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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 3459

FusionGeneSummary for ATP6V1A_OPA1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6V1A_OPA1
Fusion gene ID: 3459
HgeneTgene
Gene symbol

ATP6V1A

OPA1

Gene ID

523

9968

Gene nameATPase H+ transporting V1 subunit Amediator complex subunit 12
SynonymsARCL2D|ATP6A1|ATP6V1A1|HO68|VA68|VPP2|Vma1ARC240|CAGH45|FGS1|HOPA|MED12S|OHDOX|OKS|OPA1|TNRC11|TRAP230
Cytomap

3q13.31

Xq13.1

Type of geneprotein-codingprotein-coding
DescriptionV-type proton ATPase catalytic subunit AATPase, H+ transporting, lysosomal 70kDa, V1 subunit AATPase, H+ transporting, lysosomal, subunit A1H(+)-transporting two-sector ATPase, subunit AH+-transporting ATPase chain A, vacuolar (VA68 type)V-ATPase 69 mediator of RNA polymerase II transcription subunit 12CAG repeat protein 45OPA-containing proteinactivator-recruited cofactor 240 kDa componenthuman opposite pairedmediator of RNA polymerase II transcription, subunit 12 homologputative mediator subu
Modification date2018052320180527
UniProtAcc

P38606

O60313

Ensembl transtripts involved in fusion geneENST00000273398, ENST00000538620, 
ENST00000461496, 
ENST00000361828, 
ENST00000361510, ENST00000361150, 
ENST00000361715, ENST00000361908, 
ENST00000392438, ENST00000487986, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 3 X 3=27
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ATP6V1A [Title/Abstract] AND OPA1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
TgeneOPA1

GO:0006367

transcription initiation from RNA polymerase II promoter

12218053

TgeneOPA1

GO:0030518

intracellular steroid hormone receptor signaling pathway

11867769

TgeneOPA1

GO:0030521

androgen receptor signaling pathway

12218053

TgeneOPA1

GO:0045893

positive regulation of transcription, DNA-templated

10198638

TgeneOPA1

GO:0045944

positive regulation of transcription by RNA polymerase II

12037571


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBRCATCGA-A8-A06U-01AATP6V1Achr3

113465960

+OPA1chr3

193349401

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
5UTR-3CDSENST00000273398ENST00000361828ATP6V1Achr3

113465960

+OPA1chr3

193349401

+
5UTR-3CDSENST00000273398ENST00000361510ATP6V1Achr3

113465960

+OPA1chr3

193349401

+
5UTR-3CDSENST00000273398ENST00000361150ATP6V1Achr3

113465960

+OPA1chr3

193349401

+
5UTR-3CDSENST00000273398ENST00000361715ATP6V1Achr3

113465960

+OPA1chr3

193349401

+
5UTR-3CDSENST00000273398ENST00000361908ATP6V1Achr3

113465960

+OPA1chr3

193349401

+
5UTR-3CDSENST00000273398ENST00000392438ATP6V1Achr3

113465960

+OPA1chr3

193349401

+
5UTR-intronENST00000273398ENST00000487986ATP6V1Achr3

113465960

+OPA1chr3

193349401

+
5UTR-3CDSENST00000538620ENST00000361828ATP6V1Achr3

113465960

+OPA1chr3

193349401

+
5UTR-3CDSENST00000538620ENST00000361510ATP6V1Achr3

113465960

+OPA1chr3

193349401

+
5UTR-3CDSENST00000538620ENST00000361150ATP6V1Achr3

113465960

+OPA1chr3

193349401

+
5UTR-3CDSENST00000538620ENST00000361715ATP6V1Achr3

113465960

+OPA1chr3

193349401

+
5UTR-3CDSENST00000538620ENST00000361908ATP6V1Achr3

113465960

+OPA1chr3

193349401

+
5UTR-3CDSENST00000538620ENST00000392438ATP6V1Achr3

113465960

+OPA1chr3

193349401

+
5UTR-intronENST00000538620ENST00000487986ATP6V1Achr3

113465960

+OPA1chr3

193349401

+
intron-3CDSENST00000461496ENST00000361828ATP6V1Achr3

113465960

+OPA1chr3

193349401

+
intron-3CDSENST00000461496ENST00000361510ATP6V1Achr3

113465960

+OPA1chr3

193349401

+
intron-3CDSENST00000461496ENST00000361150ATP6V1Achr3

113465960

+OPA1chr3

193349401

+
intron-3CDSENST00000461496ENST00000361715ATP6V1Achr3

113465960

+OPA1chr3

193349401

+
intron-3CDSENST00000461496ENST00000361908ATP6V1Achr3

113465960

+OPA1chr3

193349401

+
intron-3CDSENST00000461496ENST00000392438ATP6V1Achr3

113465960

+OPA1chr3

193349401

+
intron-intronENST00000461496ENST00000487986ATP6V1Achr3

113465960

+OPA1chr3

193349401

+

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FusionProtFeatures for ATP6V1A_OPA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP6V1A

P38606

OPA1

O60313

Catalytic subunit of the peripheral V1 complex ofvacuolar ATPase. V-ATPase vacuolar ATPase is responsible foracidifying a variety of intracellular compartments in eukaryoticcells. In aerobic conditions, involved in intracellular ironhomeostasis, thus triggering the activity of Fe(2+) prolylhydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation andsubsequent proteasomal degradation (PubMed:28296633).{ECO:0000269|PubMed:28296633}. Dynamin-related GTPase that is essential for normalmitochondrial morphology by regulating the equilibrium betweenmitochondrial fusion and mitochondrial fission (PubMed:16778770,PubMed:17709429, PubMed:20185555, PubMed:24616225,PubMed:28746876). Coexpression of isoform 1 with shorteralternative products is required for optimal activity in promotingmitochondrial fusion (PubMed:17709429). Binds lipid membranesenriched in negatively charged phospholipids, such as cardiolipin,and promotes membrane tubulation (PubMed:20185555). The intrinsicGTPase activity is low, and is strongly increased by interactionwith lipid membranes (PubMed:20185555). Plays a role in remodelingcristae and the release of cytochrome c during apoptosis (Bysimilarity). Proteolytic processing in response to intrinsicapoptotic signals may lead to disassembly of OPA1 oligomers andrelease of the caspase activator cytochrome C (CYCS) into themitochondrial intermembrane space (By similarity). Plays a role inmitochondrial genome maintenance (PubMed:20974897,PubMed:18158317). {ECO:0000250|UniProtKB:P58281,ECO:0000269|PubMed:16778770, ECO:0000269|PubMed:17709429,ECO:0000269|PubMed:18158317, ECO:0000269|PubMed:20185555,ECO:0000269|PubMed:20974897, ECO:0000269|PubMed:24616225,ECO:0000269|PubMed:28746876}. Dynamin-like 120 kDa protein, form S1: Inactive formproduced by cleavage at S1 position by OMA1 following stressconditions that induce loss of mitochondrial membrane potential,leading to negative regulation of mitochondrial fusion.{ECO:0000269|PubMed:20038677}. Isoforms that contain the alternative exon 4b (presentin isoform 4 and isoform 5) are required for mitochondrial genomemaintenance, possibly by anchoring the mitochondrial nucleoids tothe inner mitochondrial membrane. {ECO:0000269|PubMed:20974897}.

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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FusionGeneSequence for ATP6V1A_OPA1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for ATP6V1A_OPA1


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
ATP6V1ATK1, CDKN1A, SMN1, ANXA7, ELAVL1, CUL3, ATP6V1B1, ATP5A1, ATP6V1F, ATP5C1, TXNL1, VAPA, XIAP, PRDX6, CSE1L, ZNF593, RMDN3, ZNF706, DDX28, UBXN1, VCL, EIF3F, MSLN, PRDX2, EIF4A1, PTGR1, MARCKSL1, AHCY, TXNDC17, UBR1, USP5, DARS, TXNDC5, UBE2S, TIPRL, URM1, RPA2, ATP4A, FBXO6, HSPD1, MTAP, RAB1A, MTPN, PDIA3, RBBP4, CUL7, ABCE1, ATP6V1C2, ATP6V0D1, ACADM, ATP1A1, ATP1A2, ATP1A3, ATP6V1B2, ATP6V1D, ATP6V1E1, ATP6V1H, CAPN1, CIAPIN1, DNAJC13, SUCLG2, SULT1C3, UNC45A, VDAC3, XPNPEP1, COG2, COG8, COX4I1, DDOST, EEF1E1, EIF4A3, MCMBP, PDCD10, RAB2A, RPN1, SHMT2, STOM, VDAC1, VDAC2, NTRK1, DBN1, RAB5C, PDLIM7, ATP6AP2, GOLT1B, TMEM63B, CHMP4B, SOD1OPA1MME, ELAVL1, CUL3, CAND1, SMAD2, SMAD3, APP, ILF3, NDUFS8, DNASE2, ECH1, NDUFS1, NIT2, HSP90AA5P, NDUFA9, HADHB, NPTX1, HTRA2, MYC, PARK2, EGFR, BNIP3, PRDX3, SCGN, SCN2B, UNK, ARHGAP17, EEF2, EHD1, NTRK1, XRCC3, MCM2, COQ9, PTPN7, VIPR2, FAM196A, NPY2R, PTH1R, FAM174A, EPHA1, GID8


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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RelatedDrugs for ATP6V1A_OPA1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneATP6V1AP38606DB00630Alendronic acidV-type proton ATPase catalytic subunit Asmall moleculeapproved
HgeneATP6V1AP38606DB01077Etidronic acidV-type proton ATPase catalytic subunit Asmall moleculeapproved
HgeneATP6V1AP38606DB01133Tiludronic acidV-type proton ATPase catalytic subunit Asmall moleculeapproved|investigational|vet_approved

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RelatedDiseases for ATP6V1A_OPA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneOPA1C0338508Optic Atrophy, Autosomal Dominant21CTD_human;ORPHANET;UNIPROT
TgeneOPA1C3276549OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY10UNIPROT
TgeneOPA1C0036341Schizophrenia2PSYGENET
TgeneOPA1C0029408Degenerative polyarthritis1CTD_human
TgeneOPA1C0221061Behr syndrome1ORPHANET;UNIPROT
TgeneOPA1C4225163MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)1UNIPROT