQSHCGLEYPAVVEFAPFQKIAKKKLRKKDAKTGSIEDDPEYKKFLETYCVEEEKTSANPETLLGEM
EAKTRELIARRTTPLLEYIKNRKLEKQRIREEKREERRRRELEKKRLREEEKRRRREEERCKKKETDKQKKIAEKEVRIKLLKKPEKGEE
PTTEKPKERGEEIDTGGGKQESCAPGAVVKARPMEGSLEEPQETSHSGSDKEHRDVERSQEQESEAQRYHVDDGRRHRAHHEPERLSRRS
EDEQRWGKGPGQDRGKKGSQDSGAPGEAMERLGRAQRCDDSPAPRKERLANKDRPALQLYDPGARFRARECGGNRRICKAEGSGTGPEKR
EEAE

--------------------------------------------------------------
>8462_8462_2_ATXN7L1-UPF3A_ATXN7L1_chr7_105429049_ENST00000419735_UPF3A_chr13_115051776_ENST00000375299_length(transcript)=2302nt_BP=401nt
CCCTCCCTCCCCCTTTCAGAACACTCAATGTCGGAACGTTCCGAAGATGACGTCGGAGCGTTCTCGAATCCCGTGTCTCTCGGCTGCTGC
TGCCGAAGGAACAGGGAAAAAGCAACAAGAAGGAAGAGCAATGGCGACACTGGATCGCAAAGTGCCCAGTCCGGAGGCGTTTCTGGGCAA
ACCCTGGTCCTCCTGGATCGACGCCGCCAAATTACACTGCTCCGACAATGTAGATTTAGAAGAGGCTGGAAAAGAGGGTGGAAAAAGCAG
GGAGGTTATGAGGCTTAATAAAGAAGATATGCACTTATTTGGCCATTACCCAGCACATGACGACTTCTATCTCGTAGTGTGCAGTGCCTG
TAACCAGGTCGTCAAGCCACAGGTTTTCCAGTCGCACTGCGGCCTAGAATATCCTGCAGTGGTAGAGTTTGCTCCATTCCAGAAGATAGC
CAAAAAGAAGCTGAGAAAAAAAGATGCCAAGACTGGAAGCATCGAAGATGATCCAGAATATAAGAAGTTTTTAGAAACCTACTGTGTGGA
GGAAGAGAAGACCAGTGCCAACCCTGAGACTCTGCTGGGGGAGATGGAGGCGAAGACAAGAGAGCTCATTGCTAGAAGAACCACACCTCT
TTTGGAATATATTAAAAATAGAAAATTAGAAAAGCAGAGAATTCGAGAAGAGAAGCGAGAAGAACGGAGGAGGAGAGAGTTAGAAAAGAA
ACGTTTGCGGGAAGAGGAAAAAAGAAGAAGAAGAGAAGAAGAAAGATGCAAAAAAAAAGAGACAGATAAACAGAAGAAAATTGCAGAGAA
AGAAGTAAGGATTAAGCTTCTTAAGAAACCAGAAAAGGGAGAGGAACCAACCACAGAGAAACCAAAAGAAAGAGGAGAGGAGATTGATAC
TGGAGGTGGCAAGCAGGAATCCTGTGCCCCCGGTGCAGTCGTAAAAGCCAGGCCCATGGAAGGCTCGCTGGAGGAGCCCCAGGAGACGTC
ACACAGCGGCAGTGATAAAGAGCACAGGGATGTGGAGAGATCTCAAGAACAAGAATCTGAAGCACAAAGATACCATGTGGATGACGGCAG
GAGGCACAGAGCTCACCACGAGCCTGAACGGCTTTCCAGAAGGAGTGAGGATGAGCAGAGATGGGGGAAAGGACCTGGCCAAGACAGAGG
GAAGAAGGGGAGCCAGGACAGCGGGGCTCCGGGGGAGGCCATGGAGAGACTGGGAAGAGCGCAGAGGTGTGACGACAGTCCAGCACCCAG
AAAAGAGCGACTGGCAAACAAGGACCGGCCAGCCTTGCAGCTGTATGATCCAGGAGCTCGCTTCCGAGCGCGAGAGTGTGGCGGAAACAG
GAGGATCTGCAAGGCAGAAGGTTCGGGGACTGGTCCTGAGAAGAGGGAAGAGGCAGAGTGAGTCACTGCACGCACCTGGCCTCCATGGAC
GAGCAAGGGCATCCCAGAAACGTGTAAATGACCCCGAGTGTGACTGGGAAGGAGAACTTATTCCTTACCAGGAAACTGGAAGCTAAAAAT
ACAGAGGGTGACGTAGAAACACGCAGAAACCATTCTAAAGAAAGTAGTGATCTTGTATTAAATTGAGCAGAATTCTCACAGATTTTACCA
TTCCTGTTATAAACTAGTATTTGTTGTTTAGCCAAAACAGAAAATGATTTCCACTGGACAGTAGAAAAATATGTGTAAAATAGGGAAGAA
AGTTAGTATTGGATCAGTGTGAGTCCTGAAGCACTTTCAGTGCTGTGAGAACGACATCCACTTTGGGTTTCATTCGTTTGTAAGCAGAGG
AGCTGTCAGTCACTCGTGCTTCTCGGTGGCCTCTGAGCCATGGTGTCGAGTGAAGAGTAGTTCTTGTTTGTTACAACCTTTGTGAGTCAG
CCATGCCCGCAAAGCGTGCTGTGTTTTAGTCCTGGTAGGAATATTTATCAGAGTTCACACTATATAAAACCCAACAGCTTCAACTATTGC
CCTTTCAACAGTTTTGCCACTGACCGGATAGAAACGGTTTCAGTCTCTGGATGGATGTGTTTGTGGTTTGTAACCATTACGGTTTAAACC
ATGGTTTAAGAATTTGCCCAAATAACAGAAATTTTGTTCGGGAAGGGATAAACTAGATATAGCATACAGAGCCTGTTTTTGAGTTTTAGA
TACTTTATTTGTAAATAACTTAAAATAGCTTTCTGAAACCGTGCATTCTGTAGTTTCTTCCTTTCAGTGAAATTGCTAAATGTCAATGTA
TTTTTGGCACTGCGATTTTAACCATTTATTAAATAAAAATTTTGTTAAAGAA

>8462_8462_2_ATXN7L1-UPF3A_ATXN7L1_chr7_105429049_ENST00000419735_UPF3A_chr13_115051776_ENST00000375299_length(amino acids)=454AA_BP=118
MTSERSRIPCLSAAAAEGTGKKQQEGRAMATLDRKVPSPEAFLGKPWSSWIDAAKLHCSDNVDLEEAGKEGGKSREVMRLNKEDMHLFGH
YPAHDDFYLVVCSACNQVVKPQVFQSHCGLEYPAVVEFAPFQKIAKKKLRKKDAKTGSIEDDPEYKKFLETYCVEEEKTSANPETLLGEM
EAKTRELIARRTTPLLEYIKNRKLEKQRIREEKREERRRRELEKKRLREEEKRRRREEERCKKKETDKQKKIAEKEVRIKLLKKPEKGEE
PTTEKPKERGEEIDTGGGKQESCAPGAVVKARPMEGSLEEPQETSHSGSDKEHRDVERSQEQESEAQRYHVDDGRRHRAHHEPERLSRRS
EDEQRWGKGPGQDRGKKGSQDSGAPGEAMERLGRAQRCDDSPAPRKERLANKDRPALQLYDPGARFRARECGGNRRICKAEGSGTGPEKR
EEAE

--------------------------------------------------------------
>8462_8462_3_ATXN7L1-UPF3A_ATXN7L1_chr7_105429049_ENST00000478915_UPF3A_chr13_115051776_ENST00000375299_length(transcript)=2106nt_BP=205nt
GCAATGGCGACACTGGATCGCAAAGTGCCCAGTCCGGAGGCGTTTCTGGGCAAACCCTGGTCCTCCTGGATCGACGCCGCCAAATTACAC
TGCTCCGACAATATGCACTTATTTGGCCATTACCCAGCACATGACGACTTCTATCTCGTAGTGTGCAGTGCCTGTAACCAGGTCGTCAAG
CCACAGGTTTTCCAGTCGCACTGCGGCCTAGAATATCCTGCAGTGGTAGAGTTTGCTCCATTCCAGAAGATAGCCAAAAAGAAGCTGAGA
AAAAAAGATGCCAAGACTGGAAGCATCGAAGATGATCCAGAATATAAGAAGTTTTTAGAAACCTACTGTGTGGAGGAAGAGAAGACCAGT
GCCAACCCTGAGACTCTGCTGGGGGAGATGGAGGCGAAGACAAGAGAGCTCATTGCTAGAAGAACCACACCTCTTTTGGAATATATTAAA
AATAGAAAATTAGAAAAGCAGAGAATTCGAGAAGAGAAGCGAGAAGAACGGAGGAGGAGAGAGTTAGAAAAGAAACGTTTGCGGGAAGAG
GAAAAAAGAAGAAGAAGAGAAGAAGAAAGATGCAAAAAAAAAGAGACAGATAAACAGAAGAAAATTGCAGAGAAAGAAGTAAGGATTAAG
CTTCTTAAGAAACCAGAAAAGGGAGAGGAACCAACCACAGAGAAACCAAAAGAAAGAGGAGAGGAGATTGATACTGGAGGTGGCAAGCAG
GAATCCTGTGCCCCCGGTGCAGTCGTAAAAGCCAGGCCCATGGAAGGCTCGCTGGAGGAGCCCCAGGAGACGTCACACAGCGGCAGTGAT
AAAGAGCACAGGGATGTGGAGAGATCTCAAGAACAAGAATCTGAAGCACAAAGATACCATGTGGATGACGGCAGGAGGCACAGAGCTCAC
CACGAGCCTGAACGGCTTTCCAGAAGGAGTGAGGATGAGCAGAGATGGGGGAAAGGACCTGGCCAAGACAGAGGGAAGAAGGGGAGCCAG
GACAGCGGGGCTCCGGGGGAGGCCATGGAGAGACTGGGAAGAGCGCAGAGGTGTGACGACAGTCCAGCACCCAGAAAAGAGCGACTGGCA
AACAAGGACCGGCCAGCCTTGCAGCTGTATGATCCAGGAGCTCGCTTCCGAGCGCGAGAGTGTGGCGGAAACAGGAGGATCTGCAAGGCA
GAAGGTTCGGGGACTGGTCCTGAGAAGAGGGAAGAGGCAGAGTGAGTCACTGCACGCACCTGGCCTCCATGGACGAGCAAGGGCATCCCA
GAAACGTGTAAATGACCCCGAGTGTGACTGGGAAGGAGAACTTATTCCTTACCAGGAAACTGGAAGCTAAAAATACAGAGGGTGACGTAG
AAACACGCAGAAACCATTCTAAAGAAAGTAGTGATCTTGTATTAAATTGAGCAGAATTCTCACAGATTTTACCATTCCTGTTATAAACTA
GTATTTGTTGTTTAGCCAAAACAGAAAATGATTTCCACTGGACAGTAGAAAAATATGTGTAAAATAGGGAAGAAAGTTAGTATTGGATCA
GTGTGAGTCCTGAAGCACTTTCAGTGCTGTGAGAACGACATCCACTTTGGGTTTCATTCGTTTGTAAGCAGAGGAGCTGTCAGTCACTCG
TGCTTCTCGGTGGCCTCTGAGCCATGGTGTCGAGTGAAGAGTAGTTCTTGTTTGTTACAACCTTTGTGAGTCAGCCATGCCCGCAAAGCG
TGCTGTGTTTTAGTCCTGGTAGGAATATTTATCAGAGTTCACACTATATAAAACCCAACAGCTTCAACTATTGCCCTTTCAACAGTTTTG
CCACTGACCGGATAGAAACGGTTTCAGTCTCTGGATGGATGTGTTTGTGGTTTGTAACCATTACGGTTTAAACCATGGTTTAAGAATTTG
CCCAAATAACAGAAATTTTGTTCGGGAAGGGATAAACTAGATATAGCATACAGAGCCTGTTTTTGAGTTTTAGATACTTTATTTGTAAAT
AACTTAAAATAGCTTTCTGAAACCGTGCATTCTGTAGTTTCTTCCTTTCAGTGAAATTGCTAAATGTCAATGTATTTTTGGCACTGCGAT
TTTAACCATTTATTAAATAAAAATTTTGTTAAAGAA

>8462_8462_3_ATXN7L1-UPF3A_ATXN7L1_chr7_105429049_ENST00000478915_UPF3A_chr13_115051776_ENST00000375299_length(amino acids)=403AA_BP=67
MATLDRKVPSPEAFLGKPWSSWIDAAKLHCSDNMHLFGHYPAHDDFYLVVCSACNQVVKPQVFQSHCGLEYPAVVEFAPFQKIAKKKLRK
KDAKTGSIEDDPEYKKFLETYCVEEEKTSANPETLLGEMEAKTRELIARRTTPLLEYIKNRKLEKQRIREEKREERRRRELEKKRLREEE
KRRRREEERCKKKETDKQKKIAEKEVRIKLLKKPEKGEEPTTEKPKERGEEIDTGGGKQESCAPGAVVKARPMEGSLEEPQETSHSGSDK
EHRDVERSQEQESEAQRYHVDDGRRHRAHHEPERLSRRSEDEQRWGKGPGQDRGKKGSQDSGAPGEAMERLGRAQRCDDSPAPRKERLAN
KDRPALQLYDPGARFRARECGGNRRICKAEGSGTGPEKREEAE

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Fusion Gene PPI Analysis for ATXN7L1-UPF3A


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 ATXN7L1-UPF3A


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 ATXN7L1-UPF3A


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