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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:PIGU-UQCC1 (FusionGDB2 ID:65315)

Fusion Gene Summary for PIGU-UQCC1

check button Fusion gene summary
Fusion gene informationFusion gene name: PIGU-UQCC1
Fusion gene ID: 65315
HgeneTgene
Gene symbol

PIGU

UQCC1

Gene ID

128869

55245

Gene namephosphatidylinositol glycan anchor biosynthesis class Uubiquinol-cytochrome c reductase complex assembly factor 1
SynonymsCDC91L1|GAB1|GPIBD21BFZB|C20orf44|CBP3|UQCC
Cytomap

20q11.22

20q11.22

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylinositol glycan anchor biosynthesis class U proteinCDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1GPI transamidase component PIG-UGPI transamidase subunitcell division cycle 91-like 1 proteincell division cycle protein 91-liubiquinol-cytochrome-c reductase complex assembly factor 1bFGF-repressed Zic-binding proteinbasic FGF-repressed Zic-binding proteincytochrome B protein synthesis 3 homologubiquinol-cytochrome c reductase complex chaperone CBP3 homolog
Modification date2020032220200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000374820, ENST00000452740, 
ENST00000480175, 
ENST00000491125, 
ENST00000359226, ENST00000374377, 
ENST00000374380, ENST00000374384, 
ENST00000374385, ENST00000397554, 
ENST00000397556, ENST00000407996, 
ENST00000540457, ENST00000542501, 
ENST00000349714, 
Fusion gene scores* DoF score18 X 13 X 10=23409 X 6 X 5=270
# samples 209
** MAII scorelog2(20/2340*10)=-3.54843662469604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/270*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PIGU [Title/Abstract] AND UQCC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPIGU(33203846)-UQCC1(33954417), # samples:1
Anticipated loss of major functional domain due to fusion event.PIGU-UQCC1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
PIGU-UQCC1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
PIGU-UQCC1 seems lost the major protein functional domain in Tgene 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
HgenePIGU

GO:0006506

GPI anchor biosynthetic process

15034568

HgenePIGU

GO:0046425

regulation of JAK-STAT cascade

15034568

TgeneUQCC1

GO:0034551

mitochondrial respiratory chain complex III assembly

24385928

TgeneUQCC1

GO:0070131

positive regulation of mitochondrial translation

24385928


check buttonFusion gene breakpoints across PIGU (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 UQCC1 (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 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
ChimerDB4BRCATCGA-BH-A0AU-01APIGUchr20

33203846

-UQCC1chr20

33954417

-


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Fusion Gene ORF analysis for PIGU-UQCC1

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-5UTRENST00000374820ENST00000491125PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-5UTRENST00000452740ENST00000491125PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-intronENST00000374820ENST00000359226PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-intronENST00000374820ENST00000374377PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-intronENST00000374820ENST00000374380PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-intronENST00000374820ENST00000374384PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-intronENST00000374820ENST00000374385PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-intronENST00000374820ENST00000397554PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-intronENST00000374820ENST00000397556PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-intronENST00000374820ENST00000407996PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-intronENST00000374820ENST00000540457PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-intronENST00000374820ENST00000542501PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-intronENST00000452740ENST00000359226PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-intronENST00000452740ENST00000374377PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-intronENST00000452740ENST00000374380PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-intronENST00000452740ENST00000374384PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-intronENST00000452740ENST00000374385PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-intronENST00000452740ENST00000397554PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-intronENST00000452740ENST00000397556PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-intronENST00000452740ENST00000407996PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-intronENST00000452740ENST00000540457PIGUchr20

33203846

-UQCC1chr20

33954417

-
5CDS-intronENST00000452740ENST00000542501PIGUchr20

33203846

-UQCC1chr20

33954417

-
Frame-shiftENST00000374820ENST00000349714PIGUchr20

33203846

-UQCC1chr20

33954417

-
In-frameENST00000452740ENST00000349714PIGUchr20

33203846

-UQCC1chr20

33954417

-
intron-3CDSENST00000480175ENST00000349714PIGUchr20

33203846

-UQCC1chr20

33954417

-
intron-5UTRENST00000480175ENST00000491125PIGUchr20

33203846

-UQCC1chr20

33954417

-
intron-intronENST00000480175ENST00000359226PIGUchr20

33203846

-UQCC1chr20

33954417

-
intron-intronENST00000480175ENST00000374377PIGUchr20

33203846

-UQCC1chr20

33954417

-
intron-intronENST00000480175ENST00000374380PIGUchr20

33203846

-UQCC1chr20

33954417

-
intron-intronENST00000480175ENST00000374384PIGUchr20

33203846

-UQCC1chr20

33954417

-
intron-intronENST00000480175ENST00000374385PIGUchr20

33203846

-UQCC1chr20

33954417

-
intron-intronENST00000480175ENST00000397554PIGUchr20

33203846

-UQCC1chr20

33954417

-
intron-intronENST00000480175ENST00000397556PIGUchr20

33203846

-UQCC1chr20

33954417

-
intron-intronENST00000480175ENST00000407996PIGUchr20

33203846

-UQCC1chr20

33954417

-
intron-intronENST00000480175ENST00000540457PIGUchr20

33203846

-UQCC1chr20

33954417

-
intron-intronENST00000480175ENST00000542501PIGUchr20

33203846

-UQCC1chr20

33954417

-

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)
ENST00000452740PIGUchr2033203846-ENST00000349714UQCC1chr2033954417-24906270668222

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
ENST00000452740ENST00000349714PIGUchr2033203846-UQCC1chr2033954417-0.0076053440.9923947

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Fusion Genomic Features for PIGU-UQCC1


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

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.

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Fusion Protein Features for PIGU-UQCC1


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/chr20:33203846/chr20:33954417)
- 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
HgenePIGUchr20:33203846chr20:33954417ENST00000374820-611166_186189416.0TransmembraneHelical
HgenePIGUchr20:33203846chr20:33954417ENST00000374820-61166_86189416.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePIGUchr20:33203846chr20:33954417ENST00000374820-611269_289189416.0RegionNote=May be involved in recognition of long-chain fatty acids in GPI
HgenePIGUchr20:33203846chr20:33954417ENST00000374820-611188_208189416.0TransmembraneHelical
HgenePIGUchr20:33203846chr20:33954417ENST00000374820-611237_257189416.0TransmembraneHelical
HgenePIGUchr20:33203846chr20:33954417ENST00000374820-611259_279189416.0TransmembraneHelical
HgenePIGUchr20:33203846chr20:33954417ENST00000374820-611286_306189416.0TransmembraneHelical
HgenePIGUchr20:33203846chr20:33954417ENST00000374820-611313_333189416.0TransmembraneHelical
HgenePIGUchr20:33203846chr20:33954417ENST00000374820-611355_375189416.0TransmembraneHelical
HgenePIGUchr20:33203846chr20:33954417ENST00000374820-611386_406189416.0TransmembraneHelical


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Fusion Gene Sequence for PIGU-UQCC1


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.
>65315_65315_1_PIGU-UQCC1_PIGU_chr20_33203846_ENST00000452740_UQCC1_chr20_33954417_ENST00000349714_length(transcript)=2490nt_BP=627nt
ATGGCGGCTCCCTTGGTCCTGGTGCTGGTGGTGGCTGTGACAGTGCGGGCGGCCTTGTTCCGCTCCAGTCTGGCCGAGTTCATTTCCGAG
CGGGTGGAGGTGGTGTCCCCACTGAGCTCTTGGAAGAGAGTGGTTGAAGGCCTTTCACTGTTGGACTTGGGAGTATCTCCGTATTCTGGA
GCAGTATTTCATGAAACTCCATTAATAATATACCTCTTTCATTTCCTAATTGACTATGCTGAATTGGTGTTTATGATAACTGATGCACTC
ACTGCTATTGCCCTGTATTTTGCAATCCAGGACTTCAATAAAGTTGTGTTTAAAAAGCAGAAACTCCTCCTAGAACTGGACCAGTATGCC
CCAGATGTGGCCGAACTCATCCGGACCCCTATGGAAATGCGTTACATCCCTTTGAAAGTGGCCCTGTTCTATCTCTTAAATCCTTACACG
ATTTTGTCTTGTGTTGCCAAGTCTACCTGTGCCATCAACAACACCCTCATTGCTTTCTTCATTTTGACTACGATAAAAGGCAGTGCTTTC
CTCAGTGCTATTTTTCTTGCCTTAGCGACATACCAGTCTCTGTACCCACTCACCTTGTTTGTCCCAGGACTCCTCTATCTCCTCCAGGGT
GTCAGATGCCTGATACATTCAATTCATGGTTTCTTATAACCCTACTCCACGTCTGGATGTGTCTAGTCCGAATGAAGCAGGAAGGCCGGA
GTGGGAAGTACATGTGTCGTATCATAGTTCATTTTATGTGGGAGGATGTTCAGCAGCGCGGCAGAGTCATGGGGGTTAATCCCTATATCC
TGAAGAAGAACATGATCCTCATGACAAATCATTTCTATGCAGCGATCTTGGGATATGATGAGGGGATCCTTTCAGATGATCATGGGCTGG
CCGCTGCCCTCTGGAGAACCTTCTTCAACCGGAAATGTGAAGACCCTCGACATCTTGAATTGCTGGTAGAGTATGTGAGGAAACAGATAC
AGTACCTGGACTCCATGAACGGGGAGGATCTGCTTCTGACAGGGGAGGTGAGCTGGCGCCCTCTAGTGGAGAAGAATCCTCAGAGCATCC
TGAAGCCCCATTCTCCGACTTACAACGACGAGGGACTTTGATGGGCTGGGCCCTCCGCACGGCCCGCCAGCTGGCTTCGAGGAACCTCCA
GGAGAGAAGTGCCTGTTGGTCCAGGACCCTGCAGAAAGTGGCCTGAACTGACCTCTGAACAGCATCTGTCAAATACCTGGCCCCATTTGT
GTTGAGTTTCCTCTTAGTGTGCCCAGGAGTCTGATCTGCTGGGGTACAGGGCTGGGAGAACCCCTAGCTCTCCCGGGGTGTCCTCTCCCT
TAGGGGAAGCCCCGAGTGAGAGTCCCCCAGCACACACTCCCCAACCCCCTCCAGCAACTACATGTGACTGATAGCTTTTCCCAAAGGCCA
AGGAAGGGATGGTGTAGGTTCAAAAGGGAAACCCCCCAGGGCCTGCTGTGGCCTAGGAGCAGATTGTAATGCTGCCGAGTCCGGTCGGTG
ACCACGCGTTGTCCCTCGGCTTTCAGCCATGGGGTTGAGTTGGCCATTAAAAGAAACAGAGACTTCTCTCTGCCATGGCCCTTCTTTATT
CCAGGGACTTAGAAACTTGCCTGAGATGGTGGACGCAGTAATGAGGGCACCGCGCAGCTCAGTTAGAGACGGAGAAAGGGAAGAGGCTGG
GATGGTCTCTGCTGCTCTTGCCTCTAGTTCATGGAGATGTGTCTCTGTTCAGGCCAAGATACAGCCAGCCAGGCCTGTCGTCTGGGACCC
AGGAGGCCTCTGATGACCAAGGGCTTTCACATCCTAAGTCATTTGGAAGGAGGCCTTGAGAACAAAGTCACCTTTGTCACTCCCAGTGAA
CTGAATGAGGAACATGCTGTCTCCTGTCTTGGCCTCCCCTTTCATGAGATACTGGGGAGAAGAGAACATTCCTCCTGGCTTAGTTGTAGC
AGACCCAGACCTGTGCCCAGCTTTGGTCCCCCTTCCCAACTTCTGAAGCACGTGCTGCAGAGCCACCTTGGTCTGAGCACCTGAGGACCA
GCCCCTCCTCCCTCAGTGCGGGTCATCTCTTGGGGGATTTTCTTAAAGTGAAGAAAGGGGGTGGGGAACCATATTGCCCCTCCCTCCCCC
ATCAAACTTCCTTCATTTAACTTGCTATAAAATGAGTCATATAAAGAAACTCTATATGGGTGAGGTATATCCCACTTCTGTGAAAACATT
ACAAATCAAACCGCTTCTCTCAGTTTATTTAAGATGCTTTTGTTGCGAGCGGAGCTCTAGAGTGAAGCCTCCTGTGTGTGTGTGAGATAA
TAACACCTTGTAACTCATTACAGCTGGGCACTATTTACATAAACCAGAGCTGAGCCAGGCAGGAATTTGCTGATTAATTTATTTTTAATG

>65315_65315_1_PIGU-UQCC1_PIGU_chr20_33203846_ENST00000452740_UQCC1_chr20_33954417_ENST00000349714_length(amino acids)=222AA_BP=
MAAPLVLVLVVAVTVRAALFRSSLAEFISERVEVVSPLSSWKRVVEGLSLLDLGVSPYSGAVFHETPLIIYLFHFLIDYAELVFMITDAL
TAIALYFAIQDFNKVVFKKQKLLLELDQYAPDVAELIRTPMEMRYIPLKVALFYLLNPYTILSCVAKSTCAINNTLIAFFILTTIKGSAF

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Fusion Gene PPI Analysis for PIGU-UQCC1


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 PIGU-UQCC1


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 PIGU-UQCC1


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