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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:ALKBH5-MYO15A (FusionGDB2 ID:HG54890TG51168)

Fusion Gene Summary for ALKBH5-MYO15A

check button Fusion gene summary
Fusion gene informationFusion gene name: ALKBH5-MYO15A
Fusion gene ID: hg54890tg51168
HgeneTgene
Gene symbol

ALKBH5

MYO15A

Gene ID

54890

51168

Gene namealkB homolog 5, RNA demethylasemyosin XVA
SynonymsABH5|OFOXD|OFOXD1DFNB3|MYO15
Cytomap('ALKBH5')('MYO15A')

17p11.2|17p11.2

17p11.2

Type of geneprotein-codingprotein-coding
DescriptionRNA demethylase ALKBH5AlkB family member 5, RNA demethylasealkB, alkylation repair homolog 5alkylated DNA repair protein alkB homolog 5alpha-ketoglutarate-dependent dioxygenase alkB homolog 5oxoglutarate and iron-dependent oxygenase domain containingunconventional myosin-XVmyosin-XVunconventional myosin-15
Modification date2020032220200322
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000399138, ENST00000541285, 
Fusion gene scores* DoF score11 X 9 X 6=5944 X 5 X 3=60
# samples 125
** MAII scorelog2(12/594*10)=-2.30742852519225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALKBH5 [Title/Abstract] AND MYO15A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointALKBH5(18088327)-MYO15A(18070904), # samples:2
Anticipated loss of major functional domain due to fusion event.ALKBH5-MYO15A seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ALKBH5-MYO15A seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ALKBH5-MYO15A seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ALKBH5-MYO15A seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgeneALKBH5

GO:0001666

response to hypoxia

21264265

HgeneALKBH5

GO:0035553

oxidative single-stranded RNA demethylation

23177736|24616105


check buttonFusion gene breakpoints across ALKBH5 (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 MYO15A (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
* 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
ChimerDB4BRCATCGA-E2-A108-01AALKBH5chr17

18088327

+MYO15Achr17

18070904

+
ChimerDB4BRCATCGA-E2-A108-01AALKBH5chr17

18088327

+MYO15Achr17

18074952

+
ChimerDB4UCECTCGA-A5-A0GR-01AALKBH5chr17

18098349

+MYO15Achr17

18074952

+


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Fusion Gene ORF analysis for ALKBH5-MYO15A

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
5CDS-intronENST00000399138ENST00000412324ALKBH5chr17

18088327

+MYO15Achr17

18070904

+
5CDS-intronENST00000399138ENST00000412324ALKBH5chr17

18088327

+MYO15Achr17

18074952

+
5CDS-intronENST00000399138ENST00000412324ALKBH5chr17

18098349

+MYO15Achr17

18074952

+
5CDS-intronENST00000399138ENST00000418233ALKBH5chr17

18088327

+MYO15Achr17

18070904

+
5CDS-intronENST00000399138ENST00000418233ALKBH5chr17

18088327

+MYO15Achr17

18074952

+
5CDS-intronENST00000399138ENST00000418233ALKBH5chr17

18098349

+MYO15Achr17

18074952

+
5CDS-intronENST00000399138ENST00000451725ALKBH5chr17

18088327

+MYO15Achr17

18070904

+
5CDS-intronENST00000399138ENST00000451725ALKBH5chr17

18088327

+MYO15Achr17

18074952

+
5CDS-intronENST00000399138ENST00000451725ALKBH5chr17

18098349

+MYO15Achr17

18074952

+
5CDS-intronENST00000399138ENST00000585180ALKBH5chr17

18088327

+MYO15Achr17

18070904

+
5CDS-intronENST00000399138ENST00000585180ALKBH5chr17

18088327

+MYO15Achr17

18074952

+
5CDS-intronENST00000399138ENST00000585180ALKBH5chr17

18098349

+MYO15Achr17

18074952

+
5UTR-3CDSENST00000541285ENST00000205890ALKBH5chr17

18098349

+MYO15Achr17

18074952

+
5UTR-intronENST00000541285ENST00000412324ALKBH5chr17

18098349

+MYO15Achr17

18074952

+
5UTR-intronENST00000541285ENST00000418233ALKBH5chr17

18098349

+MYO15Achr17

18074952

+
5UTR-intronENST00000541285ENST00000451725ALKBH5chr17

18098349

+MYO15Achr17

18074952

+
5UTR-intronENST00000541285ENST00000585180ALKBH5chr17

18098349

+MYO15Achr17

18074952

+
Frame-shiftENST00000399138ENST00000205890ALKBH5chr17

18088327

+MYO15Achr17

18070904

+
In-frameENST00000399138ENST00000205890ALKBH5chr17

18088327

+MYO15Achr17

18074952

+
In-frameENST00000399138ENST00000205890ALKBH5chr17

18098349

+MYO15Achr17

18074952

+
intron-3CDSENST00000541285ENST00000205890ALKBH5chr17

18088327

+MYO15Achr17

18070904

+
intron-3CDSENST00000541285ENST00000205890ALKBH5chr17

18088327

+MYO15Achr17

18074952

+
intron-intronENST00000541285ENST00000412324ALKBH5chr17

18088327

+MYO15Achr17

18070904

+
intron-intronENST00000541285ENST00000412324ALKBH5chr17

18088327

+MYO15Achr17

18074952

+
intron-intronENST00000541285ENST00000418233ALKBH5chr17

18088327

+MYO15Achr17

18070904

+
intron-intronENST00000541285ENST00000418233ALKBH5chr17

18088327

+MYO15Achr17

18074952

+
intron-intronENST00000541285ENST00000451725ALKBH5chr17

18088327

+MYO15Achr17

18070904

+
intron-intronENST00000541285ENST00000451725ALKBH5chr17

18088327

+MYO15Achr17

18074952

+
intron-intronENST00000541285ENST00000585180ALKBH5chr17

18088327

+MYO15Achr17

18070904

+
intron-intronENST00000541285ENST00000585180ALKBH5chr17

18088327

+MYO15Achr17

18074952

+

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 ALKBH5-MYO15A


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)
ALKBH5chr1718088327+MYO15Achr1718070903+1.47E-050.99998534
ALKBH5chr1718088327+MYO15Achr1718074951+1.41E-050.99998593
ALKBH5chr1718098349+MYO15Achr1718074951+1.33E-060.9999987
ALKBH5chr1718088327+MYO15Achr1718070903+1.47E-050.99998534
ALKBH5chr1718088327+MYO15Achr1718074951+1.41E-050.99998593
ALKBH5chr1718098349+MYO15Achr1718074951+1.33E-060.9999987

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 ALKBH5-MYO15A


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/chr17:18088327/chr17:18070904)
- 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
..
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}.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
HgeneALKBH5chr17:18088327chr17:18074952ENST00000399138+1467_116256395.0Coiled coilOntology_term=ECO:0000255
HgeneALKBH5chr17:18098349chr17:18074952ENST00000399138+2467_116283395.0Coiled coilOntology_term=ECO:0000255
HgeneALKBH5chr17:18088327chr17:18074952ENST00000399138+1430_48256395.0Compositional biasNote=Ala-rich
HgeneALKBH5chr17:18098349chr17:18074952ENST00000399138+2430_48283395.0Compositional biasNote=Ala-rich
HgeneALKBH5chr17:18088327chr17:18074952ENST00000399138+14193_195256395.0RegionAlpha-ketoglutarate binding
HgeneALKBH5chr17:18098349chr17:18074952ENST00000399138+24193_195283395.0RegionAlpha-ketoglutarate binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneMYO15Achr17:18088327chr17:18074952ENST0000020589061661323_135033603531.0Coiled coilOntology_term=ECO:0000255
TgeneMYO15Achr17:18098349chr17:18074952ENST0000020589061661323_135033603531.0Coiled coilOntology_term=ECO:0000255
TgeneMYO15Achr17:18088327chr17:18074952ENST0000020589061661222_189933603531.0DomainMyosin motor
TgeneMYO15Achr17:18088327chr17:18074952ENST0000020589061661902_192433603531.0DomainIQ 1
TgeneMYO15Achr17:18088327chr17:18074952ENST0000020589061661925_195433603531.0DomainIQ 2
TgeneMYO15Achr17:18088327chr17:18074952ENST0000020589061661955_197633603531.0DomainIQ 3
TgeneMYO15Achr17:18088327chr17:18074952ENST0000020589061662065_221733603531.0DomainMyTH4 1
TgeneMYO15Achr17:18088327chr17:18074952ENST0000020589061662867_295333603531.0DomainSH3
TgeneMYO15Achr17:18088327chr17:18074952ENST0000020589061663050_320433603531.0DomainMyTH4 2
TgeneMYO15Achr17:18088327chr17:18074952ENST0000020589061663209_353033603531.0DomainFERM
TgeneMYO15Achr17:18098349chr17:18074952ENST0000020589061661222_189933603531.0DomainMyosin motor
TgeneMYO15Achr17:18098349chr17:18074952ENST0000020589061661902_192433603531.0DomainIQ 1
TgeneMYO15Achr17:18098349chr17:18074952ENST0000020589061661925_195433603531.0DomainIQ 2
TgeneMYO15Achr17:18098349chr17:18074952ENST0000020589061661955_197633603531.0DomainIQ 3
TgeneMYO15Achr17:18098349chr17:18074952ENST0000020589061662065_221733603531.0DomainMyTH4 1
TgeneMYO15Achr17:18098349chr17:18074952ENST0000020589061662867_295333603531.0DomainSH3
TgeneMYO15Achr17:18098349chr17:18074952ENST0000020589061663050_320433603531.0DomainMyTH4 2
TgeneMYO15Achr17:18098349chr17:18074952ENST0000020589061663209_353033603531.0DomainFERM
TgeneMYO15Achr17:18088327chr17:18074952ENST0000020589061661315_132233603531.0Nucleotide bindingATP
TgeneMYO15Achr17:18098349chr17:18074952ENST0000020589061661315_132233603531.0Nucleotide bindingATP
TgeneMYO15Achr17:18088327chr17:18074952ENST0000020589061661792_179933603531.0RegionActin-binding
TgeneMYO15Achr17:18088327chr17:18074952ENST0000020589061661888_202933603531.0RegionNote=Neck or regulatory domain
TgeneMYO15Achr17:18088327chr17:18074952ENST0000020589061662030_353033603531.0RegionNote=Tail
TgeneMYO15Achr17:18098349chr17:18074952ENST0000020589061661792_179933603531.0RegionActin-binding
TgeneMYO15Achr17:18098349chr17:18074952ENST0000020589061661888_202933603531.0RegionNote=Neck or regulatory domain
TgeneMYO15Achr17:18098349chr17:18074952ENST0000020589061662030_353033603531.0RegionNote=Tail


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Fusion Gene Sequence for ALKBH5-MYO15A


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 ALKBH5-MYO15A


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 ALKBH5-MYO15A


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 ALKBH5-MYO15A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC3711374Nonsyndromic Deafness8CLINGEN
TgeneC1838263Deafness, Autosomal Recessive 33CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1384666hearing impairment1GENOMICS_ENGLAND