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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:NEIL3-AGA (FusionGDB2 ID:HG55247TG175)

Fusion Gene Summary for NEIL3-AGA

check button Fusion gene summary
Fusion gene informationFusion gene name: NEIL3-AGA
Fusion gene ID: hg55247tg175
HgeneTgene
Gene symbol

NEIL3

AGA

Gene ID

55247

175

Gene namenei like DNA glycosylase 3aspartylglucosaminidase
SynonymsFGP2|FPG2|NEI3|ZGRF3|hFPG2|hNEI3AGU|ASRG|GA
Cytomap('NEIL3')('AGA')

4q34.3

4q34.3

Type of geneprotein-codingprotein-coding
Descriptionendonuclease 8-like 3DNA glycosylase FPG2DNA glycosylase hFPG2DNA glycosylase/AP lyase Neil3endonuclease VIII-like 3nei endonuclease VIII-like 3nei-like protein 3zinc finger, GRF-type containing 3N(4)-(beta-N-acetylglucosaminyl)-L-asparaginaseN4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidaseaspartylglucosylamine deaspartylaseglycosylasparaginase
Modification date2020031320200313
UniProtAcc

Q8TAT5

P20933

Ensembl transtripts involved in fusion geneENST00000264596, 
Fusion gene scores* DoF score1 X 1 X 1=16 X 6 X 2=72
# samples 16
** MAII scorelog2(1/1*10)=3.32192809488736log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NEIL3 [Title/Abstract] AND AGA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNEIL3(178272703)-AGA(178352962), # samples:3
Anticipated loss of major functional domain due to fusion event.NEIL3-AGA seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
NEIL3-AGA seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
NEIL3-AGA seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
NEIL3-AGA seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgeneNEIL3

GO:0006284

base-excision repair

23755964

TgeneAGA

GO:0006517

protein deglycosylation

1281977


check buttonFusion gene breakpoints across NEIL3 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across AGA (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4BLCATCGA-KQ-A41P-01ANEIL3chr4

178272703

-AGAchr4

178352962

-
ChimerDB4BLCATCGA-KQ-A41P-01ANEIL3chr4

178272703

+AGAchr4

178352962

-


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Fusion Gene ORF analysis for NEIL3-AGA

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-intronENST00000264596ENST00000506853NEIL3chr4

178272703

+AGAchr4

178352962

-
In-frameENST00000264596ENST00000264595NEIL3chr4

178272703

+AGAchr4

178352962

-

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 NEIL3-AGA


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.
genomic feature

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Fusion Protein Features for NEIL3-AGA


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/chr4:178272703/chr4:178352962)
- 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
NEIL3

Q8TAT5

AGA

P20933

FUNCTION: DNA glycosylase which prefers single-stranded DNA (ssDNA), or partially ssDNA structures such as bubble and fork structures, to double-stranded DNA (dsDNA) (PubMed:12433996, PubMed:19170771, PubMed:22569481, PubMed:23755964). Mediates interstrand cross-link repair in response to replication stress: acts by mediating DNA glycosylase activity, cleaving one of the two N-glycosyl bonds comprising the interstrand cross-link, which avoids the formation of a double-strand break but generates an abasic site that is bypassed by translesion synthesis polymerases (By similarity). In vitro, displays strong glycosylase activity towards the hydantoin lesions spiroiminodihydantoin (Sp) and guanidinohydantoin (Gh) in both ssDNA and dsDNA; also recognizes FapyA, FapyG, 5-OHU, 5-OHC, 5-OHMH, Tg and 8-oxoA lesions in ssDNA (PubMed:12433996, PubMed:19170771, PubMed:22569481, PubMed:23755964). No activity on 8-oxoG detected (PubMed:12433996, PubMed:19170771, PubMed:22569481, PubMed:23755964). Also shows weak DNA-(apurinic or apyrimidinic site) lyase activity (PubMed:12433996, PubMed:19170771, PubMed:22569481, PubMed:23755964). In vivo, appears to be the primary enzyme involved in removing Sp and Gh from ssDNA in neonatal tissues (PubMed:12433996, PubMed:19170771, PubMed:22569481, PubMed:23755964). {ECO:0000250|UniProtKB:A0A1L8HU22, ECO:0000269|PubMed:12433996, ECO:0000269|PubMed:19170771, ECO:0000269|PubMed:22569481, ECO:0000269|PubMed:23755964}.FUNCTION: Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins. {ECO:0000269|PubMed:1703489, ECO:0000269|PubMed:1904874, ECO:0000269|PubMed:2401370}.

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
HgeneNEIL3chr4:178272703chr4:178352962ENST00000264596+710247_281346606.0Zinc fingerFPG-type
HgeneNEIL3chr4:178272703chr4:178352962ENST00000264596+710317_346346606.0Zinc fingerRanBP2-type

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNEIL3chr4:178272703chr4:178352962ENST00000264596+710506_549346606.0Zinc fingerNote=GRF-type 1
HgeneNEIL3chr4:178272703chr4:178352962ENST00000264596+710552_595346606.0Zinc fingerNote=GRF-type 2
TgeneAGAchr4:178272703chr4:178352962ENST0000026459579234_237313347.0RegionSubstrate binding
TgeneAGAchr4:178272703chr4:178352962ENST0000026459579257_260313347.0RegionSubstrate binding


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Fusion Gene Sequence for NEIL3-AGA


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 NEIL3-AGA


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 NEIL3-AGA


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 NEIL3-AGA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNEIL3C2239176Liver carcinoma1CTD_human
TgeneC0268225Aspartylglucosaminuria7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0036341Schizophrenia1PSYGENET
TgeneC2931840Aspartylglucosamidase (AGA) deficiency1ORPHANET