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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: 40592

FusionGeneSummary for UBR2_PXT1

check button Fusion gene summary
Fusion gene informationFusion gene name: UBR2_PXT1
Fusion gene ID: 40592
HgeneTgene
Gene symbol

UBR2

PXT1

Gene ID

23304

222659

Gene nameubiquitin protein ligase E3 component n-recognin 2peroxisomal testis enriched protein 1
SynonymsC6orf133|bA49A4.1|dJ242G1.1|dJ392M17.3STEPP
Cytomap

6p21.1

6p21.31

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase UBR2RING-type E3 ubiquitin transferase UBR2ubiquitin-protein ligase E3-alpha-2ubiquitin-protein ligase E3-alpha-IIperoxisomal testis-specific protein 1peroxisomal, testis specific 1small testis-specific peroxisomal protein
Modification date2018052920180523
UniProtAcc

Q8IWV8

Q8NFP0

Ensembl transtripts involved in fusion geneENST00000372899, ENST00000372901, 
ENST00000372883, ENST00000372903, 
ENST00000454782, 
Fusion gene scores* DoF score9 X 9 X 6=4864 X 3 X 4=48
# samples 94
** MAII scorelog2(9/486*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UBR2 [Title/Abstract] AND PXT1 [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
HgeneUBR2

GO:0071233

cellular response to leucine

20298436


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
TCGARVACCTCGA-OR-A5JY-01AUBR2chr6

42641931

+PXT1chr6

36368361

-
* 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-shiftENST00000372899ENST00000454782UBR2chr6

42641931

+PXT1chr6

36368361

-
Frame-shiftENST00000372901ENST00000454782UBR2chr6

42641931

+PXT1chr6

36368361

-
3UTR-3CDSENST00000372883ENST00000454782UBR2chr6

42641931

+PXT1chr6

36368361

-
intron-3CDSENST00000372903ENST00000454782UBR2chr6

42641931

+PXT1chr6

36368361

-

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FusionProtFeatures for UBR2_PXT1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UBR2

Q8IWV8

PXT1

Q8NFP0

E3 ubiquitin-protein ligase which is a component of theN-end rule pathway. Recognizes and binds to proteins bearingspecific N-terminal residues that are destabilizing according tothe N-end rule, leading to their ubiquitination and subsequentdegradation. Plays a critical role in chromatin inactivation andchromosome-wide transcriptional silencing during meiosis viaubiquitination of histone H2A. Binds leucine and is a negativeregulator of the leucine-mTOR signaling pathway, therebycontrolling cell growth. Required for spermatogenesis, promotes,with Tex19.1, SPO11-dependent recombination foci to accumulate anddrive robust homologous chromosome synapsis (By similarity).Polyubiquitinates LINE-1 retrotransposon encoded, LIRE1, whichinduces degradation, inhibiting LINE-1 retranstoposon mobilization(By similarity). {ECO:0000250|UniProtKB:Q6WKZ8,ECO:0000269|PubMed:15548684, ECO:0000269|PubMed:20298436,ECO:0000269|PubMed:20835242}.

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 UBR2_PXT1


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 UBR2_PXT1


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
UBR2UBE2B, HNRNPA1, UBC, HIST2H2AC, MYC, UBXN7, FAF2, FAF1, UBXN1, UBE2Z, TIRAP, HIST1H2BG, RECQL4, UBE2H, GCFC2, NXPH2, NUDT6, MRM1, POLR2M, SOD2, PLEKHO2, PAM, PLXDC2, TEX33, PON2, UBE2A, CLCC1, METTL15, ALDH18A1, EPPK1, PDP2, EPHA7, SNX18, NDUFS3, PSMC2, NES, MRPL50, PARD6B, SGOL1, FOXJ3, UBXN2B, BAG6, DUSP26, NRP1, SPINK2, HS3ST2, INSL5, SMOC1, HYAL1, GFAP, SIL1, RGS8, CROCC, PAK7, ASB6, CRHBP, HEPACAM2, CCDC130, PNLIPRP1, METTL2A, BRCA1PXT1


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 UBR2_PXT1


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 UBR2_PXT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource