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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 24892

FusionGeneSummary for NSA2_HEXB

check button Fusion gene summary
Fusion gene informationFusion gene name: NSA2_HEXB
Fusion gene ID: 24892
HgeneTgene
Gene symbol

NSA2

HEXB

Gene ID

10412

3074

Gene nameNSA2, ribosome biogenesis homologhexosaminidase subunit beta
SynonymsCDK105|HCL-G1|HCLG1|HUSSY-29|HUSSY29|TINP1ENC-1AS|HEL-248|HEL-S-111
Cytomap

5q13.3

5q13.3

Type of geneprotein-codingprotein-coding
Descriptionribosome biogenesis protein NSA2 homologTGF beta-inducible nuclear protein 1TGF-beta inducible nuclear proteinhairy cell leukemia protein 1beta-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 date2018052320180519
UniProtAcc

O95478

P07686

Ensembl transtripts involved in fusion geneENST00000296802, ENST00000513356, 
ENST00000511181, ENST00000261416, 
ENST00000513539, ENST00000509579, 
Fusion gene scores* DoF score7 X 4 X 4=1122 X 2 X 1=4
# samples 42
** MAII scorelog2(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 annotationOncogene 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBRCATCGA-BH-A0AV-01ANSA2chr5

74066635

+HEXBchr5

74009331

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000296802ENST00000511181NSA2chr5

74066635

+HEXBchr5

74009331

+
In-frameENST00000296802ENST00000261416NSA2chr5

74066635

+HEXBchr5

74009331

+
5CDS-intronENST00000296802ENST00000513539NSA2chr5

74066635

+HEXBchr5

74009331

+
5CDS-intronENST00000296802ENST00000509579NSA2chr5

74066635

+HEXBchr5

74009331

+
3UTR-3CDSENST00000513356ENST00000511181NSA2chr5

74066635

+HEXBchr5

74009331

+
3UTR-3CDSENST00000513356ENST00000261416NSA2chr5

74066635

+HEXBchr5

74009331

+
3UTR-intronENST00000513356ENST00000513539NSA2chr5

74066635

+HEXBchr5

74009331

+
3UTR-intronENST00000513356ENST00000509579NSA2chr5

74066635

+HEXBchr5

74009331

+

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FusionProtFeatures for NSA2_HEXB


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NSA2

O95478

HEXB

P07686

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.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNSA2chr5:74066635chr5:74009331ENST00000296802+4623_152174261Compositional biasNote=Lys-rich
HgeneNSA2chr5:74066635chr5:74009331ENST00000296802+4611_18174261MotifNuclear localization signal

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for NSA2_HEXB


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
NSA2SIRT7, 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, UBE2AHEXBHEXB, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for NSA2_HEXB


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneHEXBP07686DB00205PyrimethamineBeta-hexosaminidase subunit betasmall moleculeapproved|investigational|vet_approved

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RelatedDiseases for NSA2_HEXB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNSA2C0023892Biliary cirrhosis1CTD_human
TgeneHEXBC0036161Sandhoff Disease8CTD_human;UNIPROT
TgeneHEXBC2609414Acute kidney injury1CTD_human