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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: 40308

FusionGeneSummary for UBA2_PEPD

check button Fusion gene summary
Fusion gene informationFusion gene name: UBA2_PEPD
Fusion gene ID: 40308
HgeneTgene
Gene symbol

UBA2

PEPD

Gene ID

10054

5184

Gene nameubiquitin like modifier activating enzyme 2peptidase D
SynonymsARX|HRIHFB2115|SAE2PROLIDASE
Cytomap

19q13.11

19q13.11

Type of geneprotein-codingprotein-coding
DescriptionSUMO-activating enzyme subunit 2SUMO-1 activating enzyme subunit 2SUMO1 activating enzyme subunit 2UBA2, ubiquitin-activating enzyme E1 homologanthracycline-associated resistance ARXubiquitin-like 1-activating enzyme E1Bxaa-Pro dipeptidaseX-Pro dipeptidaseaminoacyl-L-proline hydrolaseimidodipeptidaseproline dipeptidasetesticular tissue protein Li 138
Modification date2018052320180519
UniProtAcc

Q9UBT2

P12955

Ensembl transtripts involved in fusion geneENST00000246548, ENST00000439527, 
ENST00000592791, ENST00000588585, 
ENST00000244137, ENST00000397032, 
ENST00000436370, ENST00000591968, 
Fusion gene scores* DoF score10 X 7 X 7=49011 X 7 X 9=693
# samples 1011
** MAII scorelog2(10/490*10)=-2.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/693*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UBA2 [Title/Abstract] AND PEPD [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
HgeneUBA2

GO:0016925

protein sumoylation

20164921


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-AO-A0J4-01AUBA2chr19

34919475

+PEPDchr19

33904549

-
* 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-shiftENST00000246548ENST00000244137UBA2chr19

34919475

+PEPDchr19

33904549

-
Frame-shiftENST00000246548ENST00000397032UBA2chr19

34919475

+PEPDchr19

33904549

-
Frame-shiftENST00000246548ENST00000436370UBA2chr19

34919475

+PEPDchr19

33904549

-
5CDS-intronENST00000246548ENST00000591968UBA2chr19

34919475

+PEPDchr19

33904549

-
intron-3CDSENST00000439527ENST00000244137UBA2chr19

34919475

+PEPDchr19

33904549

-
intron-3CDSENST00000439527ENST00000397032UBA2chr19

34919475

+PEPDchr19

33904549

-
intron-3CDSENST00000439527ENST00000436370UBA2chr19

34919475

+PEPDchr19

33904549

-
intron-intronENST00000439527ENST00000591968UBA2chr19

34919475

+PEPDchr19

33904549

-
intron-3CDSENST00000592791ENST00000244137UBA2chr19

34919475

+PEPDchr19

33904549

-
intron-3CDSENST00000592791ENST00000397032UBA2chr19

34919475

+PEPDchr19

33904549

-
intron-3CDSENST00000592791ENST00000436370UBA2chr19

34919475

+PEPDchr19

33904549

-
intron-intronENST00000592791ENST00000591968UBA2chr19

34919475

+PEPDchr19

33904549

-
intron-3CDSENST00000588585ENST00000244137UBA2chr19

34919475

+PEPDchr19

33904549

-
intron-3CDSENST00000588585ENST00000397032UBA2chr19

34919475

+PEPDchr19

33904549

-
intron-3CDSENST00000588585ENST00000436370UBA2chr19

34919475

+PEPDchr19

33904549

-
intron-intronENST00000588585ENST00000591968UBA2chr19

34919475

+PEPDchr19

33904549

-

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FusionProtFeatures for UBA2_PEPD


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UBA2

Q9UBT2

PEPD

P12955

The heterodimer acts as an E1 ligase for SUMO1, SUMO2,SUMO3, and probably SUMO4. It mediates ATP-dependent activation ofSUMO proteins followed by formation of a thioester bond between aSUMO protein and a conserved active site cysteine residue onUBA2/SAE2. {ECO:0000269|PubMed:11451954,ECO:0000269|PubMed:11481243, ECO:0000269|PubMed:15660128,ECO:0000269|PubMed:17643372, ECO:0000269|PubMed:19443651,ECO:0000269|PubMed:20164921}.

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 UBA2_PEPD


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 UBA2_PEPD


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
UBA2SAE1, UBE2I, SUMO1, BRIX1, NEDD8, SUMO2, SUMO3, ETV4, SERBP1, PARK7, UBQLN2, THADA, CHMP5, AHCYL1, SRSF2, SEPHS2, TRIP6, UNK, ZFYVE19, USP34, YAP1, NAP1L1, RPS15A, SULT1A1, UBE2B, KIAA1598, STMN2, TACC3, CLNS1A, SNCG, TLE3, TTC9C, MYL1, TOM1L2, SRXN1, ATP6V1B2, BAG3, CALU, CTSC, P4HB, PDE12, PDLIM5, RAD23B, SSB, TCEAL4, ARIH1, CBS, EHD4, IREB2, NPLOC4, PKM, PLIN3, RABGGTA, SRP14, ZPR1, UBC, EGFR, SUMO1P1, FOXK1, PSMA3, PSMA4, PSMB3, CLIC4, HSPB1, PCF11, PSMA1, PSMA2, PSMA5, PSMB4, WDR11, NTRK1, MYC, CEP162, LCA5, OFD1, WAS, RANBP2, CHEK1, DERL1, CPNE5, HSD17B10, EDEM3, TRIM25PEPDTERF1, CUL2, ATXN1, SPP1, ASS1, BCCIP, CAPN1, CASP7, DLD, DPP3, EIF5A, FTO, GBP2, GDA, GINS2, GLS, GNS, LDHAL6B, MVD, NDRG1, CNDP2, EIF4E, EIF6, GSR, KYNU, NAMPT, NHLRC2, CTSA, RPS6KA1, USP7, MOV10, NXF1, GOT1, HSPE1, LDHA, LDHB, RPIA, SOD2, PSMG4, TANGO2


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 UBA2_PEPD


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 UBA2_PEPD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePEPDC0268532Deficiency of prolidase5CTD_human;ORPHANET;UNIPROT
TgenePEPDC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgenePEPDC0019209Hepatomegaly1CTD_human;HPO
TgenePEPDC0035242Respiratory Tract Diseases1CTD_human
TgenePEPDC0037299Skin Ulcer1CTD_human;HPO
TgenePEPDC0038002Splenomegaly1CTD_human;HPO
TgenePEPDC0700359Organophosphate poisoning1CTD_human
TgenePEPDC3714514Infection1CTD_human