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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: 16287

FusionGeneSummary for HIVEP2_RSPO3

check button Fusion gene summary
Fusion gene informationFusion gene name: HIVEP2_RSPO3
Fusion gene ID: 16287
HgeneTgene
Gene symbol

HIVEP2

RSPO3

Gene ID

3097

84870

Gene namehuman immunodeficiency virus type I enhancer binding protein 2R-spondin 3
SynonymsHIV-EP2|MBP-2|MIBP1|MRD43|SHN2|ZAS2|ZNF40BCRISTIN1|PWTSR|THSD2
Cytomap

6q24.2

6q22.33

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor HIVEP2MHC binding protein-2Schnurri-2c-myc intron binding protein 1R-spondin-3R-spondin 3 homologprotein with TSP type-1 repeatroof plate-specific spondin-3thrombospondin type-1 domain-containing protein 2thrombospondin, type I, domain containing 2
Modification date2018051920180523
UniProtAcc

P31629

Q9BXY4

Ensembl transtripts involved in fusion geneENST00000367604, ENST00000367603, 
ENST00000012134, ENST00000474532, 
ENST00000356698, ENST00000368317, 
ENST00000485757, 
Fusion gene scores* DoF score8 X 2 X 5=804 X 2 X 6=48
# samples 812
** MAII scorelog2(8/80*10)=0log2(12/48*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: HIVEP2 [Title/Abstract] AND RSPO3 [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

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
TCGALDSARCTCGA-DX-A8BL-01AHIVEP2chr6

143267081

-RSPO3chr6

127469793

+
* 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-3CDSENST00000367604ENST00000356698HIVEP2chr6

143267081

-RSPO3chr6

127469793

+
intron-3CDSENST00000367604ENST00000368317HIVEP2chr6

143267081

-RSPO3chr6

127469793

+
intron-3UTRENST00000367604ENST00000485757HIVEP2chr6

143267081

-RSPO3chr6

127469793

+
intron-3CDSENST00000367603ENST00000356698HIVEP2chr6

143267081

-RSPO3chr6

127469793

+
intron-3CDSENST00000367603ENST00000368317HIVEP2chr6

143267081

-RSPO3chr6

127469793

+
intron-3UTRENST00000367603ENST00000485757HIVEP2chr6

143267081

-RSPO3chr6

127469793

+
intron-3CDSENST00000012134ENST00000356698HIVEP2chr6

143267081

-RSPO3chr6

127469793

+
intron-3CDSENST00000012134ENST00000368317HIVEP2chr6

143267081

-RSPO3chr6

127469793

+
intron-3UTRENST00000012134ENST00000485757HIVEP2chr6

143267081

-RSPO3chr6

127469793

+
intron-3CDSENST00000474532ENST00000356698HIVEP2chr6

143267081

-RSPO3chr6

127469793

+
intron-3CDSENST00000474532ENST00000368317HIVEP2chr6

143267081

-RSPO3chr6

127469793

+
intron-3UTRENST00000474532ENST00000485757HIVEP2chr6

143267081

-RSPO3chr6

127469793

+

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FusionProtFeatures for HIVEP2_RSPO3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HIVEP2

P31629

RSPO3

Q9BXY4

This protein specifically binds to the DNA sequence 5'-GGGACTTTCC-3' which is found in the enhancer elements of numerousviral promoters such as those of SV40, CMV, or HIV1. In addition,related sequences are found in the enhancer elements of a numberof cellular promoters, including those of the class I MHC,interleukin-2 receptor, somatostatin receptor II, and interferon-beta genes. It may act in T-cell activation. Activator of the canonical Wnt signaling pathway byacting as a ligand for LGR4-6 receptors, which acts as a keyregulator of angiogenesis. Upon binding to LGR4-6 (LGR4, LGR5 orLGR6), LGR4-6 associate with phosphorylated LRP6 and frizzledreceptors that are activated by extracellular Wnt receptors,triggering the canonical Wnt signaling pathway to increaseexpression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling byacting as an inhibitor of ZNRF3, an important regulator of the Wntsignaling pathway. Acts as a ligand for frizzled FZD8 and LRP6.May negatively regulate the TGF-beta pathway (PubMed:21727895,PubMed:21909076, PubMed:22615920). Acts as a key regulator ofangiogenesis by controlling vascular stability and pruning: actsby activating the non-canonical Wnt signaling pathway inendothelial cells (By similarity). {ECO:0000250|UniProtKB:Q2TJ95,ECO:0000269|PubMed:21727895, ECO:0000269|PubMed:21909076,ECO:0000269|PubMed:22615920}.

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 HIVEP2_RSPO3


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 HIVEP2_RSPO3


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
HIVEP2BTRC, FBXW11, YWHAG, YWHAZ, YWHAE, NPM1, MTNR1ARSPO3LGR4, ZNRF3, DPY19L3


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 HIVEP2_RSPO3


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 HIVEP2_RSPO3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHIVEP2C0151744Myocardial Ischemia1CTD_human
TgeneRSPO3C1458155Mammary Neoplasms1CTD_human