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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:24552)

Fusion Gene Summary for DYM-MYO5B

check button Fusion gene summary
Fusion gene informationFusion gene name: DYM-MYO5B
Fusion gene ID: 24552
HgeneTgene
Gene symbol

DYM

MYO5B

Gene ID

54808

4645

Gene namedymeclinmyosin VB
SynonymsDMC|SMC-
Cytomap

18q21.1

18q21.1

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

Q9ULV0

Ensembl transtripts involved in fusion geneENST00000442713, ENST00000269445, 
ENST00000584977, ENST00000578396, 
ENST00000285039, ENST00000324581, 
ENST00000592688, ENST00000587895, 
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 breakpointMYO5B(47721137)-DYM(46645296), # samples:3
DYM(46904937)-MYO5B(47376030), # samples:2
DYM(46986768)-MYO5B(47581748), # samples:2
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

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.

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.

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
ChimerDB4BRCATCGA-AN-A0FJ-01ADYMchr18

46904937

-MYO5Bchr18

47376030

-
ChimerDB4STADTCGA-HU-A4GH-01ADYMchr18

46986768

-MYO5Bchr18

47581748

-
ChimerDB4STADTCGA-HU-A4GH-01ADYMchr18

46986768

-MYO5Bchr18

47581748

-
ChimerDB4BRCATCGA-AN-A0FJ-01ADYMchr18

46904937

-MYO5Bchr18

47376030

-


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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
intron-3CDSENST00000442713ENST00000285039DYMchr18

46904937

-MYO5Bchr18

47376030

-
intron-3CDSENST00000442713ENST00000324581DYMchr18

46904937

-MYO5Bchr18

47376030

-
intron-5UTRENST00000442713ENST00000592688DYMchr18

46904937

-MYO5Bchr18

47376030

-
intron-intronENST00000442713ENST00000587895DYMchr18

46904937

-MYO5Bchr18

47376030

-
In-frameENST00000269445ENST00000285039DYMchr18

46904937

-MYO5Bchr18

47376030

-
In-frameENST00000269445ENST00000324581DYMchr18

46904937

-MYO5Bchr18

47376030

-
5CDS-5UTRENST00000269445ENST00000592688DYMchr18

46904937

-MYO5Bchr18

47376030

-
5CDS-intronENST00000269445ENST00000587895DYMchr18

46904937

-MYO5Bchr18

47376030

-
intron-3CDSENST00000584977ENST00000285039DYMchr18

46904937

-MYO5Bchr18

47376030

-
intron-3CDSENST00000584977ENST00000324581DYMchr18

46904937

-MYO5Bchr18

47376030

-
intron-5UTRENST00000584977ENST00000592688DYMchr18

46904937

-MYO5Bchr18

47376030

-
intron-intronENST00000584977ENST00000587895DYMchr18

46904937

-MYO5Bchr18

47376030

-
5UTR-3CDSENST00000578396ENST00000285039DYMchr18

46904937

-MYO5Bchr18

47376030

-
5UTR-3CDSENST00000578396ENST00000324581DYMchr18

46904937

-MYO5Bchr18

47376030

-
5UTR-5UTRENST00000578396ENST00000592688DYMchr18

46904937

-MYO5Bchr18

47376030

-
5UTR-intronENST00000578396ENST00000587895DYMchr18

46904937

-MYO5Bchr18

47376030

-
5UTR-3CDSENST00000442713ENST00000285039DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-intronENST00000442713ENST00000324581DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-intronENST00000442713ENST00000592688DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-intronENST00000442713ENST00000587895DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-3CDSENST00000269445ENST00000285039DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-intronENST00000269445ENST00000324581DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-intronENST00000269445ENST00000592688DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-intronENST00000269445ENST00000587895DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-3CDSENST00000584977ENST00000285039DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-intronENST00000584977ENST00000324581DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-intronENST00000584977ENST00000592688DYMchr18

46986768

-MYO5Bchr18

47581748

-
5UTR-intronENST00000584977ENST00000587895DYMchr18

46986768

-MYO5Bchr18

47581748

-
intron-3CDSENST00000578396ENST00000285039DYMchr18

46986768

-MYO5Bchr18

47581748

-
intron-intronENST00000578396ENST00000324581DYMchr18

46986768

-MYO5Bchr18

47581748

-
intron-intronENST00000578396ENST00000592688DYMchr18

46986768

-MYO5Bchr18

47581748

-
intron-intronENST00000578396ENST00000587895DYMchr18

46986768

-MYO5Bchr18

47581748

-

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.

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 DYM-MYO5B


check button Go to

FGviewer for the breakpoints of 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.MYO5B

Q9ULV0

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.FUNCTION: May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Required in a complex with RAB11A and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Together with RAB11A participates in CFTR trafficking to the plasma membrane and TF (transferrin) recycling in nonpolarized cells. Together with RAB11A and RAB8A participates in epithelial cell polarization. Together with RAB25 regulates transcytosis. {ECO:0000269|PubMed:21206382, ECO:0000269|PubMed:21282656}.

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_18031407.01849.0DomainDilute

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneMYO5Bchr18:46904937chr18:47376030ENST0000028503930401341_14711407.01849.0Coiled coilOntology_term=ECO:0000255
TgeneMYO5Bchr18:46904937chr18:47376030ENST000002850393040899_12661407.01849.0Coiled coilOntology_term=ECO:0000255
TgeneMYO5Bchr18:46904937chr18:47376030ENST000002850393040801_9161407.01849.0Compositional biasNote=Arg-rich
TgeneMYO5Bchr18:46904937chr18:47376030ENST00000285039304069_7611407.01849.0DomainMyosin motor
TgeneMYO5Bchr18:46904937chr18:47376030ENST000002850393040769_7981407.01849.0DomainIQ 1
TgeneMYO5Bchr18:46904937chr18:47376030ENST000002850393040792_8211407.01849.0DomainIQ 2
TgeneMYO5Bchr18:46904937chr18:47376030ENST000002850393040817_8481407.01849.0DomainIQ 3
TgeneMYO5Bchr18:46904937chr18:47376030ENST000002850393040840_8691407.01849.0DomainIQ 4
TgeneMYO5Bchr18:46904937chr18:47376030ENST000002850393040865_8961407.01849.0DomainIQ 5
TgeneMYO5Bchr18:46904937chr18:47376030ENST000002850393040888_9171407.01849.0DomainIQ 6
TgeneMYO5Bchr18:46904937chr18:47376030ENST0000028503930408_601407.01849.0DomainMyosin N-terminal SH3-like
TgeneMYO5Bchr18:46904937chr18:47376030ENST000002850393040163_1701407.01849.0Nucleotide bindingATP
TgeneMYO5Bchr18:46904937chr18:47376030ENST000002850393040640_6621407.01849.0RegionActin-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.
>In-frame_ENST00000269445_ENST00000285039_TCGA-AN-A0FJ-01A_DYM_chr18_46904937_-_MYO5B_chr18_47376030_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

>In-frame_ENST00000269445_ENST00000285039_TCGA-AN-A0FJ-01A_DYM_chr18_46904937_-_MYO5B_chr18_47376030_length(amino acids)=450AA_start in transcript=852_stop in transcript=2204
MKKNLLAITDLKELVEKLEKNERKLKKQLKIYMKKAQDLEAAQALAQSERKRHELNRQVTVQRKEKDFQGMLEYHKEDEALLIRNLVTDL
KPQMLSGTVPCLPAYILYMCIRHADYTNDDLKVHSLLTSTINGIKKVLKKHNDDFEMTSFWLSNTCRLLHCLKQYSGDEGFMTQNTAKQN
EHCLKNFDLTEYRQVLSDLSIQIYQQLIKIAEGVLQPMIVSAMLENESIQGLSGVKPTGYRKRSSSMADGDNSYCLEAIIRQMNAFHTVM
CDQGLDPEIILQVFKQLFYMINAVTLNNLLLRKDVCSWSTGMQLRYNISQLEEWLRGRNLHQSGAVQTMEPLIQAAQLLQLKKKTQEDAE
AICSLCTSLSTQQIVKILNLYTPLNEFEERVTVAFIRTIQAQLQERNDPQQLLLDAKHMFPVLFPFNPSSLTMDSIHIPACLNLEFLNEV

--------------------------------------------------------------
>In-frame_ENST00000269445_ENST00000324581_TCGA-AN-A0FJ-01A_DYM_chr18_46904937_-_MYO5B_chr18_47376030_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

>In-frame_ENST00000269445_ENST00000324581_TCGA-AN-A0FJ-01A_DYM_chr18_46904937_-_MYO5B_chr18_47376030_length(amino acids)=450AA_start in transcript=852_stop in transcript=2204
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
TgeneMYO5BC0341306Microvillus inclusion disease7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneMYO5BC0008370Cholestasis1GENOMICS_ENGLAND
TgeneMYO5BC0011991Diarrhea1CTD_human
TgeneMYO5BC0021831Intestinal Diseases1CTD_human
TgeneMYO5BC0023903Liver neoplasms1CTD_human
TgeneMYO5BC0025521Inborn Errors of Metabolism1CTD_human
TgeneMYO5BC0036341Schizophrenia1PSYGENET
TgeneMYO5BC0236733Amphetamine-Related Disorders1CTD_human
TgeneMYO5BC0236804Amphetamine Addiction1CTD_human
TgeneMYO5BC0236807Amphetamine Abuse1CTD_human
TgeneMYO5BC0345904Malignant neoplasm of liver1CTD_human
TgeneMYO5BC4551898Cholestasis, progressive familial intrahepatic 11ORPHANET