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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:ATP6V0A2-RBCK1 (FusionGDB2 ID:HG23545TG10616)

Fusion Gene Summary for ATP6V0A2-RBCK1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6V0A2-RBCK1
Fusion gene ID: hg23545tg10616
HgeneTgene
Gene symbol

ATP6V0A2

RBCK1

Gene ID

23545

10616

Gene nameATPase H+ transporting V0 subunit a2RANBP2-type and C3HC4-type zinc finger containing 1
SynonymsA2|ARCL|ARCL2A|ATP6A2|ATP6N1D|J6B7|RTF|STV1|TJ6|TJ6M|TJ6S|VPH1|WSSC20orf18|HOIL-1|HOIL1|PBMEI|PGBM1|RBCK2|RNF54|UBCE7IP3|XAP3|XAP4|ZRANB4
Cytomap('ATP6V0A2')('RBCK1')

12q24.31

20p13

Type of geneprotein-codingprotein-coding
DescriptionV-type proton ATPase 116 kDa subunit a isoform 2V-type proton ATPase 116 kDa subunit aA2V-ATPaseATPase, H+ transporting, lysosomal V0 subunit a2lysosomal H(+)-transporting ATPase V0 subunit a2regeneration and tolerance factorv-ATPase 116 kDav-type ranBP-type and C3HC4-type zinc finger-containing protein 1HBV-associated factor 4RBCC protein interacting with PKC1RING finger protein 54RING-type E3 ubiquitin transferase HOIL-1heme-oxidized IRP2 ubiquitin ligase 1hepatitis B virus X-associated pro
Modification date2020031320200327
UniProtAcc

Q9Y487

.
Ensembl transtripts involved in fusion geneENST00000330342, ENST00000543687, 
ENST00000544833, 
Fusion gene scores* DoF score3 X 3 X 2=186 X 5 X 2=60
# samples 38
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/60*10)=0.415037499278844
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ATP6V0A2 [Title/Abstract] AND RBCK1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP6V0A2(124221818)-RBCK1(407957), # samples:1
Anticipated loss of major functional domain due to fusion event.ATP6V0A2-RBCK1 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.
ATP6V0A2-RBCK1 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.
ATP6V0A2-RBCK1 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.
ATP6V0A2-RBCK1 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
TgeneRBCK1

GO:0000209

protein polyubiquitination

12629548|17006537

TgeneRBCK1

GO:0032088

negative regulation of NF-kappaB transcription factor activity

17449468

TgeneRBCK1

GO:0043123

positive regulation of I-kappaB kinase/NF-kappaB signaling

19136968|21455173

TgeneRBCK1

GO:0050852

T cell receptor signaling pathway

20005846

TgeneRBCK1

GO:0051092

positive regulation of NF-kappaB transcription factor activity

19136968

TgeneRBCK1

GO:0097039

protein linear polyubiquitination

21455173|21455180|21455181|23453807


check buttonFusion gene breakpoints across ATP6V0A2 (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 RBCK1 (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-D7-5577-01AATP6V0A2chr12

124221818

+RBCK1chr20

407957

+


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Fusion Gene ORF analysis for ATP6V0A2-RBCK1

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-intronENST00000330342ENST00000400245ATP6V0A2chr12

124221818

+RBCK1chr20

407957

+
5CDS-intronENST00000330342ENST00000400247ATP6V0A2chr12

124221818

+RBCK1chr20

407957

+
5CDS-intronENST00000330342ENST00000475269ATP6V0A2chr12

124221818

+RBCK1chr20

407957

+
In-frameENST00000330342ENST00000353660ATP6V0A2chr12

124221818

+RBCK1chr20

407957

+
In-frameENST00000330342ENST00000356286ATP6V0A2chr12

124221818

+RBCK1chr20

407957

+
In-frameENST00000330342ENST00000382181ATP6V0A2chr12

124221818

+RBCK1chr20

407957

+
intron-3CDSENST00000543687ENST00000353660ATP6V0A2chr12

124221818

+RBCK1chr20

407957

+
intron-3CDSENST00000543687ENST00000356286ATP6V0A2chr12

124221818

+RBCK1chr20

407957

+
intron-3CDSENST00000543687ENST00000382181ATP6V0A2chr12

124221818

+RBCK1chr20

407957

+
intron-3CDSENST00000544833ENST00000353660ATP6V0A2chr12

124221818

+RBCK1chr20

407957

+
intron-3CDSENST00000544833ENST00000356286ATP6V0A2chr12

124221818

+RBCK1chr20

407957

+
intron-3CDSENST00000544833ENST00000382181ATP6V0A2chr12

124221818

+RBCK1chr20

407957

+
intron-intronENST00000543687ENST00000400245ATP6V0A2chr12

124221818

+RBCK1chr20

407957

+
intron-intronENST00000543687ENST00000400247ATP6V0A2chr12

124221818

+RBCK1chr20

407957

+
intron-intronENST00000543687ENST00000475269ATP6V0A2chr12

124221818

+RBCK1chr20

407957

+
intron-intronENST00000544833ENST00000400245ATP6V0A2chr12

124221818

+RBCK1chr20

407957

+
intron-intronENST00000544833ENST00000400247ATP6V0A2chr12

124221818

+RBCK1chr20

407957

+
intron-intronENST00000544833ENST00000475269ATP6V0A2chr12

124221818

+RBCK1chr20

407957

+

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)
ENST00000330342ATP6V0A2chr12124221818+ENST00000356286RBCK1chr20407957+232612862481789513
ENST00000330342ATP6V0A2chr12124221818+ENST00000353660RBCK1chr20407957+232612862481789513
ENST00000330342ATP6V0A2chr12124221818+ENST00000382181RBCK1chr20407957+232612862481789513

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
ENST00000330342ENST00000356286ATP6V0A2chr12124221818+RBCK1chr20407957+0.0025820750.9974179
ENST00000330342ENST00000353660ATP6V0A2chr12124221818+RBCK1chr20407957+0.0025820750.9974179
ENST00000330342ENST00000382181ATP6V0A2chr12124221818+RBCK1chr20407957+0.0025820750.9974179

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Fusion Genomic Features for ATP6V0A2-RBCK1


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)
ATP6V0A2chr12124221818+RBCK1chr20407956+1.28E-081
ATP6V0A2chr12124221818+RBCK1chr20407956+1.28E-081

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 ATP6V0A2-RBCK1


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/chr12:124221818/chr20:407957)
- 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
ATP6V0A2

Q9Y487

.
FUNCTION: Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633). {ECO:0000269|PubMed:16415858, ECO:0000269|PubMed:18157129, ECO:0000269|PubMed:28296633}.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
TgeneRBCK1chr12:124221818chr20:407957ENST00000353660611351_411301469.0Zinc fingerIBR-type
TgeneRBCK1chr12:124221818chr20:407957ENST00000353660611447_476301469.0Zinc fingerRING-type 2%3B atypical
TgeneRBCK1chr12:124221818chr20:407957ENST00000356286712351_411343511.0Zinc fingerIBR-type
TgeneRBCK1chr12:124221818chr20:407957ENST00000356286712447_476343511.0Zinc fingerRING-type 2%3B atypical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+9201_393346857.0Topological domainCytoplasmic
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920413_414346857.0Topological domainVacuolar
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920432_445346857.0Topological domainCytoplasmic
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920476_549346857.0Topological domainVacuolar
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920570_587346857.0Topological domainCytoplasmic
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920609_651346857.0Topological domainVacuolar
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920672_739346857.0Topological domainCytoplasmic
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920765_785346857.0Topological domainVacuolar
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920825_856346857.0Topological domainCytoplasmic
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920394_412346857.0TransmembraneHelical
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920415_431346857.0TransmembraneHelical
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920446_475346857.0TransmembraneHelical
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920550_569346857.0TransmembraneHelical
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920588_608346857.0TransmembraneHelical
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920652_671346857.0TransmembraneHelical
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920740_764346857.0TransmembraneHelical
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920786_824346857.0TransmembraneHelical
TgeneRBCK1chr12:124221818chr20:407957ENST00000353660611233_261301469.0Coiled coilOntology_term=ECO:0000255
TgeneRBCK1chr12:124221818chr20:407957ENST00000356286712233_261343511.0Coiled coilOntology_term=ECO:0000255
TgeneRBCK1chr12:124221818chr20:407957ENST0000035366061155_119301469.0DomainUbiquitin-like
TgeneRBCK1chr12:124221818chr20:407957ENST0000035628671255_119343511.0DomainUbiquitin-like
TgeneRBCK1chr12:124221818chr20:407957ENST00000353660611278_506301469.0RegionTRIAD supradomain
TgeneRBCK1chr12:124221818chr20:407957ENST00000356286712278_506343511.0RegionTRIAD supradomain
TgeneRBCK1chr12:124221818chr20:407957ENST00000353660611193_222301469.0Zinc fingerRanBP2-type
TgeneRBCK1chr12:124221818chr20:407957ENST00000353660611282_332301469.0Zinc fingerRING-type 1
TgeneRBCK1chr12:124221818chr20:407957ENST00000356286712193_222343511.0Zinc fingerRanBP2-type
TgeneRBCK1chr12:124221818chr20:407957ENST00000356286712282_332343511.0Zinc fingerRING-type 1


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Fusion Gene Sequence for ATP6V0A2-RBCK1


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.
>8102_8102_1_ATP6V0A2-RBCK1_ATP6V0A2_chr12_124221818_ENST00000330342_RBCK1_chr20_407957_ENST00000353660_length(transcript)=2326nt_BP=1286nt
GGGGGCGGAACCGGAACCGGCAGTGGCTTGGGGGCGGGACCTCGCGGACTGCTGTGGCGGCAGCTGGAGCGGCGGCCGCGGTGGCAGAAC
CGGGGGCGGCCGCTGCAGTCTGGAGCCCCATAGTGCGGGGCCGCGGCCAGGCCACAGGAAGAGCTCGAGGCCCGGGCCGCACCGGCTGAG
TGTGCGGGCCCGCGCGGCTCGGAGCCGCCGCCGCCCATCGAGCCCCTCCGGGCGCGGGTCGGCCCGCCATGGGGTCCCTGTTCCGGAGCG
AGACCATGTGCCTGGCGCAGCTCTTCCTGCAGTCGGGCACGGCCTACGAGTGCCTCAGCGCCCTGGGCGAGAAAGGCCTGGTCCAGTTCC
GAGACCTCAACCAGAACGTAAGTTCTTTCCAAAGAAAATTTGTTGGTGAGGTGAAGAGGTGTGAAGAGCTAGAGCGAATATTGGTGTATT
TGGTACAGGAAATTAATAGAGCTGATATTCCCCTTCCTGAAGGAGAGGCCAGCCCTCCTGCGCCACCCCTGAAACAGGTTCTAGAAATGC
AGGAGCAGTTGCAGAAGCTCGAGGTTGAACTGAGAGAAGTCACTAAGAACAAGGAGAAACTGAGGAAAAACTTGCTGGAACTGATAGAGT
ACACTCACATGCTGAGAGTGACAAAGACCTTTGTGAAACGCAATGTTGAGTTTGAACCCACTTATGAAGAATTCCCTTCCTTAGAGAGTG
ATTCTTTGTTGGATTACAGCTGTATGCAGAGGCTGGGAGCAAAACTGGGATTTGTGTCTGGCCTAATTAACCAAGGAAAAGTGGAAGCAT
TTGAAAAAATGTTGTGGAGAGTCTGCAAAGGGTACACCATCGTGTCCTATGCAGAACTGGATGAATCCCTTGAAGACCCTGAAACAGGGG
AAGTCATAAAATGGTATGTCTTTTTAATATCCTTTTGGGGAGAGCAGATTGGCCACAAGGTTAAGAAGATATGTGATTGCTACCACTGCC
ACGTGTACCCCTATCCAAACACAGCCGAGGAGCGGAGGGAGATCCAGGAGGGGCTGAACACCCGCATCCAGGATCTCTACACTGTACTGC
ACAAAACCGAGGACTATTTGAGGCAAGTGCTATGTAAAGCCGCCGAGTCTGTCTACAGCCGTGTGATCCAGGTGAAGAAAATGAAGGCCA
TCTATCACATGCTGAACATGTGCAGCTTTGACGTGACCAACAAGTGCCTCATTGCTGAGGTCTGGTGTCCCGAGGCGGATCTGCAGGACC
TGCGCCGGGCACTGGAGGAGGGCTCGCTCCTGACCCCTGAGGATTACCAGCGATTTCTAGACCTGGGCATCTCCATTGCTGAAAACCGCA
GTGCCTTCAGCTACCATTGCAAGACCCCAGATTGCAAGGGATGGTGCTTCTTTGAGGATGATGTCAATGAGTTCACCTGCCCTGTGTGTT
TCCACGTCAACTGCCTGCTCTGCAAGGCCATCCATGAGCAGATGAACTGCAAGGAGTATCAGGAGGACCTGGCCCTGCGGGCTCAGAACG
ATGTGGCTGCCCGGCAGACGACAGAGATGCTGAAGGTGATGCTGCAGCAGGGCGAGGCCATGCGCTGCCCCCAGTGCCAGATCGTGGTAC
AGAAGAAGGACGGCTGCGACTGGATCCGCTGCACCGTCTGCCACACCGAGATCTGCTGGGTCACCAAGGGCCCACGCTGGGGCCCTGGGG
GCCCAGGAGACACCAGCGGGGGCTGCCGCTGCAGGGTAAATGGGATTCCTTGCCACCCAAGCTGTCAGAACTGCCACTGAGCTAAAGATG
GTGGGGCCACATGCTGACCCAGCCCCACATCCACATTCTGTTAGAATGTAGCTCAGGGAGCTTCGTGGACGGCCTTGCTTGCTGTAGCGT
TGTAGGGGCCCTGCCTGCACTGCGGTTGTCCACGGTCACATCTGCCCCAGTGCCTTTGTCCTTCCCTTGGGGCTTGCCGGCCAGACTTCT
CTCCCCTGCGGCTCCCACCTCTGCCTGACCCCAGCCTTAAACATAGCCCCTGGCCAGAGGCCTTGCTGGGTGGAGCCTCTGTGTGACTCC
ATACTCCTCCCACCACAACACTCATCTGTCAAACACCAAGCACTCTCAGCCTCCCCGCCTTCAGCTGTCAGCTTTCTGGGGCTAACTTCT
CTGCCTTTGTGGTTGGAGGCCTGAGGCCTCTTGGAACTCTTGCTAACCTGTTCAGAGCCAGGAAGGAGACTGCACAGTTTTGAAAGCACA

>8102_8102_1_ATP6V0A2-RBCK1_ATP6V0A2_chr12_124221818_ENST00000330342_RBCK1_chr20_407957_ENST00000353660_length(amino acids)=513AA_BP=346
MGSLFRSETMCLAQLFLQSGTAYECLSALGEKGLVQFRDLNQNVSSFQRKFVGEVKRCEELERILVYLVQEINRADIPLPEGEASPPAPP
LKQVLEMQEQLQKLEVELREVTKNKEKLRKNLLELIEYTHMLRVTKTFVKRNVEFEPTYEEFPSLESDSLLDYSCMQRLGAKLGFVSGLI
NQGKVEAFEKMLWRVCKGYTIVSYAELDESLEDPETGEVIKWYVFLISFWGEQIGHKVKKICDCYHCHVYPYPNTAEERREIQEGLNTRI
QDLYTVLHKTEDYLRQVLCKAAESVYSRVIQVKKMKAIYHMLNMCSFDVTNKCLIAEVWCPEADLQDLRRALEEGSLLTPEDYQRFLDLG
ISIAENRSAFSYHCKTPDCKGWCFFEDDVNEFTCPVCFHVNCLLCKAIHEQMNCKEYQEDLALRAQNDVAARQTTEMLKVMLQQGEAMRC

--------------------------------------------------------------
>8102_8102_2_ATP6V0A2-RBCK1_ATP6V0A2_chr12_124221818_ENST00000330342_RBCK1_chr20_407957_ENST00000356286_length(transcript)=2326nt_BP=1286nt
GGGGGCGGAACCGGAACCGGCAGTGGCTTGGGGGCGGGACCTCGCGGACTGCTGTGGCGGCAGCTGGAGCGGCGGCCGCGGTGGCAGAAC
CGGGGGCGGCCGCTGCAGTCTGGAGCCCCATAGTGCGGGGCCGCGGCCAGGCCACAGGAAGAGCTCGAGGCCCGGGCCGCACCGGCTGAG
TGTGCGGGCCCGCGCGGCTCGGAGCCGCCGCCGCCCATCGAGCCCCTCCGGGCGCGGGTCGGCCCGCCATGGGGTCCCTGTTCCGGAGCG
AGACCATGTGCCTGGCGCAGCTCTTCCTGCAGTCGGGCACGGCCTACGAGTGCCTCAGCGCCCTGGGCGAGAAAGGCCTGGTCCAGTTCC
GAGACCTCAACCAGAACGTAAGTTCTTTCCAAAGAAAATTTGTTGGTGAGGTGAAGAGGTGTGAAGAGCTAGAGCGAATATTGGTGTATT
TGGTACAGGAAATTAATAGAGCTGATATTCCCCTTCCTGAAGGAGAGGCCAGCCCTCCTGCGCCACCCCTGAAACAGGTTCTAGAAATGC
AGGAGCAGTTGCAGAAGCTCGAGGTTGAACTGAGAGAAGTCACTAAGAACAAGGAGAAACTGAGGAAAAACTTGCTGGAACTGATAGAGT
ACACTCACATGCTGAGAGTGACAAAGACCTTTGTGAAACGCAATGTTGAGTTTGAACCCACTTATGAAGAATTCCCTTCCTTAGAGAGTG
ATTCTTTGTTGGATTACAGCTGTATGCAGAGGCTGGGAGCAAAACTGGGATTTGTGTCTGGCCTAATTAACCAAGGAAAAGTGGAAGCAT
TTGAAAAAATGTTGTGGAGAGTCTGCAAAGGGTACACCATCGTGTCCTATGCAGAACTGGATGAATCCCTTGAAGACCCTGAAACAGGGG
AAGTCATAAAATGGTATGTCTTTTTAATATCCTTTTGGGGAGAGCAGATTGGCCACAAGGTTAAGAAGATATGTGATTGCTACCACTGCC
ACGTGTACCCCTATCCAAACACAGCCGAGGAGCGGAGGGAGATCCAGGAGGGGCTGAACACCCGCATCCAGGATCTCTACACTGTACTGC
ACAAAACCGAGGACTATTTGAGGCAAGTGCTATGTAAAGCCGCCGAGTCTGTCTACAGCCGTGTGATCCAGGTGAAGAAAATGAAGGCCA
TCTATCACATGCTGAACATGTGCAGCTTTGACGTGACCAACAAGTGCCTCATTGCTGAGGTCTGGTGTCCCGAGGCGGATCTGCAGGACC
TGCGCCGGGCACTGGAGGAGGGCTCGCTCCTGACCCCTGAGGATTACCAGCGATTTCTAGACCTGGGCATCTCCATTGCTGAAAACCGCA
GTGCCTTCAGCTACCATTGCAAGACCCCAGATTGCAAGGGATGGTGCTTCTTTGAGGATGATGTCAATGAGTTCACCTGCCCTGTGTGTT
TCCACGTCAACTGCCTGCTCTGCAAGGCCATCCATGAGCAGATGAACTGCAAGGAGTATCAGGAGGACCTGGCCCTGCGGGCTCAGAACG
ATGTGGCTGCCCGGCAGACGACAGAGATGCTGAAGGTGATGCTGCAGCAGGGCGAGGCCATGCGCTGCCCCCAGTGCCAGATCGTGGTAC
AGAAGAAGGACGGCTGCGACTGGATCCGCTGCACCGTCTGCCACACCGAGATCTGCTGGGTCACCAAGGGCCCACGCTGGGGCCCTGGGG
GCCCAGGAGACACCAGCGGGGGCTGCCGCTGCAGGGTAAATGGGATTCCTTGCCACCCAAGCTGTCAGAACTGCCACTGAGCTAAAGATG
GTGGGGCCACATGCTGACCCAGCCCCACATCCACATTCTGTTAGAATGTAGCTCAGGGAGCTTCGTGGACGGCCTTGCTTGCTGTAGCGT
TGTAGGGGCCCTGCCTGCACTGCGGTTGTCCACGGTCACATCTGCCCCAGTGCCTTTGTCCTTCCCTTGGGGCTTGCCGGCCAGACTTCT
CTCCCCTGCGGCTCCCACCTCTGCCTGACCCCAGCCTTAAACATAGCCCCTGGCCAGAGGCCTTGCTGGGTGGAGCCTCTGTGTGACTCC
ATACTCCTCCCACCACAACACTCATCTGTCAAACACCAAGCACTCTCAGCCTCCCCGCCTTCAGCTGTCAGCTTTCTGGGGCTAACTTCT
CTGCCTTTGTGGTTGGAGGCCTGAGGCCTCTTGGAACTCTTGCTAACCTGTTCAGAGCCAGGAAGGAGACTGCACAGTTTTGAAAGCACA

>8102_8102_2_ATP6V0A2-RBCK1_ATP6V0A2_chr12_124221818_ENST00000330342_RBCK1_chr20_407957_ENST00000356286_length(amino acids)=513AA_BP=346
MGSLFRSETMCLAQLFLQSGTAYECLSALGEKGLVQFRDLNQNVSSFQRKFVGEVKRCEELERILVYLVQEINRADIPLPEGEASPPAPP
LKQVLEMQEQLQKLEVELREVTKNKEKLRKNLLELIEYTHMLRVTKTFVKRNVEFEPTYEEFPSLESDSLLDYSCMQRLGAKLGFVSGLI
NQGKVEAFEKMLWRVCKGYTIVSYAELDESLEDPETGEVIKWYVFLISFWGEQIGHKVKKICDCYHCHVYPYPNTAEERREIQEGLNTRI
QDLYTVLHKTEDYLRQVLCKAAESVYSRVIQVKKMKAIYHMLNMCSFDVTNKCLIAEVWCPEADLQDLRRALEEGSLLTPEDYQRFLDLG
ISIAENRSAFSYHCKTPDCKGWCFFEDDVNEFTCPVCFHVNCLLCKAIHEQMNCKEYQEDLALRAQNDVAARQTTEMLKVMLQQGEAMRC

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>8102_8102_3_ATP6V0A2-RBCK1_ATP6V0A2_chr12_124221818_ENST00000330342_RBCK1_chr20_407957_ENST00000382181_length(transcript)=2326nt_BP=1286nt
GGGGGCGGAACCGGAACCGGCAGTGGCTTGGGGGCGGGACCTCGCGGACTGCTGTGGCGGCAGCTGGAGCGGCGGCCGCGGTGGCAGAAC
CGGGGGCGGCCGCTGCAGTCTGGAGCCCCATAGTGCGGGGCCGCGGCCAGGCCACAGGAAGAGCTCGAGGCCCGGGCCGCACCGGCTGAG
TGTGCGGGCCCGCGCGGCTCGGAGCCGCCGCCGCCCATCGAGCCCCTCCGGGCGCGGGTCGGCCCGCCATGGGGTCCCTGTTCCGGAGCG
AGACCATGTGCCTGGCGCAGCTCTTCCTGCAGTCGGGCACGGCCTACGAGTGCCTCAGCGCCCTGGGCGAGAAAGGCCTGGTCCAGTTCC
GAGACCTCAACCAGAACGTAAGTTCTTTCCAAAGAAAATTTGTTGGTGAGGTGAAGAGGTGTGAAGAGCTAGAGCGAATATTGGTGTATT
TGGTACAGGAAATTAATAGAGCTGATATTCCCCTTCCTGAAGGAGAGGCCAGCCCTCCTGCGCCACCCCTGAAACAGGTTCTAGAAATGC
AGGAGCAGTTGCAGAAGCTCGAGGTTGAACTGAGAGAAGTCACTAAGAACAAGGAGAAACTGAGGAAAAACTTGCTGGAACTGATAGAGT
ACACTCACATGCTGAGAGTGACAAAGACCTTTGTGAAACGCAATGTTGAGTTTGAACCCACTTATGAAGAATTCCCTTCCTTAGAGAGTG
ATTCTTTGTTGGATTACAGCTGTATGCAGAGGCTGGGAGCAAAACTGGGATTTGTGTCTGGCCTAATTAACCAAGGAAAAGTGGAAGCAT
TTGAAAAAATGTTGTGGAGAGTCTGCAAAGGGTACACCATCGTGTCCTATGCAGAACTGGATGAATCCCTTGAAGACCCTGAAACAGGGG
AAGTCATAAAATGGTATGTCTTTTTAATATCCTTTTGGGGAGAGCAGATTGGCCACAAGGTTAAGAAGATATGTGATTGCTACCACTGCC
ACGTGTACCCCTATCCAAACACAGCCGAGGAGCGGAGGGAGATCCAGGAGGGGCTGAACACCCGCATCCAGGATCTCTACACTGTACTGC
ACAAAACCGAGGACTATTTGAGGCAAGTGCTATGTAAAGCCGCCGAGTCTGTCTACAGCCGTGTGATCCAGGTGAAGAAAATGAAGGCCA
TCTATCACATGCTGAACATGTGCAGCTTTGACGTGACCAACAAGTGCCTCATTGCTGAGGTCTGGTGTCCCGAGGCGGATCTGCAGGACC
TGCGCCGGGCACTGGAGGAGGGCTCGCTCCTGACCCCTGAGGATTACCAGCGATTTCTAGACCTGGGCATCTCCATTGCTGAAAACCGCA
GTGCCTTCAGCTACCATTGCAAGACCCCAGATTGCAAGGGATGGTGCTTCTTTGAGGATGATGTCAATGAGTTCACCTGCCCTGTGTGTT
TCCACGTCAACTGCCTGCTCTGCAAGGCCATCCATGAGCAGATGAACTGCAAGGAGTATCAGGAGGACCTGGCCCTGCGGGCTCAGAACG
ATGTGGCTGCCCGGCAGACGACAGAGATGCTGAAGGTGATGCTGCAGCAGGGCGAGGCCATGCGCTGCCCCCAGTGCCAGATCGTGGTAC
AGAAGAAGGACGGCTGCGACTGGATCCGCTGCACCGTCTGCCACACCGAGATCTGCTGGGTCACCAAGGGCCCACGCTGGGGCCCTGGGG
GCCCAGGAGACACCAGCGGGGGCTGCCGCTGCAGGGTAAATGGGATTCCTTGCCACCCAAGCTGTCAGAACTGCCACTGAGCTAAAGATG
GTGGGGCCACATGCTGACCCAGCCCCACATCCACATTCTGTTAGAATGTAGCTCAGGGAGCTTCGTGGACGGCCTTGCTTGCTGTAGCGT
TGTAGGGGCCCTGCCTGCACTGCGGTTGTCCACGGTCACATCTGCCCCAGTGCCTTTGTCCTTCCCTTGGGGCTTGCCGGCCAGACTTCT
CTCCCCTGCGGCTCCCACCTCTGCCTGACCCCAGCCTTAAACATAGCCCCTGGCCAGAGGCCTTGCTGGGTGGAGCCTCTGTGTGACTCC
ATACTCCTCCCACCACAACACTCATCTGTCAAACACCAAGCACTCTCAGCCTCCCCGCCTTCAGCTGTCAGCTTTCTGGGGCTAACTTCT
CTGCCTTTGTGGTTGGAGGCCTGAGGCCTCTTGGAACTCTTGCTAACCTGTTCAGAGCCAGGAAGGAGACTGCACAGTTTTGAAAGCACA

>8102_8102_3_ATP6V0A2-RBCK1_ATP6V0A2_chr12_124221818_ENST00000330342_RBCK1_chr20_407957_ENST00000382181_length(amino acids)=513AA_BP=346
MGSLFRSETMCLAQLFLQSGTAYECLSALGEKGLVQFRDLNQNVSSFQRKFVGEVKRCEELERILVYLVQEINRADIPLPEGEASPPAPP
LKQVLEMQEQLQKLEVELREVTKNKEKLRKNLLELIEYTHMLRVTKTFVKRNVEFEPTYEEFPSLESDSLLDYSCMQRLGAKLGFVSGLI
NQGKVEAFEKMLWRVCKGYTIVSYAELDESLEDPETGEVIKWYVFLISFWGEQIGHKVKKICDCYHCHVYPYPNTAEERREIQEGLNTRI
QDLYTVLHKTEDYLRQVLCKAAESVYSRVIQVKKMKAIYHMLNMCSFDVTNKCLIAEVWCPEADLQDLRRALEEGSLLTPEDYQRFLDLG
ISIAENRSAFSYHCKTPDCKGWCFFEDDVNEFTCPVCFHVNCLLCKAIHEQMNCKEYQEDLALRAQNDVAARQTTEMLKVMLQQGEAMRC

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

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Fusion Gene PPI Analysis for ATP6V0A2-RBCK1


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
TgeneRBCK1chr12:124221818chr20:407957ENST000003536606111_220301.0469.0IRF3
TgeneRBCK1chr12:124221818chr20:407957ENST000003562867121_220343.0511.0IRF3
TgeneRBCK1chr12:124221818chr20:407957ENST0000035366061169_131301.0469.0RNF31
TgeneRBCK1chr12:124221818chr20:407957ENST0000035628671269_131343.0511.0RNF31
TgeneRBCK1chr12:124221818chr20:407957ENST000003536606111_270301.0469.0TAB2
TgeneRBCK1chr12:124221818chr20:407957ENST000003562867121_270343.0511.0TAB2


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 ATP6V0A2-RBCK1


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 ATP6V0A2-RBCK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP6V0A2C0268355Cutis Laxa, Autosomal Recessive, Type IIA4CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneATP6V0A2C0406587Wrinkly skin syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneATP6V0A2C4479387CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC2ORPHANET
HgeneATP6V0A2C4479409CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID2ORPHANET
TgeneC4014605POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY5GENOMICS_ENGLAND;UNIPROT
TgeneC4751567Polyglucosan body myopathy type 12ORPHANET
TgeneC0018800Cardiomegaly1CTD_human
TgeneC1383860Cardiac Hypertrophy1CTD_human