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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: 27171

FusionGeneSummary for PIGW_POMGNT1

check button Fusion gene summary
Fusion gene informationFusion gene name: PIGW_POMGNT1
Fusion gene ID: 27171
HgeneTgene
Gene symbol

PIGW

POMGNT1

Gene ID

284098

55624

Gene namephosphatidylinositol glycan anchor biosynthesis class Wprotein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
SynonymsGwt1|HPMRS5GNTI.2|GnT I.2|LGMD2O|MEB|MGAT1.2|RP76|gnT-I.2
Cytomap

17q12

1p34.1

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylinositol-glycan biosynthesis class W proteinprotein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2
Modification date2018052320180523
UniProtAcc

Q7Z7B1

Q8WZA1

Ensembl transtripts involved in fusion geneENST00000592983, ENST00000328396, 
ENST00000396420, ENST00000371984, 
ENST00000371992, ENST00000535522, 
ENST00000371986, ENST00000485714, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 3 X 2=18
# samples 24
** MAII scorelog2(2/1*10)=4.32192809488736log2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PIGW [Title/Abstract] AND POMGNT1 [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
TgenePOMGNT1

GO:0006493

protein O-linked glycosylation

11709191

TgenePOMGNT1

GO:0016266

O-glycan processing

27493216


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
ChiTaRS3.1AI376808PIGWchr17

34894873

-POMGNT1chr1

46656022

+
ChiTaRS3.1AW272407PIGWchr17

34894873

-POMGNT1chr1

46656022

+
* 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-intronENST00000592983ENST00000396420PIGWchr17

34894873

-POMGNT1chr1

46656022

+
intron-intronENST00000592983ENST00000371984PIGWchr17

34894873

-POMGNT1chr1

46656022

+
intron-intronENST00000592983ENST00000371992PIGWchr17

34894873

-POMGNT1chr1

46656022

+
intron-intronENST00000592983ENST00000535522PIGWchr17

34894873

-POMGNT1chr1

46656022

+
intron-intronENST00000592983ENST00000371986PIGWchr17

34894873

-POMGNT1chr1

46656022

+
intron-5UTRENST00000592983ENST00000485714PIGWchr17

34894873

-POMGNT1chr1

46656022

+
3UTR-intronENST00000328396ENST00000396420PIGWchr17

34894873

-POMGNT1chr1

46656022

+
3UTR-intronENST00000328396ENST00000371984PIGWchr17

34894873

-POMGNT1chr1

46656022

+
3UTR-intronENST00000328396ENST00000371992PIGWchr17

34894873

-POMGNT1chr1

46656022

+
3UTR-intronENST00000328396ENST00000535522PIGWchr17

34894873

-POMGNT1chr1

46656022

+
3UTR-intronENST00000328396ENST00000371986PIGWchr17

34894873

-POMGNT1chr1

46656022

+
3UTR-5UTRENST00000328396ENST00000485714PIGWchr17

34894873

-POMGNT1chr1

46656022

+

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FusionProtFeatures for PIGW_POMGNT1


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

Q7Z7B1

POMGNT1

Q8WZA1

Required for the transport of GPI-anchored proteins tothe plasma membrane (PubMed:24367057). Probable acetyltransferase,which acetylates the inositol ring of phosphatidylinositol duringbiosynthesis of GPI-anchor. Acetylation during GPI-anchorbiosynthesis is not essential for the subsequent mannosylation andis usually removed soon after the attachment of GPIs to proteins(By similarity). {ECO:0000250|UniProtKB:Q7TSN4,ECO:0000269|PubMed:24367057}. Participates in O-mannosyl glycosylation by catalyzingthe addition of N-acetylglucosamine to O-linked mannose onglycoproteins (PubMed:11709191, PubMed:27493216). Catalyzes thesynthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety onalpha-dystroglycan and other O-mannosylated proteins, providingthe necessary basis for the addition of further carbohydratemoieties (PubMed:11709191, PubMed:27493216). Is specific for alphalinked terminal mannose and does not have MGAT3, MGAT4, MGAT5,MGAT7 or MGAT8 activity. {ECO:0000269|PubMed:11709191,ECO:0000269|PubMed:11742540, ECO:0000269|PubMed:26908613,ECO:0000269|PubMed:27391550, ECO:0000269|PubMed:27493216}.

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 PIGW_POMGNT1


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 PIGW_POMGNT1


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 PIGW_POMGNT1


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 PIGW_POMGNT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePIGWC4014958HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 51UNIPROT
TgenePOMGNT1C3151519MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 38UNIPROT
TgenePOMGNT1C3150412MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 35CTD_human;UNIPROT
TgenePOMGNT1C3150417MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 31CTD_human;ORPHANET;UNIPROT