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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: 14322

FusionGeneSummary for GALNT2_EYS

check button Fusion gene summary
Fusion gene informationFusion gene name: GALNT2_EYS
Fusion gene ID: 14322
HgeneTgene
Gene symbol

GALNT2

EYS

Gene ID

2590

346007

Gene namepolypeptide N-acetylgalactosaminyltransferase 2eyes shut homolog (Drosophila)
SynonymsGalNAc-T2C6orf178|C6orf179|C6orf180|EGFL10|EGFL11|RP25|SPAM|bA166P24.2|bA307F22.3|bA74E24.1|dJ1018A4.2|dJ22I17.2|dJ303F19.1
Cytomap

1q42.13

6q12

Type of geneprotein-codingprotein-coding
Descriptionpolypeptide N-acetylgalactosaminyltransferase 2UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)polypeptide GalNAc transferase 2pp-GaNTase 2protein eyes shut homologEGF-like-domain, multiple 10EGF-like-domain, multiple 11epidermal growth factor-like protein 10epidermal growth factor-like protein 11protein spacemaker homolog
Modification date2018052320180519
UniProtAcc

Q10471

Q5T1H1

Ensembl transtripts involved in fusion geneENST00000543760, ENST00000366672, 
ENST00000541865, ENST00000485438, 
ENST00000503581, ENST00000370621, 
ENST00000370616, ENST00000393380, 
ENST00000342421, ENST00000370618, 
ENST00000486069, 
Fusion gene scores* DoF score10 X 8 X 5=40026 X 15 X 12=4680
# samples 1027
** MAII scorelog2(10/400*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(27/4680*10)=-4.11547721741994
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GALNT2 [Title/Abstract] AND EYS [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
HgeneGALNT2

GO:0002378

immunoglobulin biosynthetic process

12438318

HgeneGALNT2

GO:0006493

protein O-linked glycosylation

16434399|19460755

HgeneGALNT2

GO:0016266

O-glycan processing

18562306

HgeneGALNT2

GO:0018242

protein O-linked glycosylation via serine

9295285|12438318

HgeneGALNT2

GO:0018243

protein O-linked glycosylation via threonine

9295285|12438318|18562306


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
TCGALDLUSCTCGA-51-6867-01AGALNT2chr1

230203153

+EYSchr6

64436573

-
* 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-3CDSENST00000543760ENST00000503581GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-3CDSENST00000543760ENST00000370621GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-3CDSENST00000543760ENST00000370616GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-intronENST00000543760ENST00000393380GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-intronENST00000543760ENST00000342421GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-intronENST00000543760ENST00000370618GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-intronENST00000543760ENST00000486069GALNT2chr1

230203153

+EYSchr6

64436573

-
Frame-shiftENST00000366672ENST00000503581GALNT2chr1

230203153

+EYSchr6

64436573

-
Frame-shiftENST00000366672ENST00000370621GALNT2chr1

230203153

+EYSchr6

64436573

-
Frame-shiftENST00000366672ENST00000370616GALNT2chr1

230203153

+EYSchr6

64436573

-
5CDS-intronENST00000366672ENST00000393380GALNT2chr1

230203153

+EYSchr6

64436573

-
5CDS-intronENST00000366672ENST00000342421GALNT2chr1

230203153

+EYSchr6

64436573

-
5CDS-intronENST00000366672ENST00000370618GALNT2chr1

230203153

+EYSchr6

64436573

-
5CDS-intronENST00000366672ENST00000486069GALNT2chr1

230203153

+EYSchr6

64436573

-
5UTR-3CDSENST00000541865ENST00000503581GALNT2chr1

230203153

+EYSchr6

64436573

-
5UTR-3CDSENST00000541865ENST00000370621GALNT2chr1

230203153

+EYSchr6

64436573

-
5UTR-3CDSENST00000541865ENST00000370616GALNT2chr1

230203153

+EYSchr6

64436573

-
5UTR-intronENST00000541865ENST00000393380GALNT2chr1

230203153

+EYSchr6

64436573

-
5UTR-intronENST00000541865ENST00000342421GALNT2chr1

230203153

+EYSchr6

64436573

-
5UTR-intronENST00000541865ENST00000370618GALNT2chr1

230203153

+EYSchr6

64436573

-
5UTR-intronENST00000541865ENST00000486069GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-3CDSENST00000485438ENST00000503581GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-3CDSENST00000485438ENST00000370621GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-3CDSENST00000485438ENST00000370616GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-intronENST00000485438ENST00000393380GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-intronENST00000485438ENST00000342421GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-intronENST00000485438ENST00000370618GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-intronENST00000485438ENST00000486069GALNT2chr1

230203153

+EYSchr6

64436573

-

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FusionProtFeatures for GALNT2_EYS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GALNT2

Q10471

EYS

Q5T1H1

Catalyzes the initial reaction in O-linkedoligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on theprotein receptor. Has a broad spectrum of substrates for peptidessuch as EA2, Muc5AC, Muc1a, Muc1b. Probably involved in O-linkedglycosylation of the immunoglobulin A1 (IgA1) hinge region.{ECO:0000269|PubMed:12438318, ECO:0000269|PubMed:16434399,ECO:0000269|PubMed:7592619, ECO:0000269|PubMed:9295285}.

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 GALNT2_EYS


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 GALNT2_EYS


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
GALNT2NOD2, RPS15A, FAM3C, MRPS5, SLC25A4, ZMPSTE24, PRPF40A, CCDC155, CCDC8, PEX19, TGOLN2, PTPN1, REEP5, AP4M1, AP4S1, MMGT1, PIANP, TRIM25, LMNAEYSEGFR


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 GALNT2_EYS


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 GALNT2_EYS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEYSC1864446Retinitis Pigmentosa 252CTD_human;UNIPROT
TgeneEYSC0035334Retinitis Pigmentosa1CTD_human;ORPHANET