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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: 16125

FusionGeneSummary for HEXA_HEXA

check button Fusion gene summary
Fusion gene informationFusion gene name: HEXA_HEXA
Fusion gene ID: 16125
HgeneTgene
Gene symbol

HEXA

HEXA

Gene ID

3073

3073

Gene namehexosaminidase subunit alphahexosaminidase subunit alpha
SynonymsTSDTSD
Cytomap

15q23

15q23

Type of geneprotein-codingprotein-coding
Descriptionbeta-hexosaminidase subunit alphaN-acetyl-beta-glucosaminidase subunit alphabeta-N-acetylhexosaminidase subunit alphahexosaminidase A (alpha polypeptide)hexosaminidase subunit Abeta-hexosaminidase subunit alphaN-acetyl-beta-glucosaminidase subunit alphabeta-N-acetylhexosaminidase subunit alphahexosaminidase A (alpha polypeptide)hexosaminidase subunit A
Modification date2018051920180519
UniProtAcc

P06865

P06865

Ensembl transtripts involved in fusion geneENST00000268097, ENST00000566304, 
ENST00000457859, ENST00000567159, 
ENST00000429918, ENST00000567213, 
ENST00000268097, ENST00000566304, 
ENST00000457859, ENST00000567159, 
ENST00000429918, ENST00000567213, 
Fusion gene scores* DoF score5 X 5 X 3=753 X 4 X 2=24
# samples 64
** MAII scorelog2(6/75*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: HEXA [Title/Abstract] AND HEXA [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
HgeneHEXA

GO:0006024

glycosaminoglycan biosynthetic process

25645918

TgeneHEXA

GO:0006024

glycosaminoglycan biosynthetic process

25645918


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
ChiTaRS3.1BU677061HEXAchr15

72635997

+HEXAchr15

72636259

-
ChiTaRS3.1BI007093HEXAchr15

72639096

-HEXAchr15

72639216

+
* 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
intron-3UTRENST00000268097ENST00000268097HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000268097ENST00000566304HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000268097ENST00000457859HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000268097ENST00000567159HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000268097ENST00000429918HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000268097ENST00000567213HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-3UTRENST00000566304ENST00000268097HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000566304ENST00000566304HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000566304ENST00000457859HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000566304ENST00000567159HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000566304ENST00000429918HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000566304ENST00000567213HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-3UTRENST00000457859ENST00000268097HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000457859ENST00000566304HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000457859ENST00000457859HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000457859ENST00000567159HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000457859ENST00000429918HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000457859ENST00000567213HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-3UTRENST00000567159ENST00000268097HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000567159ENST00000566304HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000567159ENST00000457859HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000567159ENST00000567159HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000567159ENST00000429918HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000567159ENST00000567213HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-3UTRENST00000429918ENST00000268097HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000429918ENST00000566304HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000429918ENST00000457859HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000429918ENST00000567159HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000429918ENST00000429918HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000429918ENST00000567213HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-3UTRENST00000567213ENST00000268097HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000567213ENST00000566304HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000567213ENST00000457859HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000567213ENST00000567159HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000567213ENST00000429918HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000567213ENST00000567213HEXAchr15

72635997

+HEXAchr15

72636259

-
intron-intronENST00000268097ENST00000268097HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000268097ENST00000566304HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000268097ENST00000457859HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000268097ENST00000567159HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000268097ENST00000429918HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000268097ENST00000567213HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000566304ENST00000268097HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000566304ENST00000566304HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000566304ENST00000457859HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000566304ENST00000567159HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000566304ENST00000429918HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000566304ENST00000567213HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000457859ENST00000268097HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000457859ENST00000566304HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000457859ENST00000457859HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000457859ENST00000567159HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000457859ENST00000429918HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000457859ENST00000567213HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000567159ENST00000268097HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000567159ENST00000566304HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000567159ENST00000457859HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000567159ENST00000567159HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000567159ENST00000429918HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000567159ENST00000567213HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000429918ENST00000268097HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000429918ENST00000566304HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000429918ENST00000457859HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000429918ENST00000567159HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000429918ENST00000429918HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000429918ENST00000567213HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000567213ENST00000268097HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000567213ENST00000566304HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000567213ENST00000457859HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000567213ENST00000567159HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000567213ENST00000429918HEXAchr15

72639096

-HEXAchr15

72639216

+
intron-intronENST00000567213ENST00000567213HEXAchr15

72639096

-HEXAchr15

72639216

+

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FusionProtFeatures for HEXA_HEXA


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

P06865

HEXA

P06865

Responsible for the degradation of GM2 gangliosides, anda variety of other molecules containing terminal N-acetylhexosamines, in the brain and other tissues. The form B is activeagainst certain oligosaccharides. The form S has no measurableactivity. Responsible for the degradation of GM2 gangliosides, anda variety of other molecules containing terminal N-acetylhexosamines, in the brain and other tissues. The form B is activeagainst certain oligosaccharides. The form S has no measurableactivity.

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 HEXA_HEXA


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 HEXA_HEXA


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


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 HEXA_HEXA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for HEXA_HEXA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHEXAC0039373Tay-Sachs Disease22CTD_human;UNIPROT
HgeneHEXAC3714756Intellectual Disability1CTD_human
TgeneHEXAC0039373Tay-Sachs Disease22CTD_human;UNIPROT
TgeneHEXAC3714756Intellectual Disability1CTD_human