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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:HSD3B7-MAOA (FusionGDB2 ID:HG80270TG4128)

Fusion Gene Summary for HSD3B7-MAOA

check button Fusion gene summary
Fusion gene informationFusion gene name: HSD3B7-MAOA
Fusion gene ID: hg80270tg4128
HgeneTgene
Gene symbol

HSD3B7

MAOA

Gene ID

80270

4128

Gene namehydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7monoamine oxidase A
SynonymsCBAS1|PFIC4|SDR11E3BRNRS|MAO-A
Cytomap('HSD3B7')('MAOA')

16p11.2

Xp11.3

Type of geneprotein-codingprotein-coding
Description3 beta-hydroxysteroid dehydrogenase type 73 beta-hydroxy-delta 5-C27-steroid oxidoreductase3 beta-hydroxysteroid dehydrogenase type VII3-beta-HSD VII3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductaseC(27)-3BETA-HSDc(27) 3-beta-HSDcholest-5-ene-3-beamine oxidase [flavin-containing] Amonoamine oxidase type A
Modification date2020031320200329
UniProtAcc

Q9H2F3

P21397

Ensembl transtripts involved in fusion geneENST00000262520, ENST00000297679, 
ENST00000353250, 
Fusion gene scores* DoF score1 X 1 X 1=16 X 6 X 2=72
# samples 16
** MAII scorelog2(1/1*10)=3.32192809488736log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HSD3B7 [Title/Abstract] AND MAOA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHSD3B7(30999914)-MAOA(43565855), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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 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
ChiTaRS5.0N/AEC494056HSD3B7chr16

30999914

+MAOAchrX

43565855

-


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Fusion Gene ORF analysis for HSD3B7-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
3UTR-intronENST00000262520ENST00000338702HSD3B7chr16

30999914

+MAOAchrX

43565855

-
3UTR-intronENST00000262520ENST00000497485HSD3B7chr16

30999914

+MAOAchrX

43565855

-
3UTR-intronENST00000262520ENST00000542639HSD3B7chr16

30999914

+MAOAchrX

43565855

-
3UTR-intronENST00000297679ENST00000338702HSD3B7chr16

30999914

+MAOAchrX

43565855

-
3UTR-intronENST00000297679ENST00000497485HSD3B7chr16

30999914

+MAOAchrX

43565855

-
3UTR-intronENST00000297679ENST00000542639HSD3B7chr16

30999914

+MAOAchrX

43565855

-
3UTR-intronENST00000353250ENST00000338702HSD3B7chr16

30999914

+MAOAchrX

43565855

-
3UTR-intronENST00000353250ENST00000497485HSD3B7chr16

30999914

+MAOAchrX

43565855

-
3UTR-intronENST00000353250ENST00000542639HSD3B7chr16

30999914

+MAOAchrX

43565855

-

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 HSD3B7-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)


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Fusion Protein Features for HSD3B7-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/:30999914/:43565855)
- 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
HSD3B7

Q9H2F3

MAOA

P21397

FUNCTION: The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis (PubMed:11067870). Plays a key role in cell positioning and movement in lymphoid tissues by mediating degradation of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC): 7-alpha,25-OHC acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells. {ECO:0000250|UniProtKB:Q9EQC1, ECO:0000269|PubMed:11067870}.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 HSD3B7-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 HSD3B7-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 HSD3B7-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 HSD3B7-MAOA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHSD3B7C1843116Bile acid synthesis defect, congenital, 13CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneHSD3B7C0008370Cholestasis1CTD_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