![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 24892 |
FusionGeneSummary for NSA2_HEXB |
![]() |
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) |
![]() |
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 | 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 |
![]() * 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 | + |
Top |
FusionProtFeatures for NSA2_HEXB |
![]() |
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. |
![]() * 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 |
Top |
FusionGeneSequence for NSA2_HEXB |
![]() (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 NSA2_HEXB |
![]() |
![]() |
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 |
![]() |
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 NSA2_HEXB |
![]() (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 |
Top |
RelatedDiseases for NSA2_HEXB |
![]() (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 |