FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 24942

FusionGeneSummary for NSMCE2_DCLRE1C

check button Fusion gene summary
Fusion gene informationFusion gene name: NSMCE2_DCLRE1C
Fusion gene ID: 24942
HgeneTgene
Gene symbol

NSMCE2

DCLRE1C

Gene ID

286053

64421

Gene nameNSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligaseDNA cross-link repair 1C
SynonymsC8orf36|MMS21|NSE2|ZMIZ7A-SCID|DCLREC1C|RS-SCID|SCIDA|SNM1C
Cytomap

8q24.13

10p13

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-typrotein artemisDNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)SNM1 homolog CSNM1-like proteinsevere combined immunodeficiency, type a (Athabascan)
Modification date2018051920180523
UniProtAcc

Q96MF7

Q96SD1

Ensembl transtripts involved in fusion geneENST00000287437, ENST00000522563, 
ENST00000517315, ENST00000521460, 
ENST00000378289, ENST00000453695, 
ENST00000378246, ENST00000357717, 
ENST00000378278, ENST00000396817, 
ENST00000378254, ENST00000378255, 
ENST00000378249, ENST00000378258, 
ENST00000378242, ENST00000492201, 
Fusion gene scores* DoF score12 X 8 X 6=5764 X 3 X 3=36
# samples 114
** MAII scorelog2(11/576*10)=-2.38856528791765
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NSMCE2 [Title/Abstract] AND DCLRE1C [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
TCGARVBRCATCGA-AR-A1AW-01ANSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
* 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-shitENST00000287437ENST00000378289NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000287437ENST00000453695NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000287437ENST00000378246NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000287437ENST00000357717NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000287437ENST00000378278NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000287437ENST00000396817NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000287437ENST00000378254NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000287437ENST00000378255NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000287437ENST00000378249NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000287437ENST00000378258NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000287437ENST00000378242NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000287437ENST00000492201NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
Frame-shitENST00000522563ENST00000378289NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000522563ENST00000453695NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000522563ENST00000378246NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000522563ENST00000357717NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000522563ENST00000378278NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000522563ENST00000396817NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000522563ENST00000378254NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000522563ENST00000378255NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000522563ENST00000378249NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000522563ENST00000378258NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000522563ENST00000378242NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
5CDS-intronENST00000522563ENST00000492201NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-3CDSENST00000517315ENST00000378289NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000517315ENST00000453695NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000517315ENST00000378246NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000517315ENST00000357717NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000517315ENST00000378278NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000517315ENST00000396817NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000517315ENST00000378254NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000517315ENST00000378255NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000517315ENST00000378249NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000517315ENST00000378258NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000517315ENST00000378242NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000517315ENST00000492201NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-3CDSENST00000521460ENST00000378289NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000521460ENST00000453695NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000521460ENST00000378246NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000521460ENST00000357717NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000521460ENST00000378278NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000521460ENST00000396817NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000521460ENST00000378254NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000521460ENST00000378255NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000521460ENST00000378249NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000521460ENST00000378258NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000521460ENST00000378242NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-
intron-intronENST00000521460ENST00000492201NSMCE2chr8

126114729

+DCLRE1Cchr10

14941311

-

Top

FusionProtFeatures for NSMCE2_DCLRE1C


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

Q96MF7

DCLRE1C

Q96SD1

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}.

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


Top

FusionGeneSequence for NSMCE2_DCLRE1C


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).

Top

FusionGenePPI for NSMCE2_DCLRE1C


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, SAMD1DCLRE1CPRKDC, FBXW7, DDB1, DDB2, ATM, BRCA1, RAD50, NBN, MRE11A, ATR, XRCC5, CDKN1B, AKAP11, ANKRD52, ZSWIM8, PRKAG2, PRKAG1, PPP6R2, PRKAB1, PRKAB2, TRIM26, PRKACB, PRKAA1, PRKAA2, PASK, ANKRD28, DDX20, PPP6R1, GOLGA2, SPATA20, CDC27, PRKAR1B, PPP2R5E, TP53, MTHFR


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


Top

RelatedDrugs for NSMCE2_DCLRE1C


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

Top

RelatedDiseases for NSMCE2_DCLRE1C


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneDCLRE1CC1865370Severe combined immunodeficiency with sensitivity to ionizing radiation1CTD_human;ORPHANET;UNIPROT
TgeneDCLRE1CC2700553Omenn Syndrome1ORPHANET;UNIPROT