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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: 41228

FusionGeneSummary for USP9Y_ERC1

check button Fusion gene summary
Fusion gene informationFusion gene name: USP9Y_ERC1
Fusion gene ID: 41228
HgeneTgene
Gene symbol

USP9Y

ERC1

Gene ID

8287

23085

Gene nameubiquitin specific peptidase 9 Y-linkedELKS/RAB6-interacting/CAST family member 1
SynonymsDFFRY|SPGFY2Cast2|ELKS|ERC-1|RAB6IP2
Cytomap

Yq11.221

12p13.33

Type of geneprotein-codingprotein-coding
Descriptionprobable ubiquitin carboxyl-terminal hydrolase FAF-Ydeubiquitinating enzyme FAF-Yfat facets protein-related, Y-linkedubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)ubiquitin thioesterase FAF-Yubiquitin thiolesterase FAF-YubiquELKS/Rab6-interacting/CAST family member 1RAB6 interacting protein 2
Modification date2018052320180522
UniProtAcc

O00507

Q8IUD2

Ensembl transtripts involved in fusion geneENST00000338981, ENST00000426564, 
ENST00000543086, ENST00000546231, 
ENST00000397203, ENST00000360905, 
ENST00000589028, ENST00000355446, 
ENST00000536573, 
Fusion gene scores* DoF score1 X 1 X 1=110 X 9 X 6=540
# samples 111
** MAII scorelog2(1/1*10)=3.32192809488736log2(11/540*10)=-2.29545588352617
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: USP9Y [Title/Abstract] AND ERC1 [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
TgeneERC1

GO:0007252

I-kappaB phosphorylation

15218148


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
TCGARVSARCTCGA-SI-A71O-06AUSP9YchrY

14851563

+ERC1chr12

1345935

+
* 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
Frame-shiftENST00000338981ENST00000543086USP9YchrY

14851563

+ERC1chr12

1345935

+
Frame-shiftENST00000338981ENST00000546231USP9YchrY

14851563

+ERC1chr12

1345935

+
Frame-shiftENST00000338981ENST00000397203USP9YchrY

14851563

+ERC1chr12

1345935

+
Frame-shiftENST00000338981ENST00000360905USP9YchrY

14851563

+ERC1chr12

1345935

+
Frame-shiftENST00000338981ENST00000589028USP9YchrY

14851563

+ERC1chr12

1345935

+
Frame-shiftENST00000338981ENST00000355446USP9YchrY

14851563

+ERC1chr12

1345935

+
5CDS-3UTRENST00000338981ENST00000536573USP9YchrY

14851563

+ERC1chr12

1345935

+
3UTR-3CDSENST00000426564ENST00000543086USP9YchrY

14851563

+ERC1chr12

1345935

+
3UTR-3CDSENST00000426564ENST00000546231USP9YchrY

14851563

+ERC1chr12

1345935

+
3UTR-3CDSENST00000426564ENST00000397203USP9YchrY

14851563

+ERC1chr12

1345935

+
3UTR-3CDSENST00000426564ENST00000360905USP9YchrY

14851563

+ERC1chr12

1345935

+
3UTR-3CDSENST00000426564ENST00000589028USP9YchrY

14851563

+ERC1chr12

1345935

+
3UTR-3CDSENST00000426564ENST00000355446USP9YchrY

14851563

+ERC1chr12

1345935

+
3UTR-3UTRENST00000426564ENST00000536573USP9YchrY

14851563

+ERC1chr12

1345935

+

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FusionProtFeatures for USP9Y_ERC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
USP9Y

O00507

ERC1

Q8IUD2

May function as a ubiquitin-protein or polyubiquitinhydrolase involved both in the processing of ubiquitin precursorsand of ubiquitinated proteins. May therefore play an importantregulatory role at the level of protein turnover by preventingdegradation of proteins through the removal of conjugatedubiquitin. Essential component of TGF-beta/BMP signaling cascade.Deubiquitinates monoubiquitinated SMAD4, opposing the activity ofE3 ubiquitin-protein ligase TRIM33. Monoubiquitination of SMAD4hampers its ability to form a stable complex with activatedSMAD2/3 resulting in inhibition of TGF-beta/BMP signaling cascade.Deubiquitination of SMAD4 by USP9X re-empowers its competence tomediate TGF-beta signaling (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

- 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 USP9Y_ERC1


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 USP9Y_ERC1


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
USP9YPMS1, SIRT1, SHC1, UBC, CSNK1E, VSX1, KRAS, CLK3, NCKIPSD, ZNF331, HS2ST1, AKT2ERC1YWHAG, TWF2, RAB6A, RAB6B, KBTBD7, IKBKB, MAP3K7, IKBKG, XIAP, ITSN2, RAD23A, SH3KBP1, CHUK, NFKBIA, CUL3, APP, ATP6V0D1, NCBP1, WDR4, ERC2, MYC, PAN2, CDK19, MAPK4, CDK20, LATS2, STK4, GFOD1, ADPRHL2, SNX2, MED4, EWSR1, SRPK2, OFD1, PCM1, CEP104, CEP162, CEP152, CEP128, CEP135, CEP89, CNTRL, FBF1, NINL, NIN, SCLT1, SASS6, DVL2, SLC16A6, KIF23, MAPRE1, RACGAP1, CHST15, PPP1R21, MACROD1, PCGF1, NANOG, POU5F1, NHLRC2, CDH1, EYA4, TSHB, SPERT, TRIM25, BRCA1


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 USP9Y_ERC1


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 USP9Y_ERC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource