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Fusion gene ID: 24943 |
FusionGeneSummary for NSMCE2_EXT1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NSMCE2_EXT1 | Fusion gene ID: 24943 | Hgene | Tgene | Gene symbol | NSMCE2 | EXT1 | Gene ID | 286053 | 2131 |
| Gene name | NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase | exostosin glycosyltransferase 1 | |
| Synonyms | C8orf36|MMS21|NSE2|ZMIZ7 | EXT|LGCR|LGS|TRPS2|TTV | |
| Cytomap | 8q24.13 | 8q24.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 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 | exostosin-1Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferaseLanger-Giedion syndrome chromosome regionN-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferaseexostoses (multiple) 1glucuronosyl-N-acetylgluc | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q96MF7 | Q16394 | |
| Ensembl transtripts involved in fusion gene | ENST00000287437, ENST00000522563, ENST00000517315, ENST00000521460, | ENST00000378204, | |
| Fusion gene scores | * DoF score | 12 X 8 X 6=576 | 7 X 6 X 5=210 |
| # samples | 11 | 9 | |
| ** MAII score | log2(11/576*10)=-2.38856528791765 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/210*10)=-1.22239242133645 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NSMCE2 [Title/Abstract] AND EXT1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | DDR (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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | EXT1 | GO:0006024 | glycosaminoglycan biosynthetic process | 12907669 |
| Tgene | EXT1 | GO:0015012 | heparan sulfate proteoglycan biosynthetic process | 9620772|10639137 |
| Tgene | EXT1 | GO:0033692 | cellular polysaccharide biosynthetic process | 12907669 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | SARC | TCGA-JV-A75J-01A | NSMCE2 | chr8 | 126163519 | + | EXT1 | chr8 | 118817132 | - |
| TCGA | LD | SARC | TCGA-JV-A75J-01A | NSMCE2 | chr8 | 126168340 | + | EXT1 | chr8 | 118817132 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000287437 | ENST00000378204 | NSMCE2 | chr8 | 126163519 | + | EXT1 | chr8 | 118817132 | - |
| Frame-shift | ENST00000522563 | ENST00000378204 | NSMCE2 | chr8 | 126163519 | + | EXT1 | chr8 | 118817132 | - |
| Frame-shift | ENST00000517315 | ENST00000378204 | NSMCE2 | chr8 | 126163519 | + | EXT1 | chr8 | 118817132 | - |
| intron-3CDS | ENST00000521460 | ENST00000378204 | NSMCE2 | chr8 | 126163519 | + | EXT1 | chr8 | 118817132 | - |
| intron-3CDS | ENST00000287437 | ENST00000378204 | NSMCE2 | chr8 | 126168340 | + | EXT1 | chr8 | 118817132 | - |
| intron-3CDS | ENST00000522563 | ENST00000378204 | NSMCE2 | chr8 | 126168340 | + | EXT1 | chr8 | 118817132 | - |
| intron-3CDS | ENST00000517315 | ENST00000378204 | NSMCE2 | chr8 | 126168340 | + | EXT1 | chr8 | 118817132 | - |
| intron-3CDS | ENST00000521460 | ENST00000378204 | NSMCE2 | chr8 | 126168340 | + | EXT1 | chr8 | 118817132 | - |
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FusionProtFeatures for NSMCE2_EXT1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NSMCE2 | EXT1 |
| 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}. | Glycosyltransferase required for the biosynthesis ofheparan-sulfate. The EXT1/EXT2 complex possesses substantiallyhigher glycosyltransferase activity than EXT1 or EXT2 alone.Appears to be a tumor suppressor. Required for the exosomalrelease of SDCBP, CD63 and syndecan (PubMed:22660413).{ECO:0000269|PubMed:11518722, ECO:0000269|PubMed:22660413}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for NSMCE2_EXT1 |
| 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_EXT1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| NSMCE2 | NSMCE1, SMC6, RAD21, STAG2, SMC5, SMC1A, SMC3, PDS5A, PDS5B, WAPAL, ETV1, TSNAX, PAN2, TXLNA, USP28, EID3, ZNF597, NDNL2, EWSR1, ILK, SORT1, NIPSNAP1, TM9SF4, SYNCRIP, SAMD1 | EXT1 | CNTF, OSTF1, EXT1, EXT2, TRAP1, PEX19, SYNE4, PLAUR, PTCH1, ERGIC3, NAAA, SCGB2A2, B4GAT1, MPPE1, CRP, SYP, GAA, SLC39A5, TFR2, NRROS, TOR1AIP2, CD79B, FBXW7, NOTCH1 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for NSMCE2_EXT1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for NSMCE2_EXT1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | EXT1 | C0015306 | Hereditary Multiple Exostoses | 8 | CTD_human;HPO;ORPHANET;UNIPROT |
| Tgene | EXT1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | EXT1 | C0008479 | Chondrosarcoma | 1 | CTD_human;HPO;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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