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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:DIS3L2-UGT1A1 (FusionGDB2 ID:22906)

Fusion Gene Summary for DIS3L2-UGT1A1

check button Fusion gene summary
Fusion gene informationFusion gene name: DIS3L2-UGT1A1
Fusion gene ID: 22906
HgeneTgene
Gene symbol

DIS3L2

UGT1A1

Gene ID

129563

54658

Gene nameDIS3 like 3'-5' exoribonuclease 2UDP glucuronosyltransferase family 1 member A1
SynonymsFAM6A|PRLMNS|hDIS3L2BILIQTL1|GNT1|HUG-BR1|UDPGT|UDPGT 1-1|UGT1|UGT1A
Cytomap

2q37.1

2q37.1

Type of geneprotein-codingprotein-coding
DescriptionDIS3-like exonuclease 2DIS3 mitotic control homolog-like 2family with sequence similarity 6, member AUDP-glucuronosyltransferase 1-1UDP glucuronosyltransferase 1 family, polypeptide A1UDP glycosyltransferase 1 family, polypeptide A1UDP-glucuronosyltransferase 1-AUDP-glucuronosyltransferase 1A1UGT-1AUGT1*1UGT1-01UGT1.1bilirubin UDP-glucuronosyltr
Modification date2020031320200329
UniProtAcc

Q8IYB7

.
Ensembl transtripts involved in fusion geneENST00000273009, ENST00000360410, 
ENST00000325385, ENST00000409401, 
ENST00000409307, ENST00000470087, 
ENST00000373450, ENST00000609637, 
ENST00000608381, ENST00000609767, 
ENST00000360418, ENST00000608383, 
Fusion gene scores* DoF score27 X 9 X 12=29165 X 1 X 6=30
# samples 256
** MAII scorelog2(25/2916*10)=-3.54399071966485
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/30*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DIS3L2 [Title/Abstract] AND UGT1A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDIS3L2(233028342)-UGT1A1(234675680), # samples:1
Anticipated loss of major functional domain due to fusion event.DIS3L2-UGT1A1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
DIS3L2-UGT1A1 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
HgeneDIS3L2

GO:0010587

miRNA catabolic process

24141620

TgeneUGT1A1

GO:0051552

flavone metabolic process

18052087

TgeneUGT1A1

GO:0052695

cellular glucuronidation

17179145|22579593

TgeneUGT1A1

GO:0052696

flavonoid glucuronidation

20056724

TgeneUGT1A1

GO:0052697

xenobiotic glucuronidation

20056724


check buttonFusion gene breakpoints across DIS3L2 (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 UGT1A1 (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
ChimerDB4GBMTCGA-06-2562-01ADIS3L2chr2

233028342

+UGT1A1chr2

234675680

+


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Fusion Gene ORF analysis for DIS3L2-UGT1A1

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-shiftENST00000273009ENST00000373450DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
Frame-shiftENST00000273009ENST00000609637DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
Frame-shiftENST00000273009ENST00000608381DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
Frame-shiftENST00000273009ENST00000609767DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
Frame-shiftENST00000273009ENST00000360418DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
Frame-shiftENST00000273009ENST00000608383DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
intron-3CDSENST00000360410ENST00000373450DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
intron-3CDSENST00000360410ENST00000609637DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
intron-3CDSENST00000360410ENST00000608381DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
intron-3CDSENST00000360410ENST00000609767DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
intron-3CDSENST00000360410ENST00000360418DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
intron-3CDSENST00000360410ENST00000608383DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
Frame-shiftENST00000325385ENST00000373450DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
Frame-shiftENST00000325385ENST00000609637DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
Frame-shiftENST00000325385ENST00000608381DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
Frame-shiftENST00000325385ENST00000609767DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
Frame-shiftENST00000325385ENST00000360418DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
Frame-shiftENST00000325385ENST00000608383DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
intron-3CDSENST00000409401ENST00000373450DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
intron-3CDSENST00000409401ENST00000609637DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
intron-3CDSENST00000409401ENST00000608381DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
intron-3CDSENST00000409401ENST00000609767DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
intron-3CDSENST00000409401ENST00000360418DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
intron-3CDSENST00000409401ENST00000608383DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
Frame-shiftENST00000409307ENST00000373450DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
Frame-shiftENST00000409307ENST00000609637DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
Frame-shiftENST00000409307ENST00000608381DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
Frame-shiftENST00000409307ENST00000609767DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
Frame-shiftENST00000409307ENST00000360418DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
Frame-shiftENST00000409307ENST00000608383DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
intron-3CDSENST00000470087ENST00000373450DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
intron-3CDSENST00000470087ENST00000609637DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
intron-3CDSENST00000470087ENST00000608381DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
intron-3CDSENST00000470087ENST00000609767DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
intron-3CDSENST00000470087ENST00000360418DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+
intron-3CDSENST00000470087ENST00000608383DIS3L2chr2

233028342

+UGT1A1chr2

234675680

+

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 DIS3L2-UGT1A1


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)
DIS3L2chr2233028342+UGT1A1chr2234675679+3.24E-070.99999964
DIS3L2chr2233028342+UGT1A1chr2234675679+3.24E-070.99999964

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 DIS3L2-UGT1A1


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
DIS3L2

Q8IYB7

.
FUNCTION: 3'-5'-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3' end and mediates their degradation. Component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs that have been polyuridylated by a terminal uridylyltransferase, such as ZCCHC11/TUT4. Mediates degradation of cytoplasmic mRNAs that have been deadenylated and subsequently uridylated at their 3'. Mediates degradation of uridylated pre-let-7 miRNAs, contributing to the maintenance of embryonic stem (ES) cells. Essential for correct mitosis, and negatively regulates cell proliferation. {ECO:0000255|HAMAP-Rule:MF_03045, ECO:0000269|PubMed:23756462, ECO:0000269|PubMed:24141620}.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.

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 DIS3L2-UGT1A1


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 DIS3L2-UGT1A1


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 DIS3L2-UGT1A1


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 DIS3L2-UGT1A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDIS3L2C0796113Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor6CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneUGT1A1C2931132Crigler Najjar syndrome, type 219CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneUGT1A1C0010324Crigler Najjar syndrome, type 115CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneUGT1A1C0017551Gilbert Disease (disorder)8CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneUGT1A1C0020433Hyperbilirubinemia5CTD_human
TgeneUGT1A1C0022610Kernicterus2CTD_human
TgeneUGT1A1C0270210Lucey-Driscoll syndrome (disorder)2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneUGT1A1C0011616Contact Dermatitis1CTD_human
TgeneUGT1A1C0013221Drug toxicity1CTD_human
TgeneUGT1A1C0019829Hodgkin Disease1CTD_human
TgeneUGT1A1C0022660Kidney Failure, Acute1CTD_human
TgeneUGT1A1C0027947Neutropenia1CTD_human
TgeneUGT1A1C0041755Adverse reaction to drug1CTD_human
TgeneUGT1A1C0152266Mixed Cellularity Hodgkin Lymphoma1CTD_human
TgeneUGT1A1C0152267Hodgkin lymphoma, lymphocyte depletion1CTD_human
TgeneUGT1A1C0162351Contact hypersensitivity1CTD_human
TgeneUGT1A1C0220597Adult Hodgkin Lymphoma1CTD_human
TgeneUGT1A1C0262584Carcinoma, Small Cell1CTD_human
TgeneUGT1A1C0857007Hyperbilirubinemia, Neonatal1CTD_human
TgeneUGT1A1C1266194Lymphocyte Rich Classical Hodgkin Lymphoma1CTD_human
TgeneUGT1A1C1334968Nodular Lymphocyte Predominant Hodgkin Lymphoma1CTD_human
TgeneUGT1A1C1565662Acute Kidney Insufficiency1CTD_human
TgeneUGT1A1C1565885Direct Hyperbilirubinemia, Neonatal1CTD_human
TgeneUGT1A1C1565886Indirect Hyperbilirubinemia, Neonatal1CTD_human
TgeneUGT1A1C2609414Acute kidney injury1CTD_human