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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:GALNT2-RGS7 (FusionGDB2 ID:32178)

Fusion Gene Summary for GALNT2-RGS7

check button Fusion gene summary
Fusion gene informationFusion gene name: GALNT2-RGS7
Fusion gene ID: 32178
HgeneTgene
Gene symbol

GALNT2

RGS7

Gene ID

2590

6000

Gene namepolypeptide N-acetylgalactosaminyltransferase 2regulator of G protein signaling 7
SynonymsGalNAc-T2-
Cytomap

1q42.13

1q43|1q23.1

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 2regulator of G-protein signaling 7regulator of G-protein signaling RGS7regulator of G-protein signalling 7
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000543760, ENST00000366672, 
ENST00000541865, ENST00000485438, 
ENST00000331110, ENST00000348120, 
ENST00000366563, ENST00000366564, 
ENST00000366565, ENST00000446183, 
ENST00000366562, ENST00000401882, 
ENST00000407727, 
Fusion gene scores* DoF score18 X 14 X 9=226813 X 11 X 8=1144
# samples 2114
** MAII scorelog2(21/2268*10)=-3.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/1144*10)=-3.03058831983342
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GALNT2 [Title/Abstract] AND RGS7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGALNT2(230203153)-RGS7(241146429), # samples:3
Anticipated loss of major functional domain due to fusion event.GALNT2-RGS7 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
GALNT2-RGS7 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
GALNT2-RGS7 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
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

TgeneRGS7

GO:0043547

positive regulation of GTPase activity

10521509


check buttonFusion gene breakpoints across GALNT2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across RGS7 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4SKCMTCGA-D3-A51E-06AGALNT2chr1

230203153

+RGS7chr1

241146429

-
ChimerDB4SKCMTCGA-D3-A51E-06AGALNT2chr1

230203153

+RGS7chr1

241146429

-
ChimerDB4SKCMTCGA-D3-A51E-06AGALNT2chr1

230203153

-RGS7chr1

241146429

-


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Fusion Gene ORF analysis for GALNT2-RGS7

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-3CDSENST00000543760ENST00000331110GALNT2chr1

230203153

+RGS7chr1

241146429

-
intron-3CDSENST00000543760ENST00000348120GALNT2chr1

230203153

+RGS7chr1

241146429

-
intron-3CDSENST00000543760ENST00000366563GALNT2chr1

230203153

+RGS7chr1

241146429

-
intron-3CDSENST00000543760ENST00000366564GALNT2chr1

230203153

+RGS7chr1

241146429

-
intron-3CDSENST00000543760ENST00000366565GALNT2chr1

230203153

+RGS7chr1

241146429

-
intron-5UTRENST00000543760ENST00000446183GALNT2chr1

230203153

+RGS7chr1

241146429

-
intron-5UTRENST00000543760ENST00000366562GALNT2chr1

230203153

+RGS7chr1

241146429

-
intron-5UTRENST00000543760ENST00000401882GALNT2chr1

230203153

+RGS7chr1

241146429

-
intron-5UTRENST00000543760ENST00000407727GALNT2chr1

230203153

+RGS7chr1

241146429

-
Frame-shiftENST00000366672ENST00000331110GALNT2chr1

230203153

+RGS7chr1

241146429

-
Frame-shiftENST00000366672ENST00000348120GALNT2chr1

230203153

+RGS7chr1

241146429

-
Frame-shiftENST00000366672ENST00000366563GALNT2chr1

230203153

+RGS7chr1

241146429

-
Frame-shiftENST00000366672ENST00000366564GALNT2chr1

230203153

+RGS7chr1

241146429

-
Frame-shiftENST00000366672ENST00000366565GALNT2chr1

230203153

+RGS7chr1

241146429

-
5CDS-5UTRENST00000366672ENST00000446183GALNT2chr1

230203153

+RGS7chr1

241146429

-
5CDS-5UTRENST00000366672ENST00000366562GALNT2chr1

230203153

+RGS7chr1

241146429

-
5CDS-5UTRENST00000366672ENST00000401882GALNT2chr1

230203153

+RGS7chr1

241146429

-
5CDS-5UTRENST00000366672ENST00000407727GALNT2chr1

230203153

+RGS7chr1

241146429

-
5UTR-3CDSENST00000541865ENST00000331110GALNT2chr1

230203153

+RGS7chr1

241146429

-
5UTR-3CDSENST00000541865ENST00000348120GALNT2chr1

230203153

+RGS7chr1

241146429

-
5UTR-3CDSENST00000541865ENST00000366563GALNT2chr1

230203153

+RGS7chr1

241146429

-
5UTR-3CDSENST00000541865ENST00000366564GALNT2chr1

230203153

+RGS7chr1

241146429

-
5UTR-3CDSENST00000541865ENST00000366565GALNT2chr1

230203153

+RGS7chr1

241146429

-
5UTR-5UTRENST00000541865ENST00000446183GALNT2chr1

230203153

+RGS7chr1

241146429

-
5UTR-5UTRENST00000541865ENST00000366562GALNT2chr1

230203153

+RGS7chr1

241146429

-
5UTR-5UTRENST00000541865ENST00000401882GALNT2chr1

230203153

+RGS7chr1

241146429

-
5UTR-5UTRENST00000541865ENST00000407727GALNT2chr1

230203153

+RGS7chr1

241146429

-
intron-3CDSENST00000485438ENST00000331110GALNT2chr1

230203153

+RGS7chr1

241146429

-
intron-3CDSENST00000485438ENST00000348120GALNT2chr1

230203153

+RGS7chr1

241146429

-
intron-3CDSENST00000485438ENST00000366563GALNT2chr1

230203153

+RGS7chr1

241146429

-
intron-3CDSENST00000485438ENST00000366564GALNT2chr1

230203153

+RGS7chr1

241146429

-
intron-3CDSENST00000485438ENST00000366565GALNT2chr1

230203153

+RGS7chr1

241146429

-
intron-5UTRENST00000485438ENST00000446183GALNT2chr1

230203153

+RGS7chr1

241146429

-
intron-5UTRENST00000485438ENST00000366562GALNT2chr1

230203153

+RGS7chr1

241146429

-
intron-5UTRENST00000485438ENST00000401882GALNT2chr1

230203153

+RGS7chr1

241146429

-
intron-5UTRENST00000485438ENST00000407727GALNT2chr1

230203153

+RGS7chr1

241146429

-

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)

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

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Fusion Genomic Features for GALNT2-RGS7


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.

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 GALNT2-RGS7


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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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Fusion Gene Sequence for GALNT2-RGS7


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.

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Fusion Gene PPI Analysis for GALNT2-RGS7


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 GALNT2-RGS7


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 GALNT2-RGS7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRGS7C0020796Profound Mental Retardation1CTD_human
TgeneRGS7C0025363Mental Retardation, Psychosocial1CTD_human
TgeneRGS7C0038454Cerebrovascular accident1CTD_human
TgeneRGS7C0751956Acute Cerebrovascular Accidents1CTD_human
TgeneRGS7C0917816Mental deficiency1CTD_human
TgeneRGS7C3714756Intellectual Disability1CTD_human