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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: 14320

FusionGeneSummary for GALNT2_AUTS2

check button Fusion gene summary
Fusion gene informationFusion gene name: GALNT2_AUTS2
Fusion gene ID: 14320
HgeneTgene
Gene symbol

GALNT2

AUTS2

Gene ID

2590

26053

Gene namepolypeptide N-acetylgalactosaminyltransferase 2AUTS2, activator of transcription and developmental regulator
SynonymsGalNAc-T2FBRSL2|MRD26
Cytomap

1q42.13

7q11.22

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 2autism susceptibility gene 2 proteinautism susceptibility candidate 2autism-related protein 1
Modification date2018052320180519
UniProtAcc

Q10471

Q8WXX7

Ensembl transtripts involved in fusion geneENST00000543760, ENST00000366672, 
ENST00000541865, ENST00000485438, 
ENST00000406775, ENST00000342771, 
ENST00000403018, ENST00000489774, 
Fusion gene scores* DoF score10 X 8 X 5=40018 X 16 X 6=1728
# samples 1020
** MAII scorelog2(10/400*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(20/1728*10)=-3.11103131238874
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GALNT2 [Title/Abstract] AND AUTS2 [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

TgeneAUTS2

GO:0045944

positive regulation of transcription by RNA polymerase II

25519132

TgeneAUTS2

GO:0051571

positive regulation of histone H3-K4 methylation

25519132

TgeneAUTS2

GO:2000620

positive regulation of histone H4-K16 acetylation

25519132


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
ChiTaRS3.1AW015340GALNT2chr1

230301660

-AUTS2chr7

69723030

-
* 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-intronENST00000543760ENST00000406775GALNT2chr1

230301660

-AUTS2chr7

69723030

-
intron-intronENST00000543760ENST00000342771GALNT2chr1

230301660

-AUTS2chr7

69723030

-
intron-intronENST00000543760ENST00000403018GALNT2chr1

230301660

-AUTS2chr7

69723030

-
intron-intronENST00000543760ENST00000489774GALNT2chr1

230301660

-AUTS2chr7

69723030

-
intron-intronENST00000366672ENST00000406775GALNT2chr1

230301660

-AUTS2chr7

69723030

-
intron-intronENST00000366672ENST00000342771GALNT2chr1

230301660

-AUTS2chr7

69723030

-
intron-intronENST00000366672ENST00000403018GALNT2chr1

230301660

-AUTS2chr7

69723030

-
intron-intronENST00000366672ENST00000489774GALNT2chr1

230301660

-AUTS2chr7

69723030

-
intron-intronENST00000541865ENST00000406775GALNT2chr1

230301660

-AUTS2chr7

69723030

-
intron-intronENST00000541865ENST00000342771GALNT2chr1

230301660

-AUTS2chr7

69723030

-
intron-intronENST00000541865ENST00000403018GALNT2chr1

230301660

-AUTS2chr7

69723030

-
intron-intronENST00000541865ENST00000489774GALNT2chr1

230301660

-AUTS2chr7

69723030

-
intron-intronENST00000485438ENST00000406775GALNT2chr1

230301660

-AUTS2chr7

69723030

-
intron-intronENST00000485438ENST00000342771GALNT2chr1

230301660

-AUTS2chr7

69723030

-
intron-intronENST00000485438ENST00000403018GALNT2chr1

230301660

-AUTS2chr7

69723030

-
intron-intronENST00000485438ENST00000489774GALNT2chr1

230301660

-AUTS2chr7

69723030

-

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FusionProtFeatures for GALNT2_AUTS2


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

Q10471

AUTS2

Q8WXX7

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}. Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain thetranscriptionally repressive state of many genes, including Hoxgenes, throughout development. PcG PRC1 complex acts via chromatinremodeling and modification of histones; it mediatesmonoubiquitination of histone H2A 'Lys-119', rendering chromatinheritably changed in its expressibility (PubMed:25519132). ThePRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP andAUTS2 has decreased histone H2A ubiquitination activity, due tothe phosphorylation of RNF2 by CSNK2B (PubMed:25519132). As aconsequence, the complex mediates transcriptional activation(PubMed:25519132). In the cytoplasm, plays a role in axon anddendrite elongation and in neuronal migration during embryonicbrain development. Promotes reorganization of the actincytoskeleton, lamellipodia formation and neurite elongation viaits interaction with RAC guanine nucleotide exchange factors,which then leads to the activation of RAC1 (By similarity).{ECO:0000250|UniProtKB:A0A087WPF7, ECO:0000269|PubMed:25519132}.

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_AUTS2


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_AUTS2


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 GALNT2_AUTS2


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_AUTS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneAUTS2C0036341Schizophrenia2PSYGENET
TgeneAUTS2C0014544Epilepsy1CTD_human