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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: 23031

FusionGeneSummary for MYH9_USP6

check button Fusion gene summary
Fusion gene informationFusion gene name: MYH9_USP6
Fusion gene ID: 23031
HgeneTgene
Gene symbol

MYH9

USP6

Gene ID

4627

9098

Gene namemyosin heavy chain 9ubiquitin specific peptidase 6
SynonymsBDPLT6|DFNA17|EPSTS|FTNS|MHA|NMHC-II-A|NMMHC-IIA|NMMHCAHRP1|TRE17|TRE2|TRESMCR|Tre-2|USP6-short
Cytomap

22q12.3

17p13.2

Type of geneprotein-codingprotein-coding
Descriptionmyosin-9cellular myosin heavy chain, type Amyosin, heavy chain 9, non-musclenon-muscle myosin heavy chain 9non-muscle myosin heavy chain Anon-muscle myosin heavy chain IIanon-muscle myosin heavy polypeptide 9nonmuscle myosin heavy chain II-Aubiquitin carboxyl-terminal hydrolase 6TBC1D3 and USP32 fusiondeubiquitinating enzyme 6hyperpolymorphic gene 1proto-oncogene TRE-2ubiquitin specific peptidase 6 (Tre-2 oncogene)ubiquitin specific protease 6 (Tre-2 oncogene)ubiquitin thioesterase 6
Modification date2018052220180523
UniProtAcc

P35579

P35125

Ensembl transtripts involved in fusion geneENST00000216181, ENST00000475726, 
ENST00000401701, 		ENST00000332776, 
ENST00000574788, ENST00000304328, 
ENST00000250066, ENST00000572429, 
Fusion gene scores* DoF score36 X 33 X 15=178206 X 5 X 1=30
# samples 5012
** MAII scorelog2(50/17820*10)=-5.1554254317472
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/30*10)=2
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MYH9 [Title/Abstract] AND USP6 [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
HgeneMYH9

GO:0001525

angiogenesis

16403913

HgeneMYH9

GO:0006509

membrane protein ectodomain proteolysis

16186248

HgeneMYH9

GO:0030048

actin filament-based movement

12237319|15845534

HgeneMYH9

GO:0031032

actomyosin structure organization

24072716

TgeneUSP6

GO:0016579

protein deubiquitination

16127172

TgeneUSP6

GO:0060627

regulation of vesicle-mediated transport

15509780


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
ChiTaRS3.1HQ326700MYH9chr22

36783851

-USP6chr17

5033229

+
ChiTaRS3.1HQ326701MYH9chr22

36783851

-USP6chr17

5033659

+
* 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
5UTR-5UTRENST00000216181ENST00000332776MYH9chr22

36783851

-USP6chr17

5033229

+
5UTR-5UTRENST00000216181ENST00000574788MYH9chr22

36783851

-USP6chr17

5033229

+
5UTR-5UTRENST00000216181ENST00000304328MYH9chr22

36783851

-USP6chr17

5033229

+
5UTR-5UTRENST00000216181ENST00000250066MYH9chr22

36783851

-USP6chr17

5033229

+
5UTR-intronENST00000216181ENST00000572429MYH9chr22

36783851

-USP6chr17

5033229

+
intron-5UTRENST00000475726ENST00000332776MYH9chr22

36783851

-USP6chr17

5033229

+
intron-5UTRENST00000475726ENST00000574788MYH9chr22

36783851

-USP6chr17

5033229

+
intron-5UTRENST00000475726ENST00000304328MYH9chr22

36783851

-USP6chr17

5033229

+
intron-5UTRENST00000475726ENST00000250066MYH9chr22

36783851

-USP6chr17

5033229

+
intron-intronENST00000475726ENST00000572429MYH9chr22

36783851

-USP6chr17

5033229

+
intron-5UTRENST00000401701ENST00000332776MYH9chr22

36783851

-USP6chr17

5033229

+
intron-5UTRENST00000401701ENST00000574788MYH9chr22

36783851

-USP6chr17

5033229

+
intron-5UTRENST00000401701ENST00000304328MYH9chr22

36783851

-USP6chr17

5033229

+
intron-5UTRENST00000401701ENST00000250066MYH9chr22

36783851

-USP6chr17

5033229

+
intron-intronENST00000401701ENST00000572429MYH9chr22

36783851

-USP6chr17

5033229

+
5UTR-5UTRENST00000216181ENST00000332776MYH9chr22

36783851

-USP6chr17

5033659

+
5UTR-5UTRENST00000216181ENST00000574788MYH9chr22

36783851

-USP6chr17

5033659

+
5UTR-5UTRENST00000216181ENST00000304328MYH9chr22

36783851

-USP6chr17

5033659

+
5UTR-5UTRENST00000216181ENST00000250066MYH9chr22

36783851

-USP6chr17

5033659

+
5UTR-intronENST00000216181ENST00000572429MYH9chr22

36783851

-USP6chr17

5033659

+
intron-5UTRENST00000475726ENST00000332776MYH9chr22

36783851

-USP6chr17

5033659

+
intron-5UTRENST00000475726ENST00000574788MYH9chr22

36783851

-USP6chr17

5033659

+
intron-5UTRENST00000475726ENST00000304328MYH9chr22

36783851

-USP6chr17

5033659

+
intron-5UTRENST00000475726ENST00000250066MYH9chr22

36783851

-USP6chr17

5033659

+
intron-intronENST00000475726ENST00000572429MYH9chr22

36783851

-USP6chr17

5033659

+
intron-5UTRENST00000401701ENST00000332776MYH9chr22

36783851

-USP6chr17

5033659

+
intron-5UTRENST00000401701ENST00000574788MYH9chr22

36783851

-USP6chr17

5033659

+
intron-5UTRENST00000401701ENST00000304328MYH9chr22

36783851

-USP6chr17

5033659

+
intron-5UTRENST00000401701ENST00000250066MYH9chr22

36783851

-USP6chr17

5033659

+
intron-intronENST00000401701ENST00000572429MYH9chr22

36783851

-USP6chr17

5033659

+

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FusionProtFeatures for MYH9_USP6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MYH9

P35579

USP6

P35125

Cellular myosin that appears to play a role incytokinesis, cell shape, and specialized functions such assecretion and capping. During cell spreading, plays an importantrole in cytoskeleton reorganization, focal contacts formation (inthe margins but not the central part of spreading cells), andlamellipodial retraction; this function is mechanicallyantagonized by MYH10. {ECO:0000269|PubMed:20052411}. Deubiquitinase with an ATP-independent isopeptidaseactivity, cleaving at the C-terminus of the ubiquitin moiety.Catalyzes its own deubiquitination. In vitro, isoform 2, but notisoform 3, shows deubiquitinating activity. Promotes plasmamembrane localization of ARF6 and selectively regulates ARF6-dependent endocytic protein trafficking. Is able to initiatetumorigenesis by inducing the production of matrixmetalloproteinases following NF-kappa-B activation.{ECO:0000269|PubMed:15509780, ECO:0000269|PubMed:16127172,ECO:0000269|PubMed:20418905}.

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 MYH9_USP6


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 MYH9_USP6


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
MYH9EPB41, MARK4, ASCC2, MYL9, PRKCE, USP1, USP45, GRB2, RAC1, YWHAZ, EMD, TERF1, TERF2, CBL, PPP2R4, AGO3, YWHAQ, MME, HDAC5, NCOA3, CREBBP, UBE3A, ARRB1, ARRB2, SIRT7, TRAF4, SP1, ISG15, FBXO25, CDK2, CUL1, TRIM72, GRK5, UBASH3B, PIK3R2, SHC1, MYL6, SPTAN1, HSP90AB1, ACTA2, MYH10, HNRNPU, FLNA, ACTR1A, RAB11A, EIF4B, SEL1L, ATP5A1, SEPT7, RALA, HSPA5, TUBA4A, EIF3A, EIF3C, TPM4, MRPS18B, PSME3, HSPA1A, ESR1, TSGA10, EIF4A3, MAGOH, TRAF3IP1, MEN1, HSP90AA1, VCAM1, FN1, IQCB1, ITGA4, PAN2, ACE, ACTB, CSNK2A1, PIK3C3, PPP2CA, CASP4, TARDBP, AKAP10, CDC73, MYH14, OTUD6B, MYL12A, RPA1, RPA2, RPA3, LGR4, IVNS1ABP, TP53, HUWE1, ALK, UBE2I, EED, AMFR, OS9, SYVN1, ATG9A, USP7, HNRNPA1, ATP5L, MYO1E, SRSF5, SSB, NTRK1, ACTA1, ACTG1, ACTN4, ACTN1, AP2A1, AP2B1, ANXA2, APOB, DST, CALD1, CALM1, CALML3, CAPZA1, CAPZA2, CAPZB, CD44, CFL1, CFL2, AP2M1, CLTA, CLTB, CLTC, CPM, DAB2, DAPK3, DBN1, DSG2, CTTN, STOM, EPS15, FLII, FLNB, FYN, GNAI1, GNAI2, GNAS, GNB2, GSN, HIP1, ITPR2, ITPR3, JUP, LGALS1, ABLIM1, LMO7, LSS, LYN, MYO1B, MSN, PDLIM7, ANLN, MYO19, MYO18A, MYLK, MYO1C, MYO5A, MYO5B, MYO6, PPP1R12A, PPP1R12B, NAP1L1, PAWR, PIK3C2A, PLEC, PLS1, PPIA, PPP1CA, PPP1CB, PPP1CC, PSMB10, TWF1, PEX5, RPL22, SIPA1, SORD, SPTBN1, SPTBN2, SSFA2, ST5, SVIL, TCEA2, TMOD1, TNFAIP1, TPM1, TPM2, TPM3, CORO2A, YES1, LUZP1, PICALM, PIP5K1A, SORBS2, IQGAP1, HIP1R, GPRC5A, LRRFIP2, CLINT1, ARHGAP11A, ARHGEF17, SEC16A, WDR1, ARPC4, ARPC3, ARPC1B, ACTR3, ACTR2, ARPC2, BCAP31, FLOT1, BASP1, IMMT, RBPMS, DSTN, TRIOBP, CEP250, AKAP2, TWF2, SYNPO, CEP162, LIMCH1, PALLD, SIPA1L3, MPRIP, COBL, KIF13B, SPECC1L, ATP13A2, MACF1, CORO1C, STX12, GCA, PLEKHG3, RAI14, ZBTB20, AHDC1, PACSIN3, TMOD3, PNMA3, FCF1, CEP83, LIMA1, GTSE1, KDM3B, UACA, CDCA8, BMP2K, UNC45A, MYO5C, GNG12, MUC13, CORO1B, MICAL3, ARHGAP21, SHROOM3, AFAP1, INF2, NARFL, METTL17, AHNAK, EFHD2, CYBRD1, WDR76, DSN1, RNF170, TRIM56, ARPC5L, ANTXR1, LZTS2, PPP1R9B, CEP89, STON2, DOCK7, DIXDC1, SSH2, NEXN, ELMSAN1, SPECC1, CCDC102A, FCHO2, MISP, JMY, CD109, ACTRT1, MYL6B, CCDC50, OARD1, GAS2L3, TTLL6, TPRN, ACTBL2, MCM2, MCM5, SNW1, CDC5L, BOP1, PES1, EGFR, CDH1, C9orf156, MYL3, H2AFY, CYLD, TRIM25, BRCA1, HDAC6USP6USP32, CALM2, RAC1, CDC42, RAB33B, ARF6, MYL2, ANKRD44, ATXN7L3, APP, MDFI, EXOSC8, KRAS, JUN


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 MYH9_USP6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneMYH9P35579DB11638ArtenimolMyosin-9small moleculeapproved|investigational

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RelatedDiseases for MYH9_USP6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMYH9C0403445Fechtner syndrome (disorder)9UNIPROT
HgeneMYH9C0398641Epstein syndrome (disorder)7UNIPROT
HgeneMYH9C0340978May-Hegglin anomaly6UNIPROT
HgeneMYH9C0022661Kidney Failure, Chronic2CTD_human
HgeneMYH9C1854520SEBASTIAN SYNDROME2CTD_human;ORPHANET;UNIPROT
HgeneMYH9C0017668Focal glomerulosclerosis1CTD_human
HgeneMYH9C0020544Renal hypertension1CTD_human
HgeneMYH9C0027706Hereditary nephritis1CTD_human
HgeneMYH9C0036341Schizophrenia1PSYGENET
HgeneMYH9C1863659DEAFNESS, AUTOSOMAL DOMINANT 171UNIPROT
HgeneMYH9C2673482Increased susceptibility to schizophrenia1PSYGENET