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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:FUS-ATP6V0C (FusionGDB2 ID:31791)

Fusion Gene Summary for FUS-ATP6V0C

check button Fusion gene summary
Fusion gene informationFusion gene name: FUS-ATP6V0C
Fusion gene ID: 31791
HgeneTgene
Gene symbol

FUS

ATP6V0C

Gene ID

2521

527

Gene nameFUS RNA binding proteinATPase H+ transporting V0 subunit c
SynonymsALS6|ETM4|FUS1|HNRNPP2|POMP75|TLSATP6C|ATP6L|ATPL|VATL|VPPC|Vma3
Cytomap

16p11.2

16p13.3

Type of geneprotein-codingprotein-coding
DescriptionRNA-binding protein FUS75 kDa DNA-pairing proteinfus-like proteinfused in sarcomafusion gene in myxoid liposarcomaheterogeneous nuclear ribonucleoprotein P2oncogene FUSoncogene TLStranslocated in liposarcoma proteinV-type proton ATPase 16 kDa proteolipid subunitATPase, H+ transporting, lysosomal 16kDa, V0 subunit cH(+)-transporting two-sector ATPase, 16 kDa subunitV-ATPase 16 kDa proteolipid subunitvacuolar ATP synthase 16 kDa proteolipid subunitvacuolar H+ ATP
Modification date2020032920200313
UniProtAcc

P35637

P27449

Ensembl transtripts involved in fusion geneENST00000254108, ENST00000380244, 
ENST00000568685, ENST00000474990, 
ENST00000564973, ENST00000565223, 
ENST00000568562, ENST00000330398, 
Fusion gene scores* DoF score37 X 37 X 16=219048 X 8 X 3=192
# samples 449
** MAII scorelog2(44/21904*10)=-5.63754701773324
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/192*10)=-1.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FUS [Title/Abstract] AND ATP6V0C [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFUS(31191548)-ATP6V0C(2569219), # samples:1
Anticipated loss of major functional domain due to fusion event.FUS-ATP6V0C seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
FUS-ATP6V0C seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
FUS-ATP6V0C seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
FUS-ATP6V0C seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
FUS-ATP6V0C seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneFUS

GO:0006355

regulation of transcription, DNA-templated

26124092

HgeneFUS

GO:0006357

regulation of transcription by RNA polymerase II

25453086

HgeneFUS

GO:0008380

RNA splicing

26124092

HgeneFUS

GO:0043484

regulation of RNA splicing

25453086|27731383

HgeneFUS

GO:0048255

mRNA stabilization

27378374

HgeneFUS

GO:0051260

protein homooligomerization

25453086

HgeneFUS

GO:1905168

positive regulation of double-strand break repair via homologous recombination

10567410


check buttonFusion gene breakpoints across FUS (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 ATP6V0C (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
ChimerDB4Non-CancerERR315486FUSchr16

31191548

+ATP6V0Cchr16

2569219

+


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Fusion Gene ORF analysis for FUS-ATP6V0C

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-5UTRENST00000254108ENST00000564973FUSchr16

31191548

+ATP6V0Cchr16

2569219

+
5CDS-5UTRENST00000254108ENST00000565223FUSchr16

31191548

+ATP6V0Cchr16

2569219

+
5CDS-5UTRENST00000380244ENST00000564973FUSchr16

31191548

+ATP6V0Cchr16

2569219

+
5CDS-5UTRENST00000380244ENST00000565223FUSchr16

31191548

+ATP6V0Cchr16

2569219

+
5CDS-5UTRENST00000568685ENST00000564973FUSchr16

31191548

+ATP6V0Cchr16

2569219

+
5CDS-5UTRENST00000568685ENST00000565223FUSchr16

31191548

+ATP6V0Cchr16

2569219

+
Frame-shiftENST00000254108ENST00000568562FUSchr16

31191548

+ATP6V0Cchr16

2569219

+
Frame-shiftENST00000380244ENST00000568562FUSchr16

31191548

+ATP6V0Cchr16

2569219

+
Frame-shiftENST00000568685ENST00000568562FUSchr16

31191548

+ATP6V0Cchr16

2569219

+
In-frameENST00000254108ENST00000330398FUSchr16

31191548

+ATP6V0Cchr16

2569219

+
In-frameENST00000380244ENST00000330398FUSchr16

31191548

+ATP6V0Cchr16

2569219

+
In-frameENST00000568685ENST00000330398FUSchr16

31191548

+ATP6V0Cchr16

2569219

+
intron-3CDSENST00000474990ENST00000330398FUSchr16

31191548

+ATP6V0Cchr16

2569219

+
intron-3CDSENST00000474990ENST00000568562FUSchr16

31191548

+ATP6V0Cchr16

2569219

+
intron-5UTRENST00000474990ENST00000564973FUSchr16

31191548

+ATP6V0Cchr16

2569219

+
intron-5UTRENST00000474990ENST00000565223FUSchr16

31191548

+ATP6V0Cchr16

2569219

+

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)
ENST00000254108FUSchr1631191548+ENST00000330398ATP6V0Cchr162569219+98011827506159
ENST00000380244FUSchr1631191548+ENST00000330398ATP6V0Cchr162569219+9518952477141
ENST00000568685FUSchr1631191548+ENST00000330398ATP6V0Cchr162569219+9397740465141

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
ENST00000254108ENST00000330398FUSchr1631191548+ATP6V0Cchr162569219+0.0100264880.98997355
ENST00000380244ENST00000330398FUSchr1631191548+ATP6V0Cchr162569219+0.0087742760.99122566
ENST00000568685ENST00000330398FUSchr1631191548+ATP6V0Cchr162569219+0.0079584060.9920415

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Fusion Genomic Features for FUS-ATP6V0C


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)
FUSchr1631191548+ATP6V0Cchr162569218+1.36E-060.9999987
FUSchr1631191548+ATP6V0Cchr162569218+1.36E-060.9999987

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 FUS-ATP6V0C


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/chr16:31191548/chr16:2569219)
- 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
FUS

P35637

ATP6V0C

P27449

FUNCTION: DNA/RNA-binding protein that plays a role in various cellular processes such as transcription regulation, RNA splicing, RNA transport, DNA repair and damage response (PubMed:27731383). Binds to nascent pre-mRNAs and acts as a molecular mediator between RNA polymerase II and U1 small nuclear ribonucleoprotein thereby coupling transcription and splicing (PubMed:26124092). Binds also its own pre-mRNA and autoregulates its expression; this autoregulation mechanism is mediated by non-sense-mediated decay (PubMed:24204307). Plays a role in DNA repair mechanisms by promoting D-loop formation and homologous recombination during DNA double-strand break repair (PubMed:10567410). In neuronal cells, plays crucial roles in dendritic spine formation and stability, RNA transport, mRNA stability and synaptic homeostasis (By similarity). {ECO:0000250|UniProtKB:P56959, ECO:0000269|PubMed:10567410, ECO:0000269|PubMed:24204307, ECO:0000269|PubMed:26124092, ECO:0000269|PubMed:27731383}.FUNCTION: Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. 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
TgeneATP6V0Cchr16:31191548chr16:2569219ENST0000033039803115_13126156.0Topological domainCytoplasmic
TgeneATP6V0Cchr16:31191548chr16:2569219ENST0000033039803153_15526156.0Topological domainLumenal
TgeneATP6V0Cchr16:31191548chr16:2569219ENST000003303980334_5526156.0Topological domainCytoplasmic
TgeneATP6V0Cchr16:31191548chr16:2569219ENST000003303980377_9226156.0Topological domainLumenal
TgeneATP6V0Cchr16:31191548chr16:2569219ENST0000033039803132_15226156.0TransmembraneHelical
TgeneATP6V0Cchr16:31191548chr16:2569219ENST000003303980356_7626156.0TransmembraneHelical
TgeneATP6V0Cchr16:31191548chr16:2569219ENST000003303980393_11426156.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFUSchr16:31191548chr16:2569219ENST00000254108+115166_2674527.0Compositional biasNote=Gly-rich
HgeneFUSchr16:31191548chr16:2569219ENST00000254108+1151_1654527.0Compositional biasNote=Gln/Gly/Ser/Tyr-rich
HgeneFUSchr16:31191548chr16:2569219ENST00000254108+115371_5264527.0Compositional biasNote=Arg/Gly-rich
HgeneFUSchr16:31191548chr16:2569219ENST00000380244+115166_2674526.0Compositional biasNote=Gly-rich
HgeneFUSchr16:31191548chr16:2569219ENST00000380244+1151_1654526.0Compositional biasNote=Gln/Gly/Ser/Tyr-rich
HgeneFUSchr16:31191548chr16:2569219ENST00000380244+115371_5264526.0Compositional biasNote=Arg/Gly-rich
HgeneFUSchr16:31191548chr16:2569219ENST00000254108+115285_3714527.0DomainRRM
HgeneFUSchr16:31191548chr16:2569219ENST00000380244+115285_3714526.0DomainRRM
HgeneFUSchr16:31191548chr16:2569219ENST00000254108+115422_4534527.0Zinc fingerRanBP2-type
HgeneFUSchr16:31191548chr16:2569219ENST00000380244+115422_4534526.0Zinc fingerRanBP2-type
TgeneATP6V0Cchr16:31191548chr16:2569219ENST00000330398031_1026156.0Topological domainLumenal
TgeneATP6V0Cchr16:31191548chr16:2569219ENST000003303980311_3326156.0TransmembraneHelical


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Fusion Gene Sequence for FUS-ATP6V0C


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.
>31791_31791_1_FUS-ATP6V0C_FUS_chr16_31191548_ENST00000254108_ATP6V0C_chr16_2569219_ENST00000330398_length(transcript)=980nt_BP=118nt
ACTTAAGCTTCGACGCAGGAGGCGGGGCTGCTCAGTCCTCCAGGCGTCGGTACTCAGCGGTGTTGGAACTTCGTTGCTTGCTTGCCTGTG
CGCGCGTGCGCGGACATGGCCTCAAACGCCCTGGGCGCTGCCTATGGCACAGCCAAGAGCGGTACCGGCATTGCGGCCATGTCTGTCATG
CGGCCGGAGCAGATCATGAAGTCCATCATCCCAGTGGTCATGGCTGGCATCATCGCCATCTACGGCCTGGTGGTGGCAGTCCTCATCGCC
AACTCCCTGAATGACGACATCAGCCTCTACAAGAGCTTCCTCCAGCTGGGCGCCGGCCTGAGCGTGGGCCTGAGCGGCCTGGCAGCCGGC
TTTGCCATCGGCATCGTGGGGGACGCTGGCGTGCGGGGCACCGCCCAGCAGCCCCGACTATTCGTGGGCATGATCCTGATTCTCATCTTC
GCCGAGGTGCTCGGCCTCTACGGTCTCATCGTCGCCCTCATCCTCTCCACAAAGTAGACCCTCTCCGAGCCCACCAGCCACAGAATATTA
TGTAAAGACCACCCCTCCTCATTCCAGAACGAACAGCCTGACACATACGCACGGGGCCGCCGCCCCCAGTAGTTGGTCTTGTACATGCGC
AGTGTCCTAGTGCCCATCGTCTGTTTCCCCGGCCTTGCCCCCGCCCGCCCCGTGCCGTGGACATCTGGGCCCACTCATCGCCCCTCCAGG
CCCCCGGCGCCCCACCCCCTAGAGTGCTCTGTGTATGCGGATGATTTAGAATTGTCATTTCTCTTTACTGGATGTTTATTTATAAAGATC
TGGCCTGTTCCTGCGTCTGCGGAGCGGCCCTTGTCTCCCAGCTATCTATAACCTTAGCTAGAGTGTCGCCTTGTGGGTTCCTGTTGCTGA

>31791_31791_1_FUS-ATP6V0C_FUS_chr16_31191548_ENST00000254108_ATP6V0C_chr16_2569219_ENST00000330398_length(amino acids)=159AA_BP=30
MLSPPGVGTQRCWNFVACLPVRACADMASNALGAAYGTAKSGTGIAAMSVMRPEQIMKSIIPVVMAGIIAIYGLVVAVLIANSLNDDISL

--------------------------------------------------------------
>31791_31791_2_FUS-ATP6V0C_FUS_chr16_31191548_ENST00000380244_ATP6V0C_chr16_2569219_ENST00000330398_length(transcript)=951nt_BP=89nt
GCTCAGTCCTCCAGGCGTCGGTACTCAGCGGTGTTGGAACTTCGTTGCTTGCTTGCCTGTGCGCGCGTGCGCGGACATGGCCTCAAACGC
CCTGGGCGCTGCCTATGGCACAGCCAAGAGCGGTACCGGCATTGCGGCCATGTCTGTCATGCGGCCGGAGCAGATCATGAAGTCCATCAT
CCCAGTGGTCATGGCTGGCATCATCGCCATCTACGGCCTGGTGGTGGCAGTCCTCATCGCCAACTCCCTGAATGACGACATCAGCCTCTA
CAAGAGCTTCCTCCAGCTGGGCGCCGGCCTGAGCGTGGGCCTGAGCGGCCTGGCAGCCGGCTTTGCCATCGGCATCGTGGGGGACGCTGG
CGTGCGGGGCACCGCCCAGCAGCCCCGACTATTCGTGGGCATGATCCTGATTCTCATCTTCGCCGAGGTGCTCGGCCTCTACGGTCTCAT
CGTCGCCCTCATCCTCTCCACAAAGTAGACCCTCTCCGAGCCCACCAGCCACAGAATATTATGTAAAGACCACCCCTCCTCATTCCAGAA
CGAACAGCCTGACACATACGCACGGGGCCGCCGCCCCCAGTAGTTGGTCTTGTACATGCGCAGTGTCCTAGTGCCCATCGTCTGTTTCCC
CGGCCTTGCCCCCGCCCGCCCCGTGCCGTGGACATCTGGGCCCACTCATCGCCCCTCCAGGCCCCCGGCGCCCCACCCCCTAGAGTGCTC
TGTGTATGCGGATGATTTAGAATTGTCATTTCTCTTTACTGGATGTTTATTTATAAAGATCTGGCCTGTTCCTGCGTCTGCGGAGCGGCC
CTTGTCTCCCAGCTATCTATAACCTTAGCTAGAGTGTCGCCTTGTGGGTTCCTGTTGCTGAGACTTCCTGGATGGAGCCGCCCTCACCGC

>31791_31791_2_FUS-ATP6V0C_FUS_chr16_31191548_ENST00000380244_ATP6V0C_chr16_2569219_ENST00000330398_length(amino acids)=141AA_BP=12
MPVRACADMASNALGAAYGTAKSGTGIAAMSVMRPEQIMKSIIPVVMAGIIAIYGLVVAVLIANSLNDDISLYKSFLQLGAGLSVGLSGL

--------------------------------------------------------------
>31791_31791_3_FUS-ATP6V0C_FUS_chr16_31191548_ENST00000568685_ATP6V0C_chr16_2569219_ENST00000330398_length(transcript)=939nt_BP=77nt
AGGCGTCGGTACTCAGCGGTGTTGGAACTTCGTTGCTTGCTTGCCTGTGCGCGCGTGCGCGGACATGGCCTCAAACGCCCTGGGCGCTGC
CTATGGCACAGCCAAGAGCGGTACCGGCATTGCGGCCATGTCTGTCATGCGGCCGGAGCAGATCATGAAGTCCATCATCCCAGTGGTCAT
GGCTGGCATCATCGCCATCTACGGCCTGGTGGTGGCAGTCCTCATCGCCAACTCCCTGAATGACGACATCAGCCTCTACAAGAGCTTCCT
CCAGCTGGGCGCCGGCCTGAGCGTGGGCCTGAGCGGCCTGGCAGCCGGCTTTGCCATCGGCATCGTGGGGGACGCTGGCGTGCGGGGCAC
CGCCCAGCAGCCCCGACTATTCGTGGGCATGATCCTGATTCTCATCTTCGCCGAGGTGCTCGGCCTCTACGGTCTCATCGTCGCCCTCAT
CCTCTCCACAAAGTAGACCCTCTCCGAGCCCACCAGCCACAGAATATTATGTAAAGACCACCCCTCCTCATTCCAGAACGAACAGCCTGA
CACATACGCACGGGGCCGCCGCCCCCAGTAGTTGGTCTTGTACATGCGCAGTGTCCTAGTGCCCATCGTCTGTTTCCCCGGCCTTGCCCC
CGCCCGCCCCGTGCCGTGGACATCTGGGCCCACTCATCGCCCCTCCAGGCCCCCGGCGCCCCACCCCCTAGAGTGCTCTGTGTATGCGGA
TGATTTAGAATTGTCATTTCTCTTTACTGGATGTTTATTTATAAAGATCTGGCCTGTTCCTGCGTCTGCGGAGCGGCCCTTGTCTCCCAG
CTATCTATAACCTTAGCTAGAGTGTCGCCTTGTGGGTTCCTGTTGCTGAGACTTCCTGGATGGAGCCGCCCTCACCGCCGGGCCCGTGGC

>31791_31791_3_FUS-ATP6V0C_FUS_chr16_31191548_ENST00000568685_ATP6V0C_chr16_2569219_ENST00000330398_length(amino acids)=141AA_BP=12
MPVRACADMASNALGAAYGTAKSGTGIAAMSVMRPEQIMKSIIPVVMAGIIAIYGLVVAVLIANSLNDDISLYKSFLQLGAGLSVGLSGL

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

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Fusion Gene PPI Analysis for FUS-ATP6V0C


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 FUS-ATP6V0C


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 FUS-ATP6V0C


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