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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: 16290

FusionGeneSummary for HIVEP3_APOC1

check button Fusion gene summary
Fusion gene informationFusion gene name: HIVEP3_APOC1
Fusion gene ID: 16290
HgeneTgene
Gene symbol

HIVEP3

APOC1

Gene ID

59269

341

Gene namehuman immunodeficiency virus type I enhancer binding protein 3apolipoprotein C1
SynonymsKBP-1|KBP1|KRC|SHN3|Schnurri-3|ZAS3|ZNF40CApo-CI|ApoC-I|apo-CIB|apoC-IB
Cytomap

1p34.2

19q13.32

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor HIVEP3ZAS family, member 3kappa-B and V(D)J recombination signal sequences-binding proteinkappa-binding protein 1zinc finger protein ZAS3apolipoprotein C-I
Modification date2018052320180519
UniProtAcc

Q5T1R4

P02654

Ensembl transtripts involved in fusion geneENST00000372583, ENST00000372584, 
ENST00000247584, ENST00000429157, 
ENST00000460604, 		ENST00000588750, 
ENST00000588802, ENST00000252491, 
ENST00000592885, ENST00000589781, 
ENST00000586638, 
Fusion gene scores* DoF score11 X 11 X 5=6051 X 1 X 1=1
# samples 121
** MAII scorelog2(12/605*10)=-2.33390073655344
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: HIVEP3 [Title/Abstract] AND APOC1 [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
HgeneHIVEP3

GO:0045893

positive regulation of transcription, DNA-templated

15790681

TgeneAPOC1

GO:0010900

negative regulation of phosphatidylcholine catabolic process

2302419

TgeneAPOC1

GO:0010916

negative regulation of very-low-density lipoprotein particle clearance

1917954

TgeneAPOC1

GO:0032375

negative regulation of cholesterol transport

10978346

TgeneAPOC1

GO:0033344

cholesterol efflux

11162594

TgeneAPOC1

GO:0033700

phospholipid efflux

11162594

TgeneAPOC1

GO:0034369

plasma lipoprotein particle remodeling

10978346

TgeneAPOC1

GO:0034382

chylomicron remnant clearance

4020294

TgeneAPOC1

GO:0045717

negative regulation of fatty acid biosynthetic process

15576844

TgeneAPOC1

GO:0045833

negative regulation of lipid metabolic process

182536

TgeneAPOC1

GO:0048261

negative regulation of receptor-mediated endocytosis

1917954

TgeneAPOC1

GO:0050995

negative regulation of lipid catabolic process

15576844

TgeneAPOC1

GO:0051005

negative regulation of lipoprotein lipase activity

15576844


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
ChiTaRS3.1BP389649HIVEP3chr1

42216169

-APOC1chr19

45419445

+
* 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-3CDSENST00000372583ENST00000588750HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-3CDSENST00000372583ENST00000588802HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-3CDSENST00000372583ENST00000252491HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-3CDSENST00000372583ENST00000592885HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-intronENST00000372583ENST00000589781HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-intronENST00000372583ENST00000586638HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-3CDSENST00000372584ENST00000588750HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-3CDSENST00000372584ENST00000588802HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-3CDSENST00000372584ENST00000252491HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-3CDSENST00000372584ENST00000592885HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-intronENST00000372584ENST00000589781HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-intronENST00000372584ENST00000586638HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-3CDSENST00000247584ENST00000588750HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-3CDSENST00000247584ENST00000588802HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-3CDSENST00000247584ENST00000252491HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-3CDSENST00000247584ENST00000592885HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-intronENST00000247584ENST00000589781HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-intronENST00000247584ENST00000586638HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-3CDSENST00000429157ENST00000588750HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-3CDSENST00000429157ENST00000588802HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-3CDSENST00000429157ENST00000252491HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-3CDSENST00000429157ENST00000592885HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-intronENST00000429157ENST00000589781HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-intronENST00000429157ENST00000586638HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-3CDSENST00000460604ENST00000588750HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-3CDSENST00000460604ENST00000588802HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-3CDSENST00000460604ENST00000252491HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-3CDSENST00000460604ENST00000592885HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-intronENST00000460604ENST00000589781HIVEP3chr1

42216169

-APOC1chr19

45419445

+
intron-intronENST00000460604ENST00000586638HIVEP3chr1

42216169

-APOC1chr19

45419445

+

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FusionProtFeatures for HIVEP3_APOC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HIVEP3

Q5T1R4

APOC1

P02654

Plays a role of transcription factor; binds torecognition signal sequences (Rss heptamer) for somaticrecombination of immunoglobulin and T-cell receptor gene segments;Binds also to the kappa-B motif of gene such as S100A4, involvedin cell progression and differentiation. Kappa-B motif is a generegulatory element found in promoters and enhancers of genesinvolved in immunity, inflammation, and growth and that respondsto viral antigens, mitogens, and cytokines. Involvement of HIVEP3in cell growth is strengthened by the fact that its down-regulation promotes cell cycle progression with ultimate formationof multinucleated giant cells. Strongly inhibits TNF-alpha-inducedNF-kappa-B activation; Interferes with nuclear factor NF-kappa-Bby several mechanisms: as transcription factor, by competing forKappa-B motif and by repressing transcription in the nucleus;through a non transcriptional process, by inhibiting nucleartranslocation of RELA by association with TRAF2, an adaptermolecule in the tumor necrosis factor signaling, which blocks theformation of IKK complex. Interaction with TRAF proteins inhibitsboth NF-Kappa-B-mediated and c-Jun N-terminal kinase/JNK-mediatedresponses that include apoptosis and proinflammatory cytokine geneexpression. Positively regulates the expression of IL2 in T-cell.Essential regulator of adult bone formation.{ECO:0000269|PubMed:11161801}. Inhibitor of lipoprotein binding to the low densitylipoprotein (LDL) receptor, LDL receptor-related protein, and verylow density lipoprotein (VLDL) receptor. Associates with highdensity lipoproteins (HDL) and the triacylglycerol-richlipoproteins in the plasma and makes up about 10% of the proteinof the VLDL and 2% of that of HDL. Appears to interfere directlywith fatty acid uptake and is also the major plasma inhibitor ofcholesteryl ester transfer protein (CETP). Binds free fatty acidsand reduces their intracellular esterification. Modulates theinteraction of APOE with beta-migrating VLDL and inhibits bindingof beta-VLDL to the LDL receptor-related protein.{ECO:0000269|PubMed:17339654, ECO:0000303|PubMed:25160599}.

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 HIVEP3_APOC1


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 HIVEP3_APOC1


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 HIVEP3_APOC1


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 HIVEP3_APOC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneAPOC1C0018801Heart failure1CTD_human