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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:RPL23A-NAA15 (FusionGDB2 ID:75738)

Fusion Gene Summary for RPL23A-NAA15

check button Fusion gene summary
Fusion gene informationFusion gene name: RPL23A-NAA15
Fusion gene ID: 75738
HgeneTgene
Gene symbol

RPL23A

NAA15

Gene ID

6147

80155

Gene nameribosomal protein L23aN-alpha-acetyltransferase 15, NatA auxiliary subunit
SynonymsL23A|MDA20Ga19|MRD50|NARG1|NAT1P|NATH|TBDN|TBDN100
Cytomap

17q11.2

4q31.1

Type of geneprotein-codingprotein-coding
Description60S ribosomal protein L23alarge ribosomal subunit protein uL23melanoma differentiation-associated gene 20N-alpha-acetyltransferase 15, NatA auxiliary subunitN-terminal acetyltransferaseNMDA receptor regulated 1NMDA receptor-regulated protein 1gastric cancer antigen Ga19protein tubedown-1transcriptional coactivator tubedown-100tubedown-1
Modification date2020031320200313
UniProtAcc.

Q9BXJ9

Ensembl transtripts involved in fusion geneENST00000422514, ENST00000496182, 
ENST00000394938, ENST00000472628, 
ENST00000296543, ENST00000398947, 
ENST00000480277, ENST00000515576, 
Fusion gene scores* DoF score5 X 5 X 2=5014 X 11 X 8=1232
# samples 515
** MAII scorelog2(5/50*10)=0log2(15/1232*10)=-3.03796785019902
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RPL23A [Title/Abstract] AND NAA15 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRPL23A(27050502)-NAA15(140278552), # samples:1
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
TgeneNAA15

GO:0006474

N-terminal protein amino acid acetylation

15496142

TgeneNAA15

GO:0045893

positive regulation of transcription, DNA-templated

12145306


check buttonFusion gene breakpoints across RPL23A (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 NAA15 (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
ChiTaRS5.0N/ABG623888RPL23Achr17

27050502

+NAA15chr4

140278552

+


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Fusion Gene ORF analysis for RPL23A-NAA15

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-3CDSENST00000422514ENST00000296543RPL23Achr17

27050502

+NAA15chr4

140278552

+
intron-3CDSENST00000422514ENST00000398947RPL23Achr17

27050502

+NAA15chr4

140278552

+
intron-intronENST00000422514ENST00000480277RPL23Achr17

27050502

+NAA15chr4

140278552

+
intron-intronENST00000422514ENST00000515576RPL23Achr17

27050502

+NAA15chr4

140278552

+
intron-3CDSENST00000496182ENST00000296543RPL23Achr17

27050502

+NAA15chr4

140278552

+
intron-3CDSENST00000496182ENST00000398947RPL23Achr17

27050502

+NAA15chr4

140278552

+
intron-intronENST00000496182ENST00000480277RPL23Achr17

27050502

+NAA15chr4

140278552

+
intron-intronENST00000496182ENST00000515576RPL23Achr17

27050502

+NAA15chr4

140278552

+
intron-3CDSENST00000394938ENST00000296543RPL23Achr17

27050502

+NAA15chr4

140278552

+
intron-3CDSENST00000394938ENST00000398947RPL23Achr17

27050502

+NAA15chr4

140278552

+
intron-intronENST00000394938ENST00000480277RPL23Achr17

27050502

+NAA15chr4

140278552

+
intron-intronENST00000394938ENST00000515576RPL23Achr17

27050502

+NAA15chr4

140278552

+
intron-3CDSENST00000472628ENST00000296543RPL23Achr17

27050502

+NAA15chr4

140278552

+
intron-3CDSENST00000472628ENST00000398947RPL23Achr17

27050502

+NAA15chr4

140278552

+
intron-intronENST00000472628ENST00000480277RPL23Achr17

27050502

+NAA15chr4

140278552

+
intron-intronENST00000472628ENST00000515576RPL23Achr17

27050502

+NAA15chr4

140278552

+

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 RPL23A-NAA15


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 RPL23A-NAA15


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
.NAA15

Q9BXJ9

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: Auxillary subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity. The NAT activity may be important for vascular, hematopoietic and neuronal growth and development. Required to control retinal neovascularization in adult ocular endothelial cells. In complex with XRCC6 and XRCC5 (Ku80), up-regulates transcription from the osteocalcin promoter. {ECO:0000269|PubMed:11687548, ECO:0000269|PubMed:12145306, ECO:0000269|PubMed:15496142}.

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 RPL23A-NAA15


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 RPL23A-NAA15


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 RPL23A-NAA15


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 RPL23A-NAA15


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRPL23AC0006142Malignant neoplasm of breast1CTD_human
HgeneRPL23AC0030567Parkinson Disease1CTD_human
HgeneRPL23AC0678222Breast Carcinoma1CTD_human
HgeneRPL23AC1257931Mammary Neoplasms, Human1CTD_human
HgeneRPL23AC1458155Mammary Neoplasms1CTD_human
HgeneRPL23AC4704874Mammary Carcinoma, Human1CTD_human
TgeneNAA15C0020796Profound Mental Retardation1CTD_human
TgeneNAA15C0025363Mental Retardation, Psychosocial1CTD_human
TgeneNAA15C0917816Mental deficiency1CTD_human
TgeneNAA15C3714756Intellectual Disability1CTD_human;GENOMICS_ENGLAND
TgeneNAA15C4540470MENTAL RETARDATION, AUTOSOMAL DOMINANT 501GENOMICS_ENGLAND;UNIPROT