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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: 15001

FusionGeneSummary for GNPTAB_GNPTAB

check button Fusion gene summary
Fusion gene informationFusion gene name: GNPTAB_GNPTAB
Fusion gene ID: 15001
HgeneTgene
Gene symbol

GNPTAB

GNPTAB

Gene ID

79158

79158

Gene nameN-acetylglucosamine-1-phosphate transferase subunits alpha and betaN-acetylglucosamine-1-phosphate transferase subunits alpha and beta
SynonymsGNPTA|ICDGNPTA|ICD
Cytomap

12q23.2

12q23.2

Type of geneprotein-codingprotein-coding
DescriptionN-acetylglucosamine-1-phosphotransferase subunits alpha/betaGlcNAc phosphotransferaseN-acetylglucosamine-1-phosphate transferase alpha and beta subunitsUDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/betaUDP-N-acetylglucosamine-lysosomal-eN-acetylglucosamine-1-phosphotransferase subunits alpha/betaGlcNAc phosphotransferaseN-acetylglucosamine-1-phosphate transferase alpha and beta subunitsUDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/betaUDP-N-acetylglucosamine-lysosomal-e
Modification date2018052320180523
UniProtAcc

Q3T906

Q3T906

Ensembl transtripts involved in fusion geneENST00000299314, ENST00000549940, 
ENST00000392919, ENST00000549165, 
ENST00000299314, ENST00000549940, 
ENST00000392919, ENST00000549165, 
Fusion gene scores* DoF score8 X 8 X 4=2567 X 8 X 4=224
# samples 99
** MAII scorelog2(9/256*10)=-1.50814690367033
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/224*10)=-1.31550182572793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GNPTAB [Title/Abstract] AND GNPTAB [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
HgeneGNPTAB

GO:0046835

carbohydrate phosphorylation

19955174|23733939

TgeneGNPTAB

GO:0046835

carbohydrate phosphorylation

19955174|23733939


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
ChiTaRS3.1BE164968GNPTABchr12

102163905

+GNPTABchr12

102164299

-
ChiTaRS3.1CA503168GNPTABchr12

102139497

+GNPTABchr12

102139545

-
* 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-3CDSENST00000299314ENST00000299314GNPTABchr12

102163905

+GNPTABchr12

102164299

-
intron-3CDSENST00000299314ENST00000549940GNPTABchr12

102163905

+GNPTABchr12

102164299

-
intron-intronENST00000299314ENST00000392919GNPTABchr12

102163905

+GNPTABchr12

102164299

-
intron-intronENST00000299314ENST00000549165GNPTABchr12

102163905

+GNPTABchr12

102164299

-
intron-3CDSENST00000549940ENST00000299314GNPTABchr12

102163905

+GNPTABchr12

102164299

-
intron-3CDSENST00000549940ENST00000549940GNPTABchr12

102163905

+GNPTABchr12

102164299

-
intron-intronENST00000549940ENST00000392919GNPTABchr12

102163905

+GNPTABchr12

102164299

-
intron-intronENST00000549940ENST00000549165GNPTABchr12

102163905

+GNPTABchr12

102164299

-
intron-3CDSENST00000392919ENST00000299314GNPTABchr12

102163905

+GNPTABchr12

102164299

-
intron-3CDSENST00000392919ENST00000549940GNPTABchr12

102163905

+GNPTABchr12

102164299

-
intron-intronENST00000392919ENST00000392919GNPTABchr12

102163905

+GNPTABchr12

102164299

-
intron-intronENST00000392919ENST00000549165GNPTABchr12

102163905

+GNPTABchr12

102164299

-
intron-3CDSENST00000549165ENST00000299314GNPTABchr12

102163905

+GNPTABchr12

102164299

-
intron-3CDSENST00000549165ENST00000549940GNPTABchr12

102163905

+GNPTABchr12

102164299

-
intron-intronENST00000549165ENST00000392919GNPTABchr12

102163905

+GNPTABchr12

102164299

-
intron-intronENST00000549165ENST00000549165GNPTABchr12

102163905

+GNPTABchr12

102164299

-
intron-3UTRENST00000299314ENST00000299314GNPTABchr12

102139497

+GNPTABchr12

102139545

-
intron-intronENST00000299314ENST00000549940GNPTABchr12

102139497

+GNPTABchr12

102139545

-
intron-intronENST00000299314ENST00000392919GNPTABchr12

102139497

+GNPTABchr12

102139545

-
intron-intronENST00000299314ENST00000549165GNPTABchr12

102139497

+GNPTABchr12

102139545

-
intron-3UTRENST00000549940ENST00000299314GNPTABchr12

102139497

+GNPTABchr12

102139545

-
intron-intronENST00000549940ENST00000549940GNPTABchr12

102139497

+GNPTABchr12

102139545

-
intron-intronENST00000549940ENST00000392919GNPTABchr12

102139497

+GNPTABchr12

102139545

-
intron-intronENST00000549940ENST00000549165GNPTABchr12

102139497

+GNPTABchr12

102139545

-
intron-3UTRENST00000392919ENST00000299314GNPTABchr12

102139497

+GNPTABchr12

102139545

-
intron-intronENST00000392919ENST00000549940GNPTABchr12

102139497

+GNPTABchr12

102139545

-
intron-intronENST00000392919ENST00000392919GNPTABchr12

102139497

+GNPTABchr12

102139545

-
intron-intronENST00000392919ENST00000549165GNPTABchr12

102139497

+GNPTABchr12

102139545

-
intron-3UTRENST00000549165ENST00000299314GNPTABchr12

102139497

+GNPTABchr12

102139545

-
intron-intronENST00000549165ENST00000549940GNPTABchr12

102139497

+GNPTABchr12

102139545

-
intron-intronENST00000549165ENST00000392919GNPTABchr12

102139497

+GNPTABchr12

102139545

-
intron-intronENST00000549165ENST00000549165GNPTABchr12

102139497

+GNPTABchr12

102139545

-

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FusionProtFeatures for GNPTAB_GNPTAB


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

Q3T906

GNPTAB

Q3T906

Catalyzes the formation of mannose 6-phosphate (M6P)markers on high mannose type oligosaccharides in the Golgiapparatus. M6P residues are required to bind to the M6P receptors(MPR), which mediate the vesicular transport of lysosomal enzymesto the endosomal/prelysosomal compartment.{ECO:0000269|PubMed:19955174, ECO:0000269|PubMed:23733939,ECO:0000269|PubMed:28918368}. Catalyzes the formation of mannose 6-phosphate (M6P)markers on high mannose type oligosaccharides in the Golgiapparatus. M6P residues are required to bind to the M6P receptors(MPR), which mediate the vesicular transport of lysosomal enzymesto the endosomal/prelysosomal compartment.{ECO:0000269|PubMed:19955174, ECO:0000269|PubMed:23733939,ECO:0000269|PubMed:28918368}.

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 GNPTAB_GNPTAB


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 GNPTAB_GNPTAB


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 GNPTAB_GNPTAB


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 GNPTAB_GNPTAB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGNPTABC0033788Pseudo-Hurler Polydystrophy14CTD_human;ORPHANET;UNIPROT
HgeneGNPTABC2673377MUCOLIPIDOSIS II ALPHA/BETA (disorder)10CTD_human;UNIPROT
TgeneGNPTABC0033788Pseudo-Hurler Polydystrophy14CTD_human;ORPHANET;UNIPROT
TgeneGNPTABC2673377MUCOLIPIDOSIS II ALPHA/BETA (disorder)10CTD_human;UNIPROT