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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: 39456

FusionGeneSummary for TRIB1_NSMCE2

check button Fusion gene summary
Fusion gene informationFusion gene name: TRIB1_NSMCE2
Fusion gene ID: 39456
HgeneTgene
Gene symbol

TRIB1

NSMCE2

Gene ID

10221

286053

Gene nametribbles pseudokinase 1NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase
SynonymsC8FW|GIG-2|GIG2|SKIP1|TRB-1|TRB1C8orf36|MMS21|NSE2|ZMIZ7
Cytomap

8q24.13

8q24.13

Type of geneprotein-codingprotein-coding
Descriptiontribbles homolog 1G-protein-coupled receptor induced proteinG-protein-coupled receptor-induced gene 2 proteinG-protein-coupled receptor-induced protein 2phosphoprotein regulated by mitogenic pathwaystribbles-like protein 1E3 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 date2018052320180519
UniProtAcc

Q96RU8

Q96MF7

Ensembl transtripts involved in fusion geneENST00000311922, ENST00000520847, 
ENST00000521778, ENST00000519576, 
ENST00000287437, ENST00000522563, 
ENST00000517315, ENST00000521460, 
Fusion gene scores* DoF score3 X 2 X 3=1811 X 6 X 6=396
# samples 412
** MAII scorelog2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
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: TRIB1 [Title/Abstract] AND NSMCE2 [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
HgeneTRIB1

GO:0043405

regulation of MAP kinase activity

15299019


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
TCGALDBRCATCGA-B6-A0IJ-01ATRIB1chr8

126443504

+NSMCE2chr8

126369461

+
TCGARVLUADTCGA-55-7903-01ATRIB1chr8

126445851

+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
Frame-shiftENST00000311922ENST00000287437TRIB1chr8

126443504

+NSMCE2chr8

126369461

+
Frame-shiftENST00000311922ENST00000522563TRIB1chr8

126443504

+NSMCE2chr8

126369461

+
Frame-shiftENST00000311922ENST00000517315TRIB1chr8

126443504

+NSMCE2chr8

126369461

+
5CDS-intronENST00000311922ENST00000521460TRIB1chr8

126443504

+NSMCE2chr8

126369461

+
intron-3CDSENST00000520847ENST00000287437TRIB1chr8

126443504

+NSMCE2chr8

126369461

+
intron-3CDSENST00000520847ENST00000522563TRIB1chr8

126443504

+NSMCE2chr8

126369461

+
intron-3CDSENST00000520847ENST00000517315TRIB1chr8

126443504

+NSMCE2chr8

126369461

+
intron-intronENST00000520847ENST00000521460TRIB1chr8

126443504

+NSMCE2chr8

126369461

+
intron-3CDSENST00000521778ENST00000287437TRIB1chr8

126443504

+NSMCE2chr8

126369461

+
intron-3CDSENST00000521778ENST00000522563TRIB1chr8

126443504

+NSMCE2chr8

126369461

+
intron-3CDSENST00000521778ENST00000517315TRIB1chr8

126443504

+NSMCE2chr8

126369461

+
intron-intronENST00000521778ENST00000521460TRIB1chr8

126443504

+NSMCE2chr8

126369461

+
intron-3CDSENST00000519576ENST00000287437TRIB1chr8

126443504

+NSMCE2chr8

126369461

+
intron-3CDSENST00000519576ENST00000522563TRIB1chr8

126443504

+NSMCE2chr8

126369461

+
intron-3CDSENST00000519576ENST00000517315TRIB1chr8

126443504

+NSMCE2chr8

126369461

+
intron-intronENST00000519576ENST00000521460TRIB1chr8

126443504

+NSMCE2chr8

126369461

+
Frame-shiftENST00000311922ENST00000287437TRIB1chr8

126445851

+NSMCE2chr8

126369461

+
Frame-shiftENST00000311922ENST00000522563TRIB1chr8

126445851

+NSMCE2chr8

126369461

+
Frame-shiftENST00000311922ENST00000517315TRIB1chr8

126445851

+NSMCE2chr8

126369461

+
5CDS-intronENST00000311922ENST00000521460TRIB1chr8

126445851

+NSMCE2chr8

126369461

+
Frame-shiftENST00000520847ENST00000287437TRIB1chr8

126445851

+NSMCE2chr8

126369461

+
Frame-shiftENST00000520847ENST00000522563TRIB1chr8

126445851

+NSMCE2chr8

126369461

+
Frame-shiftENST00000520847ENST00000517315TRIB1chr8

126445851

+NSMCE2chr8

126369461

+
5CDS-intronENST00000520847ENST00000521460TRIB1chr8

126445851

+NSMCE2chr8

126369461

+
intron-3CDSENST00000521778ENST00000287437TRIB1chr8

126445851

+NSMCE2chr8

126369461

+
intron-3CDSENST00000521778ENST00000522563TRIB1chr8

126445851

+NSMCE2chr8

126369461

+
intron-3CDSENST00000521778ENST00000517315TRIB1chr8

126445851

+NSMCE2chr8

126369461

+
intron-intronENST00000521778ENST00000521460TRIB1chr8

126445851

+NSMCE2chr8

126369461

+
5UTR-3CDSENST00000519576ENST00000287437TRIB1chr8

126445851

+NSMCE2chr8

126369461

+
5UTR-3CDSENST00000519576ENST00000522563TRIB1chr8

126445851

+NSMCE2chr8

126369461

+
5UTR-3CDSENST00000519576ENST00000517315TRIB1chr8

126445851

+NSMCE2chr8

126369461

+
5UTR-intronENST00000519576ENST00000521460TRIB1chr8

126445851

+NSMCE2chr8

126369461

+

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FusionProtFeatures for TRIB1_NSMCE2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TRIB1

Q96RU8

NSMCE2

Q96MF7

Adapter protein involved in protein degradation byinteracting with COP1 ubiquitin ligase (PubMed:27041596). TheCOP1-binding motif is masked by autoinhibitory interactions withthe protein kinase domain (PubMed:26455797). Serves to alter COP1substrate specificity by directing the activity of COP1 towardCEBPA (PubMed:27041596). Binds selectively the recognitionsequence of CEBPA (PubMed:26455797). Regulates myeloid celldifferentiation by altering the expression of CEBPA in a COP1-dependent manner (By similarity). Controls macrophage, eosinophiland neutrophil differentiation via the COP1-binding domain (Bysimilarity). Interacts with MAPK kinases and regulates activationof MAP kinases, but has no kinase activity (PubMed:15299019,PubMed:26455797). {ECO:0000250|UniProtKB:Q8K4K4,ECO:0000269|PubMed:15299019, ECO:0000269|PubMed:26455797,ECO:0000305|PubMed:27041596}. 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 TRIB1_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 TRIB1_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
TRIB1ALOX12, ELAVL1, MYC, RFWD2, STK40, FOSL2, LLGL1, PCDH1, BECN1, STK17B, RASSF8, MORC3, SLAIN2, HNRNPA1L2, FOS, MALT1, PECR, DET1, ISCA1, TRIB2, UBE2E1, JUNBNSMCE2NSMCE1, 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 TRIB1_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 TRIB1_NSMCE2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTRIB1C1956346Coronary Artery Disease1CTD_human