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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:ABO-HTR3B (FusionGDB2 ID:HG28TG9177)

Fusion Gene Summary for ABO-HTR3B

check button Fusion gene summary
Fusion gene informationFusion gene name: ABO-HTR3B
Fusion gene ID: hg28tg9177
HgeneTgene
Gene symbol

ABO

HTR3B

Gene ID

28

9177

Gene nameABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase5-hydroxytryptamine receptor 3B
SynonymsA3GALNT|A3GALT1|GTB|NAGAT5-HT3B
Cytomap('ABO')('HTR3B')

9q34.2

11q23.2

Type of geneprotein-codingprotein-coding
Descriptionhisto-blood group ABO system transferaseABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)B(A) alpha-1,3-galactosyltransferasehisto-blood group A2 transferase5-hydroxytryptamine receptor 3B5-HT3-B5-hydroxytryptamine (serotonin) receptor 3B, ionotropic5-hydroxytryptamine 3 receptor B subunitserotonin-gated ion channel subunit
Modification date2020032320200313
UniProtAcc

P16442

.
Ensembl transtripts involved in fusion geneENST00000453660, 
Fusion gene scores* DoF score3 X 3 X 2=181 X 1 X 1=1
# samples 31
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: ABO [Title/Abstract] AND HTR3B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointABO(136127865)-HTR3B(113802106), # samples:2
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
* 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
ChimerDB4MESOTCGA-TS-A8AY-01AABOchr9

136127865

-HTR3Bchr11

113802106

+
ChimerDB4MESOTCGA-TS-A8AYABOchr9

136127865

-HTR3Bchr11

113802106

+


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Fusion Gene ORF analysis for ABO-HTR3B

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
intron-3CDSENST00000453660ENST00000260191ABOchr9

136127865

-HTR3Bchr11

113802106

+
intron-3CDSENST00000453660ENST00000537778ABOchr9

136127865

-HTR3Bchr11

113802106

+

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 ABO-HTR3B


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 ABO-HTR3B


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/:136127865/:113802106)
- 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
ABO

P16442

.
FUNCTION: This protein is the basis of the ABO blood group system. The histo-blood group ABO involves three carbohydrate antigens: A, B, and H. A, B, and AB individuals express a glycosyltransferase activity that converts the H antigen to the A antigen (by addition of UDP-GalNAc) or to the B antigen (by addition of UDP-Gal), whereas O individuals lack such activity.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}.

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 ABO-HTR3B


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 ABO-HTR3B


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 ABO-HTR3B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ABO-HTR3B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneABOC0525045Mood Disorders4PSYGENET
HgeneABOC0001973Alcoholic Intoxication, Chronic2PSYGENET
HgeneABOC0030297Pancreatic Neoplasm2CTD_human
HgeneABOC0346647Malignant neoplasm of pancreas2CTD_human
HgeneABOC0010054Coronary Arteriosclerosis1CTD_human
HgeneABOC0010474Curling Ulcer1CTD_human
HgeneABOC0013295Duodenal Ulcer1CTD_human
HgeneABOC0033578Prostatic Neoplasms1CTD_human
HgeneABOC0038454Cerebrovascular accident1CTD_human
HgeneABOC0085762Alcohol abuse1PSYGENET
HgeneABOC0376358Malignant neoplasm of prostate1CTD_human
HgeneABOC0751956Acute Cerebrovascular Accidents1CTD_human
HgeneABOC1956346Coronary Artery Disease1CTD_human
HgeneABOC4317009Diverticular Diseases1CTD_human
HgeneABOC4505353Diverticular Bleeding1CTD_human
HgeneABOC4721610Carcinoma, Ovarian Epithelial1CTD_human
TgeneC0001973Alcoholic Intoxication, Chronic4PSYGENET
TgeneC0005586Bipolar Disorder2PSYGENET
TgeneC0041696Unipolar Depression2PSYGENET
TgeneC1269683Major Depressive Disorder2PSYGENET
TgeneC0011570Mental Depression1PSYGENET
TgeneC0011581Depressive disorder1PSYGENET
TgeneC0026848Myopathy1CTD_human
TgeneC0030193Pain1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0234230Pain, Burning1CTD_human
TgeneC0234238Ache1CTD_human
TgeneC0234254Radiating pain1CTD_human
TgeneC0458257Pain, Splitting1CTD_human
TgeneC0458259Pain, Crushing1CTD_human
TgeneC0751407Pain, Migratory1CTD_human
TgeneC0751408Suffering, Physical1CTD_human