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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:ATP6V1F-CPED1 (FusionGDB2 ID:8186)

Fusion Gene Summary for ATP6V1F-CPED1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6V1F-CPED1
Fusion gene ID: 8186
HgeneTgene
Gene symbol

ATP6V1F

CPED1

Gene ID

9296

79974

Gene nameATPase H+ transporting V1 subunit Fcadherin like and PC-esterase domain containing 1
SynonymsATP6S14|VATF|Vma7C7orf58
Cytomap

7q32.1

7q31.31

Type of geneprotein-codingprotein-coding
DescriptionV-type proton ATPase subunit FATPase, H+ transporting, lysosomal 14kDa, V1 subunit FATPase, vacuolar, 14 kDH(+)-transporting two-sector ATPase, 14kD subunitV-ATPase 14 kDa subunitV-ATPase F subunitV-ATPase subunit Fadenosinetriphosphatase 14k chaincadherin-like and PC-esterase domain-containing protein 1
Modification date2020031320200313
UniProtAcc

Q16864

A4D0V7

Ensembl transtripts involved in fusion geneENST00000249289, ENST00000492758, 
ENST00000340646, ENST00000423795, 
ENST00000450913, ENST00000495036, 
ENST00000310396, 
Fusion gene scores* DoF score5 X 5 X 2=509 X 8 X 5=360
# samples 69
** MAII scorelog2(6/50*10)=0.263034405833794
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(9/360*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP6V1F [Title/Abstract] AND CPED1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP6V1F(128503116)-CPED1(120935494), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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 ATP6V1F (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 CPED1 (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
ChimerDB4LUSCTCGA-39-5011-01AATP6V1Fchr7

128503116

+CPED1chr7

120935494

+
ChimerDB4LUSCTCGA-39-5011ATP6V1Fchr7

128503116

+CPED1chr7

120935494

+


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Fusion Gene ORF analysis for ATP6V1F-CPED1

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-intronENST00000249289ENST00000340646ATP6V1Fchr7

128503116

+CPED1chr7

120935494

+
5CDS-intronENST00000249289ENST00000423795ATP6V1Fchr7

128503116

+CPED1chr7

120935494

+
5CDS-intronENST00000249289ENST00000450913ATP6V1Fchr7

128503116

+CPED1chr7

120935494

+
5CDS-intronENST00000249289ENST00000495036ATP6V1Fchr7

128503116

+CPED1chr7

120935494

+
5CDS-intronENST00000492758ENST00000340646ATP6V1Fchr7

128503116

+CPED1chr7

120935494

+
5CDS-intronENST00000492758ENST00000423795ATP6V1Fchr7

128503116

+CPED1chr7

120935494

+
5CDS-intronENST00000492758ENST00000450913ATP6V1Fchr7

128503116

+CPED1chr7

120935494

+
5CDS-intronENST00000492758ENST00000495036ATP6V1Fchr7

128503116

+CPED1chr7

120935494

+
In-frameENST00000249289ENST00000310396ATP6V1Fchr7

128503116

+CPED1chr7

120935494

+
In-frameENST00000492758ENST00000310396ATP6V1Fchr7

128503116

+CPED1chr7

120935494

+

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)
ENST00000249289ATP6V1Fchr7128503116+ENST00000310396CPED1chr7120935494+224223789963089
ENST00000492758ATP6V1Fchr7128503116+ENST00000310396CPED1chr7120935494+216415982155289

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
ENST00000249289ENST00000310396ATP6V1Fchr7128503116+CPED1chr7120935494+0.90466170.09533828
ENST00000492758ENST00000310396ATP6V1Fchr7128503116+CPED1chr7120935494+0.9400990.059900943

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Fusion Genomic Features for ATP6V1F-CPED1


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)
ATP6V1Fchr7128503116+CPED1chr7120935493+0.0114434090.9885565
ATP6V1Fchr7128503116+CPED1chr7120935493+0.0114434090.9885565
ATP6V1Fchr7128503116+CPED1chr7120935493+0.0114434090.9885565
ATP6V1Fchr7128503116+CPED1chr7120935493+0.0114434090.9885565

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 ATP6V1F-CPED1


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/chr7:128503116/chr7:120935494)
- 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
ATP6V1F

Q16864

CPED1

A4D0V7

FUNCTION: Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

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 ATP6V1F-CPED1


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.
>8186_8186_1_ATP6V1F-CPED1_ATP6V1F_chr7_128503116_ENST00000249289_CPED1_chr7_120935494_ENST00000310396_length(transcript)=2242nt_BP=237nt
GCCGACGGGGCGCCGTACGGCGGAGGCGGGGTTTCAGTGGCTTCTGGTGCTCTAGGGTGAGCTCTGCCCGGCTGCAGGGATGGCGGGGAG
GGGTAAGCTCATCGCAGTGATCGGAGACGAGGACACGGTGACTGGTTTCCTGCTGGGCGGCATAGGGGAGCTTAACAAGAACCGCCATCC
CAATTTCCTGGTGGTGGAGAAGGATACAACCATCAATGAGATCGAAGACACTTTCCGGTAGTGAAATCAAAGTTATCCAAAGAATATAAC
TTTATTAAAATGAAAAGATCAAGAAATCATATCATGGGAAGATATTTCAGCAATCAAAGCAAACTACAACAAGGCACTGTAACAAATTTT
CGATCGCCATATCATGTCAGAGGTCCAATAAATCAGGTTTGTTCTGAAATCCTTCTCAGCAGGATGTGTGCAAATAAAAGGACTATGTAG
GCTCCCTGCAGGAGAGCTGAATCTGGAGCTGGAGACGAGCTAGTCACCCGGACAATGGTCTAGGAGCCAAGCGCTGCACATCGCACACAT
TTGGGATCGACCACACACACTTGTGCACACCAGCACATGCATGCACACCAGTACACACACAGTTAAATAATGATAACACTTCTTACAGCT
TTATGAATTCAAGATGTGACCTTGAACACCAGTCCATTTCACAGTGAAAGATATACCTAGAGAAACGTTACTTGAAGCATAATTATTAAC
CAGAACCACTGTGGGCCAGGTATGGCATTGTGATAATAAAGAGAAATATAGACACTTAAAATTATGTGAAAAAAAGGATAATGCTCTTTC
ATGTTGTCTTACCATATCTATAGGTACATCAATATTGAAAAGGAGAAAAACCAATGACATTCCACTGGCAAGTAGAAGTTGTCCTTTCAT
TCTTTACCAGGAGAAAATGTGATGTTTATGATGGCTTAGGCTTTGTGAATCTAATGCTTATGAAAAACATTTCTTCCTATACTTTTTAAA
TTTTATTACTGAAAGGAAAAGAACAGGAATGTTCCACAAGGGAATTTGAAGAGATTCTGTGAGAGAGATATGAAATATTTTATAGTTAAA
ACACCAATATATTCAACTTTACACTTCTTGTGTTTTTCATAAACATTCCCTCTTGTCTTATCTGTGTACTTCGATGGGTAACTGCAGTCT
GAATTAATGAAATATGTAATTTTAAAGTAAGTAACAAAATGTAGTTCCTCATGTATTACTGTACTATGTTTCATTGATGATATTACTTAA
ATCTTGTGTTTGCCATTACAGCCCTATGTAACTTAAAATTACAATTATATTTTATGTAAATATTTTGCAAAGGACTATGCATTCTGAAAT
GCATAGGTGCTTTTTCCCACCAAGCATTTGCATATGTCCACAAATAGTATTATGTTACTAGTATCTATATTTTGATTTTCCTGAGCAACT
GTATCAAATCCAAATTTAGATTAGACAAAAAATTATTATTTTAATTAAACTGTGGCATACATATAATACATACCTAATTATAGTAGTGAG
AACTATTTCTTTTATCTCTTTAGGTTCAAAATGGTGAATTTCTTTATTATATGAATGCTTTGTTGTGAGATAACATCACACTGTTACAAT
GGATTTTAGAGGTTTGTCTTTTTTGGGTGGGGTGGGAAGCTGAGAGGGTTAATTCAATACATGGCTGAAATTACCAAATGTATAAATACC
TCATTTTCACTACCATACAAGAAAAAAACACCTATTTTGATTGATCAGTTCTTTTGTATGAATATCCACCTCCTTTAAATACTCTATTTT
TATATATATTTTTATATGAAGATAAACATGAATTTATATTTAACTGTCTTAAATTATATTTACATAAATGCAAATATCACTTGATATAAA
CAATACAAATCTGCATCTTACAGATGATAATTTTTTTAGAAGAATGATACAGAATTAACTTTAAAAATAAAACTTTTCTAATATACACTT
AAATGCAAACATCATTTTTAAATTTTCAGTGATTTTTTTAATGACATAAAACGTTACCAATGTGTGCAGCCTCTCCATCATGTTTTAACA
TACTGTATACTCTATAGCAGTATTACAGTCAGTATTTCATATAATTTTCTTTAGACCTAACTGTTACCATCTGACTGAGGTTACTCTGGT

>8186_8186_1_ATP6V1F-CPED1_ATP6V1F_chr7_128503116_ENST00000249289_CPED1_chr7_120935494_ENST00000310396_length(amino acids)=89AA_BP=

--------------------------------------------------------------
>8186_8186_2_ATP6V1F-CPED1_ATP6V1F_chr7_128503116_ENST00000492758_CPED1_chr7_120935494_ENST00000310396_length(transcript)=2164nt_BP=159nt
GATGGCGGGGAGGGGTAAGCTCATCGCAGTGATCGGAGACGAGGACACGGTGACTGGTTTCCTGCTGGGCGGCATAGGGGAGCTTAACAA
GAACCGCCATCCCAATTTCCTGGTGGTGGAGAAGGATACAACCATCAATGAGATCGAAGACACTTTCCGGTAGTGAAATCAAAGTTATCC
AAAGAATATAACTTTATTAAAATGAAAAGATCAAGAAATCATATCATGGGAAGATATTTCAGCAATCAAAGCAAACTACAACAAGGCACT
GTAACAAATTTTCGATCGCCATATCATGTCAGAGGTCCAATAAATCAGGTTTGTTCTGAAATCCTTCTCAGCAGGATGTGTGCAAATAAA
AGGACTATGTAGGCTCCCTGCAGGAGAGCTGAATCTGGAGCTGGAGACGAGCTAGTCACCCGGACAATGGTCTAGGAGCCAAGCGCTGCA
CATCGCACACATTTGGGATCGACCACACACACTTGTGCACACCAGCACATGCATGCACACCAGTACACACACAGTTAAATAATGATAACA
CTTCTTACAGCTTTATGAATTCAAGATGTGACCTTGAACACCAGTCCATTTCACAGTGAAAGATATACCTAGAGAAACGTTACTTGAAGC
ATAATTATTAACCAGAACCACTGTGGGCCAGGTATGGCATTGTGATAATAAAGAGAAATATAGACACTTAAAATTATGTGAAAAAAAGGA
TAATGCTCTTTCATGTTGTCTTACCATATCTATAGGTACATCAATATTGAAAAGGAGAAAAACCAATGACATTCCACTGGCAAGTAGAAG
TTGTCCTTTCATTCTTTACCAGGAGAAAATGTGATGTTTATGATGGCTTAGGCTTTGTGAATCTAATGCTTATGAAAAACATTTCTTCCT
ATACTTTTTAAATTTTATTACTGAAAGGAAAAGAACAGGAATGTTCCACAAGGGAATTTGAAGAGATTCTGTGAGAGAGATATGAAATAT
TTTATAGTTAAAACACCAATATATTCAACTTTACACTTCTTGTGTTTTTCATAAACATTCCCTCTTGTCTTATCTGTGTACTTCGATGGG
TAACTGCAGTCTGAATTAATGAAATATGTAATTTTAAAGTAAGTAACAAAATGTAGTTCCTCATGTATTACTGTACTATGTTTCATTGAT
GATATTACTTAAATCTTGTGTTTGCCATTACAGCCCTATGTAACTTAAAATTACAATTATATTTTATGTAAATATTTTGCAAAGGACTAT
GCATTCTGAAATGCATAGGTGCTTTTTCCCACCAAGCATTTGCATATGTCCACAAATAGTATTATGTTACTAGTATCTATATTTTGATTT
TCCTGAGCAACTGTATCAAATCCAAATTTAGATTAGACAAAAAATTATTATTTTAATTAAACTGTGGCATACATATAATACATACCTAAT
TATAGTAGTGAGAACTATTTCTTTTATCTCTTTAGGTTCAAAATGGTGAATTTCTTTATTATATGAATGCTTTGTTGTGAGATAACATCA
CACTGTTACAATGGATTTTAGAGGTTTGTCTTTTTTGGGTGGGGTGGGAAGCTGAGAGGGTTAATTCAATACATGGCTGAAATTACCAAA
TGTATAAATACCTCATTTTCACTACCATACAAGAAAAAAACACCTATTTTGATTGATCAGTTCTTTTGTATGAATATCCACCTCCTTTAA
ATACTCTATTTTTATATATATTTTTATATGAAGATAAACATGAATTTATATTTAACTGTCTTAAATTATATTTACATAAATGCAAATATC
ACTTGATATAAACAATACAAATCTGCATCTTACAGATGATAATTTTTTTAGAAGAATGATACAGAATTAACTTTAAAAATAAAACTTTTC
TAATATACACTTAAATGCAAACATCATTTTTAAATTTTCAGTGATTTTTTTAATGACATAAAACGTTACCAATGTGTGCAGCCTCTCCAT
CATGTTTTAACATACTGTATACTCTATAGCAGTATTACAGTCAGTATTTCATATAATTTTCTTTAGACCTAACTGTTACCATCTGACTGA
GGTTACTCTGGTATTTATCTCTTCGCTGCTGAAATAATAATGGATTTTAGAAACAATTGTAATAATATCATTAATAAATGTCTTACTAGT

>8186_8186_2_ATP6V1F-CPED1_ATP6V1F_chr7_128503116_ENST00000492758_CPED1_chr7_120935494_ENST00000310396_length(amino acids)=89AA_BP=

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

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Fusion Gene PPI Analysis for ATP6V1F-CPED1


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 ATP6V1F-CPED1


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 ATP6V1F-CPED1


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