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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: 40455

FusionGeneSummary for UBE2K_UCHL1

check button Fusion gene summary
Fusion gene informationFusion gene name: UBE2K_UCHL1
Fusion gene ID: 40455
HgeneTgene
Gene symbol

UBE2K

UCHL1

Gene ID

3093

7345

Gene nameubiquitin conjugating enzyme E2 Kubiquitin C-terminal hydrolase L1
SynonymsE2-25K|HIP2|HYPG|LIG|UBC1HEL-117|HEL-S-53|NDGOA|PARK5|PGP 9.5|PGP9.5|PGP95|SPG79|Uch-L1
Cytomap

4p14

4p13

Type of geneprotein-codingprotein-coding
Descriptionubiquitin-conjugating enzyme E2 KE2 ubiquitin-conjugating enzyme KE2(25K)HIP-2huntingtin-interacting protein 2ubiquitin carrier proteinubiquitin conjugating enzyme E2Kubiquitin-conjugating enzyme E2(25K)ubiquitin-conjugating enzyme E2-25 KDAubiquubiquitin carboxyl-terminal hydrolase isozyme L1epididymis luminal protein 117epididymis secretory protein Li 53neuron cytoplasmic protein 9.5ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)ubiquitin thioesterase L1ubiquitin thioles
Modification date2018052320180527
UniProtAcc

P61086

P09936

Ensembl transtripts involved in fusion geneENST00000261427, ENST00000295963, 
ENST00000438068, ENST00000503368, 
ENST00000445950, 
ENST00000503431, 
ENST00000284440, ENST00000504818, 
ENST00000508768, ENST00000512788, 
Fusion gene scores* DoF score9 X 6 X 9=4863 X 5 X 6=90
# samples 106
** MAII scorelog2(10/486*10)=-2.28095631383106
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UBE2K [Title/Abstract] AND UCHL1 [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
HgeneUBE2K

GO:0010800

positive regulation of peptidyl-threonine phosphorylation

24882218

HgeneUBE2K

GO:0010994

free ubiquitin chain polymerization

24882218

HgeneUBE2K

GO:0070936

protein K48-linked ubiquitination

20061386

TgeneUCHL1

GO:0016579

protein deubiquitination

9521656

TgeneUCHL1

GO:0043407

negative regulation of MAP kinase activity

19477270


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
TCGALDKIRPTCGA-GL-7966-01AUBE2Kchr4

39700010

+UCHL1chr4

41258610

+
* 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-intronENST00000261427ENST00000503431UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
5CDS-intronENST00000261427ENST00000284440UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
5CDS-intronENST00000261427ENST00000504818UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
5CDS-intronENST00000261427ENST00000508768UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
5CDS-intronENST00000261427ENST00000512788UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
5CDS-intronENST00000295963ENST00000503431UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
5CDS-intronENST00000295963ENST00000284440UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
5CDS-intronENST00000295963ENST00000504818UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
5CDS-intronENST00000295963ENST00000508768UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
5CDS-intronENST00000295963ENST00000512788UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
intron-intronENST00000438068ENST00000503431UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
intron-intronENST00000438068ENST00000284440UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
intron-intronENST00000438068ENST00000504818UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
intron-intronENST00000438068ENST00000508768UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
intron-intronENST00000438068ENST00000512788UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
5CDS-intronENST00000503368ENST00000503431UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
5CDS-intronENST00000503368ENST00000284440UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
5CDS-intronENST00000503368ENST00000504818UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
5CDS-intronENST00000503368ENST00000508768UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
5CDS-intronENST00000503368ENST00000512788UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
5CDS-intronENST00000445950ENST00000503431UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
5CDS-intronENST00000445950ENST00000284440UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
5CDS-intronENST00000445950ENST00000504818UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
5CDS-intronENST00000445950ENST00000508768UBE2Kchr4

39700010

+UCHL1chr4

41258610

+
5CDS-intronENST00000445950ENST00000512788UBE2Kchr4

39700010

+UCHL1chr4

41258610

+

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FusionProtFeatures for UBE2K_UCHL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UBE2K

P61086

UCHL1

P09936

Ubiquitin-protein hydrolase involved both in theprocessing of ubiquitin precursors and of ubiquitinated proteins.This enzyme is a thiol protease that recognizes and hydrolyzes apeptide bond at the C-terminal glycine of ubiquitin. Also binds tofree monoubiquitin and may prevent its degradation in lysosomes.The homodimer may have ATP-independent ubiquitin ligase activity.{ECO:0000269|PubMed:12408865, ECO:0000269|PubMed:9790970}.

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 UBE2K_UCHL1


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 UBE2K_UCHL1


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
UBE2KDSTYK, HTT, RNF2, UBE2I, DDX58, RNF125, RNF138, BFAR, UBOX5, RNF5, DTX3, MARCH7, SIAH1, TRIM27, RNF185, TRIM35, BIRC7, BIRC8, RNF4, TRIM34, RNF167, UHRF2, TRAF7, MKRN2, TRAIP, RING1, RNF41, MARCH3, RNF32, RNF114, LRSAM1, CBLC, DTX3L, DZIP3, MID1, MKRN3, TRIM39, RNF111, RNF144A, TRIM2, TRIM31, TRIM43, TRIM5, RBCK1, ITSN1, PRPF40A, CCNB1, DIABLO, BRCA1, UBC, CASP12, PIAS4, NUB1, NXF1, FZR1, NEDD4L, WWP2, ITCH, WDR1, WDR61, TXNDC17, TYMS, TXN, ANAPC11, IQCB1, BAG3, UBA1, TP53, MDM2, CDC6, PRRG4, REL, MIPOL1, DDI1, ZDHHC17, AMFR, BARD1, SENP1, MAP3K1, HNRNPA1, UBE2D2, RAB1A, TMEM189-UBE2V1, UBE2V1, UBE2N, RC3H2, TRIM63, SMURF1, CYHR1, ARL15, USP1, DLDUCHL1CBX1, NEDD8, UBC, UBE2I, RANBP9, COPS5, CDKN1B, TP53, KRT4, KRT17, USP21, CCDC14, EGFR, CTNNB1, SMN1, MDM2, CDKN2A, TUBA1A, TERF2IP, TINF2, LAMP2, HSPA8, HSP90AA1, CDK2, ADRA2A, ADRA2B, ADRA2C, ADRB2, AKT1, NCAM1, TRIM63, TRIM54, USP15, USP28, WDR82, DDB1, RPTOR, IQCB1, CDK1, CDK4, CDK5, CDK6, PMAIP1, TRAF3, TRAF6, NMRAL1, TNFRSF1A, ERN1, PLA2G2A, PARK2, CUL7, NTRK1, APP, DERL1, DLST, SOD1, AKT2, TERF2


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 UBE2K_UCHL1


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 UBE2K_UCHL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneUCHL1C3150899PARKINSON DISEASE 5, AUTOSOMAL DOMINANT4CTD_human;UNIPROT
TgeneUCHL1C0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneUCHL1C0014859Esophageal Neoplasms1CTD_human
TgeneUCHL1C0016978gallbladder neoplasm1CTD_human
TgeneUCHL1C0019284Diaphragmatic Hernia1CTD_human
TgeneUCHL1C0031117Peripheral Neuropathy1CTD_human
TgeneUCHL1C2239176Liver carcinoma1CTD_human
TgeneUCHL1C3809665NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD-ONSET1ORPHANET;UNIPROT