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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:ARID4A-NAA30 (FusionGDB2 ID:6463)

Fusion Gene Summary for ARID4A-NAA30

check button Fusion gene summary
Fusion gene informationFusion gene name: ARID4A-NAA30
Fusion gene ID: 6463
HgeneTgene
Gene symbol

ARID4A

NAA30

Gene ID

5926

122830

Gene nameAT-rich interaction domain 4AN-alpha-acetyltransferase 30, NatC catalytic subunit
SynonymsRBBP-1|RBBP1|RBP-1|RBP1C14orf35|MAK3|Mak3p|NAT12|NAT12P
Cytomap

14q23.1

14q22.3

Type of geneprotein-codingprotein-coding
DescriptionAT-rich interactive domain-containing protein 4AARID domain-containing protein 4AAT rich interactive domain 4A (RBP1-like)retinoblastoma-binding protein 1N-alpha-acetyltransferase 30N-acetyltransferase 12 (GCN5-related, putative)N-acetyltransferase MAK3 homolognatC catalytic subunitputative N-acetyltransferase
Modification date2020032020200313
UniProtAcc

P29374

Q147X3

Ensembl transtripts involved in fusion geneENST00000348476, ENST00000355431, 
ENST00000395168, ENST00000431317, 
ENST00000553355, 
ENST00000554703, 
ENST00000555166, ENST00000556492, 
Fusion gene scores* DoF score8 X 8 X 5=3204 X 3 X 4=48
# samples 94
** MAII scorelog2(9/320*10)=-1.83007499855769
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARID4A [Title/Abstract] AND NAA30 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARID4A(58766578)-NAA30(57863470), # samples:3
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
HgeneARID4A

GO:0045892

negative regulation of transcription, DNA-templated

12724404

TgeneNAA30

GO:0017196

N-terminal peptidyl-methionine acetylation

19398576


check buttonFusion gene breakpoints across ARID4A (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 NAA30 (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
ChimerDB4LIHCTCGA-BD-A3ER-01AARID4Achr14

58766578

-NAA30chr14

57863470

+
ChimerDB4LIHCTCGA-BD-A3ER-01AARID4Achr14

58766578

+NAA30chr14

57863470

+


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Fusion Gene ORF analysis for ARID4A-NAA30

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-5UTRENST00000348476ENST00000554703ARID4Achr14

58766578

+NAA30chr14

57863470

+
5CDS-5UTRENST00000348476ENST00000555166ARID4Achr14

58766578

+NAA30chr14

57863470

+
5CDS-5UTRENST00000348476ENST00000556492ARID4Achr14

58766578

+NAA30chr14

57863470

+
5CDS-5UTRENST00000355431ENST00000554703ARID4Achr14

58766578

+NAA30chr14

57863470

+
5CDS-5UTRENST00000355431ENST00000555166ARID4Achr14

58766578

+NAA30chr14

57863470

+
5CDS-5UTRENST00000355431ENST00000556492ARID4Achr14

58766578

+NAA30chr14

57863470

+
5CDS-5UTRENST00000395168ENST00000554703ARID4Achr14

58766578

+NAA30chr14

57863470

+
5CDS-5UTRENST00000395168ENST00000555166ARID4Achr14

58766578

+NAA30chr14

57863470

+
5CDS-5UTRENST00000395168ENST00000556492ARID4Achr14

58766578

+NAA30chr14

57863470

+
5CDS-5UTRENST00000431317ENST00000554703ARID4Achr14

58766578

+NAA30chr14

57863470

+
5CDS-5UTRENST00000431317ENST00000555166ARID4Achr14

58766578

+NAA30chr14

57863470

+
5CDS-5UTRENST00000431317ENST00000556492ARID4Achr14

58766578

+NAA30chr14

57863470

+
intron-5UTRENST00000553355ENST00000554703ARID4Achr14

58766578

+NAA30chr14

57863470

+
intron-5UTRENST00000553355ENST00000555166ARID4Achr14

58766578

+NAA30chr14

57863470

+
intron-5UTRENST00000553355ENST00000556492ARID4Achr14

58766578

+NAA30chr14

57863470

+

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 ARID4A-NAA30


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)
ARID4Achr1458766578+NAA30chr1457863469+1.07E-050.9999893
ARID4Achr1458766578+NAA30chr1457863469+1.07E-050.9999893

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.
genomic feature of top 1%

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Fusion Protein Features for ARID4A-NAA30


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/:58766578/:57863470)
- 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
ARID4A

P29374

NAA30

Q147X3

FUNCTION: DNA-binding protein which modulates activity of several transcription factors including RB1 (retinoblastoma-associated protein) and AR (androgen receptor) (By similarity). May function as part of an mSin3A repressor complex (PubMed:14581478). Has no intrinsic transcriptional activity (By similarity). Plays a role in the regulation of epigenetic modifications at the PWS/AS imprinting center near the SNRPN promoter, where it might function as part of a complex with RB1 and ARID4B (By similarity). Involved in spermatogenesis, together with ARID4B, where it acts as a transcriptional coactivator for AR and enhances expression of genes required for sperm maturation. Regulates expression of the tight junction protein CLDN3 in the testis, which is important for integrity of the blood-testis barrier (By similarity). Plays a role in myeloid homeostasis where it regulates the histone methylation state of bone marrow cells and expression of various genes involved in hematopoiesis. May function as a leukemia suppressor (By similarity). {ECO:0000250|UniProtKB:F8VPQ2, ECO:0000269|PubMed:14581478}.FUNCTION: Catalytic subunit of the N-terminal acetyltransferase C (NatC) complex. Catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Leu-Ala and Met-Leu-Gly. Necessary for the lysosomal localization and function of ARL8B sugeesting that ARL8B is a NatC substrate. {ECO:0000269|PubMed:19398576}.

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 ARID4A-NAA30


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 ARID4A-NAA30


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 ARID4A-NAA30


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 ARID4A-NAA30


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