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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:UGT3A2-HBB (FusionGDB2 ID:96013)

Fusion Gene Summary for UGT3A2-HBB

check button Fusion gene summary
Fusion gene informationFusion gene name: UGT3A2-HBB
Fusion gene ID: 96013
HgeneTgene
Gene symbol

UGT3A2

HBB

Gene ID

167127

3043

Gene nameUDP glycosyltransferase family 3 member A2hemoglobin subunit beta
Synonyms-CD113t-C|ECYT6|beta-globin
Cytomap

5p13.2

11p15.4

Type of geneprotein-codingprotein-coding
DescriptionUDP-glucuronosyltransferase 3A2UDP glycosyltransferase 3 family, polypeptide A2UDPGT 3A2hemoglobin subunit betabeta globin chainhemoglobin beta subunithemoglobin, beta
Modification date2020031320200313
UniProtAcc.

P68871

Ensembl transtripts involved in fusion geneENST00000282507, ENST00000513300, 
ENST00000545528, ENST00000504954, 
ENST00000335295, 
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: UGT3A2 [Title/Abstract] AND HBB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointUGT3A2(36035622)-HBB(5246907), # 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
HgeneUGT3A2

GO:0071412

cellular response to genistein

22621930

TgeneHBB

GO:0010942

positive regulation of cell death

19740759

TgeneHBB

GO:0042542

response to hydrogen peroxide

19740759

TgeneHBB

GO:0042744

hydrogen peroxide catabolic process

19740759


check buttonFusion gene breakpoints across UGT3A2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across HBB (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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/ABE843851UGT3A2chr5

36035622

-HBBchr11

5246907

-


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Fusion Gene ORF analysis for UGT3A2-HBB

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-3CDSENST00000282507ENST00000335295UGT3A2chr5

36035622

-HBBchr11

5246907

-
intron-3CDSENST00000513300ENST00000335295UGT3A2chr5

36035622

-HBBchr11

5246907

-
intron-3CDSENST00000545528ENST00000335295UGT3A2chr5

36035622

-HBBchr11

5246907

-
intron-3CDSENST00000504954ENST00000335295UGT3A2chr5

36035622

-HBBchr11

5246907

-

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 UGT3A2-HBB


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

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.

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Fusion Protein Features for UGT3A2-HBB


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

P68871

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Involved in oxygen transport from the lung to the various peripheral tissues. {ECO:0000269|PubMed:28066926}.; FUNCTION: LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure.; FUNCTION: [Spinorphin]: functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation.

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 UGT3A2-HBB


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 UGT3A2-HBB


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 UGT3A2-HBB


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneHBBP68871DB06154Pentaerythritol tetranitrateAgonistSmall moleculeApproved
TgeneHBBP68871DB09517Sodium ferric gluconate complexBindingSmall moleculeApproved
TgeneHBBP68871DB14548Zinc sulfate, unspecified formInducerSmall moleculeApproved|Experimental
TgeneHBBP68871DB01593ZincSmall moleculeApproved|Investigational
TgeneHBBP68871DB09112Nitrous acidOxidizerSmall moleculeApproved|Investigational
TgeneHBBP68871DB09130CopperSmall moleculeApproved|Investigational
TgeneHBBP68871DB13995Ferric pyrophosphate citrateBinderSmall moleculeApproved|Investigational
TgeneHBBP68871DB14487Zinc acetateSmall moleculeApproved|Investigational
TgeneHBBP68871DB14533Zinc chlorideInducerSmall moleculeApproved|Investigational
TgeneHBBP68871DB00893Iron DextranActivatorSmall moleculeApproved|Vet_approved

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Related Diseases for UGT3A2-HBB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneHBBC0005283beta Thalassemia13CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneHBBC0002895Anemia, Sickle Cell8CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneHBBC0002875Cooley's anemia7CTD_human;ORPHANET
TgeneHBBC0019025Hemoglobin F Disease7CTD_human;ORPHANET
TgeneHBBC0085578Thalassemia Minor6CTD_human
TgeneHBBC0271979Thalassemia Intermedia6CTD_human
TgeneHBBC0032461Polycythemia2CTD_human
TgeneHBBC0272080Hemoglobin D disease2ORPHANET
TgeneHBBC1527405Erythrocytosis2CTD_human
TgeneHBBC1858990Beta Thalassemia, Dominant Inclusion Body Type2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneHBBC0010520Cyanosis1CTD_human
TgeneHBBC0013502Echinococcosis1CTD_human
TgeneHBBC0019021Hemoglobin C Disease1ORPHANET
TgeneHBBC0019045Hemoglobinopathies1CTD_human
TgeneHBBC0024535Malaria, Falciparum1CTD_human
TgeneHBBC0025637Methemoglobinemia1CTD_human
TgeneHBBC0032463Polycythemia Vera1CTD_human
TgeneHBBC0038002Splenomegaly1CTD_human
TgeneHBBC0238159Hemoglobin E disease1ORPHANET
TgeneHBBC0263454Chloracne1CTD_human
TgeneHBBC0271985Delta-Beta Thalassemia1ORPHANET
TgeneHBBC0472767Beta thalassemia intermedia1ORPHANET
TgeneHBBC0472777Hemoglobin E/beta thalassemia disease1ORPHANET
TgeneHBBC0700299Heinz Body Anemias1CTD_human;GENOMICS_ENGLAND
TgeneHBBC1841621FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 11GENOMICS_ENGLAND
TgeneHBBC3665425Hemoglobin M Disease1ORPHANET
TgeneHBBC4551637Erythrocytosis familial, 11GENOMICS_ENGLAND
TgeneHBBC4553297Cystic Echinocccosis1CTD_human