UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use
Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:ATP6V0A2-RBCK1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ATP6V0A2-RBCK1
FusionPDB ID: 8102
FusionGDB2.0 ID: 8102
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

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 geneENST idsENST00000330342, ENST00000543687, 
ENST00000544833, 		ENST00000400245, 
ENST00000400247, ENST00000475269, 
ENST00000353660, ENST00000356286, 
ENST00000382181, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* 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 (manual curation of fusion genes in FusionPDB)

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

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ATP6V0A2(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


Top

Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4STADTCGA-D7-5577-01AATP6V0A2chr12

124221818

+RBCK1chr20

407957

+


Top

Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
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

Top

Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>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(amino acids)=513AA_BP=346
MGSLFRSETMCLAQLFLQSGTAYECLSALGEKGLVQFRDLNQNVSSFQRKFVGEVKRCEELERILVYLVQEINRADIPLPEGEASPPAPP
LKQVLEMQEQLQKLEVELREVTKNKEKLRKNLLELIEYTHMLRVTKTFVKRNVEFEPTYEEFPSLESDSLLDYSCMQRLGAKLGFVSGLI
NQGKVEAFEKMLWRVCKGYTIVSYAELDESLEDPETGEVIKWYVFLISFWGEQIGHKVKKICDCYHCHVYPYPNTAEERREIQEGLNTRI
QDLYTVLHKTEDYLRQVLCKAAESVYSRVIQVKKMKAIYHMLNMCSFDVTNKCLIAEVWCPEADLQDLRRALEEGSLLTPEDYQRFLDLG
ISIAENRSAFSYHCKTPDCKGWCFFEDDVNEFTCPVCFHVNCLLCKAIHEQMNCKEYQEDLALRAQNDVAARQTTEMLKVMLQQGEAMRC

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

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

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

Top

Fusion Protein Functional Features


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: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneRBCK1chr12:124221818chr20:407957ENST00000353660611351_411301.0469.0Zinc fingerIBR-type
TgeneRBCK1chr12:124221818chr20:407957ENST00000353660611447_476301.0469.0Zinc fingerRING-type 2%3B atypical
TgeneRBCK1chr12:124221818chr20:407957ENST00000356286712351_411343.0511.0Zinc fingerIBR-type
TgeneRBCK1chr12:124221818chr20:407957ENST00000356286712447_476343.0511.0Zinc fingerRING-type 2%3B atypical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+9201_393346.0857.0Topological domainCytoplasmic
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920413_414346.0857.0Topological domainVacuolar
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920432_445346.0857.0Topological domainCytoplasmic
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920476_549346.0857.0Topological domainVacuolar
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920570_587346.0857.0Topological domainCytoplasmic
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920609_651346.0857.0Topological domainVacuolar
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920672_739346.0857.0Topological domainCytoplasmic
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920765_785346.0857.0Topological domainVacuolar
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920825_856346.0857.0Topological domainCytoplasmic
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920394_412346.0857.0TransmembraneHelical
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920415_431346.0857.0TransmembraneHelical
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920446_475346.0857.0TransmembraneHelical
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920550_569346.0857.0TransmembraneHelical
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920588_608346.0857.0TransmembraneHelical
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920652_671346.0857.0TransmembraneHelical
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920740_764346.0857.0TransmembraneHelical
HgeneATP6V0A2chr12:124221818chr20:407957ENST00000330342+920786_824346.0857.0TransmembraneHelical
TgeneRBCK1chr12:124221818chr20:407957ENST00000353660611233_261301.0469.0Coiled coilOntology_term=ECO:0000255
TgeneRBCK1chr12:124221818chr20:407957ENST00000356286712233_261343.0511.0Coiled coilOntology_term=ECO:0000255
TgeneRBCK1chr12:124221818chr20:407957ENST0000035366061155_119301.0469.0DomainUbiquitin-like
TgeneRBCK1chr12:124221818chr20:407957ENST0000035628671255_119343.0511.0DomainUbiquitin-like
TgeneRBCK1chr12:124221818chr20:407957ENST00000353660611278_506301.0469.0RegionTRIAD supradomain
TgeneRBCK1chr12:124221818chr20:407957ENST00000356286712278_506343.0511.0RegionTRIAD supradomain
TgeneRBCK1chr12:124221818chr20:407957ENST00000353660611193_222301.0469.0Zinc fingerRanBP2-type
TgeneRBCK1chr12:124221818chr20:407957ENST00000353660611282_332301.0469.0Zinc fingerRING-type 1
TgeneRBCK1chr12:124221818chr20:407957ENST00000356286712193_222343.0511.0Zinc fingerRanBP2-type
TgeneRBCK1chr12:124221818chr20:407957ENST00000356286712282_332343.0511.0Zinc fingerRING-type 1


Top

Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ATP6V0A2
RBCK1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
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


Top

Related Drugs to ATP6V0A2-RBCK1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

Top

Related Diseases to ATP6V0A2-RBCK1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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