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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: 12281

FusionGeneSummary for EXOC4_UBR2

check button Fusion gene summary
Fusion gene informationFusion gene name: EXOC4_UBR2
Fusion gene ID: 12281
HgeneTgene
Gene symbol

EXOC4

UBR2

Gene ID

60412

23304

Gene nameexocyst complex component 4ubiquitin protein ligase E3 component n-recognin 2
SynonymsSEC8|SEC8L1|Sec8pC6orf133|bA49A4.1|dJ242G1.1|dJ392M17.3
Cytomap

7q33

6p21.1

Type of geneprotein-codingprotein-coding
Descriptionexocyst complex component 4SEC8-like 1exocyst complex component Sec8E3 ubiquitin-protein ligase UBR2RING-type E3 ubiquitin transferase UBR2ubiquitin-protein ligase E3-alpha-2ubiquitin-protein ligase E3-alpha-II
Modification date2018052320180529
UniProtAcc

Q96A65

Q8IWV8

Ensembl transtripts involved in fusion geneENST00000253861, ENST00000539845, 
ENST00000393161, ENST00000545148, 
ENST00000460346, ENST00000541309, 
ENST00000372899, ENST00000372901, 
ENST00000372883, ENST00000372903, 
Fusion gene scores* DoF score17 X 13 X 8=17689 X 9 X 8=648
# samples 1611
** MAII scorelog2(16/1768*10)=-3.46597446450407
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/648*10)=-2.55849028935997
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EXOC4 [Title/Abstract] AND UBR2 [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
TgeneUBR2

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
ChiTaRS3.1AK001118EXOC4chr7

133186937

+UBR2chr6

42580839

+
* 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-intronENST00000253861ENST00000372899EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000253861ENST00000372901EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000253861ENST00000372883EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000253861ENST00000372903EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000539845ENST00000372899EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000539845ENST00000372901EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000539845ENST00000372883EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000539845ENST00000372903EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000393161ENST00000372899EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000393161ENST00000372901EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000393161ENST00000372883EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000393161ENST00000372903EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000545148ENST00000372899EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000545148ENST00000372901EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000545148ENST00000372883EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000545148ENST00000372903EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000460346ENST00000372899EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000460346ENST00000372901EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000460346ENST00000372883EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000460346ENST00000372903EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000541309ENST00000372899EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000541309ENST00000372901EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000541309ENST00000372883EXOC4chr7

133186937

+UBR2chr6

42580839

+
intron-intronENST00000541309ENST00000372903EXOC4chr7

133186937

+UBR2chr6

42580839

+

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FusionProtFeatures for EXOC4_UBR2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EXOC4

Q96A65

UBR2

Q8IWV8

Component of the exocyst complex involved in the dockingof exocytic vesicles with fusion sites on the plasma membrane.{ECO:0000250}. 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 EXOC4_UBR2


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 EXOC4_UBR2


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 EXOC4_UBR2


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 EXOC4_UBR2


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