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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: 23535

FusionGeneSummary for NCALD_NSMCE2

check button Fusion gene summary
Fusion gene informationFusion gene name: NCALD_NSMCE2
Fusion gene ID: 23535
HgeneTgene
Gene symbol

NCALD

NSMCE2

Gene ID

83988

286053

Gene nameneurocalcin deltaNSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase
Synonyms-C8orf36|MMS21|NSE2|ZMIZ7
Cytomap

8q22.3

8q24.13

Type of geneprotein-codingprotein-coding
Descriptionneurocalcin-deltaE3 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-ty
Modification date2018051920180519
UniProtAcc

P61601

Q96MF7

Ensembl transtripts involved in fusion geneENST00000311028, ENST00000395923, 
ENST00000220931, ENST00000521599, 
ENST00000522951, ENST00000519508, 
ENST00000521371, 
ENST00000287437, 
ENST00000522563, ENST00000517315, 
ENST00000521460, 
Fusion gene scores* DoF score6 X 5 X 5=15011 X 6 X 6=396
# samples 912
** MAII scorelog2(9/150*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/396*10)=-1.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NCALD [Title/Abstract] AND NSMCE2 [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
TCGARVLUSCTCGA-66-2754-01ANCALDchr8

102803090

-NSMCE2chr8

126369461

+
* 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-3CDSENST00000311028ENST00000287437NCALDchr8

102803090

-NSMCE2chr8

126369461

+
intron-3CDSENST00000311028ENST00000522563NCALDchr8

102803090

-NSMCE2chr8

126369461

+
intron-3CDSENST00000311028ENST00000517315NCALDchr8

102803090

-NSMCE2chr8

126369461

+
intron-intronENST00000311028ENST00000521460NCALDchr8

102803090

-NSMCE2chr8

126369461

+
intron-3CDSENST00000395923ENST00000287437NCALDchr8

102803090

-NSMCE2chr8

126369461

+
intron-3CDSENST00000395923ENST00000522563NCALDchr8

102803090

-NSMCE2chr8

126369461

+
intron-3CDSENST00000395923ENST00000517315NCALDchr8

102803090

-NSMCE2chr8

126369461

+
intron-intronENST00000395923ENST00000521460NCALDchr8

102803090

-NSMCE2chr8

126369461

+
5UTR-3CDSENST00000220931ENST00000287437NCALDchr8

102803090

-NSMCE2chr8

126369461

+
5UTR-3CDSENST00000220931ENST00000522563NCALDchr8

102803090

-NSMCE2chr8

126369461

+
5UTR-3CDSENST00000220931ENST00000517315NCALDchr8

102803090

-NSMCE2chr8

126369461

+
5UTR-intronENST00000220931ENST00000521460NCALDchr8

102803090

-NSMCE2chr8

126369461

+
intron-3CDSENST00000521599ENST00000287437NCALDchr8

102803090

-NSMCE2chr8

126369461

+
intron-3CDSENST00000521599ENST00000522563NCALDchr8

102803090

-NSMCE2chr8

126369461

+
intron-3CDSENST00000521599ENST00000517315NCALDchr8

102803090

-NSMCE2chr8

126369461

+
intron-intronENST00000521599ENST00000521460NCALDchr8

102803090

-NSMCE2chr8

126369461

+
5UTR-3CDSENST00000522951ENST00000287437NCALDchr8

102803090

-NSMCE2chr8

126369461

+
5UTR-3CDSENST00000522951ENST00000522563NCALDchr8

102803090

-NSMCE2chr8

126369461

+
5UTR-3CDSENST00000522951ENST00000517315NCALDchr8

102803090

-NSMCE2chr8

126369461

+
5UTR-intronENST00000522951ENST00000521460NCALDchr8

102803090

-NSMCE2chr8

126369461

+
intron-3CDSENST00000519508ENST00000287437NCALDchr8

102803090

-NSMCE2chr8

126369461

+
intron-3CDSENST00000519508ENST00000522563NCALDchr8

102803090

-NSMCE2chr8

126369461

+
intron-3CDSENST00000519508ENST00000517315NCALDchr8

102803090

-NSMCE2chr8

126369461

+
intron-intronENST00000519508ENST00000521460NCALDchr8

102803090

-NSMCE2chr8

126369461

+
5UTR-3CDSENST00000521371ENST00000287437NCALDchr8

102803090

-NSMCE2chr8

126369461

+
5UTR-3CDSENST00000521371ENST00000522563NCALDchr8

102803090

-NSMCE2chr8

126369461

+
5UTR-3CDSENST00000521371ENST00000517315NCALDchr8

102803090

-NSMCE2chr8

126369461

+
5UTR-intronENST00000521371ENST00000521460NCALDchr8

102803090

-NSMCE2chr8

126369461

+

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FusionProtFeatures for NCALD_NSMCE2


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

P61601

NSMCE2

Q96MF7

May be involved in the calcium-dependent regulation ofrhodopsin phosphorylation. Binds three calcium ions. 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


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FusionGeneSequence for NCALD_NSMCE2


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 NCALD_NSMCE2


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
NCALDDTX2, ACTB, METTL21A, MEOX2, C1QTNF2, ARMC1, HAX1, NUFIP1, DGUOK, DNAAF2, TMEM14B, NDUFB5, VTCN1, HSPBAP1NSMCE2NSMCE1, SMC6, RAD21, STAG2, SMC5, SMC1A, SMC3, PDS5A, PDS5B, WAPAL, ETV1, TSNAX, PAN2, TXLNA, USP28, EID3, ZNF597, NDNL2, EWSR1, ILK, SORT1, NIPSNAP1, TM9SF4, SYNCRIP, SAMD1


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 NCALD_NSMCE2


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 NCALD_NSMCE2


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