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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: 24946

FusionGeneSummary for NSMCE2_PACRG

check button Fusion gene summary
Fusion gene informationFusion gene name: NSMCE2_PACRG
Fusion gene ID: 24946
HgeneTgene
Gene symbol

NSMCE2

PACRG

Gene ID

286053

135138

Gene nameNSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligaseparkin coregulated
SynonymsC8orf36|MMS21|NSE2|ZMIZ7GLUP|HAK005771|PARK2CRG
Cytomap

8q24.13

6q26

Type of geneprotein-codingprotein-coding
DescriptionE3 SUMO-protein ligase NSE2E3 SUMO-protein transferase NSE2NSMCE2/PVT1 fusionPVT1/NSMCE2 fusionmethyl methanesulfonate sensitivity gene 21non-SMC element 2, MMS21 homolognon-structural maintenance of chromosomes element 2 homologzinc finger, MIZ-typarkin coregulated gene proteinPARK2 co-regulatedPARK2 coregulatedmolecular chaperone/chaperonin-binding proteinparkin co-regulated gene protein
Modification date2018051920180523
UniProtAcc

Q96MF7

Q96M98

Ensembl transtripts involved in fusion geneENST00000287437, ENST00000522563, 
ENST00000517315, ENST00000521460, 
ENST00000337019, ENST00000366889, 
ENST00000366888, ENST00000542669, 
Fusion gene scores* DoF score12 X 8 X 6=5768 X 6 X 11=528
# samples 1112
** MAII scorelog2(11/576*10)=-2.38856528791765
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/528*10)=-2.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NSMCE2 [Title/Abstract] AND PACRG [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationDDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* 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
TCGARVHNSCTCGA-BA-4077-01BNSMCE2chr8

126114729

+PACRGchr6

163235179

+
* 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
Frame-shiftENST00000287437ENST00000337019NSMCE2chr8

126114729

+PACRGchr6

163235179

+
Frame-shiftENST00000287437ENST00000366889NSMCE2chr8

126114729

+PACRGchr6

163235179

+
Frame-shiftENST00000287437ENST00000366888NSMCE2chr8

126114729

+PACRGchr6

163235179

+
5CDS-3UTRENST00000287437ENST00000542669NSMCE2chr8

126114729

+PACRGchr6

163235179

+
Frame-shiftENST00000522563ENST00000337019NSMCE2chr8

126114729

+PACRGchr6

163235179

+
Frame-shiftENST00000522563ENST00000366889NSMCE2chr8

126114729

+PACRGchr6

163235179

+
Frame-shiftENST00000522563ENST00000366888NSMCE2chr8

126114729

+PACRGchr6

163235179

+
5CDS-3UTRENST00000522563ENST00000542669NSMCE2chr8

126114729

+PACRGchr6

163235179

+
intron-3CDSENST00000517315ENST00000337019NSMCE2chr8

126114729

+PACRGchr6

163235179

+
intron-3CDSENST00000517315ENST00000366889NSMCE2chr8

126114729

+PACRGchr6

163235179

+
intron-3CDSENST00000517315ENST00000366888NSMCE2chr8

126114729

+PACRGchr6

163235179

+
intron-3UTRENST00000517315ENST00000542669NSMCE2chr8

126114729

+PACRGchr6

163235179

+
intron-3CDSENST00000521460ENST00000337019NSMCE2chr8

126114729

+PACRGchr6

163235179

+
intron-3CDSENST00000521460ENST00000366889NSMCE2chr8

126114729

+PACRGchr6

163235179

+
intron-3CDSENST00000521460ENST00000366888NSMCE2chr8

126114729

+PACRGchr6

163235179

+
intron-3UTRENST00000521460ENST00000542669NSMCE2chr8

126114729

+PACRGchr6

163235179

+

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FusionProtFeatures for NSMCE2_PACRG


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NSMCE2

Q96MF7

PACRG

Q96M98

E3 SUMO-protein ligase component of the SMC5-SMC6complex, a complex involved in DNA double-strand break repair byhomologous recombination. Is not be required for the stability ofthe complex. The complex may promote sister chromatid homologousrecombination by recruiting the SMC1-SMC3 cohesin complex todouble-strand breaks. The complex is required for telomeremaintenance via recombination in ALT (alternative lengthening oftelomeres) cell lines and mediates sumoylation of shelterincomplex (telosome) components which is proposed to lead toshelterin complex disassembly in ALT-associated PML bodies (APBs).Acts as an E3 ligase mediating SUMO attachment to various proteinssuch as SMC6L1 and TRAX, the shelterin complex subunits TERF1,TERF2, TINF2 and TERF2IP, and maybe the cohesin components RAD21and STAG2. Required for recruitment of telomeres to PML nuclearbodies. SUMO protein-ligase activity is required for theprevention of DNA damage-induced apoptosis by facilitating DNArepair, and for formation of APBs in ALT cell lines. Required forsister chromatid cohesion during prometaphase and mitoticprogression. {ECO:0000269|PubMed:16055714,ECO:0000269|PubMed:16810316, ECO:0000269|PubMed:17589526,ECO:0000269|PubMed:19502785}. Suppresses cell death induced by accumulation ofunfolded Pael receptor (Pael-R, a substrate of Parkin).Facilitates the formation of inclusions consisting of Pael-R,molecular chaperones, protein degradation molecules and itselfwhen proteasome is inhibited. May play an important role in theformation of Lewy bodies and protection of dopaminergic neuronsagainst Parkinson disease. {ECO:0000269|PubMed:14532270}.

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 NSMCE2_PACRG


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 NSMCE2_PACRG


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
NSMCE2NSMCE1, SMC6, RAD21, STAG2, SMC5, SMC1A, SMC3, PDS5A, PDS5B, WAPAL, ETV1, TSNAX, PAN2, TXLNA, USP28, EID3, ZNF597, NDNL2, EWSR1, ILK, SORT1, NIPSNAP1, TM9SF4, SYNCRIP, SAMD1PACRGHSP90AA1, CCT3, CCT4, CCT5, TCP1, CCT6A, CCT7, CCT2, TUBA1A, TUBB, HSPA4, PARK2, STUB1, DNAJA1, VCP, GPR37, APP, KLHL36, TP53, STIP1, CCDC40


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 NSMCE2_PACRG


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 NSMCE2_PACRG


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