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Center for Computational Systems Medicine level2
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:G2E3-NAP1L1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: G2E3-NAP1L1
FusionPDB ID: 31983
FusionGDB2.0 ID: 31983
HgeneTgene
Gene symbol

G2E3

NAP1L1

Gene ID

55632

4673

Gene nameG2/M-phase specific E3 ubiquitin protein ligasenucleosome assembly protein 1 like 1
SynonymsKIAA1333|PHF7BNAP1|NAP1L|NRP
Cytomap

14q12

12q21.2

Type of geneprotein-codingprotein-coding
DescriptionG2/M phase-specific E3 ubiquitin-protein ligaseG2/M phase-specific HECT-type E3 ubiquitin transferaseG2/M-phase specific E3 ubiquitin ligasePHD finger protein 7Bnucleosome assembly protein 1-like 1HSP22-like protein interacting proteinNAP-1-related protein
Modification date2020031320200322
UniProtAcc

Q7L622

P55209

Ensembl transtripts involved in fusion geneENST idsENST00000544007, ENST00000206595, 
ENST00000438909, ENST00000553504, 
ENST00000261182, ENST00000393263, 
ENST00000431879, ENST00000535020, 
ENST00000542344, ENST00000544816, 
ENST00000547773, ENST00000547993, 
ENST00000548044, ENST00000549596, 
ENST00000552342, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score7 X 4 X 5=14018 X 20 X 6=2160
# samples 722
** MAII scorelog2(7/140*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(22/2160*10)=-3.29545588352617
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: G2E3 [Title/Abstract] AND NAP1L1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)G2E3(31050322)-NAP1L1(76443565), # samples:3
Anticipated loss of major functional domain due to fusion event.G2E3-NAP1L1 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.
G2E3-NAP1L1 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.
G2E3-NAP1L1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
G2E3-NAP1L1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
G2E3-NAP1L1 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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

check buttonFusion gene breakpoints across G2E3 (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 NAP1L1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4LUADTCGA-69-7760-01AG2E3chr14

31028478

+NAP1L1chr12

76443565

-
ChimerDB4LUADTCGA-69-7760-01AG2E3chr14

31050322

+NAP1L1chr12

76443565

-
ChimerDB4LUADTCGA-69-7760G2E3chr14

31050322

+NAP1L1chr12

76443565

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000206595G2E3chr1431050322+ENST00000552342NAP1L1chr1276443565-5121914619549
ENST00000553504G2E3chr1431050322+ENST00000552342NAP1L1chr1276443565-1895157412940190

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
ENST00000206595ENST00000552342G2E3chr1431050322+NAP1L1chr1276443565-0.814252560.18574744
ENST00000553504ENST00000552342G2E3chr1431050322+NAP1L1chr1276443565-0.762216870.23778318

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>31983_31983_1_G2E3-NAP1L1_G2E3_chr14_31050322_ENST00000206595_NAP1L1_chr12_76443565_ENST00000552342_length(amino acids)=49AA_BP=

--------------------------------------------------------------

>31983_31983_2_G2E3-NAP1L1_G2E3_chr14_31050322_ENST00000553504_NAP1L1_chr12_76443565_ENST00000552342_length(amino acids)=90AA_BP=
MGAFAGPALSTVAHASQLSVLRIRRPCRSPASKPCLYASSVAFFKPVVYYFHQFGSNAEILTVVKSHCEGVATFKQISFNERWKVGAGLE

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr14:31050322/chr12:76443565)
- 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
G2E3

Q7L622

NAP1L1

P55209

FUNCTION: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Essential in early embryonic development to prevent apoptotic death. {ECO:0000269|PubMed:18511420}.FUNCTION: Histone chaperone that plays a role in the nuclear import of H2A-H2B and nucleosome assembly (PubMed:20002496, PubMed:26841755). Participates also in several important DNA repair mechanisms: greatly enhances ERCC6-mediated chromatin remodeling which is essential for transcription-coupled nucleotide excision DNA repair (PubMed:28369616). Stimulates also homologous recombination (HR) by RAD51 and RAD54 which is essential in mitotic DNA double strand break (DSB) repair (PubMed:24798879). Plays a key role in the regulation of embryonic neurogenesis (By similarity). Promotes the proliferation of neural progenitors and inhibits neuronal differentiation during cortical development (By similarity). Regulates neurogenesis via the modulation of RASSF10; regulates RASSF10 expression by promoting SETD1A-mediated H3K4 methylation at the RASSF10 promoter (By similarity). {ECO:0000250|UniProtKB:P28656, ECO:0000269|PubMed:20002496, ECO:0000269|PubMed:24798879, ECO:0000269|PubMed:26841755, ECO:0000269|PubMed:28369616}.; FUNCTION: (Microbial infection) Positively regulates Epstein-Barr virus reactivation in epithelial cells through the induction of viral BZLF1 expression. {ECO:0000269|PubMed:23691099}.; FUNCTION: (Microbial infection) Together with human herpesvirus 8 protein LANA1, assists the proper assembly of the nucleosome on the replicated viral DNA. {ECO:0000269|PubMed:27599637}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneG2E3chr14:31050322chr12:76443565ENST00000206595+215371_69812.333333333333334707.0DomainHECT
HgeneG2E3chr14:31050322chr12:76443565ENST00000206595+21511_5112.333333333333334707.0Zinc fingerC2HC pre-PHD-type
HgeneG2E3chr14:31050322chr12:76443565ENST00000206595+215143_19312.333333333333334707.0Zinc fingerNote=PHD-type 2%3B degenerate
HgeneG2E3chr14:31050322chr12:76443565ENST00000206595+215237_28612.333333333333334707.0Zinc fingerNote=PHD-type 3
HgeneG2E3chr14:31050322chr12:76443565ENST00000206595+21579_12812.333333333333334707.0Zinc fingerPHD-type 1
TgeneNAP1L1chr14:31050322chr12:76443565ENST00000261182111510_30353.0392.0Compositional biasNote=Asp/Glu-rich (acidic)
TgeneNAP1L1chr14:31050322chr12:76443565ENST000002611821115129_145353.0392.0Compositional biasNote=Asp/Glu-rich (acidic)
TgeneNAP1L1chr14:31050322chr12:76443565ENST000002611821115348_378353.0392.0Compositional biasNote=Asp/Glu-rich (acidic)
TgeneNAP1L1chr14:31050322chr12:76443565ENST00000393263111610_30353.0558.3333333333334Compositional biasNote=Asp/Glu-rich (acidic)
TgeneNAP1L1chr14:31050322chr12:76443565ENST000003932631116129_145353.0558.3333333333334Compositional biasNote=Asp/Glu-rich (acidic)
TgeneNAP1L1chr14:31050322chr12:76443565ENST000003932631116348_378353.0558.3333333333334Compositional biasNote=Asp/Glu-rich (acidic)
TgeneNAP1L1chr14:31050322chr12:76443565ENST000002611821115273_279353.0392.0MotifNuclear localization signal
TgeneNAP1L1chr14:31050322chr12:76443565ENST000003932631116273_279353.0558.3333333333334MotifNuclear localization signal


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>15_G2E3_31050322_NAP1L1_76443565_ranked_0.pdbG2E33105032231050322ENST00000552342NAP1L1chr1276443565-
MGAFAGPALSTVAHASQLSVLRIRRPCRSPASKPCLYASSVAFFKPVVYYFHQFGSNAEILTVVKSHCEGVATFKQISFNERWKVGAGLE
90


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
G2E3_pLDDT.png
all structure
all structure

all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
G2E3
NAP1L1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to G2E3-NAP1L1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to G2E3-NAP1L1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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