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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:SPIDR-POMGNT2 (FusionGDB2 ID:HG23514TG84892)

Fusion Gene Summary for SPIDR-POMGNT2

check button Fusion gene summary
Fusion gene informationFusion gene name: SPIDR-POMGNT2
Fusion gene ID: hg23514tg84892
HgeneTgene
Gene symbol

SPIDR

POMGNT2

Gene ID

23514

84892

Gene namescaffold protein involved in DNA repairprotein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
SynonymsKIAA0146AGO61|C3orf39|GTDC2|MDDGA8|MDDGC8
Cytomap('KIAA0146','SPIDR')('C3orf39','POMGNT2')

8q11.21

3p22.1

Type of geneprotein-codingprotein-coding
DescriptionDNA repair-scaffolding proteinscaffolding protein involved in DNA repairprotein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2glycosyltransferase-like domain containing 2glycosyltransferase-like domain-containing protein 2protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2
Modification date2020032020200328
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000521214, ENST00000297423, 
ENST00000518074, ENST00000541342, 
ENST00000517693, ENST00000518060, 
Fusion gene scores* DoF score24 X 12 X 15=43204 X 1 X 3=12
# samples 273
** MAII scorelog2(27/4320*10)=-4
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SPIDR [Title/Abstract] AND POMGNT2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKIAA0146(48203726)-C3orf39(43123028), # samples:2
SPIDR(48203726)-POMGNT2(43123028), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneSPIDR

GO:0006974

cellular response to DNA damage stimulus

23509288

HgeneSPIDR

GO:0010569

regulation of double-strand break repair via homologous recombination

23754376

HgeneSPIDR

GO:0031334

positive regulation of protein complex assembly

23509288

HgeneSPIDR

GO:0070202

regulation of establishment of protein localization to chromosome

23509288

HgeneSPIDR

GO:0071479

cellular response to ionizing radiation

23509288|23754376

HgeneSPIDR

GO:0072711

cellular response to hydroxyurea

23509288

HgeneSPIDR

GO:0072757

cellular response to camptothecin

23509288

TgenePOMGNT2

GO:0006493

protein O-linked glycosylation

23929950



check button Fusion gene information
* 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
ChimerDB4ESCATCGA-Q9-A6FUKIAA0146chr8

48203726

+C3orf39chr3

43123028

-
ChimerDB4ESCATCGA-Q9-A6FU-01ASPIDRchr8

48203726

+POMGNT2chr3

43123028

-
ChimerDB4ESCATCGA-Q9-A6FUSPIDRchr8

48203726

+POMGNT2chr3

43123028

-


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Fusion Gene ORF analysis for SPIDR-POMGNT2

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
3UTR-5UTRENST00000521214ENST00000344697SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
3UTR-5UTRENST00000521214ENST00000441964SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
5CDS-5UTRENST00000297423ENST00000344697SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
5CDS-5UTRENST00000297423ENST00000441964SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
5CDS-5UTRENST00000518074ENST00000344697SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
5CDS-5UTRENST00000518074ENST00000441964SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
5CDS-5UTRENST00000541342ENST00000344697SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
5CDS-5UTRENST00000541342ENST00000441964SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
intron-5UTRENST00000517693ENST00000344697SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
intron-5UTRENST00000517693ENST00000441964SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
intron-5UTRENST00000518060ENST00000344697SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
intron-5UTRENST00000518060ENST00000441964SPIDRchr8

48203726

+POMGNT2chr3

43123028

-

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 SPIDR-POMGNT2


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)


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Fusion Protein Features for SPIDR-POMGNT2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:48203726/:43123028)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 SPIDR-POMGNT2


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 SPIDR-POMGNT2


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 SPIDR-POMGNT2


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 SPIDR-POMGNT2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSPIDRC0685837Pure Gonadal Dysgenesis, 46, XX1ORPHANET
HgeneSPIDRC0949595Gonadal Dysgenesis, 46,XX1ORPHANET
TgeneC0265221Walker-Warburg congenital muscular dystrophy2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC3553813MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 82GENOMICS_ENGLAND;UNIPROT
TgeneC0686353Muscular Dystrophies, Limb-Girdle1GENOMICS_ENGLAND
TgeneC4748320MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 81UNIPROT