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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: 40630

FusionGeneSummary for UBTF_MYH9

check button Fusion gene summary
Fusion gene informationFusion gene name: UBTF_MYH9
Fusion gene ID: 40630
HgeneTgene
Gene symbol

UBTF

MYH9

Gene ID

7343

4627

Gene nameupstream binding transcription factormyosin heavy chain 9
SynonymsCONDBA|NOR-90|UBF|UBF-1|UBF1|UBF2BDPLT6|DFNA17|EPSTS|FTNS|MHA|NMHC-II-A|NMMHC-IIA|NMMHCA
Cytomap

17q21.31

22q12.3

Type of geneprotein-codingprotein-coding
Descriptionnucleolar transcription factor 190-kDa nucleolus organizer region autoantigenautoantigen NOR-90upstream binding transcription factor, RNA polymerase Imyosin-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-A
Modification date2018052220180522
UniProtAcc

P17480

P35579

Ensembl transtripts involved in fusion geneENST00000343638, ENST00000302904, 
ENST00000527034, ENST00000533177, 
ENST00000436088, ENST00000393606, 
ENST00000529383, ENST00000526094, 
ENST00000537550, 		ENST00000216181, 
ENST00000475726, ENST00000401701, 
Fusion gene scores* DoF score9 X 10 X 6=54023 X 25 X 7=4025
# samples 1828
** MAII scorelog2(18/540*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(28/4025*10)=-3.84549005094438
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UBTF [Title/Abstract] AND MYH9 [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
HgeneUBTF

GO:1902659

regulation of glucose mediated signaling pathway

22368283

TgeneMYH9

GO:0001525

angiogenesis

16403913

TgeneMYH9

GO:0006509

membrane protein ectodomain proteolysis

16186248

TgeneMYH9

GO:0030048

actin filament-based movement

12237319|15845534

TgeneMYH9

GO:0031032

actomyosin structure organization

24072716


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
ChiTaRS3.1BG979531UBTFchr17

42289083

+MYH9chr22

36697672

-
* 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-3CDSENST00000343638ENST00000216181UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-intronENST00000343638ENST00000475726UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-intronENST00000343638ENST00000401701UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-3CDSENST00000302904ENST00000216181UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-intronENST00000302904ENST00000475726UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-intronENST00000302904ENST00000401701UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-3CDSENST00000527034ENST00000216181UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-intronENST00000527034ENST00000475726UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-intronENST00000527034ENST00000401701UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-3CDSENST00000533177ENST00000216181UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-intronENST00000533177ENST00000475726UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-intronENST00000533177ENST00000401701UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-3CDSENST00000436088ENST00000216181UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-intronENST00000436088ENST00000475726UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-intronENST00000436088ENST00000401701UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-3CDSENST00000393606ENST00000216181UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-intronENST00000393606ENST00000475726UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-intronENST00000393606ENST00000401701UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-3CDSENST00000529383ENST00000216181UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-intronENST00000529383ENST00000475726UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-intronENST00000529383ENST00000401701UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-3CDSENST00000526094ENST00000216181UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-intronENST00000526094ENST00000475726UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-intronENST00000526094ENST00000401701UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-3CDSENST00000537550ENST00000216181UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-intronENST00000537550ENST00000475726UBTFchr17

42289083

+MYH9chr22

36697672

-
intron-intronENST00000537550ENST00000401701UBTFchr17

42289083

+MYH9chr22

36697672

-

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FusionProtFeatures for UBTF_MYH9


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

P17480

MYH9

P35579

Recognizes the ribosomal RNA gene promoter and activatestranscription mediated by RNA polymerase I through cooperativeinteractions with the transcription factor SL1/TIF-IB complex. Itbinds specifically to the upstream control element.{ECO:0000269|PubMed:28777933, ECO:0000269|PubMed:7982918}. 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}.

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 UBTF_MYH9


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 UBTF_MYH9


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 UBTF_MYH9


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneMYH9P35579DB11638ArtenimolMyosin-9small moleculeapproved|investigational

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RelatedDiseases for UBTF_MYH9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMYH9C0403445Fechtner syndrome (disorder)9UNIPROT
TgeneMYH9C0398641Epstein syndrome (disorder)7UNIPROT
TgeneMYH9C0340978May-Hegglin anomaly6UNIPROT
TgeneMYH9C0022661Kidney Failure, Chronic2CTD_human
TgeneMYH9C1854520SEBASTIAN SYNDROME2CTD_human;ORPHANET;UNIPROT
TgeneMYH9C0017668Focal glomerulosclerosis1CTD_human
TgeneMYH9C0020544Renal hypertension1CTD_human
TgeneMYH9C0027706Hereditary nephritis1CTD_human
TgeneMYH9C0036341Schizophrenia1PSYGENET
TgeneMYH9C1863659DEAFNESS, AUTOSOMAL DOMINANT 171UNIPROT
TgeneMYH9C2673482Increased susceptibility to schizophrenia1PSYGENET