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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: 40522

FusionGeneSummary for UBE3C_DNAJB6

check button Fusion gene summary
Fusion gene informationFusion gene name: UBE3C_DNAJB6
Fusion gene ID: 40522
HgeneTgene
Gene symbol

UBE3C

DNAJB6

Gene ID

9690

10049

Gene nameubiquitin protein ligase E3CDnaJ heat shock protein family (Hsp40) member B6
SynonymsHECTH2DJ4|DnaJ|HHDJ1|HSJ-2|HSJ2|LGMD1D|LGMD1E|MRJ|MSJ-1
Cytomap

7q36.3

7q36.3

Type of geneprotein-codingprotein-coding
Descriptionubiquitin-protein ligase E3CHECT-type ubiquitin transferase E3Cubiquitin-protein isopeptide ligase (E3)dnaJ homolog subfamily B member 6DnaJ (Hsp40) homolog, subfamily B, member 6DnaJ-like 2 proteinheat shock protein J2
Modification date2018052320180529
UniProtAcc

Q15386

O75190

Ensembl transtripts involved in fusion geneENST00000348165, ENST00000389103, 
ENST00000429029, ENST00000262177, 
ENST00000452797, ENST00000443280, 
ENST00000494267, 
Fusion gene scores* DoF score10 X 11 X 8=8804 X 6 X 3=72
# samples 149
** MAII scorelog2(14/880*10)=-2.65207669657969
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/72*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: UBE3C [Title/Abstract] AND DNAJB6 [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

TgeneDNAJB6

GO:0006457

protein folding

11896048

TgeneDNAJB6

GO:0043154

negative regulation of cysteine-type endopeptidase activity involved in apoptotic process

11896048

TgeneDNAJB6

GO:0045109

intermediate filament organization

10954706

TgeneDNAJB6

GO:0090084

negative regulation of inclusion body assembly

21231916


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-A2-A0CM-01AUBE3Cchr7

156956557

+DNAJB6chr7

157155855

+
TCGALDBRCATCGA-A7-A0DA-01AUBE3Cchr7

157024021

+DNAJB6chr7

157151241

+
TCGALDBRCATCGA-AC-A6IW-01AUBE3Cchr7

156932032

+DNAJB6chr7

157174940

+
TCGALDOVTCGA-20-1683-01AUBE3Cchr7

156932032

+DNAJB6chr7

157151241

+
* 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-shiftENST00000348165ENST00000429029UBE3Cchr7

156956557

+DNAJB6chr7

157155855

+
Frame-shiftENST00000348165ENST00000262177UBE3Cchr7

156956557

+DNAJB6chr7

157155855

+
5CDS-intronENST00000348165ENST00000452797UBE3Cchr7

156956557

+DNAJB6chr7

157155855

+
5CDS-intronENST00000348165ENST00000443280UBE3Cchr7

156956557

+DNAJB6chr7

157155855

+
5CDS-intronENST00000348165ENST00000494267UBE3Cchr7

156956557

+DNAJB6chr7

157155855

+
intron-3CDSENST00000389103ENST00000429029UBE3Cchr7

156956557

+DNAJB6chr7

157155855

+
intron-3CDSENST00000389103ENST00000262177UBE3Cchr7

156956557

+DNAJB6chr7

157155855

+
intron-intronENST00000389103ENST00000452797UBE3Cchr7

156956557

+DNAJB6chr7

157155855

+
intron-intronENST00000389103ENST00000443280UBE3Cchr7

156956557

+DNAJB6chr7

157155855

+
intron-intronENST00000389103ENST00000494267UBE3Cchr7

156956557

+DNAJB6chr7

157155855

+
5CDS-5UTRENST00000348165ENST00000429029UBE3Cchr7

157024021

+DNAJB6chr7

157151241

+
5CDS-5UTRENST00000348165ENST00000262177UBE3Cchr7

157024021

+DNAJB6chr7

157151241

+
5CDS-5UTRENST00000348165ENST00000452797UBE3Cchr7

157024021

+DNAJB6chr7

157151241

+
5CDS-5UTRENST00000348165ENST00000443280UBE3Cchr7

157024021

+DNAJB6chr7

157151241

+
5CDS-intronENST00000348165ENST00000494267UBE3Cchr7

157024021

+DNAJB6chr7

157151241

+
intron-5UTRENST00000389103ENST00000429029UBE3Cchr7

157024021

+DNAJB6chr7

157151241

+
intron-5UTRENST00000389103ENST00000262177UBE3Cchr7

157024021

+DNAJB6chr7

157151241

+
intron-5UTRENST00000389103ENST00000452797UBE3Cchr7

157024021

+DNAJB6chr7

157151241

+
intron-5UTRENST00000389103ENST00000443280UBE3Cchr7

157024021

+DNAJB6chr7

157151241

+
intron-intronENST00000389103ENST00000494267UBE3Cchr7

157024021

+DNAJB6chr7

157151241

+
Frame-shiftENST00000348165ENST00000429029UBE3Cchr7

156932032

+DNAJB6chr7

157174940

+
Frame-shiftENST00000348165ENST00000262177UBE3Cchr7

156932032

+DNAJB6chr7

157174940

+
Frame-shiftENST00000348165ENST00000452797UBE3Cchr7

156932032

+DNAJB6chr7

157174940

+
5CDS-intronENST00000348165ENST00000443280UBE3Cchr7

156932032

+DNAJB6chr7

157174940

+
5CDS-intronENST00000348165ENST00000494267UBE3Cchr7

156932032

+DNAJB6chr7

157174940

+
Frame-shiftENST00000389103ENST00000429029UBE3Cchr7

156932032

+DNAJB6chr7

157174940

+
Frame-shiftENST00000389103ENST00000262177UBE3Cchr7

156932032

+DNAJB6chr7

157174940

+
Frame-shiftENST00000389103ENST00000452797UBE3Cchr7

156932032

+DNAJB6chr7

157174940

+
5CDS-intronENST00000389103ENST00000443280UBE3Cchr7

156932032

+DNAJB6chr7

157174940

+
5CDS-intronENST00000389103ENST00000494267UBE3Cchr7

156932032

+DNAJB6chr7

157174940

+
5CDS-5UTRENST00000348165ENST00000429029UBE3Cchr7

156932032

+DNAJB6chr7

157151241

+
5CDS-5UTRENST00000348165ENST00000262177UBE3Cchr7

156932032

+DNAJB6chr7

157151241

+
5CDS-5UTRENST00000348165ENST00000452797UBE3Cchr7

156932032

+DNAJB6chr7

157151241

+
5CDS-5UTRENST00000348165ENST00000443280UBE3Cchr7

156932032

+DNAJB6chr7

157151241

+
5CDS-intronENST00000348165ENST00000494267UBE3Cchr7

156932032

+DNAJB6chr7

157151241

+
5CDS-5UTRENST00000389103ENST00000429029UBE3Cchr7

156932032

+DNAJB6chr7

157151241

+
5CDS-5UTRENST00000389103ENST00000262177UBE3Cchr7

156932032

+DNAJB6chr7

157151241

+
5CDS-5UTRENST00000389103ENST00000452797UBE3Cchr7

156932032

+DNAJB6chr7

157151241

+
5CDS-5UTRENST00000389103ENST00000443280UBE3Cchr7

156932032

+DNAJB6chr7

157151241

+
5CDS-intronENST00000389103ENST00000494267UBE3Cchr7

156932032

+DNAJB6chr7

157151241

+

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FusionProtFeatures for UBE3C_DNAJB6


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

Q15386

DNAJB6

O75190

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}.

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 UBE3C_DNAJB6


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 UBE3C_DNAJB6


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, PCBP1DNAJB6KRT18, HDAC4, HDAC6, SIRT2, TP53, TP63, TP73, ALKBH1, UBC, MYC, PIK3CA, CUL3, CUL2, BRMS1, APP, SOX2, HDAC11, POLR1D, TARDBP, BAG1, BAG2, BAG3, BAG4, FKBP5, HSPA8, MLF2, STIP1, STUB1, FAM96A, FAM96B, HSPA1A, HSPA6, MAP3K1, MLF1, DNAJB2, C12orf45, HSPB8, NTRK1, CEP164, DYNLT1, XPO1, S100A4, MATR3, ESRRB, ZNF746, CYLD, TRIM25, ESR1


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 UBE3C_DNAJB6


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 UBE3C_DNAJB6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUBE3CC3495559Juvenile arthritis1CTD_human
TgeneDNAJB6C3148763MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E2ORPHANET;UNIPROT
TgeneDNAJB6C0686353Muscular Dystrophies, Limb-Girdle1CTD_human