![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 24946 |
FusionGeneSummary for NSMCE2_PACRG |
![]() |
Fusion gene information | Fusion gene name: NSMCE2_PACRG | Fusion gene ID: 24946 | Hgene | Tgene | Gene symbol | NSMCE2 | PACRG | Gene ID | 286053 | 135138 |
Gene name | NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase | parkin coregulated | |
Synonyms | C8orf36|MMS21|NSE2|ZMIZ7 | GLUP|HAK005771|PARK2CRG | |
Cytomap | 8q24.13 | 6q26 | |
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 | parkin coregulated gene proteinPARK2 co-regulatedPARK2 coregulatedmolecular chaperone/chaperonin-binding proteinparkin co-regulated gene protein | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q96MF7 | Q96M98 | |
Ensembl transtripts involved in fusion gene | ENST00000287437, ENST00000522563, ENST00000517315, ENST00000521460, | ENST00000337019, ENST00000366889, ENST00000366888, ENST00000542669, | |
Fusion gene scores | * DoF score | 12 X 8 X 6=576 | 8 X 6 X 11=528 |
# samples | 11 | 12 | |
** MAII score | log2(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 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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | HNSC | TCGA-BA-4077-01B | NSMCE2 | chr8 | 126114729 | + | PACRG | chr6 | 163235179 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000337019 | NSMCE2 | chr8 | 126114729 | + | PACRG | chr6 | 163235179 | + |
Frame-shift | ENST00000287437 | ENST00000366889 | NSMCE2 | chr8 | 126114729 | + | PACRG | chr6 | 163235179 | + |
Frame-shift | ENST00000287437 | ENST00000366888 | NSMCE2 | chr8 | 126114729 | + | PACRG | chr6 | 163235179 | + |
5CDS-3UTR | ENST00000287437 | ENST00000542669 | NSMCE2 | chr8 | 126114729 | + | PACRG | chr6 | 163235179 | + |
Frame-shift | ENST00000522563 | ENST00000337019 | NSMCE2 | chr8 | 126114729 | + | PACRG | chr6 | 163235179 | + |
Frame-shift | ENST00000522563 | ENST00000366889 | NSMCE2 | chr8 | 126114729 | + | PACRG | chr6 | 163235179 | + |
Frame-shift | ENST00000522563 | ENST00000366888 | NSMCE2 | chr8 | 126114729 | + | PACRG | chr6 | 163235179 | + |
5CDS-3UTR | ENST00000522563 | ENST00000542669 | NSMCE2 | chr8 | 126114729 | + | PACRG | chr6 | 163235179 | + |
intron-3CDS | ENST00000517315 | ENST00000337019 | NSMCE2 | chr8 | 126114729 | + | PACRG | chr6 | 163235179 | + |
intron-3CDS | ENST00000517315 | ENST00000366889 | NSMCE2 | chr8 | 126114729 | + | PACRG | chr6 | 163235179 | + |
intron-3CDS | ENST00000517315 | ENST00000366888 | NSMCE2 | chr8 | 126114729 | + | PACRG | chr6 | 163235179 | + |
intron-3UTR | ENST00000517315 | ENST00000542669 | NSMCE2 | chr8 | 126114729 | + | PACRG | chr6 | 163235179 | + |
intron-3CDS | ENST00000521460 | ENST00000337019 | NSMCE2 | chr8 | 126114729 | + | PACRG | chr6 | 163235179 | + |
intron-3CDS | ENST00000521460 | ENST00000366889 | NSMCE2 | chr8 | 126114729 | + | PACRG | chr6 | 163235179 | + |
intron-3CDS | ENST00000521460 | ENST00000366888 | NSMCE2 | chr8 | 126114729 | + | PACRG | chr6 | 163235179 | + |
intron-3UTR | ENST00000521460 | ENST00000542669 | NSMCE2 | chr8 | 126114729 | + | PACRG | chr6 | 163235179 | + |
Top |
FusionProtFeatures for NSMCE2_PACRG |
![]() |
Hgene | Tgene |
NSMCE2 | PACRG |
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}. |
![]() * 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 |
Top |
FusionGeneSequence for NSMCE2_PACRG |
![]() (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_PACRG |
![]() |
![]() |
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 | PACRG | HSP90AA1, CCT3, CCT4, CCT5, TCP1, CCT6A, CCT7, CCT2, TUBA1A, TUBB, HSPA4, PARK2, STUB1, DNAJA1, VCP, GPR37, APP, KLHL36, TP53, STIP1, CCDC40 |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for NSMCE2_PACRG |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for NSMCE2_PACRG |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |