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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: 8880

FusionGeneSummary for CTPS2_RGN

check button Fusion gene summary
Fusion gene informationFusion gene name: CTPS2_RGN
Fusion gene ID: 8880
HgeneTgene
Gene symbol

CTPS2

RGN

Gene ID

56474

9104

Gene nameCTP synthase 2regucalcin
Synonyms-GNL|HEL-S-41|RC|SMP30
Cytomap

Xp22.2

Xp11.3

Type of geneprotein-codingprotein-coding
DescriptionCTP synthase 2CTP synthase IICTP synthetase type 2UTP-ammonia ligase 2cytidine 5'-triphosphate synthetase 2regucalcinepididymis secretory protein Li 41gluconolactonasesenescence marker protein 30
Modification date2018052220180523
UniProtAcc

Q9NRF8

Q15493

Ensembl transtripts involved in fusion geneENST00000443824, ENST00000359276, 
ENST00000380241, ENST00000483053, 
ENST00000397180, ENST00000457380, 
ENST00000352078, ENST00000469346, 
ENST00000336169, 
Fusion gene scores* DoF score5 X 5 X 4=1001 X 2 X 1=2
# samples 61
** MAII scorelog2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/2*10)=2.32192809488736
Context

PubMed: CTPS2 [Title/Abstract] AND RGN [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
TCGARVSARCTCGA-X6-A8C6-01ACTPS2chrX

16716359

-RGNchrX

46940529

+
TCGALDSARCTCGA-X6-A8C6-01ACTPS2chrX

16716361

-RGNchrX

46940527

+
* 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
5CDS-5UTRENST00000443824ENST00000397180CTPS2chrX

16716359

-RGNchrX

46940529

+
5CDS-5UTRENST00000443824ENST00000457380CTPS2chrX

16716359

-RGNchrX

46940529

+
5CDS-5UTRENST00000443824ENST00000352078CTPS2chrX

16716359

-RGNchrX

46940529

+
5CDS-3UTRENST00000443824ENST00000469346CTPS2chrX

16716359

-RGNchrX

46940529

+
5CDS-5UTRENST00000443824ENST00000336169CTPS2chrX

16716359

-RGNchrX

46940529

+
5CDS-5UTRENST00000359276ENST00000397180CTPS2chrX

16716359

-RGNchrX

46940529

+
5CDS-5UTRENST00000359276ENST00000457380CTPS2chrX

16716359

-RGNchrX

46940529

+
5CDS-5UTRENST00000359276ENST00000352078CTPS2chrX

16716359

-RGNchrX

46940529

+
5CDS-3UTRENST00000359276ENST00000469346CTPS2chrX

16716359

-RGNchrX

46940529

+
5CDS-5UTRENST00000359276ENST00000336169CTPS2chrX

16716359

-RGNchrX

46940529

+
5CDS-5UTRENST00000380241ENST00000397180CTPS2chrX

16716359

-RGNchrX

46940529

+
5CDS-5UTRENST00000380241ENST00000457380CTPS2chrX

16716359

-RGNchrX

46940529

+
5CDS-5UTRENST00000380241ENST00000352078CTPS2chrX

16716359

-RGNchrX

46940529

+
5CDS-3UTRENST00000380241ENST00000469346CTPS2chrX

16716359

-RGNchrX

46940529

+
5CDS-5UTRENST00000380241ENST00000336169CTPS2chrX

16716359

-RGNchrX

46940529

+
intron-5UTRENST00000483053ENST00000397180CTPS2chrX

16716359

-RGNchrX

46940529

+
intron-5UTRENST00000483053ENST00000457380CTPS2chrX

16716359

-RGNchrX

46940529

+
intron-5UTRENST00000483053ENST00000352078CTPS2chrX

16716359

-RGNchrX

46940529

+
intron-3UTRENST00000483053ENST00000469346CTPS2chrX

16716359

-RGNchrX

46940529

+
intron-5UTRENST00000483053ENST00000336169CTPS2chrX

16716359

-RGNchrX

46940529

+
5CDS-5UTRENST00000443824ENST00000397180CTPS2chrX

16716361

-RGNchrX

46940527

+
5CDS-5UTRENST00000443824ENST00000457380CTPS2chrX

16716361

-RGNchrX

46940527

+
5CDS-5UTRENST00000443824ENST00000352078CTPS2chrX

16716361

-RGNchrX

46940527

+
5CDS-3UTRENST00000443824ENST00000469346CTPS2chrX

16716361

-RGNchrX

46940527

+
5CDS-5UTRENST00000443824ENST00000336169CTPS2chrX

16716361

-RGNchrX

46940527

+
5CDS-5UTRENST00000359276ENST00000397180CTPS2chrX

16716361

-RGNchrX

46940527

+
5CDS-5UTRENST00000359276ENST00000457380CTPS2chrX

16716361

-RGNchrX

46940527

+
5CDS-5UTRENST00000359276ENST00000352078CTPS2chrX

16716361

-RGNchrX

46940527

+
5CDS-3UTRENST00000359276ENST00000469346CTPS2chrX

16716361

-RGNchrX

46940527

+
5CDS-5UTRENST00000359276ENST00000336169CTPS2chrX

16716361

-RGNchrX

46940527

+
5CDS-5UTRENST00000380241ENST00000397180CTPS2chrX

16716361

-RGNchrX

46940527

+
5CDS-5UTRENST00000380241ENST00000457380CTPS2chrX

16716361

-RGNchrX

46940527

+
5CDS-5UTRENST00000380241ENST00000352078CTPS2chrX

16716361

-RGNchrX

46940527

+
5CDS-3UTRENST00000380241ENST00000469346CTPS2chrX

16716361

-RGNchrX

46940527

+
5CDS-5UTRENST00000380241ENST00000336169CTPS2chrX

16716361

-RGNchrX

46940527

+
intron-5UTRENST00000483053ENST00000397180CTPS2chrX

16716361

-RGNchrX

46940527

+
intron-5UTRENST00000483053ENST00000457380CTPS2chrX

16716361

-RGNchrX

46940527

+
intron-5UTRENST00000483053ENST00000352078CTPS2chrX

16716361

-RGNchrX

46940527

+
intron-3UTRENST00000483053ENST00000469346CTPS2chrX

16716361

-RGNchrX

46940527

+
intron-5UTRENST00000483053ENST00000336169CTPS2chrX

16716361

-RGNchrX

46940527

+

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FusionProtFeatures for CTPS2_RGN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CTPS2

Q9NRF8

RGN

Q15493

Catalyzes the ATP-dependent amination of UTP to CTP witheither L-glutamine or ammonia as the source of nitrogen.Constitutes the rate-limiting enzyme in the synthesis of cytosinenucleotides. {ECO:0000269|PubMed:10899599,ECO:0000269|PubMed:16179339}. Gluconolactonase with low activity towards other sugarlactones, including gulonolactone and galactonolactone. Can alsohydrolyze diisopropyl phosphorofluoridate and phenylacetate (invitro). Calcium-binding protein. Modulates Ca(2+) signaling, andCa(2+)-dependent cellular processes and enzyme activities (Bysimilarity). {ECO:0000250}.

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 CTPS2_RGN


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 CTPS2_RGN


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
CTPS2CTPS2, SPG21, OTUD5, CTBP2, FGFR1, RPL23A, RPL37A, DHPS, EHD1, EHD4, GTF2I, KTN1, METTL1, NUCB1, PRKDC, WARS, HSF1, LRSAM1, MTMR2, PLIN3, RNF2, COL9A1, SLAMF1, ENPP6, NTRK1, XPO1, NASP, SNX3, ATOH1, TIGD3, CTPS1, SUGP1, MTNR1ARGNTHRA, HINT1, HSPE1, SOD1, WDR1, SGOL2, OAZ3


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 CTPS2_RGN


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneRGNQ15493DB11093Calcium CitrateRegucalcinsmall moleculeapproved
TgeneRGNQ15493DB11348Calcium PhosphateRegucalcinsmall moleculeapproved

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RelatedDiseases for CTPS2_RGN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRGNC0023893Liver Cirrhosis, Experimental2CTD_human
TgeneRGNC0022658Kidney Diseases1CTD_human
TgeneRGNC0023890Liver Cirrhosis1CTD_human
TgeneRGNC0023904Liver Neoplasms, Experimental1CTD_human
TgeneRGNC4277682Chemical and Drug Induced Liver Injury1CTD_human