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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: 25435

FusionGeneSummary for OPA1_PIGX

check button Fusion gene summary
Fusion gene informationFusion gene name: OPA1_PIGX
Fusion gene ID: 25435
HgeneTgene
Gene symbol

OPA1

PIGX

Gene ID

9968

54965

Gene namemediator complex subunit 12phosphatidylinositol glycan anchor biosynthesis class X
SynonymsARC240|CAGH45|FGS1|HOPA|MED12S|OHDOX|OKS|OPA1|TNRC11|TRAP230PIG-X
Cytomap

Xq13.1

3q29

Type of geneprotein-codingprotein-coding
Descriptionmediator 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 subuphosphatidylinositol-glycan biosynthesis class X proteinGPI-mannosyltransferase subunit
Modification date2018052720180522
UniProtAcc

O60313

Q8TBF5

Ensembl transtripts involved in fusion geneENST00000361828, ENST00000361510, 
ENST00000361150, ENST00000361715, 
ENST00000361908, ENST00000392438, 
ENST00000487986, 
ENST00000314118, 
ENST00000421265, ENST00000541663, 
ENST00000495440, 
Fusion gene scores* DoF score4 X 3 X 3=364 X 3 X 4=48
# samples 46
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/48*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: OPA1 [Title/Abstract] AND PIGX [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
HgeneOPA1

GO:0006367

transcription initiation from RNA polymerase II promoter

12218053

HgeneOPA1

GO:0030518

intracellular steroid hormone receptor signaling pathway

11867769

HgeneOPA1

GO:0030521

androgen receptor signaling pathway

12218053

HgeneOPA1

GO:0045893

positive regulation of transcription, DNA-templated

10198638

HgeneOPA1

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
TCGARVPRADTCGA-KK-A6E2-01AOPA1chr3

193311198

+PIGXchr3

196443729

+
* 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
5CDS-5UTRENST00000361828ENST00000314118OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-5UTRENST00000361828ENST00000421265OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-5UTRENST00000361828ENST00000541663OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-3UTRENST00000361828ENST00000495440OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-5UTRENST00000361510ENST00000314118OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-5UTRENST00000361510ENST00000421265OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-5UTRENST00000361510ENST00000541663OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-3UTRENST00000361510ENST00000495440OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-5UTRENST00000361150ENST00000314118OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-5UTRENST00000361150ENST00000421265OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-5UTRENST00000361150ENST00000541663OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-3UTRENST00000361150ENST00000495440OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-5UTRENST00000361715ENST00000314118OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-5UTRENST00000361715ENST00000421265OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-5UTRENST00000361715ENST00000541663OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-3UTRENST00000361715ENST00000495440OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-5UTRENST00000361908ENST00000314118OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-5UTRENST00000361908ENST00000421265OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-5UTRENST00000361908ENST00000541663OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-3UTRENST00000361908ENST00000495440OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-5UTRENST00000392438ENST00000314118OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-5UTRENST00000392438ENST00000421265OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-5UTRENST00000392438ENST00000541663OPA1chr3

193311198

+PIGXchr3

196443729

+
5CDS-3UTRENST00000392438ENST00000495440OPA1chr3

193311198

+PIGXchr3

196443729

+
intron-5UTRENST00000487986ENST00000314118OPA1chr3

193311198

+PIGXchr3

196443729

+
intron-5UTRENST00000487986ENST00000421265OPA1chr3

193311198

+PIGXchr3

196443729

+
intron-5UTRENST00000487986ENST00000541663OPA1chr3

193311198

+PIGXchr3

196443729

+
intron-3UTRENST00000487986ENST00000495440OPA1chr3

193311198

+PIGXchr3

196443729

+

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FusionProtFeatures for OPA1_PIGX


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
OPA1

O60313

PIGX

Q8TBF5

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}. Essential component of glycosylphosphatidylinositol-mannosyltransferase 1 which transfers the first of the 4 mannosesin the GPI-anchor precursors during GPI-anchor biosynthesis.Probably acts by stabilizing the mannosyltransferase PIGM (Bysimilarity). {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

- 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 OPA1_PIGX


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 OPA1_PIGX


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
OPA1MME, 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, GID8PIGXFBXW11, CHRM3


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 OPA1_PIGX


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for OPA1_PIGX


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneOPA1C0338508Optic Atrophy, Autosomal Dominant21CTD_human;ORPHANET;UNIPROT
HgeneOPA1C3276549OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY10UNIPROT
HgeneOPA1C0036341Schizophrenia2PSYGENET
HgeneOPA1C0029408Degenerative polyarthritis1CTD_human
HgeneOPA1C0221061Behr syndrome1ORPHANET;UNIPROT
HgeneOPA1C4225163MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)1UNIPROT