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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:OPHN1-MAOA (FusionGDB2 ID:HG4983TG4128)

Fusion Gene Summary for OPHN1-MAOA

check button Fusion gene summary
Fusion gene informationFusion gene name: OPHN1-MAOA
Fusion gene ID: hg4983tg4128
HgeneTgene
Gene symbol

OPHN1

MAOA

Gene ID

4983

4128

Gene nameoligophrenin 1monoamine oxidase A
SynonymsARHGAP41|MRX60|OPN1BRNRS|MAO-A
Cytomap('OPHN1')('MAOA')

Xq12

Xp11.3

Type of geneprotein-codingprotein-coding
Descriptionoligophrenin-1mental retardation, X-linked 60oligophrenin-1, Rho-GTPase activating proteinamine oxidase [flavin-containing] Amonoamine oxidase type A
Modification date2020031320200329
UniProtAcc.

P21397

Ensembl transtripts involved in fusion geneENST00000355520, ENST00000540071, 
ENST00000484842, 
Fusion gene scores* DoF score9 X 7 X 4=2526 X 6 X 2=72
# samples 96
** MAII scorelog2(9/252*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: OPHN1 [Title/Abstract] AND MAOA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointOPHN1(67412761)-MAOA(43590488), # samples:2
Anticipated loss of major functional domain due to fusion event.OPHN1-MAOA seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
OPHN1-MAOA seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
OPHN1-MAOA seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
OPHN1-MAOA 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
HgeneOPHN1

GO:0099149

regulation of postsynaptic neurotransmitter receptor internalization

24966368



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
ChimerDB4BRCATCGA-C8-A273-01AOPHN1chrX

67412761

-MAOAchrX

43590488

+


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Fusion Gene ORF analysis for OPHN1-MAOA

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-3UTRENST00000355520ENST00000497485OPHN1chrX

67412761

-MAOAchrX

43590488

+
5CDS-3UTRENST00000540071ENST00000497485OPHN1chrX

67412761

-MAOAchrX

43590488

+
Frame-shiftENST00000355520ENST00000338702OPHN1chrX

67412761

-MAOAchrX

43590488

+
Frame-shiftENST00000355520ENST00000542639OPHN1chrX

67412761

-MAOAchrX

43590488

+
Frame-shiftENST00000540071ENST00000338702OPHN1chrX

67412761

-MAOAchrX

43590488

+
Frame-shiftENST00000540071ENST00000542639OPHN1chrX

67412761

-MAOAchrX

43590488

+
intron-3CDSENST00000484842ENST00000338702OPHN1chrX

67412761

-MAOAchrX

43590488

+
intron-3CDSENST00000484842ENST00000542639OPHN1chrX

67412761

-MAOAchrX

43590488

+
intron-3UTRENST00000484842ENST00000497485OPHN1chrX

67412761

-MAOAchrX

43590488

+

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)

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

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Fusion Genomic Features for OPHN1-MAOA


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)
OPHN1chrX67412760-MAOAchrX43590487+1.01E-050.99999
OPHN1chrX67412760-MAOAchrX43590487+1.01E-050.99999


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 OPHN1-MAOA


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/:67412761/:43590488)
- 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
.MAOA

P21397

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}.FUNCTION: Catalyzes the oxidative deamination of biogenic and xenobiotic amines and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. MAOA preferentially oxidizes biogenic amines such as 5-hydroxytryptamine (5-HT), norepinephrine and epinephrine.

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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Fusion Gene Sequence for OPHN1-MAOA


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.

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Fusion Gene PPI Analysis for OPHN1-MAOA


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 OPHN1-MAOA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneMAOAP21397DB00780PhenelzineAntagonistSmall moleculeApproved
TgeneMAOAP21397DB00805MinaprineInhibitorSmall moleculeApproved
TgeneMAOAP21397DB01247IsocarboxazidInhibitorSmall moleculeApproved
TgeneMAOAP21397DB01626PargylineInhibitorSmall moleculeApproved
TgeneMAOAP21397DB03147Flavin adenine dinucleotideSmall moleculeApproved
TgeneMAOAP21397DB00191PhentermineAntagonistSmall moleculeApproved|Illicit
TgeneMAOAP21397DB01577MetamfetamineInhibitorSmall moleculeApproved|Illicit
TgeneMAOAP21397DB00752TranylcypromineInhibitorSmall moleculeApproved|Investigational
TgeneMAOAP21397DB00909ZonisamideInhibitorSmall moleculeApproved|Investigational
TgeneMAOAP21397DB01171MoclobemideAntagonist|InhibitorSmall moleculeApproved|Investigational
TgeneMAOAP21397DB14914Flortaucipir F-18BinderSmall moleculeApproved|Investigational
TgeneMAOAP21397DB01037SelegilineInhibitorSmall moleculeApproved|Investigational|Vet_approved
TgeneMAOAP21397DB04820NialamideSmall moleculeApproved|Withdrawn
TgeneMAOAP21397DB04821NomifensineSmall moleculeApproved|Withdrawn
TgeneMAOAP21397DB04832ZimelidineInhibitorSmall moleculeApproved|Withdrawn

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Related Diseases for OPHN1-MAOA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneOPHN1C1845366Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance3CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneOPHN1C1136249Mental Retardation, X-Linked1CTD_human
TgeneC0001973Alcoholic Intoxication, Chronic5PSYGENET
TgeneC0005586Bipolar Disorder5PSYGENET
TgeneC0011570Mental Depression5PSYGENET
TgeneC0011581Depressive disorder5PSYGENET
TgeneC0041696Unipolar Depression5PSYGENET
TgeneC0525045Mood Disorders5PSYGENET
TgeneC1269683Major Depressive Disorder5PSYGENET
TgeneC0796275Brunner Syndrome4CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0003431Antisocial Personality Disorder3CTD_human
TgeneC0004352Autistic Disorder3CTD_human
TgeneC0013409Dyssocial Behavior3CTD_human
TgeneC0019147Hepatic Coma3CTD_human
TgeneC0019151Hepatic Encephalopathy3CTD_human
TgeneC0751197Fulminant Hepatic Failure with Cerebral Edema3CTD_human
TgeneC0751198Hepatic Stupor3CTD_human
TgeneC0036341Schizophrenia2PSYGENET
TgeneC0085762Alcohol abuse2PSYGENET
TgeneC0270458Severe major depression with psychotic features2PSYGENET
TgeneC2362914clinical depression2PSYGENET
TgeneC0004930Behavior Disorders1CTD_human
TgeneC0004936Mental disorders1CTD_human
TgeneC0005587Depression, Bipolar1PSYGENET
TgeneC0009241Cognition Disorders1CTD_human
TgeneC0013415Dysthymic Disorder1PSYGENET
TgeneC0014175Endometriosis1CTD_human
TgeneC0020179Huntington Disease1CTD_human
TgeneC0020649Hypotension1CTD_human
TgeneC0026848Myopathy1CTD_human
TgeneC0030567Parkinson Disease1CTD_human
TgeneC0031511Pheochromocytoma1CTD_human
TgeneC0033054Prenatal Exposure Delayed Effects1CTD_human
TgeneC0033975Psychotic Disorders1PSYGENET
TgeneC0038644Sudden infant death syndrome1GENOMICS_ENGLAND
TgeneC0158850Fetal Malnutrition1CTD_human
TgeneC0269102Endometrioma1CTD_human
TgeneC0376338Diagnosis, Psychiatric1CTD_human
TgeneC0393574Huntington Disease, Late Onset1CTD_human
TgeneC0600427Cocaine Dependence1PSYGENET
TgeneC0745744End Stage Liver Disease1CTD_human
TgeneC0751207Akinetic-Rigid Variant of Huntington Disease1CTD_human
TgeneC0751208Juvenile Huntington Disease1CTD_human
TgeneC1136249Mental Retardation, X-Linked1CTD_human
TgeneC1257877Pheochromocytoma, Extra-Adrenal1CTD_human
TgeneC1285261Fetal Nutrition Disorders1CTD_human
TgeneC2063866Depressive Disorder, Treatment-Resistant1PSYGENET
TgeneC2936476Chronic Liver Failure1CTD_human
TgeneC4046029Mental Disorders, Severe1CTD_human