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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:DYNLRB1-ITCH (FusionGDB2 ID:24670)

Fusion Gene Summary for DYNLRB1-ITCH

check button Fusion gene summary
Fusion gene informationFusion gene name: DYNLRB1-ITCH
Fusion gene ID: 24670
HgeneTgene
Gene symbol

DYNLRB1

ITCH

Gene ID

83658

83737

Gene namedynein light chain roadblock-type 1itchy E3 ubiquitin protein ligase
SynonymsBITH|BLP|DNCL2A|DNLC2A|ROBLD1ADMFD|AIF4|AIP4|NAPP1
Cytomap

20q11.22

20q11.22

Type of geneprotein-codingprotein-coding
Descriptiondynein light chain roadblock-type 1ROBL/LC7-like 1bithoraxoid-like proteindynein, cytoplasmic, light polypeptide 2Adynein-associated protein Km23roadblock domain-containing protein 1E3 ubiquitin-protein ligase Itchy homologHECT-type E3 ubiquitin transferase Itchy homologNFE2-associated polypeptide 1atrophin-1 interacting protein 4itchy E3 ubiquitin protein ligase homolog
Modification date2020032020200329
UniProtAcc

Q9NP97

Q96J02

Ensembl transtripts involved in fusion geneENST00000480759, ENST00000300469, 
ENST00000357156, ENST00000374846, 
ENST00000417166, 		ENST00000262650, 
ENST00000374864, ENST00000535650, 
ENST00000483727, 
Fusion gene scores* DoF score9 X 6 X 5=27014 X 15 X 7=1470
# samples 1316
** MAII scorelog2(13/270*10)=-1.05444778402238
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/1470*10)=-3.19967234483636
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DYNLRB1 [Title/Abstract] AND ITCH [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDYNLRB1(33122599)-ITCH(33092136), # samples:2
DYNLRB1(33104266)-ITCH(33092136), # samples:2
ITCH(33059320)-DYNLRB1(33114072), # samples:2
Anticipated loss of major functional domain due to fusion event.DYNLRB1-ITCH seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
DYNLRB1-ITCH seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
ITCH-DYNLRB1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ITCH-DYNLRB1 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
TgeneITCH

GO:0006511

ubiquitin-dependent protein catabolic process

15678106

TgeneITCH

GO:0016567

protein ubiquitination

17592138|25631046

TgeneITCH

GO:0035519

protein K29-linked ubiquitination

17028573|18628966

TgeneITCH

GO:0070534

protein K63-linked ubiquitination

18718448|19592251

TgeneITCH

GO:0070936

protein K48-linked ubiquitination

19881509


check buttonFusion gene breakpoints across DYNLRB1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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

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
ChimerDB4OVTCGA-13-0766-01ADYNLRB1chr20

33122599

+ITCHchr20

33092136

+
ChimerDB4OVTCGA-24-2267-01ADYNLRB1chr20

33104266

+ITCHchr20

33092136

+


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Fusion Gene ORF analysis for DYNLRB1-ITCH

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-3CDSENST00000480759ENST00000262650DYNLRB1chr20

33122599

+ITCHchr20

33092136

+
3UTR-3CDSENST00000480759ENST00000262650DYNLRB1chr20

33104266

+ITCHchr20

33092136

+
3UTR-3CDSENST00000480759ENST00000374864DYNLRB1chr20

33122599

+ITCHchr20

33092136

+
3UTR-3CDSENST00000480759ENST00000374864DYNLRB1chr20

33104266

+ITCHchr20

33092136

+
3UTR-3CDSENST00000480759ENST00000535650DYNLRB1chr20

33122599

+ITCHchr20

33092136

+
3UTR-3CDSENST00000480759ENST00000535650DYNLRB1chr20

33104266

+ITCHchr20

33092136

+
3UTR-intronENST00000480759ENST00000483727DYNLRB1chr20

33122599

+ITCHchr20

33092136

+
3UTR-intronENST00000480759ENST00000483727DYNLRB1chr20

33104266

+ITCHchr20

33092136

+
5CDS-intronENST00000300469ENST00000483727DYNLRB1chr20

33104266

+ITCHchr20

33092136

+
5CDS-intronENST00000357156ENST00000483727DYNLRB1chr20

33122599

+ITCHchr20

33092136

+
5CDS-intronENST00000357156ENST00000483727DYNLRB1chr20

33104266

+ITCHchr20

33092136

+
5CDS-intronENST00000374846ENST00000483727DYNLRB1chr20

33122599

+ITCHchr20

33092136

+
5CDS-intronENST00000417166ENST00000483727DYNLRB1chr20

33122599

+ITCHchr20

33092136

+
5CDS-intronENST00000417166ENST00000483727DYNLRB1chr20

33104266

+ITCHchr20

33092136

+
5UTR-3CDSENST00000374846ENST00000262650DYNLRB1chr20

33104266

+ITCHchr20

33092136

+
5UTR-3CDSENST00000374846ENST00000374864DYNLRB1chr20

33104266

+ITCHchr20

33092136

+
5UTR-3CDSENST00000374846ENST00000535650DYNLRB1chr20

33104266

+ITCHchr20

33092136

+
5UTR-intronENST00000374846ENST00000483727DYNLRB1chr20

33104266

+ITCHchr20

33092136

+
Frame-shiftENST00000300469ENST00000262650DYNLRB1chr20

33104266

+ITCHchr20

33092136

+
Frame-shiftENST00000300469ENST00000374864DYNLRB1chr20

33104266

+ITCHchr20

33092136

+
Frame-shiftENST00000300469ENST00000535650DYNLRB1chr20

33104266

+ITCHchr20

33092136

+
Frame-shiftENST00000357156ENST00000262650DYNLRB1chr20

33104266

+ITCHchr20

33092136

+
Frame-shiftENST00000357156ENST00000374864DYNLRB1chr20

33104266

+ITCHchr20

33092136

+
Frame-shiftENST00000357156ENST00000535650DYNLRB1chr20

33104266

+ITCHchr20

33092136

+
Frame-shiftENST00000417166ENST00000262650DYNLRB1chr20

33104266

+ITCHchr20

33092136

+
Frame-shiftENST00000417166ENST00000374864DYNLRB1chr20

33104266

+ITCHchr20

33092136

+
Frame-shiftENST00000417166ENST00000535650DYNLRB1chr20

33104266

+ITCHchr20

33092136

+
In-frameENST00000357156ENST00000262650DYNLRB1chr20

33122599

+ITCHchr20

33092136

+
In-frameENST00000357156ENST00000374864DYNLRB1chr20

33122599

+ITCHchr20

33092136

+
In-frameENST00000357156ENST00000535650DYNLRB1chr20

33122599

+ITCHchr20

33092136

+
In-frameENST00000374846ENST00000262650DYNLRB1chr20

33122599

+ITCHchr20

33092136

+
In-frameENST00000374846ENST00000374864DYNLRB1chr20

33122599

+ITCHchr20

33092136

+
In-frameENST00000374846ENST00000535650DYNLRB1chr20

33122599

+ITCHchr20

33092136

+
In-frameENST00000417166ENST00000262650DYNLRB1chr20

33122599

+ITCHchr20

33092136

+
In-frameENST00000417166ENST00000374864DYNLRB1chr20

33122599

+ITCHchr20

33092136

+
In-frameENST00000417166ENST00000535650DYNLRB1chr20

33122599

+ITCHchr20

33092136

+
intron-3CDSENST00000300469ENST00000262650DYNLRB1chr20

33122599

+ITCHchr20

33092136

+
intron-3CDSENST00000300469ENST00000374864DYNLRB1chr20

33122599

+ITCHchr20

33092136

+
intron-3CDSENST00000300469ENST00000535650DYNLRB1chr20

33122599

+ITCHchr20

33092136

+
intron-intronENST00000300469ENST00000483727DYNLRB1chr20

33122599

+ITCHchr20

33092136

+

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 DYNLRB1-ITCH


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)
DYNLRB1chr2033122599+ITCHchr2033092135+0.0008419260.999158
DYNLRB1chr2033104266+ITCHchr2033092135+0.0004188210.99958116
DYNLRB1chr2033122599+ITCHchr2033092135+0.0008419260.999158
DYNLRB1chr2033104266+ITCHchr2033092135+0.0004188210.99958116

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.
genomic feature

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.
genomic feature of top 1%

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Fusion Protein Features for DYNLRB1-ITCH


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/chr20:33122599/chr20:33092136)
- 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
DYNLRB1

Q9NP97

ITCH

Q96J02

FUNCTION: Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules.FUNCTION: Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:14602072, PubMed:17028573, PubMed:16387660, PubMed:18718448, PubMed:18718449, PubMed:11046148, PubMed:19592251, PubMed:19116316, PubMed:19881509, PubMed:20491914, PubMed:20392206, PubMed:20068034, PubMed:23146885, PubMed:24790097, PubMed:25631046). Catalyzes 'Lys-29'-, 'Lys-48'- and 'Lys-63'-linked ubiquitin conjugation (PubMed:17028573, PubMed:18718448, PubMed:19131965, PubMed:19881509). Involved in the control of inflammatory signaling pathways (PubMed:19131965). Essential component of a ubiquitin-editing protein complex, comprising also TNFAIP3, TAX1BP1 and RNF11, that ensures the transient nature of inflammatory signaling pathways (PubMed:19131965). Promotes the association of the complex after TNF stimulation (PubMed:19131965). Once the complex is formed, TNFAIP3 deubiquitinates 'Lys-63' polyubiquitin chains on RIPK1 and catalyzes the formation of 'Lys-48'-polyubiquitin chains (PubMed:19131965). This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NFKB1 (PubMed:19131965). Ubiquitinates RIPK2 by 'Lys-63'-linked conjugation and influences NOD2-dependent signal transduction pathways (PubMed:19592251). Regulates the transcriptional activity of several transcription factors, and probably plays an important role in the regulation of immune response (PubMed:18718448, PubMed:20491914). Ubiquitinates NFE2 by 'Lys-63' linkages and is implicated in the control of the development of hematopoietic lineages (PubMed:18718448). Mediates JUN ubiquitination and degradation (By similarity). Mediates JUNB ubiquitination and degradation (PubMed:16387660). Critical regulator of type 2 helper T (Th2) cell cytokine production by inducing JUNB ubiquitination and degradation (By similarity). Involved in the negative regulation of MAVS-dependent cellular antiviral responses (PubMed:19881509). Ubiquitinates MAVS through 'Lys-48'-linked conjugation resulting in MAVS proteasomal degradation (PubMed:19881509). Following ligand stimulation, regulates sorting of Wnt receptor FZD4 to the degradative endocytic pathway probably by modulating PI42KA activity (PubMed:23146885). Ubiquitinates PI4K2A and negatively regulates its catalytic activity (PubMed:23146885). Ubiquitinates chemokine receptor CXCR4 and regulates sorting of CXCR4 to the degradative endocytic pathway following ligand stimulation by ubiquitinating endosomal sorting complex required for transport ESCRT-0 components HGS and STAM (PubMed:14602072, PubMed:23146885). Targets DTX1 for lysosomal degradation and controls NOTCH1 degradation, in the absence of ligand, through 'Lys-29'-linked polyubiquitination (PubMed:17028573, PubMed:18628966, PubMed:23886940). Ubiquitinates SNX9 (PubMed:20491914). Ubiquitinates MAP3K7 through 'Lys-48'-linked conjugation (By similarity). Involved in the regulation of apoptosis and reactive oxygen species levels through the ubiquitination and proteasomal degradation of TXNIP (PubMed:20068034). Mediates the antiapoptotic activity of epidermal growth factor through the ubiquitination and proteasomal degradation of p15 BID (PubMed:20392206). Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 (PubMed:25631046). Inhibits the replication of influenza A virus (IAV) via ubiquitination of IAV matrix protein 1 (M1) through 'Lys-48'-linked conjugation resulting in M1 proteasomal degradation (PubMed:30328013). {ECO:0000250|UniProtKB:Q8C863, ECO:0000269|PubMed:14602072, ECO:0000269|PubMed:16387660, ECO:0000269|PubMed:17028573, ECO:0000269|PubMed:18628966, ECO:0000269|PubMed:18718448, ECO:0000269|PubMed:18718449, ECO:0000269|PubMed:19116316, ECO:0000269|PubMed:19131965, ECO:0000269|PubMed:19592251, ECO:0000269|PubMed:19881509, ECO:0000269|PubMed:20068034, ECO:0000269|PubMed:20392206, ECO:0000269|PubMed:20491914, ECO:0000269|PubMed:23146885, ECO:0000269|PubMed:23886940, ECO:0000269|PubMed:24790097, ECO:0000269|PubMed:25631046, ECO:0000269|PubMed:30328013}.

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
TgeneITCHchr20:33122599chr20:33092136ENST000002626502326252_267846904.0Compositional biasNote=Arg/Pro-rich (PRR domain)
TgeneITCHchr20:33122599chr20:33092136ENST000003748642225252_267805863.0Compositional biasNote=Arg/Pro-rich (PRR domain)
TgeneITCHchr20:33122599chr20:33092136ENST000005356502124252_267695753.0Compositional biasNote=Arg/Pro-rich (PRR domain)
TgeneITCHchr20:33122599chr20:33092136ENST0000026265023261_115846904.0DomainC2
TgeneITCHchr20:33122599chr20:33092136ENST000002626502326326_359846904.0DomainWW 1
TgeneITCHchr20:33122599chr20:33092136ENST000002626502326358_391846904.0DomainWW 2
TgeneITCHchr20:33122599chr20:33092136ENST000002626502326438_471846904.0DomainWW 3
TgeneITCHchr20:33122599chr20:33092136ENST000002626502326478_511846904.0DomainWW 4
TgeneITCHchr20:33122599chr20:33092136ENST000002626502326569_903846904.0DomainHECT
TgeneITCHchr20:33122599chr20:33092136ENST0000037486422251_115805863.0DomainC2
TgeneITCHchr20:33122599chr20:33092136ENST000003748642225326_359805863.0DomainWW 1
TgeneITCHchr20:33122599chr20:33092136ENST000003748642225358_391805863.0DomainWW 2
TgeneITCHchr20:33122599chr20:33092136ENST000003748642225438_471805863.0DomainWW 3
TgeneITCHchr20:33122599chr20:33092136ENST000003748642225478_511805863.0DomainWW 4
TgeneITCHchr20:33122599chr20:33092136ENST000003748642225569_903805863.0DomainHECT
TgeneITCHchr20:33122599chr20:33092136ENST0000053565021241_115695753.0DomainC2
TgeneITCHchr20:33122599chr20:33092136ENST000005356502124326_359695753.0DomainWW 1
TgeneITCHchr20:33122599chr20:33092136ENST000005356502124358_391695753.0DomainWW 2
TgeneITCHchr20:33122599chr20:33092136ENST000005356502124438_471695753.0DomainWW 3
TgeneITCHchr20:33122599chr20:33092136ENST000005356502124478_511695753.0DomainWW 4
TgeneITCHchr20:33122599chr20:33092136ENST000005356502124569_903695753.0DomainHECT
TgeneITCHchr20:33122599chr20:33092136ENST000002626502326574_583846904.0RegionMAP kinase docking site
TgeneITCHchr20:33122599chr20:33092136ENST000003748642225574_583805863.0RegionMAP kinase docking site
TgeneITCHchr20:33122599chr20:33092136ENST000005356502124574_583695753.0RegionMAP kinase docking site


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Fusion Gene Sequence for DYNLRB1-ITCH


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 DYNLRB1-ITCH


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 DYNLRB1-ITCH


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 DYNLRB1-ITCH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource