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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:ITSN2-MYO10 (FusionGDB2 ID:40774)

Fusion Gene Summary for ITSN2-MYO10

check button Fusion gene summary
Fusion gene informationFusion gene name: ITSN2-MYO10
Fusion gene ID: 40774
HgeneTgene
Gene symbol

ITSN2

MYO10

Gene ID

50618

4651

Gene nameintersectin 2myosin X
SynonymsPRO2015|SH3D1B|SH3P18|SWA|SWAP-
Cytomap

2p23.3

5p15.1

Type of geneprotein-codingprotein-coding
Descriptionintersectin-2SH3 domain-containing protein 1BSH3P18-like WASP-associated proteinunconventional myosin-Xunconventional myosin-10unconventionnal myosin-X
Modification date2020031320200313
UniProtAcc

Q9NZM3

Q9HD67

Ensembl transtripts involved in fusion geneENST00000355123, ENST00000361999, 
ENST00000406921, ENST00000407704, 
ENST00000507288, ENST00000513610, 
ENST00000274203, ENST00000427430, 
ENST00000505695, ENST00000512061, 
ENST00000515803, 
Fusion gene scores* DoF score13 X 16 X 6=12489 X 11 X 4=396
# samples 1811
** MAII scorelog2(18/1248*10)=-2.79354912253257
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/396*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ITSN2 [Title/Abstract] AND MYO10 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointITSN2(24583173)-MYO10(16818276), # samples:3
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
HgeneITSN2

GO:1903861

positive regulation of dendrite extension

23999003


check buttonFusion gene breakpoints across ITSN2 (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 MYO10 (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
ChimerDB4SKCMTCGA-D3-A3CF-06AITSN2chr2

24583173

-MYO10chr5

16818276

-


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Fusion Gene ORF analysis for ITSN2-MYO10

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
5UTR-3CDSENST00000355123ENST00000507288ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-3CDSENST00000355123ENST00000513610ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-3CDSENST00000361999ENST00000507288ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-3CDSENST00000361999ENST00000513610ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-3CDSENST00000406921ENST00000507288ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-3CDSENST00000406921ENST00000513610ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-3CDSENST00000407704ENST00000507288ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-3CDSENST00000407704ENST00000513610ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-intronENST00000355123ENST00000274203ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-intronENST00000355123ENST00000427430ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-intronENST00000355123ENST00000505695ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-intronENST00000355123ENST00000512061ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-intronENST00000355123ENST00000515803ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-intronENST00000361999ENST00000274203ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-intronENST00000361999ENST00000427430ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-intronENST00000361999ENST00000505695ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-intronENST00000361999ENST00000512061ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-intronENST00000361999ENST00000515803ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-intronENST00000406921ENST00000274203ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-intronENST00000406921ENST00000427430ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-intronENST00000406921ENST00000505695ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-intronENST00000406921ENST00000512061ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-intronENST00000406921ENST00000515803ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-intronENST00000407704ENST00000274203ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-intronENST00000407704ENST00000427430ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-intronENST00000407704ENST00000505695ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-intronENST00000407704ENST00000512061ITSN2chr2

24583173

-MYO10chr5

16818276

-
5UTR-intronENST00000407704ENST00000515803ITSN2chr2

24583173

-MYO10chr5

16818276

-

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 ITSN2-MYO10


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 ITSN2-MYO10


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/:24583173/:16818276)
- 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
ITSN2

Q9NZM3

MYO10

Q9HD67

FUNCTION: Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly machinery. May regulate the formation of clathrin-coated vesicles (CCPs). Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR). Plays a role in dendrite formation by melanocytes (PubMed:23999003). {ECO:0000269|PubMed:19458185, ECO:0000269|PubMed:22648170, ECO:0000269|PubMed:23999003}.FUNCTION: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. MYO10 binds to actin filaments and actin bundles and functions as plus end-directed motor. The tail domain binds to membranous compartments containing phosphatidylinositol 3,4,5-trisphosphate or integrins, and mediates cargo transport along actin filaments. Regulates cell shape, cell spreading and cell adhesion. Stimulates the formation and elongation of filopodia. May play a role in neurite outgrowth and axon guidance. In hippocampal neurons it induces the formation of dendritic filopodia by trafficking the actin-remodeling protein VASP to the tips of filopodia, where it promotes actin elongation. Plays a role in formation of the podosome belt in osteoclasts. {ECO:0000269|PubMed:16894163, ECO:0000269|PubMed:18570893}.; FUNCTION: [Isoform Headless]: Functions as a dominant-negative regulator of isoform 1, suppressing its filopodia-inducing and axon outgrowth-promoting activities. In hippocampal neurons, it increases VASP retention in spine heads to induce spine formation and spine head expansion (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 ITSN2-MYO10


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 ITSN2-MYO10


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 ITSN2-MYO10


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 ITSN2-MYO10


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