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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: 8876

FusionGeneSummary for CTPS1_HIVEP3

check button Fusion gene summary
Fusion gene informationFusion gene name: CTPS1_HIVEP3
Fusion gene ID: 8876
HgeneTgene
Gene symbol

CTPS1

HIVEP3

Gene ID

1503

59269

Gene nameCTP synthase 1human immunodeficiency virus type I enhancer binding protein 3
SynonymsCTPS|GATD5|IMD24KBP-1|KBP1|KRC|SHN3|Schnurri-3|ZAS3|ZNF40C
Cytomap

1p34.2

1p34.2

Type of geneprotein-codingprotein-coding
DescriptionCTP synthase 1CTP synthetase 1UTP--ammonia ligase 1cytidine 5'-triphosphate synthetasecytidine 5-prime triphosphate synthetasetranscription factor HIVEP3ZAS family, member 3kappa-B and V(D)J recombination signal sequences-binding proteinkappa-binding protein 1zinc finger protein ZAS3
Modification date2018052220180523
UniProtAcc

P17812

Q5T1R4

Ensembl transtripts involved in fusion geneENST00000372621, ENST00000541520, 
ENST00000475060, ENST00000543104, 
ENST00000372616, 		ENST00000372583, 
ENST00000372584, ENST00000247584, 
ENST00000429157, ENST00000460604, 
Fusion gene scores* DoF score6 X 7 X 6=25212 X 9 X 8=864
# samples 713
** MAII scorelog2(7/252*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/864*10)=-2.73251968913501
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CTPS1 [Title/Abstract] AND HIVEP3 [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
HgeneCTPS1

GO:0006241

CTP biosynthetic process

16179339

TgeneHIVEP3

GO:0045893

positive regulation of transcription, DNA-templated

15790681


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
TCGALDPRADTCGA-HC-7078-01ACTPS1chr1

41445501

+HIVEP3chr1

42384195

-
* 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
5UTR-intronENST00000372621ENST00000372583CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
5UTR-5UTRENST00000372621ENST00000372584CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
5UTR-intronENST00000372621ENST00000247584CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
5UTR-intronENST00000372621ENST00000429157CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
5UTR-intronENST00000372621ENST00000460604CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
5UTR-intronENST00000541520ENST00000372583CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
5UTR-5UTRENST00000541520ENST00000372584CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
5UTR-intronENST00000541520ENST00000247584CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
5UTR-intronENST00000541520ENST00000429157CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
5UTR-intronENST00000541520ENST00000460604CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
intron-intronENST00000475060ENST00000372583CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
intron-5UTRENST00000475060ENST00000372584CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
intron-intronENST00000475060ENST00000247584CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
intron-intronENST00000475060ENST00000429157CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
intron-intronENST00000475060ENST00000460604CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
intron-intronENST00000543104ENST00000372583CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
intron-5UTRENST00000543104ENST00000372584CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
intron-intronENST00000543104ENST00000247584CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
intron-intronENST00000543104ENST00000429157CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
intron-intronENST00000543104ENST00000460604CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
intron-intronENST00000372616ENST00000372583CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
intron-5UTRENST00000372616ENST00000372584CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
intron-intronENST00000372616ENST00000247584CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
intron-intronENST00000372616ENST00000429157CTPS1chr1

41445501

+HIVEP3chr1

42384195

-
intron-intronENST00000372616ENST00000460604CTPS1chr1

41445501

+HIVEP3chr1

42384195

-

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FusionProtFeatures for CTPS1_HIVEP3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CTPS1

P17812

HIVEP3

Q5T1R4

This enzyme is involved in the de novo synthesis of CTP,a precursor of DNA, RNA and phospholipids. Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine orammonia as a source of nitrogen. This enzyme and its product, CTP,play a crucial role in the proliferation of activated lymphocytesand therefore in immunity. {ECO:0000269|PubMed:16179339,ECO:0000269|PubMed:24870241}. 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}.

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 CTPS1_HIVEP3


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 CTPS1_HIVEP3


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
CTPS1TRAF6, PSMA3, RAD21, ARRB2, MYC, CUL3, CUL4B, CUL5, CUL2, CDK2, CUL1, COPS5, CAND1, NEDD8, FBXO6, RBM28, POLR1C, YWHAQ, ACO1, CLNS1A, CS, UBA1, UBA6, UBXN1, VCL, DCTPP1, DFFA, GINS3, PAPSS1, PKM, PPP5C, AURKA, TUBGCP3, CTPS1, CTBP2, EIF4B, ERCC2, GMPS, IMPDH1, PDCD10, PLCG1, PRMT5, RTFDC1, SNX2, STRAP, TRMT1, TTC4, WDR36, IMPDH2, NHP2L1, NMD3, PRMT1, PUS7, SKIV2L2, TSN, NTRK1, LCA5, OFD1, RPGRIP1L, SNX3, MCM2, OTUB1, CTPS2, TIGD3, CYLD, HSD17B10, TRIM25, BRCA1HIVEP3TRAF1, TRAF2, UBC, RUNX2, WWP1, FHL1, FUS, NUP35, TRIM25


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 CTPS1_HIVEP3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCTPS1P17812DB00130L-GlutamineCTP synthase 1 {ECO:0000305}small moleculeapproved|investigational|nutraceutical

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RelatedDiseases for CTPS1_HIVEP3


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