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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:NCOA6-PSMD13 (FusionGDB2 ID:57456)

Fusion Gene Summary for NCOA6-PSMD13

check button Fusion gene summary
Fusion gene informationFusion gene name: NCOA6-PSMD13
Fusion gene ID: 57456
HgeneTgene
Gene symbol

NCOA6

PSMD13

Gene ID

23054

5719

Gene namenuclear receptor coactivator 6proteasome 26S subunit, non-ATPase 13
SynonymsAIB3|ASC2|NRC|PRIP|RAP250|TRBPHSPC027|Rpn9|S11|p40.5
Cytomap

20q11.22

11p15.5

Type of geneprotein-codingprotein-coding
Descriptionnuclear receptor coactivator 6NRC RAP250PPAR-interacting proteinactivating signal cointegrator-2amplified in breast cancer protein 3amplified in breast cancer-3 proteincancer-amplified transcriptional coactivator ASC-2nuclear receptor coactivator R26S proteasome non-ATPase regulatory subunit 1326S proteasome regulatory subunit RPN926S proteasome regulatory subunit S1126S proteasome regulatory subunit p40.526S proteasome subunit p40.5proteasome (prosome, macropain) 26S subunit, non-ATPase, 13
Modification date2020031320200313
UniProtAcc

Q14686

.
Ensembl transtripts involved in fusion geneENST00000593786, ENST00000374796, 
ENST00000359003, 
ENST00000532097, 
ENST00000431206, ENST00000352303, 
ENST00000532025, 
Fusion gene scores* DoF score19 X 14 X 11=29268 X 11 X 5=440
# samples 259
** MAII scorelog2(25/2926*10)=-3.5489297694764
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/440*10)=-2.28950661719499
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NCOA6 [Title/Abstract] AND PSMD13 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNCOA6(33329362)-PSMD13(244041), # 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
HgeneNCOA6

GO:0006352

DNA-templated transcription, initiation

10567404

HgeneNCOA6

GO:0006974

cellular response to DNA damage stimulus

17500065

HgeneNCOA6

GO:0030099

myeloid cell differentiation

11302752

HgeneNCOA6

GO:0045944

positive regulation of transcription by RNA polymerase II

11443112


check buttonFusion gene breakpoints across NCOA6 (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 PSMD13 (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-DD-AAD0-01ANCOA6chr20

33329362

-PSMD13chr11

244041

+
ChimerDB4LIHCTCGA-DD-AAD0NCOA6chr20

33329362

-PSMD13chr11

244041

+


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Fusion Gene ORF analysis for NCOA6-PSMD13

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-3CDSENST00000593786ENST00000532097NCOA6chr20

33329362

-PSMD13chr11

244041

+
intron-3CDSENST00000593786ENST00000431206NCOA6chr20

33329362

-PSMD13chr11

244041

+
intron-3CDSENST00000593786ENST00000352303NCOA6chr20

33329362

-PSMD13chr11

244041

+
intron-intronENST00000593786ENST00000532025NCOA6chr20

33329362

-PSMD13chr11

244041

+
intron-3CDSENST00000374796ENST00000532097NCOA6chr20

33329362

-PSMD13chr11

244041

+
intron-3CDSENST00000374796ENST00000431206NCOA6chr20

33329362

-PSMD13chr11

244041

+
intron-3CDSENST00000374796ENST00000352303NCOA6chr20

33329362

-PSMD13chr11

244041

+
intron-intronENST00000374796ENST00000532025NCOA6chr20

33329362

-PSMD13chr11

244041

+
intron-3CDSENST00000359003ENST00000532097NCOA6chr20

33329362

-PSMD13chr11

244041

+
intron-3CDSENST00000359003ENST00000431206NCOA6chr20

33329362

-PSMD13chr11

244041

+
intron-3CDSENST00000359003ENST00000352303NCOA6chr20

33329362

-PSMD13chr11

244041

+
intron-intronENST00000359003ENST00000532025NCOA6chr20

33329362

-PSMD13chr11

244041

+

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 NCOA6-PSMD13


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 NCOA6-PSMD13


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
NCOA6

Q14686

.
FUNCTION: Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Coactivates expression in an agonist- and AF2-dependent manner. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ERs), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Probably functions as a general coactivator, rather than just a nuclear receptor coactivator. May also be involved in the coactivation of the NF-kappa-B pathway. May coactivate expression via a remodeling of chromatin and its interaction with histone acetyltransferase proteins.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.

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 NCOA6-PSMD13


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 NCOA6-PSMD13


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 NCOA6-PSMD13


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 NCOA6-PSMD13


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNCOA6C0014175Endometriosis1CTD_human
HgeneNCOA6C0269102Endometrioma1CTD_human
TgenePSMD13C0019693HIV Infections1CTD_human
TgenePSMD13C4505456HIV Coinfection1CTD_human