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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:C9orf85-HPRT1 (FusionGDB2 ID:HG138241TG3251)

Fusion Gene Summary for C9orf85-HPRT1

check button Fusion gene summary
Fusion gene informationFusion gene name: C9orf85-HPRT1
Fusion gene ID: hg138241tg3251
HgeneTgene
Gene symbol

C9orf85

HPRT1

Gene ID

138241

3251

Gene namechromosome 9 open reading frame 85hypoxanthine phosphoribosyltransferase 1
Synonyms-HGPRT|HPRT
Cytomap('C9orf85')('HPRT1')

9q21.13

Xq26.2-q26.3

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein C9orf85hypoxanthine-guanine phosphoribosyltransferaseHGPRTasehypoxanthine-guanine phosphoribosyltransferase 1testicular tissue protein Li 89
Modification date2020031320200313
UniProtAcc

Q96MD7

.
Ensembl transtripts involved in fusion geneENST00000334731, ENST00000377031, 
ENST00000486911, 
Fusion gene scores* DoF score7 X 5 X 3=1055 X 5 X 3=75
# samples 75
** MAII scorelog2(7/105*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C9orf85 [Title/Abstract] AND HPRT1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC9orf85(74526752)-HPRT1(133620494), # samples:1
Anticipated loss of major functional domain due to fusion event.C9orf85-HPRT1 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.
C9orf85-HPRT1 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
TgeneHPRT1

GO:0006178

guanine salvage

19527031

TgeneHPRT1

GO:0043103

hypoxanthine salvage

19527031

TgeneHPRT1

GO:0046038

GMP catabolic process

19527031

TgeneHPRT1

GO:0046040

IMP metabolic process

19527031


check buttonFusion gene breakpoints across C9orf85 (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 HPRT1 (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-A4PDC9orf85chr9

74526752

+HPRT1chrX

133620494

+


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Fusion Gene ORF analysis for C9orf85-HPRT1

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-3UTRENST00000334731ENST00000462974C9orf85chr9

74526752

+HPRT1chrX

133620494

+
5CDS-3UTRENST00000377031ENST00000462974C9orf85chr9

74526752

+HPRT1chrX

133620494

+
5CDS-3UTRENST00000486911ENST00000462974C9orf85chr9

74526752

+HPRT1chrX

133620494

+
In-frameENST00000334731ENST00000298556C9orf85chr9

74526752

+HPRT1chrX

133620494

+
In-frameENST00000377031ENST00000298556C9orf85chr9

74526752

+HPRT1chrX

133620494

+
In-frameENST00000486911ENST00000298556C9orf85chr9

74526752

+HPRT1chrX

133620494

+

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)
ENST00000334731C9orf85chr974526752+ENST00000298556HPRT1chrX133620494+1222292178630150
ENST00000377031C9orf85chr974526752+ENST00000298556HPRT1chrX133620494+1222292178630150
ENST00000486911C9orf85chr974526752+ENST00000298556HPRT1chrX133620494+110617662514150

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
ENST00000334731ENST00000298556C9orf85chr974526752+HPRT1chrX133620494+0.0025988470.9974011
ENST00000377031ENST00000298556C9orf85chr974526752+HPRT1chrX133620494+0.0025988470.9974011
ENST00000486911ENST00000298556C9orf85chr974526752+HPRT1chrX133620494+0.0018622880.9981377

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Fusion Genomic Features for C9orf85-HPRT1


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)
C9orf85chr974526752+HPRT1chrX133620494+2.66E-060.9999974
C9orf85chr974526752+HPRT1chrX133620494+2.66E-060.9999974

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 C9orf85-HPRT1


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/chr9:74526752/chrX:133620494)
- 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
C9orf85

Q96MD7

.
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
TgeneHPRT1chr9:74526752chrX:133620494ENST0000029855629134_142106219.0Nucleotide bindingGMP
TgeneHPRT1chr9:74526752chrX:133620494ENST0000029855629186_188106219.0Nucleotide bindingGMP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneC9orf85chr9:74526752chrX:133620494ENST00000334731+1423_7934158.0Compositional biasNote=Lys-rich
HgeneC9orf85chr9:74526752chrX:133620494ENST00000377031+1423_7934180.0Compositional biasNote=Lys-rich


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Fusion Gene Sequence for C9orf85-HPRT1


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.
>12151_12151_1_C9orf85-HPRT1_C9orf85_chr9_74526752_ENST00000334731_HPRT1_chrX_133620494_ENST00000298556_length(transcript)=1222nt_BP=292nt
GGGAGGGCAGAGCGATGCTCTTTGACCTCCCAGAAGAGTCACGTGGGCTGACCCAGAGCCGGGGCGGAAAGGCTGCGTTTGTTTCTTCCG
GGTCATTGACAGAAGCGTCAATTCCTGGGAGTAGTTCGTTGGTTTTCTTTCCCCTCATCCTTTTGCCTGCTCCCGGCGAGGGGTGGCTTT
GATTTCGGCGATGAGCTCCCAGAAAGGCAACGTGGCTCGTTCCAGACCTCAGAAGCACCAGAATACGTTTAGCTTCAAAAATGACAAGTT
CGATAAAAGTGTGCAGACCAAGAATGACCAGTCAACAGGGGACATAAAAGTAATTGGTGGAGATGATCTCTCAACTTTAACTGGAAAGAA
TGTCTTGATTGTGGAAGATATAATTGACACTGGCAAAACAATGCAGACTTTGCTTTCCTTGGTCAGGCAGTATAATCCAAAGATGGTCAA
GGTCGCAAGCTTGCTGGTGAAAAGGACCCCACGAAGTGTTGGATATAAGCCAGACTTTGTTGGATTTGAAATTCCAGACAAGTTTGTTGT
AGGATATGCCCTTGACTATAATGAATACTTCAGGGATTTGAATCATGTTTGTGTCATTAGTGAAACTGGAAAAGCAAAATACAAAGCCTA
AGATGAGAGTTCAAGTTGAGTTTGGAAACATCTGGAGTCCTATTGACATCGCCAGTAAAATTATCAATGTTCTAGTTCTGTGGCCATCTG
CTTAGTAGAGCTTTTTGCATGTATCTTCTAAGAATTTTATCTGTTTTGTACTTTAGAAATGTCAGTTGCTGCATTCCTAAACTGTTTATT
TGCACTATGAGCCTATAGACTATCAGTTCCCTTTGGGCGGATTGTTGTTTAACTTGTAAATGAAAAAATTCTCTTAAACCACAGCACTAT
TGAGTGAAACATTGAACTCATATCTGTAAGAAATAAAGAGAAGATATATTAGTTTTTTAATTGGTATTTTAATTTTTATATATGCAGGAA
AGAATAGAAGTGATTGAATATTGTTAATTATACCACCGTGTGTTAGAAAAGTAAGAAGCAGTCAATTTTCACATCAAAGACAGCATCTAA
GAAGTTTTGTTCTGTCCTGGAATTATTTTAGTAGTGTTTCAGTAATGTTGACTGTATTTTCCAACTTGTTCAAATTATTACCAGTGAATC

>12151_12151_1_C9orf85-HPRT1_C9orf85_chr9_74526752_ENST00000334731_HPRT1_chrX_133620494_ENST00000298556_length(amino acids)=150AA_BP=38
MISAMSSQKGNVARSRPQKHQNTFSFKNDKFDKSVQTKNDQSTGDIKVIGGDDLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMV

--------------------------------------------------------------
>12151_12151_2_C9orf85-HPRT1_C9orf85_chr9_74526752_ENST00000377031_HPRT1_chrX_133620494_ENST00000298556_length(transcript)=1222nt_BP=292nt
GGGAGGGCAGAGCGATGCTCTTTGACCTCCCAGAAGAGTCACGTGGGCTGACCCAGAGCCGGGGCGGAAAGGCTGCGTTTGTTTCTTCCG
GGTCATTGACAGAAGCGTCAATTCCTGGGAGTAGTTCGTTGGTTTTCTTTCCCCTCATCCTTTTGCCTGCTCCCGGCGAGGGGTGGCTTT
GATTTCGGCGATGAGCTCCCAGAAAGGCAACGTGGCTCGTTCCAGACCTCAGAAGCACCAGAATACGTTTAGCTTCAAAAATGACAAGTT
CGATAAAAGTGTGCAGACCAAGAATGACCAGTCAACAGGGGACATAAAAGTAATTGGTGGAGATGATCTCTCAACTTTAACTGGAAAGAA
TGTCTTGATTGTGGAAGATATAATTGACACTGGCAAAACAATGCAGACTTTGCTTTCCTTGGTCAGGCAGTATAATCCAAAGATGGTCAA
GGTCGCAAGCTTGCTGGTGAAAAGGACCCCACGAAGTGTTGGATATAAGCCAGACTTTGTTGGATTTGAAATTCCAGACAAGTTTGTTGT
AGGATATGCCCTTGACTATAATGAATACTTCAGGGATTTGAATCATGTTTGTGTCATTAGTGAAACTGGAAAAGCAAAATACAAAGCCTA
AGATGAGAGTTCAAGTTGAGTTTGGAAACATCTGGAGTCCTATTGACATCGCCAGTAAAATTATCAATGTTCTAGTTCTGTGGCCATCTG
CTTAGTAGAGCTTTTTGCATGTATCTTCTAAGAATTTTATCTGTTTTGTACTTTAGAAATGTCAGTTGCTGCATTCCTAAACTGTTTATT
TGCACTATGAGCCTATAGACTATCAGTTCCCTTTGGGCGGATTGTTGTTTAACTTGTAAATGAAAAAATTCTCTTAAACCACAGCACTAT
TGAGTGAAACATTGAACTCATATCTGTAAGAAATAAAGAGAAGATATATTAGTTTTTTAATTGGTATTTTAATTTTTATATATGCAGGAA
AGAATAGAAGTGATTGAATATTGTTAATTATACCACCGTGTGTTAGAAAAGTAAGAAGCAGTCAATTTTCACATCAAAGACAGCATCTAA
GAAGTTTTGTTCTGTCCTGGAATTATTTTAGTAGTGTTTCAGTAATGTTGACTGTATTTTCCAACTTGTTCAAATTATTACCAGTGAATC

>12151_12151_2_C9orf85-HPRT1_C9orf85_chr9_74526752_ENST00000377031_HPRT1_chrX_133620494_ENST00000298556_length(amino acids)=150AA_BP=38
MISAMSSQKGNVARSRPQKHQNTFSFKNDKFDKSVQTKNDQSTGDIKVIGGDDLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMV

--------------------------------------------------------------
>12151_12151_3_C9orf85-HPRT1_C9orf85_chr9_74526752_ENST00000486911_HPRT1_chrX_133620494_ENST00000298556_length(transcript)=1106nt_BP=176nt
GGGAGTAGTTCGTTGGTTTTCTTTCCCCTCATCCTTTTGCCTGCTCCCGGCGAGGGGTGGCTTTGATTTCGGCGATGAGCTCCCAGAAAG
GCAACGTGGCTCGTTCCAGACCTCAGAAGCACCAGAATACGTTTAGCTTCAAAAATGACAAGTTCGATAAAAGTGTGCAGACCAAGAATG
ACCAGTCAACAGGGGACATAAAAGTAATTGGTGGAGATGATCTCTCAACTTTAACTGGAAAGAATGTCTTGATTGTGGAAGATATAATTG
ACACTGGCAAAACAATGCAGACTTTGCTTTCCTTGGTCAGGCAGTATAATCCAAAGATGGTCAAGGTCGCAAGCTTGCTGGTGAAAAGGA
CCCCACGAAGTGTTGGATATAAGCCAGACTTTGTTGGATTTGAAATTCCAGACAAGTTTGTTGTAGGATATGCCCTTGACTATAATGAAT
ACTTCAGGGATTTGAATCATGTTTGTGTCATTAGTGAAACTGGAAAAGCAAAATACAAAGCCTAAGATGAGAGTTCAAGTTGAGTTTGGA
AACATCTGGAGTCCTATTGACATCGCCAGTAAAATTATCAATGTTCTAGTTCTGTGGCCATCTGCTTAGTAGAGCTTTTTGCATGTATCT
TCTAAGAATTTTATCTGTTTTGTACTTTAGAAATGTCAGTTGCTGCATTCCTAAACTGTTTATTTGCACTATGAGCCTATAGACTATCAG
TTCCCTTTGGGCGGATTGTTGTTTAACTTGTAAATGAAAAAATTCTCTTAAACCACAGCACTATTGAGTGAAACATTGAACTCATATCTG
TAAGAAATAAAGAGAAGATATATTAGTTTTTTAATTGGTATTTTAATTTTTATATATGCAGGAAAGAATAGAAGTGATTGAATATTGTTA
ATTATACCACCGTGTGTTAGAAAAGTAAGAAGCAGTCAATTTTCACATCAAAGACAGCATCTAAGAAGTTTTGTTCTGTCCTGGAATTAT
TTTAGTAGTGTTTCAGTAATGTTGACTGTATTTTCCAACTTGTTCAAATTATTACCAGTGAATCTTTGTCAGCAGTTCCCTTTTAAATGC

>12151_12151_3_C9orf85-HPRT1_C9orf85_chr9_74526752_ENST00000486911_HPRT1_chrX_133620494_ENST00000298556_length(amino acids)=150AA_BP=38
MISAMSSQKGNVARSRPQKHQNTFSFKNDKFDKSVQTKNDQSTGDIKVIGGDDLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMV

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

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Fusion Gene PPI Analysis for C9orf85-HPRT1


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 C9orf85-HPRT1


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 C9orf85-HPRT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0023374Lesch-Nyhan Syndrome24CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0268117Gout, HPRT-Related16CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0013421Dystonia1GENOMICS_ENGLAND
TgeneC0740394Hyperuricemia1CTD_human
TgeneC1959897Alcohol consumption during pregnancy1PSYGENET