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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: 16130

FusionGeneSummary for HEXB_SUPT16H

check button Fusion gene summary
Fusion gene informationFusion gene name: HEXB_SUPT16H
Fusion gene ID: 16130
HgeneTgene
Gene symbol

HEXB

SUPT16H

Gene ID

3074

11198

Gene namehexosaminidase subunit betaSPT16 homolog, facilitates chromatin remodeling subunit
SynonymsENC-1AS|HEL-248|HEL-S-111CDC68|FACTP140|SPT16|SPT16/CDC68
Cytomap

5q13.3

14q11.2

Type of geneprotein-codingprotein-coding
Descriptionbeta-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 proteiFACT complex subunit SPT16FACT 140 kDa subunitchromatin-specific transcription elongation factor 140 kDa subunitfacilitates chromatin remodeling 140 kDa subunitfacilitates chromatin transcription complex subunit SPT16hSPT16suppressor of Ty 16 homolo
Modification date2018051920180523
UniProtAcc

P07686

Q9Y5B9

Ensembl transtripts involved in fusion geneENST00000511181, ENST00000261416, 
ENST00000513539, ENST00000509579, 
ENST00000216297, ENST00000555943, 
Fusion gene scores* DoF score3 X 3 X 3=2737 X 4 X 15=2220
# samples 340
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(40/2220*10)=-2.47248777146274
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HEXB [Title/Abstract] AND SUPT16H [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)

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
TCGARVREADTCGA-DY-A1DD-01AHEXBchr5

74017113

+SUPT16Hchr14

21829491

-
* 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
5CDS-intronENST00000511181ENST00000216297HEXBchr5

74017113

+SUPT16Hchr14

21829491

-
5CDS-intronENST00000511181ENST00000555943HEXBchr5

74017113

+SUPT16Hchr14

21829491

-
5CDS-intronENST00000261416ENST00000216297HEXBchr5

74017113

+SUPT16Hchr14

21829491

-
5CDS-intronENST00000261416ENST00000555943HEXBchr5

74017113

+SUPT16Hchr14

21829491

-
5CDS-intronENST00000513539ENST00000216297HEXBchr5

74017113

+SUPT16Hchr14

21829491

-
5CDS-intronENST00000513539ENST00000555943HEXBchr5

74017113

+SUPT16Hchr14

21829491

-
5CDS-intronENST00000509579ENST00000216297HEXBchr5

74017113

+SUPT16Hchr14

21829491

-
5CDS-intronENST00000509579ENST00000555943HEXBchr5

74017113

+SUPT16Hchr14

21829491

-

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FusionProtFeatures for HEXB_SUPT16H


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

P07686

SUPT16H

Q9Y5B9

Responsible for the degradation of GM2 gangliosides, anda variety of other molecules containing terminal N-acetylhexosamines, in the brain and other tissues. Component of the FACT complex, a general chromatinfactor that acts to reorganize nucleosomes. The FACT complex isinvolved in multiple processes that require DNA as a template suchas mRNA elongation, DNA replication and DNA repair. Duringtranscription elongation the FACT complex acts as a histonechaperone that both destabilizes and restores nucleosomalstructure. It facilitates the passage of RNA polymerase II andtranscription by promoting the dissociation of one histone H2A-H2Bdimer from the nucleosome, then subsequently promotes thereestablishment of the nucleosome following the passage of RNApolymerase II. The FACT complex is probably also involved inphosphorylation of 'Ser-392' of p53/TP53 via its association withCK2 (casein kinase II). {ECO:0000269|PubMed:10912001,ECO:0000269|PubMed:11239457, ECO:0000269|PubMed:12934006,ECO:0000269|PubMed:16713563, ECO:0000269|PubMed:9489704,ECO:0000269|PubMed:9836642}.

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

- 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 HEXB_SUPT16H


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 HEXB_SUPT16H


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
HEXBHEXB, 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, HEXASUPT16HBRCC3, PRKAA1, POLR1A, POLR1E, SSRP1, CHD1L, MCM4, PAF1, PARP1, H2AFX, MKL1, H3F3A, TRIM33, TAL1, CDK9, SUPT16H, MMS22L, TONSL, SMARCAD1, SREK1, SOX2, HDGF, ELAVL1, XRCC5, CUL3, CDK2, CAND1, FYTTD1, CSNK2A1, CSNK2B, SAP18, RTF1, LEO1, TOP1, DHX15, CTR9, IK, PRPF4B, SNRPD2, NCSTN, S100A9, HNRNPM, NHP2L1, DDX21, PRPF6, SF3A1, SNRPD1, PRPF3, ACIN1, EEF1A1, RBM25, MSH6, PRPF8, USP39, MSH2, PSIP1, CENPA, ESR1, FMNL1, VCP, PNKP, CD81, IGSF8, ICAM1, SRPK2, FTH1, QRICH1, RNF20, ATRX, HIST1H2AB, MOV10, NXF1, BRCA1, CUL7, OBSL1, EED, RNF2, BMI1, SUMO2, ABCE1, RPA4, SPIN2B, RPA2, SPIN1, TIPIN, RNF146, POLB, APLF, HIST1H2BA, MAFF, FBXW11, BRD3, CDK12, HMGB1, IWS1, NAP1L1, PES1, SRRM1, CDK11A, HMGB2, HMGB3, KRI1, TOP2B, ZC3H18, SFN, NTRK1, IFI16, MED4, EWSR1, CEP97, CNTROB, SPICE1, CEP164, DCTN1, POC1B, STIL, HIST1H3E, DAXX, HNRNPU, NPM1, RPL10, ETAA1, CENPQ, NF2, NANOG, UBR5, SBF1, HIST1H3A, MACROD1, H2AFY2, XPC, XRCC6, HIST1H4A, NAA40, WDR76, ALX3, TEAD2, L3MBTL1, CETN1, SIX2, POLL, RPA3, WRN, COX15, DLD, PDHA1, VDAC1, TRIM25, YAP1, MTF1


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 HEXB_SUPT16H


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneHEXBP07686DB00205PyrimethamineBeta-hexosaminidase subunit betasmall moleculeapproved|investigational|vet_approved

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RelatedDiseases for HEXB_SUPT16H


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHEXBC0036161Sandhoff Disease8CTD_human;UNIPROT
HgeneHEXBC2609414Acute kidney injury1CTD_human