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Fusion gene ID: 24892 |
FusionGeneSummary for NSA2_HEXB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NSA2_HEXB | Fusion gene ID: 24892 | Hgene | Tgene | Gene symbol | NSA2 | HEXB | Gene ID | 10412 | 3074 |
| Gene name | NSA2, ribosome biogenesis homolog | hexosaminidase subunit beta | |
| Synonyms | CDK105|HCL-G1|HCLG1|HUSSY-29|HUSSY29|TINP1 | ENC-1AS|HEL-248|HEL-S-111 | |
| Cytomap | 5q13.3 | 5q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ribosome biogenesis protein NSA2 homologTGF beta-inducible nuclear protein 1TGF-beta inducible nuclear proteinhairy cell leukemia protein 1 | beta-hexosaminidase subunit betaHCC-7N-acetyl-beta-glucosaminidase subunit betabeta-N-acetylhexosaminidase subunit betabeta-hexosaminidase beta-subunitcervical cancer proto-oncogene 7 proteinepididymis luminal protein 248epididymis secretory protei | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | O95478 | P07686 | |
| Ensembl transtripts involved in fusion gene | ENST00000296802, ENST00000513356, | ENST00000511181, ENST00000261416, ENST00000513539, ENST00000509579, | |
| Fusion gene scores | * DoF score | 7 X 4 X 4=112 | 2 X 2 X 1=4 |
| # samples | 4 | 2 | |
| ** MAII score | log2(4/112*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: NSA2 [Title/Abstract] AND HEXB [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. | ||
| * 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 |
| 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 | BRCA | TCGA-BH-A0AV-01A | NSA2 | chr5 | 74066635 | + | HEXB | chr5 | 74009331 | + |
| * 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 |
| In-frame | ENST00000296802 | ENST00000511181 | NSA2 | chr5 | 74066635 | + | HEXB | chr5 | 74009331 | + |
| In-frame | ENST00000296802 | ENST00000261416 | NSA2 | chr5 | 74066635 | + | HEXB | chr5 | 74009331 | + |
| 5CDS-intron | ENST00000296802 | ENST00000513539 | NSA2 | chr5 | 74066635 | + | HEXB | chr5 | 74009331 | + |
| 5CDS-intron | ENST00000296802 | ENST00000509579 | NSA2 | chr5 | 74066635 | + | HEXB | chr5 | 74009331 | + |
| 3UTR-3CDS | ENST00000513356 | ENST00000511181 | NSA2 | chr5 | 74066635 | + | HEXB | chr5 | 74009331 | + |
| 3UTR-3CDS | ENST00000513356 | ENST00000261416 | NSA2 | chr5 | 74066635 | + | HEXB | chr5 | 74009331 | + |
| 3UTR-intron | ENST00000513356 | ENST00000513539 | NSA2 | chr5 | 74066635 | + | HEXB | chr5 | 74009331 | + |
| 3UTR-intron | ENST00000513356 | ENST00000509579 | NSA2 | chr5 | 74066635 | + | HEXB | chr5 | 74009331 | + |
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FusionProtFeatures for NSA2_HEXB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NSA2 | HEXB |
| Involved in the biogenesis of the 60S ribosomal subunit.May play a part in the quality control of pre-60S particles (Bysimilarity). {ECO:0000250}. | Responsible for the degradation of GM2 gangliosides, anda variety of other molecules containing terminal N-acetylhexosamines, in the brain and other tissues. |
| 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 |
| Hgene | NSA2 | chr5:74066635 | chr5:74009331 | ENST00000296802 | + | 4 | 6 | 23_152 | 174 | 261 | Compositional bias | Note=Lys-rich |
| Hgene | NSA2 | chr5:74066635 | chr5:74009331 | ENST00000296802 | + | 4 | 6 | 11_18 | 174 | 261 | Motif | Nuclear localization signal |
| - 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 NSA2_HEXB |
| 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 NSA2_HEXB |
| 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 |
| NSA2 | SIRT7, IRAK3, RNF2, HIST1H1A, NOL12, RPL13, RPL26L1, NPM1, RRS1, PTCD3, PABPC4, MAGEA9B, GNL2, GTPBP4, MRPS9, CCDC86, MRTO4, RPS8, RSL24D1, TYW5, LIN28B, RPF2, NLE1, ZNF646, ZC3H3, PRR11, NOC2L, BRIX1, DDX18, DDX24, EBNA1BP2, EIF2S2, FTSJ3, KIAA0020, NIFK, NOP2, NOP56, PES1, RPL5, RPL27, SDAD1, IFI16, CNTROB, SPICE1, TMEM17, TMEM67, CAMKK1, RPL30, DGCR8, RPL37A, PDGFB, SART3, H2AFY2, GLTSCR2, RBM34, RBM4, CNBP, RPL18A, ZC3HAV1, MAK16, GPATCH4, WDR46, E4F1, FGF8, ZBTB48, RPS14, FGF3, RPL18, RPL7, ZCRB1, UPF1, UBE2A | HEXB | HEXB, CSNK2B, VCPKMT, FBXO6, BNIP2, EZR, FH, GTF3C4, ALDH1B1, TATDN1, UBR7, HK1, HK2, IPO5, IPO9, PDCD10, PROSC, RPL22, TUFM, ABCE1, GRB2, STIM1, STIM2, SOD1, TSNAX, SMC6, HEXA |
| - 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 NSA2_HEXB |
| 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 |
| Tgene | HEXB | P07686 | DB00205 | Pyrimethamine | Beta-hexosaminidase subunit beta | small molecule | approved|investigational|vet_approved |
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RelatedDiseases for NSA2_HEXB |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NSA2 | C0023892 | Biliary cirrhosis | 1 | CTD_human |
| Tgene | HEXB | C0036161 | Sandhoff Disease | 8 | CTD_human;UNIPROT |
| Tgene | HEXB | C2609414 | Acute kidney injury | 1 | CTD_human |
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