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Fusion gene ID: 35492 |
FusionGeneSummary for SP2_KPNB1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SP2_KPNB1 | Fusion gene ID: 35492 | Hgene | Tgene | Gene symbol | SP2 | KPNB1 | Gene ID | 6668 | 3837 |
| Gene name | Sp2 transcription factor | karyopherin subunit beta 1 | |
| Synonyms | - | IMB1|IPO1|IPOB|Impnb|NTF97 | |
| Cytomap | 17q21.32 | 17q21.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor Sp2 | importin subunit beta-1PTAC97importin 1importin 90importin beta-1 subunitkaryopherin (importin) beta 1nuclear factor p97pore targeting complex 97 kDa subunit | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q02086 | Q14974 | |
| Ensembl transtripts involved in fusion gene | ENST00000376741, | ENST00000535458, ENST00000290158, ENST00000540627, ENST00000537679, ENST00000577918, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 9 X 10 X 5=450 |
| # samples | 2 | 10 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(10/450*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SP2 [Title/Abstract] AND KPNB1 [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 | SP2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10744779 |
| Tgene | KPNB1 | GO:0006606 | protein import into nucleus | 15964792 |
| Tgene | KPNB1 | GO:0006610 | ribosomal protein import into nucleus | 9687515 |
| 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 | LIHC | TCGA-ED-A7PX-01A | SP2 | chr17 | 45975293 | + | KPNB1 | chr17 | 45747044 | + |
| * 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 |
| intron-3CDS | ENST00000376741 | ENST00000535458 | SP2 | chr17 | 45975293 | + | KPNB1 | chr17 | 45747044 | + |
| intron-3CDS | ENST00000376741 | ENST00000290158 | SP2 | chr17 | 45975293 | + | KPNB1 | chr17 | 45747044 | + |
| intron-3CDS | ENST00000376741 | ENST00000540627 | SP2 | chr17 | 45975293 | + | KPNB1 | chr17 | 45747044 | + |
| intron-3CDS | ENST00000376741 | ENST00000537679 | SP2 | chr17 | 45975293 | + | KPNB1 | chr17 | 45747044 | + |
| intron-intron | ENST00000376741 | ENST00000577918 | SP2 | chr17 | 45975293 | + | KPNB1 | chr17 | 45747044 | + |
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FusionProtFeatures for SP2_KPNB1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SP2 | KPNB1 |
| Binds to GC box promoters elements and selectivelyactivates mRNA synthesis from genes that contain functionalrecognition sites. | Functions in nuclear protein import, either inassociation with an adapter protein, like an importin-alphasubunit, which binds to nuclear localization signals (NLS) incargo substrates, or by acting as autonomous nuclear transportreceptor. Acting autonomously, serves itself as NLS receptor.Docking of the importin/substrate complex to the nuclear porecomplex (NPC) is mediated by KPNB1 through binding to nucleoporinFxFG repeats and the complex is subsequently translocated throughthe pore by an energy requiring, Ran-dependent mechanism. At thenucleoplasmic side of the NPC, Ran binds to importin-beta and thethree components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysisreleases Ran from importin. The directionality of nuclear importis thought to be conferred by an asymmetric distribution of theGTP- and GDP-bound forms of Ran between the cytoplasm and nucleus.Mediates autonomously the nuclear import of ribosomal proteinsRPL23A, RPS7 and RPL5. Binds to a beta-like import receptorbinding (BIB) domain of RPL23A. In association with IPO7 mediatesthe nuclear import of H1 histone. In vitro, mediates nuclearimport of H2A, H2B, H3 and H4 histones. In case of HIV-1infection, binds and mediates the nuclear import of HIV-1 Rev.Imports SNAI1 and PRKCI into the nucleus.{ECO:0000269|PubMed:10228156, ECO:0000269|PubMed:11891849,ECO:0000269|PubMed:19386897, ECO:0000269|PubMed:24699649,ECO:0000269|PubMed:9687515}. |
| 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 SP2_KPNB1 |
| 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 SP2_KPNB1 |
| 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 |
| SP2 | E2F1, NR0B2, NKX3-1, ESR1, IRF1, APP, SOX2, HECW2, FHL2, MCM7, BANP, ZDHHC17 | KPNB1 | SREBF2, KPNA2, NUP153, RANBP2, RANBP1, NUP50, SMAD3, SMAD4, KPNA4, KPNA3, KPNA1, KPNA6, IPO7, IPO8, RUNX1T1, NUP62, NUP54, NUP98, RAN, TERF1, NUTF2, SMN1, PTHLH, LYST, TP53, SNUPN, FGFR1, CDT1, MEPCE, RUVBL2, RUVBL1, MLH1, PMS2, AIRE, PAPOLA, NRIP1, ING1, TPX2, NUP107, MGMT, HIST1H1C, SRY, FAN1, RCC1, MORF4L1, MORF4L2, MRGBP, TERF2, VIMP, KPNB1, AMFR, DERL1, UBC, MYC, PPP2CA, CD4, HDAC5, SPG20, CUL4B, MESDC2, EXO1, RAD21, NFATC1, TUBA1A, NFATC2, ELAVL1, ARRB2, SIRT7, RAPGEF3, CUL3, CDK2, COPS5, CAND1, CHD3, PIAS4, PTN, CD99, NXF1, DCAF8, RAE1, GRK5, NDN, IPO5, KPNA5, HSPA5, IPO9, BARD1, ECT2, MDC1, TP53BP1, NOTCH1, SMURF1, YWHAE, ERBB2, FN1, VCAM1, TAF10, TAF8, TAF3, NOS2, SMAD2, UBL4A, ITGA4, CFTR, AICDA, RASSF5, PTMA, ADRB2, SAMHD1, EGFR, CLK3, NLK, CDK11A, DYRK1B, FBXO6, CUL2, STAU1, HUWE1, FUS, MSL1, CUL7, OBSL1, CCDC8, EED, ITCH, RAC1, ILK, JAK2, NUSAP1, LGALS3, UNK, C11orf58, CSE1L, EXOSC2, IPO4, DIS3, NOP56, RPRD1B, SMC3, NCL, RANBP6, SF3B3, NTRK1, NUP85, LCA5, AHSA1, ALDH3A2, ETF1, GLE1, HADHB, SP110, KIFC1, UBE2I, DLGAP5, NSF, NUP88, RANGAP1, TAF4B, TAF11, SUMO1, RNF113A, NUP214, AAAS, CCNK, NUP155, NUP93, RUSC2, MED24, SLC27A2, NUPL2, NUP205, NUP210, NUP160, TMEM194A, NUP188, KIAA1429, UQCR10, SENP1, CERS2, TMEM214, CEP192, CEP55, SMPD4, NDC1, NUP133, THOC2, CHD8, NUP37, ZC3H14, SEH1L, LCOR, PLEKHA8, TMEM209, SERPINB12, YTHDC1, COMTD1, NUP35, CDCA2, NUP43, RGPD8, POM121C, NUMA1, CRY1, ZNF207, BUB3, MCM2, SNW1, CDC5L, SENP3, POU5F1, U2AF2, FAM204A, BMI1, CTDSPL2, PPM1D, TSR1, B2M, SIX2, HP1BP3, STOM, SENP2, MTNR1A, DLD, DLST, DNM1L, HSD17B10, PDHA1, SDHA, SOAT1, SOD1, VDAC1, G3BP1, BRCA1, MTA2 |
| - 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 SP2_KPNB1 |
| 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 SP2_KPNB1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | KPNB1 | C0019693 | HIV Infections | 1 | CTD_human |
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