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in Kim Lab

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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:DYM-MYO5B (FusionGDB2 ID:HG54808TG4645)

Fusion Gene Summary for DYM-MYO5B

check button Fusion gene summary
Fusion gene informationFusion gene name: DYM-MYO5B
Fusion gene ID: hg54808tg4645
HgeneTgene
Gene symbol

DYM

MYO5B

Gene ID

54808

4645

Gene namedymeclinmyosin VB
SynonymsDMC|SMC-
Cytomap('DYM')('MYO5B')

18q21.1

18q21.1

Type of geneprotein-codingprotein-coding
Descriptiondymeclindyggve-Melchior-Clausen syndrome proteinunconventional myosin-VbMYO5B variant proteinmyosin-Vb
Modification date2020031320200313
UniProtAcc

Q7RTS9

.
Ensembl transtripts involved in fusion geneENST00000269445, ENST00000442713, 
ENST00000578396, ENST00000584977, 
ENST00000269445, ENST00000442713, 
ENST00000578396, ENST00000584977, 
Fusion gene scores* DoF score24 X 18 X 10=432011 X 10 X 7=770
# samples 2614
** MAII scorelog2(26/4320*10)=-4.05444778402238
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/770*10)=-2.4594316186373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DYM [Title/Abstract] AND MYO5B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDYM(46904937)-MYO5B(47376030), # samples:2
DYM(46986768)-MYO5B(47581748), # samples:2
Anticipated loss of major functional domain due to fusion event.DYM-MYO5B 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.
DYM-MYO5B 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.
DYM-MYO5B 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.
DYM-MYO5B 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.
MYO5B-DYM 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.
MYO5B-DYM 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

check buttonFusion gene breakpoints across DYM (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 MYO5B (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-AN-A0FJ-01ADYMchr18

46904937

-MYO5Bchr18

47376030

-
ChimerDB4STADTCGA-HU-A4GH-01ADYMchr18

46986768

-MYO5Bchr18

47581748

-


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Fusion Gene ORF analysis for DYM-MYO5B

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-5UTRENST00000269445ENST00000592688DYMchr18

46904937

-MYO5Bchr18

47376030

-
5CDS-intronENST00000269445ENST00000587895DYMchr18

46904937

-MYO5Bchr18

47376030

-
5UTR-3CDSENST00000269445ENST00000285039DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-3CDSENST00000442713ENST00000285039DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-3CDSENST00000578396ENST00000285039DYMchr18

46904937

-MYO5Bchr18

47376030

-
5UTR-3CDSENST00000578396ENST00000324581DYMchr18

46904937

-MYO5Bchr18

47376030

-
5UTR-3CDSENST00000584977ENST00000285039DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-5UTRENST00000578396ENST00000592688DYMchr18

46904937

-MYO5Bchr18

47376030

-
5UTR-intronENST00000269445ENST00000324581DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-intronENST00000269445ENST00000587895DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-intronENST00000269445ENST00000592688DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-intronENST00000442713ENST00000324581DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-intronENST00000442713ENST00000587895DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-intronENST00000442713ENST00000592688DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-intronENST00000578396ENST00000587895DYMchr18

46904937

-MYO5Bchr18

47376030

-
5UTR-intronENST00000584977ENST00000324581DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-intronENST00000584977ENST00000587895DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-intronENST00000584977ENST00000592688DYMchr18

46986768

-MYO5Bchr18

47581748

-
In-frameENST00000269445ENST00000285039DYMchr18

46904937

-MYO5Bchr18

47376030

-
In-frameENST00000269445ENST00000324581DYMchr18

46904937

-MYO5Bchr18

47376030

-
intron-3CDSENST00000442713ENST00000285039DYMchr18

46904937

-MYO5Bchr18

47376030

-
intron-3CDSENST00000442713ENST00000324581DYMchr18

46904937

-MYO5Bchr18

47376030

-
intron-3CDSENST00000578396ENST00000285039DYMchr18

46986768

-MYO5Bchr18

47581748

-
intron-3CDSENST00000584977ENST00000285039DYMchr18

46904937

-MYO5Bchr18

47376030

-
intron-3CDSENST00000584977ENST00000324581DYMchr18

46904937

-MYO5Bchr18

47376030

-
intron-5UTRENST00000442713ENST00000592688DYMchr18

46904937

-MYO5Bchr18

47376030

-
intron-5UTRENST00000584977ENST00000592688DYMchr18

46904937

-MYO5Bchr18

47376030

-
intron-intronENST00000442713ENST00000587895DYMchr18

46904937

-MYO5Bchr18

47376030

-
intron-intronENST00000578396ENST00000324581DYMchr18

46986768

-MYO5Bchr18

47581748

-
intron-intronENST00000578396ENST00000587895DYMchr18

46986768

-MYO5Bchr18

47581748

-
intron-intronENST00000578396ENST00000592688DYMchr18

46986768

-MYO5Bchr18

47581748

-
intron-intronENST00000584977ENST00000587895DYMchr18

46904937

-MYO5Bchr18

47376030

-

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)
ENST00000269445DYMchr1846904937-ENST00000285039MYO5Bchr1847376030-58638798522204450
ENST00000269445DYMchr1846904937-ENST00000324581MYO5Bchr1847376030-24168798522204450

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
ENST00000269445ENST00000285039DYMchr1846904937-MYO5Bchr1847376030-0.0003184120.9996816
ENST00000269445ENST00000324581DYMchr1846904937-MYO5Bchr1847376030-0.0031564470.9968436

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Fusion Genomic Features for DYM-MYO5B


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.
genomic feature

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Fusion Protein Features for DYM-MYO5B


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/chr18:46904937/chr18:47376030)
- 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
DYM

Q7RTS9

.
FUNCTION: Necessary for correct organization of Golgi apparatus. Involved in bone development. {ECO:0000269|PubMed:21280149}.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
TgeneMYO5Bchr18:46904937chr18:47376030ENST0000028503930401526_180314071849.0DomainDilute

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneMYO5Bchr18:46904937chr18:47376030ENST0000028503930401341_147114071849.0Coiled coilOntology_term=ECO:0000255
TgeneMYO5Bchr18:46904937chr18:47376030ENST000002850393040899_126614071849.0Coiled coilOntology_term=ECO:0000255
TgeneMYO5Bchr18:46904937chr18:47376030ENST000002850393040801_91614071849.0Compositional biasNote=Arg-rich
TgeneMYO5Bchr18:46904937chr18:47376030ENST00000285039304069_76114071849.0DomainMyosin motor
TgeneMYO5Bchr18:46904937chr18:47376030ENST000002850393040769_79814071849.0DomainIQ 1
TgeneMYO5Bchr18:46904937chr18:47376030ENST000002850393040792_82114071849.0DomainIQ 2
TgeneMYO5Bchr18:46904937chr18:47376030ENST000002850393040817_84814071849.0DomainIQ 3
TgeneMYO5Bchr18:46904937chr18:47376030ENST000002850393040840_86914071849.0DomainIQ 4
TgeneMYO5Bchr18:46904937chr18:47376030ENST000002850393040865_89614071849.0DomainIQ 5
TgeneMYO5Bchr18:46904937chr18:47376030ENST000002850393040888_91714071849.0DomainIQ 6
TgeneMYO5Bchr18:46904937chr18:47376030ENST0000028503930408_6014071849.0DomainMyosin N-terminal SH3-like
TgeneMYO5Bchr18:46904937chr18:47376030ENST000002850393040163_17014071849.0Nucleotide bindingATP
TgeneMYO5Bchr18:46904937chr18:47376030ENST000002850393040640_66214071849.0RegionActin-binding


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Fusion Gene Sequence for DYM-MYO5B


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.
>24574_24574_1_DYM-MYO5B_DYM_chr18_46904937_ENST00000269445_MYO5B_chr18_47376030_ENST00000285039_length(transcript)=5863nt_BP=879nt
GCTTTGCGGTAGCCCAGGAGGTACTAGGAGGGCGGAGGCACGAATAACACCCAAAGGACTACAGTTTCCAGAAGCCCGCGCGCGCCGCGT
GCCACGTGACCACCTGGCTGGCGCGCGCGCCTGGGGGTCTGGTCCCTAGCCGCGTTCTCGGTCGCTTCCCTCTTCTCTCGCCGCCTCCTG
GCCTCCGCACCGACGCGGCCCGGGCTGGAGCCGAGCCGGGGCCGAGCTGCAGGCCGGACCGGAGCCGGATCTGTACCCGCTGAGACGTGG
AAACATGGAGGCCTGAGCCGGTGTGCGCCACCTGGGCTGCGGCGGCGACAGCGACTTCTCCTGACCCCTCTGCCACCCTCCCATCCGTCC
GCGGGTCCGTGGAGCTGGAGCAGATCCCCCAGCCGGCTGAGACAGGTTGTCTTTTGGAAATGCAGGTTTAAGGACAAATTATCTGCTTAA
GCTAGAAGATGGGATCGAATAGCAGCAGAATCGGCGATCTTCCTAAAAATGAGTACTTGAAAAAGTTATCAGGCACGGAATCTATCTCTG
AGAATGACCCGTTCTGGAATCAGCTTCTCTCATTTTCTTTCCCTGCACCAACTAGCAGTAGTGAGTTGAAACTCTTGGAGGAAGCAACCA
TTTCAGTCTGCAGGTCATTAGTTGAAAACAATCCTCGAACAGGAAATCTTGGTGCACTAATTAAGGTCTTCCTTTCTAGAACCAAAGAAC
TAAAACTTTCAGCAGAATGTCAGAACCACATCTTCATTTGGCAGACACACAATGCTTTGTTTATTATTTGCTGTTTGCTGAAAGTGTTCA
TCTGTCAGATGTCAGAGGAGGAATTACAACTTCATTTTACTTATGAAGAAAAATCTCCTGGCAATTACAGACCTTAAAGAACTGGTAGAA
AAGCTGGAAAAGAATGAGAGGAAGCTCAAAAAGCAACTGAAGATTTACATGAAGAAAGCCCAGGACCTAGAAGCTGCCCAGGCATTGGCC
CAGAGTGAGAGGAAGCGCCATGAGCTCAACAGGCAGGTCACGGTCCAGCGGAAAGAGAAGGATTTCCAGGGCATGCTGGAGTACCACAAA
GAGGACGAGGCCCTCCTCATCCGGAACCTGGTGACAGACTTGAAGCCCCAGATGCTGTCGGGCACAGTGCCCTGTCTCCCCGCCTACATC
CTCTACATGTGCATCCGGCACGCGGACTACACCAACGACGATCTCAAGGTGCACTCCCTGCTGACCTCCACCATCAACGGCATTAAGAAA
GTCCTGAAAAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGC
GGGGATGAGGGCTTCATGACTCAGAACACTGCAAAGCAGAATGAACACTGTCTTAAGAATTTTGACCTCACCGAATACCGTCAGGTGCTG
AGTGACCTTTCCATTCAGATCTACCAGCAGCTCATTAAAATTGCCGAGGGCGTGTTACAGCCGATGATAGTTTCTGCCATGTTGGAAAAT
GAGAGCATTCAGGGTCTATCTGGTGTGAAGCCCACCGGCTACCGGAAGCGCTCCTCCAGCATGGCAGATGGGGATAACTCATACTGCCTG
GAAGCTATCATCCGCCAGATGAATGCCTTTCATACAGTCATGTGTGACCAGGGCTTGGACCCTGAGATCATCCTGCAGGTATTCAAACAG
CTCTTCTACATGATCAACGCAGTGACTCTTAACAACCTGCTCTTGCGGAAGGACGTCTGCTCTTGGAGCACAGGCATGCAACTCAGGTAC
AATATAAGTCAGCTTGAGGAGTGGCTTCGGGGAAGAAACCTTCACCAGAGTGGAGCAGTTCAGACCATGGAACCTCTGATCCAAGCAGCC
CAGCTCCTGCAATTAAAGAAGAAAACCCAGGAGGACGCAGAGGCTATCTGCTCCCTGTGTACCTCCCTCAGCACCCAGCAGATTGTCAAA
ATTTTAAACCTTTATACTCCCCTGAATGAATTTGAAGAACGGGTAACAGTGGCCTTTATACGAACAATCCAGGCACAACTACAAGAGCGG
AATGACCCTCAGCAACTGCTATTAGATGCCAAGCACATGTTTCCTGTTTTGTTTCCATTTAATCCATCTTCTCTAACCATGGACTCAATC
CACATCCCAGCGTGTCTCAATCTGGAATTCCTCAATGAAGTCTGAAGATGCATGTTTCCAGCATTAGTTTGATTCCCAATGTGAGCAAGA
AGGAAGTATATACAGTAAAGTAAATTCAAGGATCTGTTAAATCTGGTAAAAGTAGATCAAATCAGAGATTGACAGCCTGTGGAGGGTGCT
GAACTATACAGAATTAGACACAACTATGTCATTATTTTTTGTACCTACTGCTCAGAATAAAAACACTTGAAATATGGAAGATTTTAAGTT
TGATTTCAGTCCAACACATATACATAATTTATAGACACCAAGCAGTCCCCATAGACATATAAAAGGTGTCAATTCTATAAAACGAAGCTG
CCTAGTTTTGATCTTTGCATAGAACTAGAGAATGTCCAAATTAAAATACCAAATATATATAAGTCACATAAATTGCCTTCAAAGGGCTTT
AACAAATAATGGTACTAATAACCATGATAATGGCATATACTGACATTTCCCAAAGTTTGCAAACCATAGGTGTGGTTGAGTTTGTGGTGA
GATGTTTTAAGAACAAAAATATGGGGATGAGACTTCTGAGAAATATTCCCAAAATATTTTTTAATGGCTGATTATACACAGACAGTGGTG
TAACTGACCTCCAGACCAGACATTTTGAGTACTGGTTTCTGAAGCAAAATTAGAAGTGCCAGTCCTCAGTGTGCTCAAACGCTTTTGTGT
TATCTTGATTTAATGGAAGAGATTATTAAAATGCTGCTATCCCAAACTCCAAGTGAGAAAGATGGAAAAATATTTTGTTTCTGATGCTAG
TCCATACACTTTCCAAGTCCCACAAAACTTTCACAAAAATGTATATAAGCTAAATATTAGAAACGGATAACAAACTTGTTTTATTTATAG
ATGTAAAAACCAAACAAGTCAATATGAAAGCTTTTAATCTCTTAATACCATTAAGCTTCCAGTAAGAGCATCACATAATGCTCTACTGTT
CCAGAAACCAAATAGTAAAACAAACTAAAGTTCGCACATCAGATCATCTGAAAAACCTTCAAAAATAATCAGTTCAGGGATATTATACAA
AAGTTTGGGTTTTTTTTTTTTAAGAGAATAAAATGGCTTAGGTCAACTTTCCCTTTTCAGGTTATTTTCAACGTTTTTCAAATTTAGCAC
ACAAAAAATTGTAAATATCTCTCCCACAAAATAAGGATTTTAAAAAAGTAATTCAGTAATATAACAGGCTTAGATGTTTGCTGCTCTTAG
AATTTTTTTTAACTTGTTTTTGGTTTCTTCAAAAGCAAGCATTCAATTGGAAACCCATATTCTTTCCACACTTTTTTTTACTGTCTTTTC
TGTATTTCTTGATAGCAGTATGCTGTTCCCATAAGAAAAAAATGGTATTTGCAAATCATGGAAGAACAGCCTCTGTATTACATTGAGAAA
ATAAGATTTATCCATGAATTGGAAGTAGAACAGCCTGCCTTCACCCTCTTTTACTCAACCACCCAACTTAAAAGGCTCTTGGAAACACAG
CACACTCCACGCTACCTTCTGCACTGTGCCCTTAGAGCACAGCTTCCTCAGTTGTTCTCTGCATCTCCTGGGGCTTAGGCCAGTCTTAGC
CTGGGTTAAGGCTGCTGACATTGTGTTCCAATCAGTTGTCATGGGCATTATCCCCTCTACATCCACATTAAACATGCCGGCTTCTCTTGG
GCATCGGCAGAGCTGTGCCTTTTTCTTTCAGTTACAGTTACATAATCACTGACGTCCATGACACTTACCCATGGATCCATGTGCTGACTT
CATTTAGAAGGCCAATCTAAAACAACTGGGTTTGTGGCTACCTCTTTAAAGTTGTTTGTGAAGGATAATTTGTTTTTTAATGCACTTTAG
TTTGAAAGTGAGTCTCTTATGTAAGGACCATCCTTAAAAGACCAAAAATGCCTTGTTAGAGTGTTAAGGAGTTTTGACATGCAGTGGTTC
CACAAACACAGTGGCTTACTATCCTTATACACTGTCTTATACCATCATTCTCTCCATCTCTCTTGGTCACTACTCTCTGCTGTCACTGGT
TAATCACTAGGTGCCAAGAGCTTACTGAATAAAAGCTTGGCAATTAGAATAAATGGGGAGGGAAGGACCTTATGAATAGTCCATTTAGCC
TAAGAAATGGCAGATTTAGTTCTTCTCTTCCAAAAGATAAAGGTATATCCTGGAATTGTACTTAAAACTTACAGATGACTAACAAATATA
TACTTTATATGTAGTTAATATTTAGATCTGTCTTATTTAATACTTGGAGGCTAGAAGAAGCATCTTTAGGGGAACTATATAATCTTTTGT
TAGCATTTTCTCTGCATTTTAAAAAATCATTTCAATTCAAACATTTATCAGTGTCATGAAATCAGTAATGACTCTTTAACAATTCAGGTT
TGAACTCTGCATTAGATGTCTCTTTAATTTTTTAATATTTAAAATTTAGTTGACATTTTTTTCACCAGGTGCCTTTAGCGGTTACTAAGA
TAACTGACATCAGTTGTTTCTCTGAAATAAGTGTTGCTGTGGGAATAATTTTAATGTTCAAGGTGATATCATGGGGGAGTTTTGTCTTTT
AAAACATTAGAAGCATTTTAAATATTAAGAATCAAATATTTATAGATCAAAACTTGTGTTTTAAGTATTATACGGGACCTGTTTACTTAT
AGTAAATGTGAATGTACACATGAGTTGTTGCTGAAGCTGACAAGCATATTACATACATGCATTTTCCCTGTGCCCTCATAGTTGCAGTTA
GAGTTCCAGTACCTGTAGGCTCACCTGGGAGGCAGATTAGACCCAAAGGTAGATGTTTTTCCCCTTTCCATGAAGCATGTCAGTGGGAGT
TGCTTCCTTTGATTTCCCTAGTACTAAATTTTAAGGCTTTTGTAAAAACAAAACAAAACTAGGAGCTTGGAACAGTTAAAAATCAACACT
GCTACCATCAATTCATCAAATATTTACTTAGAGCTTTCATACATTAAGATTCCAGTAACCAATAAATTAGAATTCATTTCTTCTGCATAA
AGTAAATTTTCATACACTTGACCTACTAAGACAGCAAGGGTGTCCTAAATTGAGGCATTTGTATAATGCCTGCATAACTAAATGGTCACT
AAAATGGGACAGCATGGGGCAAGACCTTGTAGTTCTTCACAGAATATTTGTGGTCAGTTTCTCCAATTAATTTGCTGCATGAGCCAAATA
ACCATAATTCACTTTTTATACCCACTGGTGCCATAATTAGAGAATTAGAGGGTGTAGACAGAGGTTAATGCCAATGAGAAACACAGGACA
GGGTTTTTTTTATTATAAAGGTCATTAGATACAAAAGATTGTTTTTCAAAAAATTTCTAATTCTAACAAAGGGGATCAATCAGAAATGAA
ACTAAGCTACTTTCTAAAGTGACACTGTATCAGAATAATCCAGATTTGAATATAACATTTTGCCACCAACTGACATTTAGATGAAGGACT
GCCTCTCTGAAAGAGTTCAGATCATATTCAGGGGTGAATCCAACACCATGGAAGAAAGACTACTGATGAAAATATTTTCCCACTTTGCAC
AAATCTGTAAACTACACCTTTGTTTATAGAAAAATGCTTGTAATAGTCACTGTAATATTTAGCTGTGGATAAAAATTTGTGGAAATAAAT

>24574_24574_1_DYM-MYO5B_DYM_chr18_46904937_ENST00000269445_MYO5B_chr18_47376030_ENST00000285039_length(amino acids)=450AA_BP=9
MKKNLLAITDLKELVEKLEKNERKLKKQLKIYMKKAQDLEAAQALAQSERKRHELNRQVTVQRKEKDFQGMLEYHKEDEALLIRNLVTDL
KPQMLSGTVPCLPAYILYMCIRHADYTNDDLKVHSLLTSTINGIKKVLKKHNDDFEMTSFWLSNTCRLLHCLKQYSGDEGFMTQNTAKQN
EHCLKNFDLTEYRQVLSDLSIQIYQQLIKIAEGVLQPMIVSAMLENESIQGLSGVKPTGYRKRSSSMADGDNSYCLEAIIRQMNAFHTVM
CDQGLDPEIILQVFKQLFYMINAVTLNNLLLRKDVCSWSTGMQLRYNISQLEEWLRGRNLHQSGAVQTMEPLIQAAQLLQLKKKTQEDAE
AICSLCTSLSTQQIVKILNLYTPLNEFEERVTVAFIRTIQAQLQERNDPQQLLLDAKHMFPVLFPFNPSSLTMDSIHIPACLNLEFLNEV

--------------------------------------------------------------
>24574_24574_2_DYM-MYO5B_DYM_chr18_46904937_ENST00000269445_MYO5B_chr18_47376030_ENST00000324581_length(transcript)=2416nt_BP=879nt
GCTTTGCGGTAGCCCAGGAGGTACTAGGAGGGCGGAGGCACGAATAACACCCAAAGGACTACAGTTTCCAGAAGCCCGCGCGCGCCGCGT
GCCACGTGACCACCTGGCTGGCGCGCGCGCCTGGGGGTCTGGTCCCTAGCCGCGTTCTCGGTCGCTTCCCTCTTCTCTCGCCGCCTCCTG
GCCTCCGCACCGACGCGGCCCGGGCTGGAGCCGAGCCGGGGCCGAGCTGCAGGCCGGACCGGAGCCGGATCTGTACCCGCTGAGACGTGG
AAACATGGAGGCCTGAGCCGGTGTGCGCCACCTGGGCTGCGGCGGCGACAGCGACTTCTCCTGACCCCTCTGCCACCCTCCCATCCGTCC
GCGGGTCCGTGGAGCTGGAGCAGATCCCCCAGCCGGCTGAGACAGGTTGTCTTTTGGAAATGCAGGTTTAAGGACAAATTATCTGCTTAA
GCTAGAAGATGGGATCGAATAGCAGCAGAATCGGCGATCTTCCTAAAAATGAGTACTTGAAAAAGTTATCAGGCACGGAATCTATCTCTG
AGAATGACCCGTTCTGGAATCAGCTTCTCTCATTTTCTTTCCCTGCACCAACTAGCAGTAGTGAGTTGAAACTCTTGGAGGAAGCAACCA
TTTCAGTCTGCAGGTCATTAGTTGAAAACAATCCTCGAACAGGAAATCTTGGTGCACTAATTAAGGTCTTCCTTTCTAGAACCAAAGAAC
TAAAACTTTCAGCAGAATGTCAGAACCACATCTTCATTTGGCAGACACACAATGCTTTGTTTATTATTTGCTGTTTGCTGAAAGTGTTCA
TCTGTCAGATGTCAGAGGAGGAATTACAACTTCATTTTACTTATGAAGAAAAATCTCCTGGCAATTACAGACCTTAAAGAACTGGTAGAA
AAGCTGGAAAAGAATGAGAGGAAGCTCAAAAAGCAACTGAAGATTTACATGAAGAAAGCCCAGGACCTAGAAGCTGCCCAGGCATTGGCC
CAGAGTGAGAGGAAGCGCCATGAGCTCAACAGGCAGGTCACGGTCCAGCGGAAAGAGAAGGATTTCCAGGGCATGCTGGAGTACCACAAA
GAGGACGAGGCCCTCCTCATCCGGAACCTGGTGACAGACTTGAAGCCCCAGATGCTGTCGGGCACAGTGCCCTGTCTCCCCGCCTACATC
CTCTACATGTGCATCCGGCACGCGGACTACACCAACGACGATCTCAAGGTGCACTCCCTGCTGACCTCCACCATCAACGGCATTAAGAAA
GTCCTGAAAAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGC
GGGGATGAGGGCTTCATGACTCAGAACACTGCAAAGCAGAATGAACACTGTCTTAAGAATTTTGACCTCACCGAATACCGTCAGGTGCTG
AGTGACCTTTCCATTCAGATCTACCAGCAGCTCATTAAAATTGCCGAGGGCGTGTTACAGCCGATGATAGTTTCTGCCATGTTGGAAAAT
GAGAGCATTCAGGGTCTATCTGGTGTGAAGCCCACCGGCTACCGGAAGCGCTCCTCCAGCATGGCAGATGGGGATAACTCATACTGCCTG
GAAGCTATCATCCGCCAGATGAATGCCTTTCATACAGTCATGTGTGACCAGGGCTTGGACCCTGAGATCATCCTGCAGGTATTCAAACAG
CTCTTCTACATGATCAACGCAGTGACTCTTAACAACCTGCTCTTGCGGAAGGACGTCTGCTCTTGGAGCACAGGCATGCAACTCAGGTAC
AATATAAGTCAGCTTGAGGAGTGGCTTCGGGGAAGAAACCTTCACCAGAGTGGAGCAGTTCAGACCATGGAACCTCTGATCCAAGCAGCC
CAGCTCCTGCAATTAAAGAAGAAAACCCAGGAGGACGCAGAGGCTATCTGCTCCCTGTGTACCTCCCTCAGCACCCAGCAGATTGTCAAA
ATTTTAAACCTTTATACTCCCCTGAATGAATTTGAAGAACGGGTAACAGTGGCCTTTATACGAACAATCCAGGCACAACTACAAGAGCGG
AATGACCCTCAGCAACTGCTATTAGATGCCAAGCACATGTTTCCTGTTTTGTTTCCATTTAATCCATCTTCTCTAACCATGGACTCAATC
CACATCCCAGCGTGTCTCAATCTGGAATTCCTCAATGAAGTCTGAAGATGCATGTTTCCAGCATTAGTTTGATTCCCAATGTGAGCAAGA
AGGAAGTATATACAGTAAAGTAAATTCAAGGATCTGTTAAATCTGGTAAAAGTAGATCAAATCAGAGATTGACAGCCTGTGGAGGGTGCT

>24574_24574_2_DYM-MYO5B_DYM_chr18_46904937_ENST00000269445_MYO5B_chr18_47376030_ENST00000324581_length(amino acids)=450AA_BP=9
MKKNLLAITDLKELVEKLEKNERKLKKQLKIYMKKAQDLEAAQALAQSERKRHELNRQVTVQRKEKDFQGMLEYHKEDEALLIRNLVTDL
KPQMLSGTVPCLPAYILYMCIRHADYTNDDLKVHSLLTSTINGIKKVLKKHNDDFEMTSFWLSNTCRLLHCLKQYSGDEGFMTQNTAKQN
EHCLKNFDLTEYRQVLSDLSIQIYQQLIKIAEGVLQPMIVSAMLENESIQGLSGVKPTGYRKRSSSMADGDNSYCLEAIIRQMNAFHTVM
CDQGLDPEIILQVFKQLFYMINAVTLNNLLLRKDVCSWSTGMQLRYNISQLEEWLRGRNLHQSGAVQTMEPLIQAAQLLQLKKKTQEDAE
AICSLCTSLSTQQIVKILNLYTPLNEFEERVTVAFIRTIQAQLQERNDPQQLLLDAKHMFPVLFPFNPSSLTMDSIHIPACLNLEFLNEV

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Fusion Gene PPI Analysis for DYM-MYO5B


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 DYM-MYO5B


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 DYM-MYO5B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDYMC0265286Dyggve-Melchior-Clausen syndrome5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneDYMC3888088SMITH-MCCORT DYSPLASIA 14GENOMICS_ENGLAND;UNIPROT
HgeneDYMC1846431SMITH-MCCORT DYSPLASIA2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneDYMC0036341Schizophrenia1PSYGENET
TgeneC0341306Microvillus inclusion disease7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0008370Cholestasis1GENOMICS_ENGLAND
TgeneC0011991Diarrhea1CTD_human
TgeneC0021831Intestinal Diseases1CTD_human
TgeneC0023903Liver neoplasms1CTD_human
TgeneC0025521Inborn Errors of Metabolism1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0236733Amphetamine-Related Disorders1CTD_human
TgeneC0236804Amphetamine Addiction1CTD_human
TgeneC0236807Amphetamine Abuse1CTD_human
TgeneC0345904Malignant neoplasm of liver1CTD_human
TgeneC4551898Cholestasis, progressive familial intrahepatic 11ORPHANET