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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: 5114

FusionGeneSummary for C9orf3_UBAP2

check button Fusion gene summary
Fusion gene informationFusion gene name: C9orf3_UBAP2
Fusion gene ID: 5114
HgeneTgene
Gene symbol

C9orf3

UBAP2

Gene ID

84909

55833

Gene namechromosome 9 open reading frame 3ubiquitin associated protein 2
SynonymsAOPEP|AP-O|APO|C90RF3|ONPEPUBAP-2
Cytomap

9q22.32

9p13.3

Type of geneprotein-codingprotein-coding
Descriptionaminopeptidase Oubiquitin-associated protein 2AD-012 protein
Modification date2018052320180523
UniProtAcc

Q5T6F2

Ensembl transtripts involved in fusion geneENST00000277198, ENST00000297979, 
ENST00000375315, ENST00000395357, 
ENST00000425634, ENST00000433691, 
ENST00000473778, 		ENST00000449054, 
ENST00000379238, ENST00000360802, 
ENST00000379239, ENST00000539807, 
ENST00000418786, ENST00000379225, 
ENST00000379235, ENST00000480885, 
Fusion gene scores* DoF score12 X 11 X 7=9244 X 4 X 2=32
# samples 124
** MAII scorelog2(12/924*10)=-2.94485844580754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: C9orf3 [Title/Abstract] AND UBAP2 [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
HgeneC9orf3

GO:0006508

proteolysis

15687497


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
TCGALDBRCATCGA-D8-A1J9-01AC9orf3chr9

97555200

+UBAP2chr9

33960876

-
* 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-shiftENST00000277198ENST00000449054C9orf3chr9

97555200

+UBAP2chr9

33960876

-
Frame-shiftENST00000277198ENST00000379238C9orf3chr9

97555200

+UBAP2chr9

33960876

-
Frame-shiftENST00000277198ENST00000360802C9orf3chr9

97555200

+UBAP2chr9

33960876

-
Frame-shiftENST00000277198ENST00000379239C9orf3chr9

97555200

+UBAP2chr9

33960876

-
5CDS-intronENST00000277198ENST00000539807C9orf3chr9

97555200

+UBAP2chr9

33960876

-
5CDS-intronENST00000277198ENST00000418786C9orf3chr9

97555200

+UBAP2chr9

33960876

-
5CDS-intronENST00000277198ENST00000379225C9orf3chr9

97555200

+UBAP2chr9

33960876

-
5CDS-intronENST00000277198ENST00000379235C9orf3chr9

97555200

+UBAP2chr9

33960876

-
5CDS-intronENST00000277198ENST00000480885C9orf3chr9

97555200

+UBAP2chr9

33960876

-
Frame-shiftENST00000297979ENST00000449054C9orf3chr9

97555200

+UBAP2chr9

33960876

-
Frame-shiftENST00000297979ENST00000379238C9orf3chr9

97555200

+UBAP2chr9

33960876

-
Frame-shiftENST00000297979ENST00000360802C9orf3chr9

97555200

+UBAP2chr9

33960876

-
Frame-shiftENST00000297979ENST00000379239C9orf3chr9

97555200

+UBAP2chr9

33960876

-
5CDS-intronENST00000297979ENST00000539807C9orf3chr9

97555200

+UBAP2chr9

33960876

-
5CDS-intronENST00000297979ENST00000418786C9orf3chr9

97555200

+UBAP2chr9

33960876

-
5CDS-intronENST00000297979ENST00000379225C9orf3chr9

97555200

+UBAP2chr9

33960876

-
5CDS-intronENST00000297979ENST00000379235C9orf3chr9

97555200

+UBAP2chr9

33960876

-
5CDS-intronENST00000297979ENST00000480885C9orf3chr9

97555200

+UBAP2chr9

33960876

-
Frame-shiftENST00000375315ENST00000449054C9orf3chr9

97555200

+UBAP2chr9

33960876

-
Frame-shiftENST00000375315ENST00000379238C9orf3chr9

97555200

+UBAP2chr9

33960876

-
Frame-shiftENST00000375315ENST00000360802C9orf3chr9

97555200

+UBAP2chr9

33960876

-
Frame-shiftENST00000375315ENST00000379239C9orf3chr9

97555200

+UBAP2chr9

33960876

-
5CDS-intronENST00000375315ENST00000539807C9orf3chr9

97555200

+UBAP2chr9

33960876

-
5CDS-intronENST00000375315ENST00000418786C9orf3chr9

97555200

+UBAP2chr9

33960876

-
5CDS-intronENST00000375315ENST00000379225C9orf3chr9

97555200

+UBAP2chr9

33960876

-
5CDS-intronENST00000375315ENST00000379235C9orf3chr9

97555200

+UBAP2chr9

33960876

-
5CDS-intronENST00000375315ENST00000480885C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-3CDSENST00000395357ENST00000449054C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-3CDSENST00000395357ENST00000379238C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-3CDSENST00000395357ENST00000360802C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-3CDSENST00000395357ENST00000379239C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-intronENST00000395357ENST00000539807C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-intronENST00000395357ENST00000418786C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-intronENST00000395357ENST00000379225C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-intronENST00000395357ENST00000379235C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-intronENST00000395357ENST00000480885C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-3CDSENST00000425634ENST00000449054C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-3CDSENST00000425634ENST00000379238C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-3CDSENST00000425634ENST00000360802C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-3CDSENST00000425634ENST00000379239C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-intronENST00000425634ENST00000539807C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-intronENST00000425634ENST00000418786C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-intronENST00000425634ENST00000379225C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-intronENST00000425634ENST00000379235C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-intronENST00000425634ENST00000480885C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-3CDSENST00000433691ENST00000449054C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-3CDSENST00000433691ENST00000379238C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-3CDSENST00000433691ENST00000360802C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-3CDSENST00000433691ENST00000379239C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-intronENST00000433691ENST00000539807C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-intronENST00000433691ENST00000418786C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-intronENST00000433691ENST00000379225C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-intronENST00000433691ENST00000379235C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-intronENST00000433691ENST00000480885C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-3CDSENST00000473778ENST00000449054C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-3CDSENST00000473778ENST00000379238C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-3CDSENST00000473778ENST00000360802C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-3CDSENST00000473778ENST00000379239C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-intronENST00000473778ENST00000539807C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-intronENST00000473778ENST00000418786C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-intronENST00000473778ENST00000379225C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-intronENST00000473778ENST00000379235C9orf3chr9

97555200

+UBAP2chr9

33960876

-
intron-intronENST00000473778ENST00000480885C9orf3chr9

97555200

+UBAP2chr9

33960876

-

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FusionProtFeatures for C9orf3_UBAP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C9orf3

UBAP2

Q5T6F2

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 C9orf3_UBAP2


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 C9orf3_UBAP2


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
C9orf3SUN2, LRRC40, ZDHHC17, TUBA4A, SUZ12, TUBB3UBAP2G3BP2, CUL3, UBAP2L, DLD, NUP50, VDAC1, TOMM40, PRDX5, ZFR, VPS29, THY1, S100A10, ZC3H14, ITCH, WWOX, FXR1, FUS, KLHL20, GLUL, QPCT, RBFOX2, CDKL5, NTRK1, CDH1, HSPBP1, HAO2, GORASP2, RAVER1, SCYL2, TRIM25, G3BP1, 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 C9orf3_UBAP2


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 C9orf3_UBAP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneC9orf3C0004238Atrial Fibrillation1CTD_human
HgeneC9orf3C0032927Precancerous Conditions1CTD_human
HgeneC9orf3C3495559Juvenile arthritis1CTD_human
TgeneUBAP2C0001973Alcoholic Intoxication, Chronic1PSYGENET