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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 23185

FusionGeneSummary for MYO6_MYO6

check button Fusion gene summary
Fusion gene informationFusion gene name: MYO6_MYO6
Fusion gene ID: 23185
HgeneTgene
Gene symbol

MYO6

MYO6

Gene ID

4646

4646

Gene namemyosin VImyosin VI
SynonymsDFNA22|DFNB37|Myo6-007|Myo6-008DFNA22|DFNB37|Myo6-007|Myo6-008
Cytomap

6q14.1

6q14.1

Type of geneprotein-codingprotein-coding
Descriptionunconventional myosin-VImyosin VI transcript variant 007myosin VI transcript variant 008unconventional myosin-6unconventional myosin-VImyosin VI transcript variant 007myosin VI transcript variant 008unconventional myosin-6
Modification date2018052720180527
UniProtAcc

Q9UM54

Q9UM54

Ensembl transtripts involved in fusion geneENST00000369981, ENST00000369985, 
ENST00000369977, ENST00000369975, 
ENST00000462633, 		ENST00000369981, 
ENST00000369985, ENST00000369977, 
ENST00000369975, ENST00000462633, 
Fusion gene scores* DoF score9 X 8 X 8=5767 X 8 X 5=280
# samples 179
** MAII scorelog2(17/576*10)=-1.76053406530461
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/280*10)=-1.63742992061529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MYO6 [Title/Abstract] AND MYO6 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneMYO6

GO:0030330

DNA damage response, signal transduction by p53 class mediator

16507995

TgeneMYO6

GO:0030330

DNA damage response, signal transduction by p53 class mediator

16507995


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BF800087MYO6chr6

76474229

-MYO6chr6

76471333

+
ChiTaRS3.1CA430517MYO6chr6

76596657

-MYO6chr6

76589571

+
ChiTaRS3.1AW151244MYO6chr6

76589812

-MYO6chr6

76570792

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-intronENST00000369981ENST00000369981MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000369981ENST00000369985MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000369981ENST00000369977MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000369981ENST00000369975MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000369981ENST00000462633MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000369985ENST00000369981MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000369985ENST00000369985MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000369985ENST00000369977MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000369985ENST00000369975MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000369985ENST00000462633MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000369977ENST00000369981MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000369977ENST00000369985MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000369977ENST00000369977MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000369977ENST00000369975MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000369977ENST00000462633MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000369975ENST00000369981MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000369975ENST00000369985MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000369975ENST00000369977MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000369975ENST00000369975MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000369975ENST00000462633MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000462633ENST00000369981MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000462633ENST00000369985MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000462633ENST00000369977MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000462633ENST00000369975MYO6chr6

76474229

-MYO6chr6

76471333

+
intron-intronENST00000462633ENST00000462633MYO6chr6

76474229

-MYO6chr6

76471333

+
Frame-shiftENST00000369981ENST00000369981MYO6chr6

76596657

-MYO6chr6

76589571

+
Frame-shiftENST00000369981ENST00000369985MYO6chr6

76596657

-MYO6chr6

76589571

+
Frame-shiftENST00000369981ENST00000369977MYO6chr6

76596657

-MYO6chr6

76589571

+
Frame-shiftENST00000369981ENST00000369975MYO6chr6

76596657

-MYO6chr6

76589571

+
5CDS-3UTRENST00000369981ENST00000462633MYO6chr6

76596657

-MYO6chr6

76589571

+
Frame-shiftENST00000369985ENST00000369981MYO6chr6

76596657

-MYO6chr6

76589571

+
Frame-shiftENST00000369985ENST00000369985MYO6chr6

76596657

-MYO6chr6

76589571

+
Frame-shiftENST00000369985ENST00000369977MYO6chr6

76596657

-MYO6chr6

76589571

+
Frame-shiftENST00000369985ENST00000369975MYO6chr6

76596657

-MYO6chr6

76589571

+
5CDS-3UTRENST00000369985ENST00000462633MYO6chr6

76596657

-MYO6chr6

76589571

+
Frame-shiftENST00000369977ENST00000369981MYO6chr6

76596657

-MYO6chr6

76589571

+
Frame-shiftENST00000369977ENST00000369985MYO6chr6

76596657

-MYO6chr6

76589571

+
Frame-shiftENST00000369977ENST00000369977MYO6chr6

76596657

-MYO6chr6

76589571

+
Frame-shiftENST00000369977ENST00000369975MYO6chr6

76596657

-MYO6chr6

76589571

+
5CDS-3UTRENST00000369977ENST00000462633MYO6chr6

76596657

-MYO6chr6

76589571

+
Frame-shiftENST00000369975ENST00000369981MYO6chr6

76596657

-MYO6chr6

76589571

+
Frame-shiftENST00000369975ENST00000369985MYO6chr6

76596657

-MYO6chr6

76589571

+
Frame-shiftENST00000369975ENST00000369977MYO6chr6

76596657

-MYO6chr6

76589571

+
Frame-shiftENST00000369975ENST00000369975MYO6chr6

76596657

-MYO6chr6

76589571

+
5CDS-3UTRENST00000369975ENST00000462633MYO6chr6

76596657

-MYO6chr6

76589571

+
intron-3CDSENST00000462633ENST00000369981MYO6chr6

76596657

-MYO6chr6

76589571

+
intron-3CDSENST00000462633ENST00000369985MYO6chr6

76596657

-MYO6chr6

76589571

+
intron-3CDSENST00000462633ENST00000369977MYO6chr6

76596657

-MYO6chr6

76589571

+
intron-3CDSENST00000462633ENST00000369975MYO6chr6

76596657

-MYO6chr6

76589571

+
intron-3UTRENST00000462633ENST00000462633MYO6chr6

76596657

-MYO6chr6

76589571

+
In-frameENST00000369981ENST00000369981MYO6chr6

76589812

-MYO6chr6

76570792

+
In-frameENST00000369981ENST00000369985MYO6chr6

76589812

-MYO6chr6

76570792

+
In-frameENST00000369981ENST00000369977MYO6chr6

76589812

-MYO6chr6

76570792

+
In-frameENST00000369981ENST00000369975MYO6chr6

76589812

-MYO6chr6

76570792

+
5CDS-intronENST00000369981ENST00000462633MYO6chr6

76589812

-MYO6chr6

76570792

+
In-frameENST00000369985ENST00000369981MYO6chr6

76589812

-MYO6chr6

76570792

+
In-frameENST00000369985ENST00000369985MYO6chr6

76589812

-MYO6chr6

76570792

+
In-frameENST00000369985ENST00000369977MYO6chr6

76589812

-MYO6chr6

76570792

+
In-frameENST00000369985ENST00000369975MYO6chr6

76589812

-MYO6chr6

76570792

+
5CDS-intronENST00000369985ENST00000462633MYO6chr6

76589812

-MYO6chr6

76570792

+
In-frameENST00000369977ENST00000369981MYO6chr6

76589812

-MYO6chr6

76570792

+
In-frameENST00000369977ENST00000369985MYO6chr6

76589812

-MYO6chr6

76570792

+
In-frameENST00000369977ENST00000369977MYO6chr6

76589812

-MYO6chr6

76570792

+
In-frameENST00000369977ENST00000369975MYO6chr6

76589812

-MYO6chr6

76570792

+
5CDS-intronENST00000369977ENST00000462633MYO6chr6

76589812

-MYO6chr6

76570792

+
In-frameENST00000369975ENST00000369981MYO6chr6

76589812

-MYO6chr6

76570792

+
In-frameENST00000369975ENST00000369985MYO6chr6

76589812

-MYO6chr6

76570792

+
In-frameENST00000369975ENST00000369977MYO6chr6

76589812

-MYO6chr6

76570792

+
In-frameENST00000369975ENST00000369975MYO6chr6

76589812

-MYO6chr6

76570792

+
5CDS-intronENST00000369975ENST00000462633MYO6chr6

76589812

-MYO6chr6

76570792

+
3UTR-3CDSENST00000462633ENST00000369981MYO6chr6

76589812

-MYO6chr6

76570792

+
3UTR-3CDSENST00000462633ENST00000369985MYO6chr6

76589812

-MYO6chr6

76570792

+
3UTR-3CDSENST00000462633ENST00000369977MYO6chr6

76589812

-MYO6chr6

76570792

+
3UTR-3CDSENST00000462633ENST00000369975MYO6chr6

76589812

-MYO6chr6

76570792

+
3UTR-intronENST00000462633ENST00000462633MYO6chr6

76589812

-MYO6chr6

76570792

+

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FusionProtFeatures for MYO6_MYO6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MYO6

Q9UM54

MYO6

Q9UM54

Myosins are actin-based motor molecules with ATPaseactivity. Unconventional myosins serve in intracellular movements.Myosin 6 is a reverse-direction motor protein that moves towardsthe minus-end of actin filaments. Has slow rate of actin-activatedADP release due to weak ATP binding. Functions in a variety ofintracellular processes such as vesicular membrane trafficking andcell migration. Required for the structural integrity of the Golgiapparatus via the p53-dependent pro-survival pathway. Appears tobe involved in a very early step of clathrin-mediated endocytosisin polarized epithelial cells. May act as a regulator of F-actindynamics. May play a role in transporting DAB2 from the plasmamembrane to specific cellular targets. Required for structuralintegrity of inner ear hair cells (By similarity). {ECO:0000250,ECO:0000269|PubMed:10519557, ECO:0000269|PubMed:11447109,ECO:0000269|PubMed:16507995, ECO:0000269|PubMed:16949370}. Myosins are actin-based motor molecules with ATPaseactivity. Unconventional myosins serve in intracellular movements.Myosin 6 is a reverse-direction motor protein that moves towardsthe minus-end of actin filaments. Has slow rate of actin-activatedADP release due to weak ATP binding. Functions in a variety ofintracellular processes such as vesicular membrane trafficking andcell migration. Required for the structural integrity of the Golgiapparatus via the p53-dependent pro-survival pathway. Appears tobe involved in a very early step of clathrin-mediated endocytosisin polarized epithelial cells. May act as a regulator of F-actindynamics. May play a role in transporting DAB2 from the plasmamembrane to specific cellular targets. Required for structuralintegrity of inner ear hair cells (By similarity). {ECO:0000250,ECO:0000269|PubMed:10519557, ECO:0000269|PubMed:11447109,ECO:0000269|PubMed:16507995, ECO:0000269|PubMed:16949370}.

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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FusionGeneSequence for MYO6_MYO6


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MYO6_MYO6


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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RelatedDrugs for MYO6_MYO6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MYO6_MYO6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMYO6C2931767Deafness, autosomal dominant nonsyndromic sensorineural 222CTD_human;ORPHANET;UNIPROT
HgeneMYO6C0236969Substance-Related Disorders1CTD_human
HgeneMYO6C1843028Deafness, Autosomal Recessive 371CTD_human;UNIPROT
TgeneMYO6C2931767Deafness, autosomal dominant nonsyndromic sensorineural 222CTD_human;ORPHANET;UNIPROT
TgeneMYO6C0236969Substance-Related Disorders1CTD_human
TgeneMYO6C1843028Deafness, Autosomal Recessive 371CTD_human;UNIPROT