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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:CCDC91-PPFIBP1 (FusionGDB2 ID:13999)

Fusion Gene Summary for CCDC91-PPFIBP1

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC91-PPFIBP1
Fusion gene ID: 13999
HgeneTgene
Gene symbol

CCDC91

PPFIBP1

Gene ID

55297

8496

Gene namecoiled-coil domain containing 91PPFIA binding protein 1
SynonymsHSD8|p56L2|SGT2|hSGT2|hSgt2p
Cytomap

12p11.22

12p11.23-p11.22

Type of geneprotein-codingprotein-coding
Descriptioncoiled-coil domain-containing protein 91GGA-binding partnerp56 accessory proteinliprin-beta-1PTPRF interacting protein, binding protein 1 (liprin beta 1)PTPRF-interacting protein-binding protein 1liprin related proteinprotein-tyrosine phosphatase receptor-type f polypeptide-interacting protein-binding protein 1
Modification date2020031320200313
UniProtAcc

Q7Z6B0

Q86W92

Ensembl transtripts involved in fusion geneENST00000539107, ENST00000545336, 
ENST00000306172, ENST00000381256, 
ENST00000381259, ENST00000540401, 
ENST00000541633, ENST00000228425, 
ENST00000318304, ENST00000535047, 
ENST00000537927, ENST00000542629, 
ENST00000545334, 
Fusion gene scores* DoF score17 X 9 X 9=13779 X 11 X 6=594
# samples 1713
** MAII scorelog2(17/1377*10)=-3.01792190799726
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/594*10)=-2.19195130777231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CCDC91 [Title/Abstract] AND PPFIBP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCCDC91(28343574)-PPFIBP1(27731085), # samples:1
PPFIBP1(27788048)-CCDC91(28515370), # samples:1
PPFIBP1(27731172)-CCDC91(28603094), # samples:1
Anticipated loss of major functional domain due to fusion event.PPFIBP1-CCDC91 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
PPFIBP1-CCDC91 seems lost the major protein functional domain in Hgene partner, which is a essential gene 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

check buttonFusion gene breakpoints across CCDC91 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across PPFIBP1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4OVTCGA-09-2051-01ACCDC91chr12

28343574

+PPFIBP1chr12

27731085

+


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Fusion Gene ORF analysis for CCDC91-PPFIBP1

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
5UTR-3UTRENST00000539107ENST00000541633CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
5UTR-3UTRENST00000545336ENST00000541633CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
5UTR-5UTRENST00000539107ENST00000228425CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
5UTR-5UTRENST00000539107ENST00000318304CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
5UTR-5UTRENST00000539107ENST00000535047CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
5UTR-5UTRENST00000539107ENST00000537927CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
5UTR-5UTRENST00000539107ENST00000542629CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
5UTR-5UTRENST00000539107ENST00000545334CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
5UTR-5UTRENST00000545336ENST00000228425CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
5UTR-5UTRENST00000545336ENST00000318304CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
5UTR-5UTRENST00000545336ENST00000535047CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
5UTR-5UTRENST00000545336ENST00000537927CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
5UTR-5UTRENST00000545336ENST00000542629CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
5UTR-5UTRENST00000545336ENST00000545334CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-3UTRENST00000306172ENST00000541633CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-3UTRENST00000381256ENST00000541633CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-3UTRENST00000381259ENST00000541633CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-3UTRENST00000540401ENST00000541633CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000306172ENST00000228425CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000306172ENST00000318304CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000306172ENST00000535047CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000306172ENST00000537927CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000306172ENST00000542629CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000306172ENST00000545334CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000381256ENST00000228425CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000381256ENST00000318304CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000381256ENST00000535047CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000381256ENST00000537927CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000381256ENST00000542629CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000381256ENST00000545334CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000381259ENST00000228425CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000381259ENST00000318304CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000381259ENST00000535047CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000381259ENST00000537927CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000381259ENST00000542629CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000381259ENST00000545334CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000540401ENST00000228425CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000540401ENST00000318304CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000540401ENST00000535047CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000540401ENST00000537927CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000540401ENST00000542629CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+
intron-5UTRENST00000540401ENST00000545334CCDC91chr12

28343574

+PPFIBP1chr12

27731085

+

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 CCDC91-PPFIBP1


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)
CCDC91chr1228343574+PPFIBP1chr1227731084+1.15E-050.99998856
CCDC91chr1228343574+PPFIBP1chr1227731084+1.15E-050.99998856

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.

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 CCDC91-PPFIBP1


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/:28343574/:27731085)
- 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
CCDC91

Q7Z6B0

PPFIBP1

Q86W92

FUNCTION: Involved in the regulation of membrane traffic through the trans-Golgi network (TGN). Functions in close cooperation with the GGAs in the sorting of hydrolases to lysosomes. {ECO:0000269|PubMed:17596511}.FUNCTION: May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A. {ECO:0000269|PubMed:9624153}.

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 CCDC91-PPFIBP1


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 CCDC91-PPFIBP1


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 CCDC91-PPFIBP1


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 CCDC91-PPFIBP1


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