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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: 40693

FusionGeneSummary for UFSP2_CCDC110

check button Fusion gene summary
Fusion gene informationFusion gene name: UFSP2_CCDC110
Fusion gene ID: 40693
HgeneTgene
Gene symbol

UFSP2

CCDC110

Gene ID

55325

256309

Gene nameUFM1 specific peptidase 2coiled-coil domain containing 110
SynonymsBHD|C4orf20|SEMDDRCT52|KM-HN-1|KMHN1
Cytomap

4q35.1

4q35.1

Type of geneprotein-codingprotein-coding
Descriptionufm1-specific protease 2coiled-coil domain-containing protein 110cancer/testis antigen 52cancer/testis antigen KM-HN-1
Modification date2018052620180519
UniProtAcc

Q9NUQ7

Q8TBZ0

Ensembl transtripts involved in fusion geneENST00000264689, ENST00000502282, 
ENST00000393540, ENST00000307588, 
ENST00000510617, ENST00000507501, 
Fusion gene scores* DoF score3 X 2 X 3=183 X 4 X 3=36
# samples 34
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: UFSP2 [Title/Abstract] AND CCDC110 [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

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
TCGARVLIHCTCGA-DD-AAVP-01AUFSP2chr4

186334880

-CCDC110chr4

186366696

-
* 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
In-frameENST00000264689ENST00000393540UFSP2chr4

186334880

-CCDC110chr4

186366696

-
Frame-shiftENST00000264689ENST00000307588UFSP2chr4

186334880

-CCDC110chr4

186366696

-
5CDS-intronENST00000264689ENST00000510617UFSP2chr4

186334880

-CCDC110chr4

186366696

-
5CDS-intronENST00000264689ENST00000507501UFSP2chr4

186334880

-CCDC110chr4

186366696

-
intron-3CDSENST00000502282ENST00000393540UFSP2chr4

186334880

-CCDC110chr4

186366696

-
intron-3CDSENST00000502282ENST00000307588UFSP2chr4

186334880

-CCDC110chr4

186366696

-
intron-intronENST00000502282ENST00000510617UFSP2chr4

186334880

-CCDC110chr4

186366696

-
intron-intronENST00000502282ENST00000507501UFSP2chr4

186334880

-CCDC110chr4

186366696

-

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FusionProtFeatures for UFSP2_CCDC110


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UFSP2

Q9NUQ7

CCDC110

Q8TBZ0

Thiol protease which recognizes and hydrolyzes thepeptide bond at the C-terminal Gly of UFM1, a ubiquitin-likemodifier protein bound to a number of target proteins. Does nothydrolyze SUMO1 or ISG15 ubiquitin-like proteins. Through TRIP4deufmylation may regulate intracellular nuclear receptorstransactivation and thereby regulate cell proliferation anddifferentiation. {ECO:0000269|PubMed:25219498}.

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
TgeneCCDC110chr4:186334880chr4:186366696ENST00000307588-57431_778820834Coiled coilOntology_term=ECO:0000255
TgeneCCDC110chr4:186334880chr4:186366696ENST00000393540-46431_778783797Coiled coilOntology_term=ECO:0000255


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FusionGeneSequence for UFSP2_CCDC110


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 UFSP2_CCDC110


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
UFSP2LIG4, ASCC1, FAS, HLA-C, CD244, SLAMF1, FAM177A1, SORT1, SYNCRIP, CDHR5, ASIC1, ARFGAP1, AMIGO3, CD79A, KCNJ6, ASIC4, CPD, NAPG, VAT1L, PLXDC2, PCDHA4, KIR3DL2, SIGLEC12, VASN, TMX1, SLC16A11, SIGLEC5, C1orf27CCDC110CUL3, CAND1, DEPTOR, XDH


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 UFSP2_CCDC110


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 UFSP2_CCDC110


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUFSP2C1840572HIP DYSPLASIA, BEUKES TYPE1ORPHANET;UNIPROT