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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: 25445

FusionGeneSummary for OPHN1_MAOA

check button Fusion gene summary
Fusion gene informationFusion gene name: OPHN1_MAOA
Fusion gene ID: 25445
HgeneTgene
Gene symbol

OPHN1

MAOA

Gene ID

4983

4128

Gene nameoligophrenin 1monoamine oxidase A
SynonymsARHGAP41|MRX60|OPN1BRNRS|MAO-A
Cytomap

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 date2018052320180519
UniProtAcc

O60890

P21397

Ensembl transtripts involved in fusion geneENST00000355520, ENST00000540071, 
ENST00000484842, 		ENST00000338702, 
ENST00000542639, ENST00000497485, 
Fusion gene scores* DoF score3 X 3 X 3=272 X 2 X 2=8
# samples 32
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(2/8*10)=1.32192809488736
Context

PubMed: OPHN1 [Title/Abstract] AND MAOA [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

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-C8-A273-01AOPHN1chrX

67412761

-MAOAchrX

43590488

+
* 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
Frame-shiftENST00000355520ENST00000338702OPHN1chrX

67412761

-MAOAchrX

43590488

+
Frame-shiftENST00000355520ENST00000542639OPHN1chrX

67412761

-MAOAchrX

43590488

+
5CDS-3UTRENST00000355520ENST00000497485OPHN1chrX

67412761

-MAOAchrX

43590488

+
Frame-shiftENST00000540071ENST00000338702OPHN1chrX

67412761

-MAOAchrX

43590488

+
Frame-shiftENST00000540071ENST00000542639OPHN1chrX

67412761

-MAOAchrX

43590488

+
5CDS-3UTRENST00000540071ENST00000497485OPHN1chrX

67412761

-MAOAchrX

43590488

+
intron-3CDSENST00000484842ENST00000338702OPHN1chrX

67412761

-MAOAchrX

43590488

+
intron-3CDSENST00000484842ENST00000542639OPHN1chrX

67412761

-MAOAchrX

43590488

+
intron-3UTRENST00000484842ENST00000497485OPHN1chrX

67412761

-MAOAchrX

43590488

+

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FusionProtFeatures for OPHN1_MAOA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
OPHN1

O60890

MAOA

P21397

Stimulates GTP hydrolysis of members of the Rho family.Its action on RHOA activity and signaling is implicated in growthand stabilization of dendritic spines, and therefore in synapticfunction. Critical for the stabilization of AMPA receptors atpostsynaptic sites. Critical for the regulation of synapticvesicle endocytosis at presynaptic terminals. Required for thelocalization of NR1D1 to dendrites, can suppress its repressoractivity and protect it from proteasomal degradation (Bysimilarity). {ECO:0000250}. Catalyzes the oxidative deamination of biogenic andxenobiotic amines and has important functions in the metabolism ofneuroactive and vasoactive amines in the central nervous systemand peripheral tissues. MAOA preferentially oxidizes biogenicamines such as 5-hydroxytryptamine (5-HT), norepinephrine andepinephrine.

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 OPHN1_MAOA


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 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
OPHN1RHOA, RAC1, CDC42, NXF1, ARHGAP26, TRIM25MAOANDRG1, COQ9, MAOB, MIEF1


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 OPHN1_MAOA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneMAOAP21397DB00780PhenelzineAmine oxidase [flavin-containing] Asmall moleculeapproved
TgeneMAOAP21397DB00805MinaprineAmine oxidase [flavin-containing] Asmall moleculeapproved
TgeneMAOAP21397DB01247IsocarboxazidAmine oxidase [flavin-containing] Asmall moleculeapproved
TgeneMAOAP21397DB01626PargylineAmine oxidase [flavin-containing] Asmall moleculeapproved
TgeneMAOAP21397DB09245ToloxatoneAmine oxidase [flavin-containing] Asmall moleculeapproved
TgeneMAOAP21397DB00191PhentermineAmine oxidase [flavin-containing] Asmall moleculeapproved|illicit
TgeneMAOAP21397DB01577MethamphetamineAmine oxidase [flavin-containing] Asmall moleculeapproved|illicit
TgeneMAOAP21397DB00182AmphetamineAmine oxidase [flavin-containing] Asmall moleculeapproved|illicit|investigational
TgeneMAOAP21397DB00752TranylcypromineAmine oxidase [flavin-containing] Asmall moleculeapproved|investigational
TgeneMAOAP21397DB00909ZonisamideAmine oxidase [flavin-containing] Asmall moleculeapproved|investigational
TgeneMAOAP21397DB01168ProcarbazineAmine oxidase [flavin-containing] Asmall moleculeapproved|investigational
TgeneMAOAP21397DB01171MoclobemideAmine oxidase [flavin-containing] Asmall moleculeapproved|investigational
TgeneMAOAP21397DB01171MoclobemideAmine oxidase [flavin-containing] Asmall moleculeapproved|investigational
TgeneMAOAP21397DB00721ProcaineAmine oxidase [flavin-containing] Asmall moleculeapproved|investigational|vet_approved
TgeneMAOAP21397DB01037SelegilineAmine oxidase [flavin-containing] Asmall moleculeapproved|investigational|vet_approved

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RelatedDiseases for OPHN1_MAOA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneOPHN1C1136249Mental Retardation, X-Linked1CTD_human
TgeneMAOAC0001973Alcoholic Intoxication, Chronic5PSYGENET
TgeneMAOAC0005586Bipolar Disorder5PSYGENET
TgeneMAOAC0011570Mental Depression5PSYGENET
TgeneMAOAC0011581Depressive disorder5PSYGENET
TgeneMAOAC0041696Unipolar Depression5PSYGENET
TgeneMAOAC0525045Mood Disorders5PSYGENET
TgeneMAOAC1269683Major Depressive Disorder5PSYGENET
TgeneMAOAC0003431Antisocial Personality Disorder3CTD_human
TgeneMAOAC0004352Autistic Disorder3CTD_human;HPO
TgeneMAOAC0019151Hepatic Encephalopathy3CTD_human
TgeneMAOAC0036341Schizophrenia2PSYGENET
TgeneMAOAC0085762Alcohol abuse2PSYGENET
TgeneMAOAC0270458Severe major depression with psychotic features2PSYGENET
TgeneMAOAC2362914clinical depression2PSYGENET
TgeneMAOAC0004936Mental disorders1CTD_human
TgeneMAOAC0005587Depression, Bipolar1PSYGENET
TgeneMAOAC0009241Cognition Disorders1CTD_human
TgeneMAOAC0013415Dysthymic Disorder1PSYGENET
TgeneMAOAC0014175Endometriosis1CTD_human
TgeneMAOAC0020179Huntington Disease1CTD_human
TgeneMAOAC0020649Hypotension1CTD_human
TgeneMAOAC0026848Myopathy1CTD_human
TgeneMAOAC0030567Parkinson Disease1CTD_human
TgeneMAOAC0031511Pheochromocytoma1CTD_human
TgeneMAOAC0033054Prenatal Exposure Delayed Effects1CTD_human
TgeneMAOAC0033975Psychotic Disorders1PSYGENET
TgeneMAOAC0600427Cocaine Dependence1PSYGENET
TgeneMAOAC0745744End Stage Liver Disease1CTD_human
TgeneMAOAC1136249Mental Retardation, X-Linked1CTD_human
TgeneMAOAC1285261Fetal Nutrition Disorders1CTD_human
TgeneMAOAC2063866Depressive Disorder, Treatment-Resistant1PSYGENET