FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 40520

FusionGeneSummary for UBE3C_C1D

check button Fusion gene summary
Fusion gene informationFusion gene name: UBE3C_C1D
Fusion gene ID: 40520
HgeneTgene
Gene symbol

UBE3C

C1D

Gene ID

9690

10438

Gene nameubiquitin protein ligase E3CC1D nuclear receptor corepressor
SynonymsHECTH2LRP1|Rrp47|SUN-CoR|SUNCOR|hC1D
Cytomap

7q36.3

2p14

Type of geneprotein-codingprotein-coding
Descriptionubiquitin-protein ligase E3CHECT-type ubiquitin transferase E3Cubiquitin-protein isopeptide ligase (E3)nuclear nucleic acid-binding protein C1DC1D DNA-binding proteinC1D nuclear receptor co-repressornuclear DNA-binding proteinsmall unique nuclear receptor co-repressorsmall unique nuclear receptor corepressor
Modification date2018052320180519
UniProtAcc

Q15386

Q13901

Ensembl transtripts involved in fusion geneENST00000348165, ENST00000389103, 
ENST00000355848, ENST00000407324, 
ENST00000410067, ENST00000409302, 
ENST00000470189, 
Fusion gene scores* DoF score10 X 11 X 8=8804 X 3 X 3=36
# samples 144
** MAII scorelog2(14/880*10)=-2.65207669657969
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
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: UBE3C [Title/Abstract] AND C1D [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
HgeneUBE3C

GO:0000209

protein polyubiquitination

11278995


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
TCGALDCESCTCGA-VS-A959-01AUBE3Cchr7

156976723

+C1Dchr2

68274451

-
* 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
5CDS-5UTRENST00000348165ENST00000355848UBE3Cchr7

156976723

+C1Dchr2

68274451

-
5CDS-5UTRENST00000348165ENST00000407324UBE3Cchr7

156976723

+C1Dchr2

68274451

-
5CDS-5UTRENST00000348165ENST00000410067UBE3Cchr7

156976723

+C1Dchr2

68274451

-
5CDS-5UTRENST00000348165ENST00000409302UBE3Cchr7

156976723

+C1Dchr2

68274451

-
5CDS-5UTRENST00000348165ENST00000470189UBE3Cchr7

156976723

+C1Dchr2

68274451

-
5CDS-5UTRENST00000389103ENST00000355848UBE3Cchr7

156976723

+C1Dchr2

68274451

-
5CDS-5UTRENST00000389103ENST00000407324UBE3Cchr7

156976723

+C1Dchr2

68274451

-
5CDS-5UTRENST00000389103ENST00000410067UBE3Cchr7

156976723

+C1Dchr2

68274451

-
5CDS-5UTRENST00000389103ENST00000409302UBE3Cchr7

156976723

+C1Dchr2

68274451

-
5CDS-5UTRENST00000389103ENST00000470189UBE3Cchr7

156976723

+C1Dchr2

68274451

-

Top

FusionProtFeatures for UBE3C_C1D


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UBE3C

Q15386

C1D

Q13901

E3 ubiquitin-protein ligase that accepts ubiquitin fromthe E2 ubiquitin-conjugating enzyme UBE2D1 in the form of athioester and then directly transfers the ubiquitin to targetedsubstrates. Can assemble unanchored poly-ubiquitin chains ineither 'Lys-29'- or 'Lys-48'-linked polyubiquitin chains. Haspreference for 'Lys-48' linkages. It can target itself forubiquitination in vitro and may promote its own degradation invivo. {ECO:0000269|PubMed:11278995, ECO:0000269|PubMed:12692129,ECO:0000269|PubMed:16341092, ECO:0000269|PubMed:16601690}. Plays a role in the recruitment of the RNA exosomecomplex to pre-rRNA to mediate the 3'-5' end processing of the5.8S rRNA; this function may include MPHOSPH6. Can activate PRKDCnot only in the presence of linear DNA but also in the presence ofsupercoiled DNA. Can induce apoptosis in a p53/TP53 dependentmanner. May regulate the TRAX/TSN complex formation. Potentiatestranscriptional repression by NR1D1 and THRB (By similarity).{ECO:0000250, ECO:0000269|PubMed:10362552,ECO:0000269|PubMed:11801738, ECO:0000269|PubMed:17412707,ECO:0000269|PubMed:9679063}.

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


Top

FusionGeneSequence for UBE3C_C1D


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).

Top

FusionGenePPI for UBE3C_C1D


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
UBE3CPSMD2, PSMC5, PSMD6, CAND2, MYC, RAD21, ELAVL1, UBC, PSMA2, UBE3C, UBE2D1, UBE2L3, APP, THOC2, RBM15, THOC7, WDR74, KDM1A, PHKA2, CPEB4, USP13, UTRN, ECT2, MTA2, TLK1, EEF2K, PANK4, WDR92, SHFM1, PSMD14, GOLGA2, UBE2D2, EFNB2, VSIG4, SCN2B, NTRK1, ANXA7, UBE2D3, ESR1, CCNB1, FAF2, FAM3C, KIAA1467, TRIM25, MTA1, PCBP1C1DPRKDC, TSNAX, PCBD2, APP, NCOR1, NCOR2, NR1D1, THRA, THRB, IL23R, EXOSC3, EXOSC7, EXOSC8, EXOSC9, EXOSC5, EXOSC1, EXOSC10, MPHOSPH6, EXOSC4, RBM7, EXOSC2, WDR43, ZFC3H1, UTP15, ZCCHC8, EXOSC6, DIS3, WDR75, SKIV2L2, CST1, NOL11


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


Top

RelatedDrugs for UBE3C_C1D


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

Top

RelatedDiseases for UBE3C_C1D


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUBE3CC3495559Juvenile arthritis1CTD_human
TgeneC1DC0001973Alcoholic Intoxication, Chronic1PSYGENET