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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: 40497

FusionGeneSummary for UBE2V1_DHTKD1

check button Fusion gene summary
Fusion gene informationFusion gene name: UBE2V1_DHTKD1
Fusion gene ID: 40497
HgeneTgene
Gene symbol

UBE2V1

DHTKD1

Gene ID

7335

55526

Gene nameubiquitin conjugating enzyme E2 V1dehydrogenase E1 and transketolase domain containing 1
SynonymsCIR1|CROC-1|CROC1|UBE2V|UEV-1|UEV1|UEV1AAMOXAD|CMT2Q
Cytomap

20q13.13

10p14

Type of geneprotein-codingprotein-coding
Descriptionubiquitin-conjugating enzyme E2 variant 1DNA-binding proteinTRAF6-regulated IKK activator 1 beta Uev1Aprobable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrialdehydrogenase E1 and transketolase domain-containing protein 1
Modification date2018052320180523
UniProtAcc

Q13404

Q96HY7

Ensembl transtripts involved in fusion geneENST00000371657, ENST00000396059, 
ENST00000371674, ENST00000371677, 
ENST00000340309, ENST00000420027, 
ENST00000415862, 
ENST00000263035, 
ENST00000465617, 
Fusion gene scores* DoF score9 X 11 X 2=1984 X 4 X 2=32
# samples 224
** MAII scorelog2(22/198*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
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: UBE2V1 [Title/Abstract] AND DHTKD1 [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
HgeneUBE2V1

GO:0070534

protein K63-linked ubiquitination

16307917|21512573


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
ChiTaRS3.1CB134342UBE2V1chr20

48698608

+DHTKD1chr10

12164419

+
* 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
intron-3UTRENST00000371657ENST00000263035UBE2V1chr20

48698608

+DHTKD1chr10

12164419

+
intron-intronENST00000371657ENST00000465617UBE2V1chr20

48698608

+DHTKD1chr10

12164419

+
intron-3UTRENST00000396059ENST00000263035UBE2V1chr20

48698608

+DHTKD1chr10

12164419

+
intron-intronENST00000396059ENST00000465617UBE2V1chr20

48698608

+DHTKD1chr10

12164419

+
intron-3UTRENST00000371674ENST00000263035UBE2V1chr20

48698608

+DHTKD1chr10

12164419

+
intron-intronENST00000371674ENST00000465617UBE2V1chr20

48698608

+DHTKD1chr10

12164419

+
intron-3UTRENST00000371677ENST00000263035UBE2V1chr20

48698608

+DHTKD1chr10

12164419

+
intron-intronENST00000371677ENST00000465617UBE2V1chr20

48698608

+DHTKD1chr10

12164419

+
intron-3UTRENST00000340309ENST00000263035UBE2V1chr20

48698608

+DHTKD1chr10

12164419

+
intron-intronENST00000340309ENST00000465617UBE2V1chr20

48698608

+DHTKD1chr10

12164419

+
intron-3UTRENST00000420027ENST00000263035UBE2V1chr20

48698608

+DHTKD1chr10

12164419

+
intron-intronENST00000420027ENST00000465617UBE2V1chr20

48698608

+DHTKD1chr10

12164419

+
intron-3UTRENST00000415862ENST00000263035UBE2V1chr20

48698608

+DHTKD1chr10

12164419

+
intron-intronENST00000415862ENST00000465617UBE2V1chr20

48698608

+DHTKD1chr10

12164419

+

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FusionProtFeatures for UBE2V1_DHTKD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UBE2V1

Q13404

DHTKD1

Q96HY7

The 2-oxoglutarate dehydrogenase complex catalyzes theoverall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). Itcontains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamidesuccinyltransferase (E2) and lipoamide dehydrogenase (E3) (Bysimilarity). {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 UBE2V1_DHTKD1


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 UBE2V1_DHTKD1


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


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 UBE2V1_DHTKD1


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 UBE2V1_DHTKD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneDHTKD1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneDHTKD1C18598172-AMINOADIPIC 2-OXOADIPIC ACIDURIA1ORPHANET;UNIPROT