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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:GNPTG-HAGH (FusionGDB2 ID:33832)

Fusion Gene Summary for GNPTG-HAGH

check button Fusion gene summary
Fusion gene informationFusion gene name: GNPTG-HAGH
Fusion gene ID: 33832
HgeneTgene
Gene symbol

GNPTG

HAGH

Gene ID

84572

3029

Gene nameN-acetylglucosamine-1-phosphate transferase subunit gammahydroxyacylglutathione hydrolase
SynonymsC16orf27|GNPTAG|LP2537|RJD9GLO2|GLX2|GLXII|HAGH1
Cytomap

16p13.3

16p13.3

Type of geneprotein-codingprotein-coding
DescriptionN-acetylglucosamine-1-phosphotransferase subunit gammaN-acetylglucosamine-1-phosphate transferase gamma subunitUDP-N-acetylglucosamine-1-phosphotransferase subunit gammaglcNAc-1-phosphotransferase subunit gammahydroxyacylglutathione hydrolase, mitochondrialglyoxalase IIhydroxyacylglutathione hydroxylase
Modification date2020032220200313
UniProtAcc

Q9UJJ9

Q6PII5

Ensembl transtripts involved in fusion geneENST00000204679, ENST00000566709, 
ENST00000567398, ENST00000397353, 
ENST00000397356, ENST00000455446, 
Fusion gene scores* DoF score9 X 2 X 7=1264 X 2 X 4=32
# samples 94
** MAII scorelog2(9/126*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: GNPTG [Title/Abstract] AND HAGH [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGNPTG(1402307)-HAGH(1859834), # samples:2
Anticipated loss of major functional domain due to fusion event.GNPTG-HAGH seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
* 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
HgeneGNPTG

GO:0046835

carbohydrate phosphorylation

19955174

TgeneHAGH

GO:0006750

glutathione biosynthetic process

8550579


check buttonFusion gene breakpoints across GNPTG (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across HAGH (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LIHCTCGA-DD-AACX-01AGNPTGchr16

1402307

+HAGHchr16

1859834

-
ChimerDB4LIHCTCGA-DD-AAEH-01AGNPTGchr16

1402307

+HAGHchr16

1859834

-


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Fusion Gene ORF analysis for GNPTG-HAGH

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-5UTRENST00000204679ENST00000566709GNPTGchr16

1402307

+HAGHchr16

1859834

-
5CDS-5UTRENST00000204679ENST00000567398GNPTGchr16

1402307

+HAGHchr16

1859834

-
Frame-shiftENST00000204679ENST00000397353GNPTGchr16

1402307

+HAGHchr16

1859834

-
Frame-shiftENST00000204679ENST00000397356GNPTGchr16

1402307

+HAGHchr16

1859834

-
In-frameENST00000204679ENST00000455446GNPTGchr16

1402307

+HAGHchr16

1859834

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000204679GNPTGchr161402307+ENST00000455446HAGHchr161859834-81222137911122

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000204679ENST00000455446GNPTGchr161402307+HAGHchr161859834-0.120474760.8795252

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Fusion Genomic Features for GNPTG-HAGH


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for GNPTG-HAGH


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr16:1402307/chr16:1859834)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

Q9UJJ9

HAGH

Q6PII5

FUNCTION: Non-catalytic subunit of the N-acetylglucosamine-1-phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high mannose glycans of the acceptor to the catalytic alpha and beta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine-1-phosphate transfer to the oligosaccharides of acid hydrolase acceptors. {ECO:0000269|PubMed:10712439, ECO:0000269|PubMed:19955174}.FUNCTION: Hydrolase acting on ester bonds. {ECO:0000305}.

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
TgeneHAGHchr16:1402307chr16:1859834ENST00000397353710221_223201261.0RegionSubstrate binding
TgeneHAGHchr16:1402307chr16:1859834ENST00000397353710297_300201261.0RegionSubstrate binding
TgeneHAGHchr16:1402307chr16:1859834ENST0000039735669297_300249309.0RegionSubstrate binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneGNPTGchr16:1402307chr16:1859834ENST00000204679+311176_27959306.0DomainDMAP1-binding
HgeneGNPTGchr16:1402307chr16:1859834ENST00000204679+31169_17159306.0DomainMRH
TgeneHAGHchr16:1402307chr16:1859834ENST00000397353710191_193201261.0RegionSubstrate binding
TgeneHAGHchr16:1402307chr16:1859834ENST0000039735669191_193249309.0RegionSubstrate binding
TgeneHAGHchr16:1402307chr16:1859834ENST0000039735669221_223249309.0RegionSubstrate binding


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Fusion Gene Sequence for GNPTG-HAGH


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>33832_33832_1_GNPTG-HAGH_GNPTG_chr16_1402307_ENST00000204679_HAGH_chr16_1859834_ENST00000455446_length(transcript)=812nt_BP=221nt
TGACCGTCACTTCACGTGACCGCGCGGCGGCCGCTGCGGCGCGATGGCGGCGGGGCTGGCGCGGCTCCTGTTGCTCCTCGGGCTCTCGGC
CGGCGGGCCCGCGCCGGCAGGTGCAGCGAAGATGAAGGTGGTGGAGGAGCCCAACGCGTTTGGGGTGAACAACCCGTTCTTGCCTCAGGC
CAGTCGCCTCCAGGCCAAGAGGGATCCTTCACCCGTGTCTGGAGAAGTACAGCATCGGGGAGCCCACAGTGCCATCCACCCTGGCAGAGG
AGTTTACCTACAACCCCTTCATGAGAGTGAGGGAGAAGACGGTGCAGCAGCACGCAGGTGAGACGGACCCGGTGACCACCATGCGGGCCG
TGCGCAGGGAGAAGGACCAGTTCAAGATGCCCCGGGACTGAGGCCGCCCTGCACCTTCAGCGGATTTGGGGATTAGGCTCTTTTAGGTAA
CTGGCTTTCCTGCTGGTCCGTGCGGGAAATTCAGTCTTGATTTAACCTTAATTTTACAGCCCTTGGCTTGTGTTATCGGACATTCTAATG
CATATTTATAAGAGAAGTTTAACAAGTATTTATTCCCATAACTTCCCCTTGCAGACTGTTTTCTTCTGGCCTTTAGGCCTCTGCTTGTCC
CCTCGGGCCTCCTTCCTCCTCCGTGAGCCACTGCAGTCCCCCCACCCACGCTTCAGGTCAGGCGTGAGCCGGTGCCTTTGCTGTGGCCTT
GGCTGGGTGCTGATGGGACTGTCAGGCCCACTGCTGCGGTCGGTACCTTTGCAGCCTGTGCTTGTGGTCTGATCTGCTCAGGCCCCCGGC

>33832_33832_1_GNPTG-HAGH_GNPTG_chr16_1402307_ENST00000204679_HAGH_chr16_1859834_ENST00000455446_length(amino acids)=122AA_BP=1
MVLLPAHGPHGGHRVRLTCVLLHRLLPHSHEGVVGKLLCQGGWHCGLPDAVLLQTRVKDPSWPGGDWPEARTGCSPQTRWAPPPPSSSLH

--------------------------------------------------------------

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Fusion Gene PPI Analysis for GNPTG-HAGH


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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Related Drugs for GNPTG-HAGH


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for GNPTG-HAGH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource