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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: 27132

FusionGeneSummary for PIGK_CSGALNACT1

check button Fusion gene summary
Fusion gene informationFusion gene name: PIGK_CSGALNACT1
Fusion gene ID: 27132
HgeneTgene
Gene symbol

PIGK

CSGALNACT1

Gene ID

10026

55790

Gene namephosphatidylinositol glycan anchor biosynthesis class Kchondroitin sulfate N-acetylgalactosaminyltransferase 1
SynonymsGPI8CSGalNAcT-1|ChGn|ChGn-1|beta4GalNAcT
Cytomap

1p31.1

8p21.3

Type of geneprotein-codingprotein-coding
DescriptionGPI-anchor transamidaseGPI transamidase subunitGPI8 homologPIG-Kphosphatidylinositol glycan, class Kphosphatidylinositol-glycan biosynthesis class K proteinchondroitin sulfate N-acetylgalactosaminyltransferase 1beta4GalNAcT-1chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1chondroitin beta1,4 N-acetylgalactosaminyltransferaseglucuronylgalactosylproteoglycan 4-beta-N- acetylgalactosaminyltransferas
Modification date2018052320180519
UniProtAcc

Q92643

Q8TDX6

Ensembl transtripts involved in fusion geneENST00000370812, ENST00000445065, 
ENST00000370813, ENST00000359130, 
ENST00000478391, 
ENST00000454498, 
ENST00000332246, ENST00000311540, 
ENST00000522854, ENST00000544602, 
ENST00000518542, 
Fusion gene scores* DoF score5 X 5 X 5=1255 X 4 X 4=80
# samples 55
** MAII scorelog2(5/125*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PIGK [Title/Abstract] AND CSGALNACT1 [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
TgeneCSGALNACT1

GO:0019276

UDP-N-acetylgalactosamine metabolic process

11514575

TgeneCSGALNACT1

GO:0030206

chondroitin sulfate biosynthetic process

11514575|12163485

TgeneCSGALNACT1

GO:0046398

UDP-glucuronate metabolic process

11514575

TgeneCSGALNACT1

GO:0050653

chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

12163485


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
TCGARVPCPGTCGA-SR-A6MP-01APIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
* 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-5UTRENST00000370812ENST00000454498PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
5CDS-5UTRENST00000370812ENST00000332246PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
5CDS-5UTRENST00000370812ENST00000311540PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
5CDS-5UTRENST00000370812ENST00000522854PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
5CDS-5UTRENST00000370812ENST00000544602PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
5CDS-intronENST00000370812ENST00000518542PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
intron-5UTRENST00000445065ENST00000454498PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
intron-5UTRENST00000445065ENST00000332246PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
intron-5UTRENST00000445065ENST00000311540PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
intron-5UTRENST00000445065ENST00000522854PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
intron-5UTRENST00000445065ENST00000544602PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
intron-intronENST00000445065ENST00000518542PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
intron-5UTRENST00000370813ENST00000454498PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
intron-5UTRENST00000370813ENST00000332246PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
intron-5UTRENST00000370813ENST00000311540PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
intron-5UTRENST00000370813ENST00000522854PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
intron-5UTRENST00000370813ENST00000544602PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
intron-intronENST00000370813ENST00000518542PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
5CDS-5UTRENST00000359130ENST00000454498PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
5CDS-5UTRENST00000359130ENST00000332246PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
5CDS-5UTRENST00000359130ENST00000311540PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
5CDS-5UTRENST00000359130ENST00000522854PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
5CDS-5UTRENST00000359130ENST00000544602PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
5CDS-intronENST00000359130ENST00000518542PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
intron-5UTRENST00000478391ENST00000454498PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
intron-5UTRENST00000478391ENST00000332246PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
intron-5UTRENST00000478391ENST00000311540PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
intron-5UTRENST00000478391ENST00000522854PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
intron-5UTRENST00000478391ENST00000544602PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-
intron-intronENST00000478391ENST00000518542PIGKchr1

77672325

-CSGALNACT1chr8

19363641

-

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FusionProtFeatures for PIGK_CSGALNACT1


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

Q92643

CSGALNACT1

Q8TDX6

Mediates GPI anchoring in the endoplasmic reticulum, byreplacing a protein's C-terminal GPI attachment signal peptidewith a pre-assembled GPI. During this transamidation reaction, theGPI transamidase forms a carbonyl intermediate with the substrateprotein. Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of glucuronic acid (GlcUA).Required for addition of the first GalNAc to the coretetrasaccharide linker and for elongation of chondroitin chains.Important role in chondroitin chain biosynthesis in cartilageformation and subsequent endochondral ossification(PubMed:11788602, PubMed:12163485, PubMed:12446672,PubMed:17145758). Moreover, is involved in the metabolism ofaggrecan (By similarity). {ECO:0000250|UniProtKB:Q8BJQ9,ECO:0000269|PubMed:11788602, ECO:0000269|PubMed:12163485,ECO:0000269|PubMed:12446672, ECO:0000269|PubMed:17145758,ECO:0000269|PubMed:21160489, ECO:0000269|PubMed:27599773}.

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 PIGK_CSGALNACT1


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 PIGK_CSGALNACT1


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
PIGKPIGT, CANX, ULBP2, ALPP, GPAA1, PIGS, PIGU, FBXO6, B3GNT3, LYPD3, PRSS50, TCTN3CSGALNACT1ACIN1, STX6, CSGALNACT2, SLC30A1, GPRC5B, ARFGEF1, ARFGEF2, TMEM214, KIAA1467, ATP2B3, TMUB1, TMX4, TIMELESS


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 PIGK_CSGALNACT1


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 PIGK_CSGALNACT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCSGALNACT1C0023893Liver Cirrhosis, Experimental1CTD_human