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Fusion gene ID: 4224 |
FusionGeneSummary for BMI1_SEC61A2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BMI1_SEC61A2 | Fusion gene ID: 4224 | Hgene | Tgene | Gene symbol | BMI1 | SEC61A2 | Gene ID | 648 | 55176 |
| Gene name | BMI1 proto-oncogene, polycomb ring finger | Sec61 translocon alpha 2 subunit | |
| Synonyms | FLVI2/BMI1|PCGF4|RNF51|flvi-2/bmi-1 | - | |
| Cytomap | 10p12.2 | 10p14 | |
| Type of gene | protein-coding | protein-coding | |
| Description | polycomb complex protein BMI-1B lymphoma Mo-MLV insertion region 1 homologBMI1 polycomb ring finger oncogeneBMI1 polycomb ring finger proto-oncogenemurine leukemia viral (bmi-1) oncogene homologpolycomb group RING finger protein 4polycomb group prot | protein transport protein Sec61 subunit alpha isoform 2Sec61 alpha 2 subunitSec61 alpha form 2protein transport protein Sec61 subunit alphasec61 alpha-2 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P35226 | Q9H9S3 | |
| Ensembl transtripts involved in fusion gene | ENST00000376663, | ENST00000379051, ENST00000379033, ENST00000298428, ENST00000495368, ENST00000304267, ENST00000379020, ENST00000379017, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 4 X 2=24 |
| # samples | 1 | 3 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(3/24*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: BMI1 [Title/Abstract] AND SEC61A2 [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) |
| 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 |
| Hgene | BMI1 | GO:0051443 | positive regulation of ubiquitin-protein transferase activity | 16714294 |
| 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 | LD | LGG | TCGA-TM-A84J-01A | BMI1 | chr10 | 22610625 | + | SEC61A2 | chr10 | 12198906 | + |
| * 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 |
| 5UTR-intron | ENST00000376663 | ENST00000379051 | BMI1 | chr10 | 22610625 | + | SEC61A2 | chr10 | 12198906 | + |
| 5UTR-intron | ENST00000376663 | ENST00000379033 | BMI1 | chr10 | 22610625 | + | SEC61A2 | chr10 | 12198906 | + |
| 5UTR-intron | ENST00000376663 | ENST00000298428 | BMI1 | chr10 | 22610625 | + | SEC61A2 | chr10 | 12198906 | + |
| 5UTR-3UTR | ENST00000376663 | ENST00000495368 | BMI1 | chr10 | 22610625 | + | SEC61A2 | chr10 | 12198906 | + |
| 5UTR-3UTR | ENST00000376663 | ENST00000304267 | BMI1 | chr10 | 22610625 | + | SEC61A2 | chr10 | 12198906 | + |
| 5UTR-3UTR | ENST00000376663 | ENST00000379020 | BMI1 | chr10 | 22610625 | + | SEC61A2 | chr10 | 12198906 | + |
| 5UTR-intron | ENST00000376663 | ENST00000379017 | BMI1 | chr10 | 22610625 | + | SEC61A2 | chr10 | 12198906 | + |
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FusionProtFeatures for BMI1_SEC61A2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BMI1 | SEC61A2 |
| Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain thetranscriptionally repressive state of many genes, including Hoxgenes, throughout development. PcG PRC1 complex acts via chromatinremodeling and modification of histones; it mediatesmonoubiquitination of histone H2A 'Lys-119', rendering chromatinheritably changed in its expressibility (PubMed:15386022,PubMed:16359901, PubMed:26151332, PubMed:16714294,PubMed:21772249, PubMed:25355358, PubMed:27827373). The complexcomposed of RNF2, UB2D3 and BMI1 binds nucleosomes, and hasactivity only with nucleosomal histone H2A (PubMed:21772249,PubMed:25355358). In the PRC1-like complex, regulates the E3ubiquitin-protein ligase activity of RNF2/RING2 (PubMed:15386022,PubMed:26151332, PubMed:21772249). {ECO:0000269|PubMed:15386022,ECO:0000269|PubMed:16359901, ECO:0000269|PubMed:16714294,ECO:0000269|PubMed:16882984, ECO:0000269|PubMed:21772249,ECO:0000269|PubMed:25355358, ECO:0000269|PubMed:26151332,ECO:0000269|PubMed:27827373}. | Appears to play a crucial role in the insertion ofsecretory and membrane polypeptides into the ER. It is requiredfor assembly of membrane and secretory proteins. Found to betightly associated with membrane-bound ribosomes, either directlyor through adaptor proteins (By similarity). {ECO:0000250}. |
| 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 BMI1_SEC61A2 |
| 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 BMI1_SEC61A2 |
| 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 |
| BMI1 | KMT2A, CBX4, RING1, PHC1, BMI1, PHC2, E2F6, ZBTB16, IMMT, KIAA1377, PTN, KAT5, LRIF1, RNF2, GATA3, UBE2I, HIST2H2AC, CBX7, PHC3, CBX2, CBX8, FOXS1, CDC6, SPOP, CUL3, CENPA, ATM, XRCC5, PARP1, PRKDC, USP7, USP11, HIST2H2AA3, TOP2A, BTRC, H2AFX, UBE2D3, MAPK14, ELAVL1, RYBP, YAF2, CBX6, SCMH1, AGXT, TUSC3, MAPKAPK3, PTEN, PCGF6, TP53, CSNK2B, SOX2, VPS11, PCGF3, RNF114, TRIM27, SOCS2, RRM1, NDEL1, HIST3H3, EED, YLPM1, ILF3, TAF15, TDRD1, UPF1, ADAR, FAM208A, SON, FUS, THRAP3, ZNF638, NUMA1, EWSR1, PLEC, FAM120A, PABPC4, HIST4H4, EFTUD2, HELZ, ILF2, NCBP1, TRA2A, NCL, BCLAF1, HELZ2, SCAF11, SAFB2, SLTM, SRRT, EIF4A3, TRIM28, NCOA5, YBX1, KHDRBS1, ACTG1, DAZAP1, DYNC1H1, YBX3, ACIN1, RTCB, RALY, CHERP, SUGP2, PKP1, PPHLN1, KHDRBS3, AQR, C14orf166, WDR33, PTBP1, MSI2, ATXN2, CAPRIN1, DROSHA, ZNF326, GEMIN5, SUPT6H, MAGOH, PUM2, CIRBP, SMARCA4, AKAP8, H2AFY, SKIV2L2, ZC3HAV1, TARDBP, NUDT16L1, HIST1H2BB, PRRC2A, G3BP1, SMU1, HIST1H2BD, G3BP2, CIZ1, MYBBP1A, SPEN, KLHL8, SMARCA2, SMN1, PSPC1, PAIP1, ERH, MYEF2, YTHDC1, NOP58, ZCCHC8, YTHDF1, TIAL1, AKAP8L, ACACA, GNB2L1, CHD4, PHF3, LIMA1, C17orf85, ZC3H13, TNRC6B, GCN1L1, DDX39B, FBL, POTEE, AGO2, DKC1, YTHDF2, CALM1, CHTOP, ATXN2L, PHF5A, AR, STRBP, SSB, CSRP1, PTBP3, FXR2, PUM1, NCBP2, RBFOX2, ARG1, SART3, PDCD11, LRPPRC, ZFR, ELAVL2, CNBP, XRN2, PLRG1, ZC3H4, NOL6, STAU1, UBAP2L, SYNE1, ENOX1, CRNKL1, KIAA1429, KTN1, RANBP2, SLC39A7, SAP18, RYR3, REPIN1, CASC3, NUFIP2, EP300, YY1, HP1BP3, NHP2, CKMT1B, ADNP, PURB, NHP2L1, CTCF, SRPK2, CREBBP, ZNF787, PAXBP1, CAPZB, TRIM25, CPEB4, PURA, SERPINB12, DGCR8, RNPS1, STAU2, SUGP1, PABPN1, PPIL1, ZC3H7A, TFIP11, P4HB, BUD31, ACTN1, KRR1, PRKRA, ENOX2, APOBEC3F, ATP5B, SNW1, MED12, KIF26B, DYNLL1, MPHOSPH8, RRP12, HEATR1, UTP20, RUVBL2, TGM1, TIA1, SUPT16H, CSRP2, WDR12, YTHDF3, UBL5, SS18L1, ATP5I, ZNF385B, ZC3H11A, C10orf2, TRAF4, STRAP, PCNP, GPATCH8, ADARB1, AKAP9, DPF2, PGAM5, LAS1L, PDLIM5, NOP14, SLC25A11, EDC4, GATA2, GEMIN4, GIGYF2, HSPA1A, XRN1, TERF2, GTF3C1, ESRP1, EEA1, DIDO1, AARS2, SMARCC1, MRM1, IK, PRDX4, NME1, NAT10, TUFM, DBN1, AGK, CCT3, SFXN1, SEC31B, PHF6, PPIE, PTCD3, NDUFA4, SLC25A10, FXR1, CELF1, SMARCA5, AGO1, NKRF, CSTF1, CHD3, ACTL6A, ZNF687, WBP11, WDR5, SSR4, GEMIN2, SRP14, RSRC1, ATP2A3, PYCR1, NOL9, MRTO4, TIMM50, EHMT1, FAM98B, RPN1, DIS3L2, PHGDH, KIAA1244, YARS2, RBM14, PTPLAD1, TMEM41B, NFX1, CFAP20, PSMB5, PKP2, PPIB, NME4, NXF1, LUC7L3, LENG8, CTNND1, ABCB6, AIFM1, MEPCE, ZNF740, ZCCHC3, SMARCD2, SRP9, RCN1, NOP10, DUSP14, CLN6, CANX, RPLP1, ZC3HAV1L, DUSP11, MBNL2, INTS6, H1FX, DPM1, MLLT1, SCML2, TRIM37, NBN, PCGF1, CBX5, LMNA, LMNB2, DEK, BANF1, BAZ1A, CENPV, NUP93, KPNB1, KPNA2, HDAC2, BAZ1B, ATRX, CDKN3, HIST1H3A, HIST1H1A, HIST1H2AB, MUC1, UBR5, CBX3, HNF4A, PCGF2, RPL7, SFTPC, DEFA5, UHRF2, PCBP2-OT1 | SEC61A2 | USP19, CLN3, CFTR, PTPN5, PTPRE, PTPRN, PTPRO |
| - 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 BMI1_SEC61A2 |
| 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 BMI1_SEC61A2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BMI1 | C0017636 | Glioblastoma | 1 | CTD_human |
| Hgene | BMI1 | C0017638 | Glioma | 1 | CTD_human |
| Hgene | BMI1 | C0023472 | Leukemia, Myeloid, Accelerated Phase | 1 | CTD_human |
| Hgene | BMI1 | C0027686 | Pathologic Neovascularization | 1 | CTD_human |
| Hgene | BMI1 | C0029463 | Osteosarcoma | 1 | CTD_human |
| Hgene | BMI1 | C3463824 | MYELODYSPLASTIC SYNDROME | 1 | CTD_human |
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