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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:HDAC8-NDUFS2 (FusionGDB2 ID:HG55869TG4720)

Fusion Gene Summary for HDAC8-NDUFS2

check button Fusion gene summary
Fusion gene informationFusion gene name: HDAC8-NDUFS2
Fusion gene ID: hg55869tg4720
HgeneTgene
Gene symbol

HDAC8

NDUFS2

Gene ID

55869

4720

Gene namehistone deacetylase 8NADH:ubiquinone oxidoreductase core subunit S2
SynonymsCDA07|CDLS5|HD8|HDACL1|KDAC8|MRXS6|RPD3|WTSCI-49|MC1DN6
Cytomap('HDAC8')('NDUFS2')

Xq13.1

1q23.3

Type of geneprotein-codingprotein-coding
Descriptionhistone deacetylase 8histone deacetylase-like 1NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrialCI-49kDNADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)NADH-ubiquinone oxidoreductase 49 kDa subunitNADH-ubiquinone oxidoreductase NDUFS2 subunitcomp
Modification date2020032920200313
UniProtAcc.

O75306

Ensembl transtripts involved in fusion geneENST00000373554, ENST00000373556, 
ENST00000373559, ENST00000373560, 
ENST00000373561, ENST00000373571, 
ENST00000373573, ENST00000373583, 
ENST00000373589, ENST00000429103, 
ENST00000439122, ENST00000478743, 
Fusion gene scores* DoF score4 X 4 X 3=487 X 8 X 5=280
# samples 49
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/280*10)=-1.63742992061529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HDAC8 [Title/Abstract] AND NDUFS2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHDAC8(71694217)-NDUFS2(161179681), # 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
HgeneHDAC8

GO:0031397

negative regulation of protein ubiquitination

16809764

HgeneHDAC8

GO:0031647

regulation of protein stability

16809764

TgeneNDUFS2

GO:0006979

response to oxidative stress

12857734



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/ABG979781HDAC8chrX

71694217

-NDUFS2chr1

161179681

+


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Fusion Gene ORF analysis for HDAC8-NDUFS2

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-3CDSENST00000373554ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373554ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373554ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373556ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373556ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373556ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373559ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373559ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373559ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373560ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373560ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373560ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373561ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373561ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373561ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373571ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373571ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373571ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373573ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373573ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373573ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373583ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373583ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373583ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373589ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373589ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373589ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000429103ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000429103ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000429103ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000439122ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000439122ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000439122ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000478743ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000478743ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000478743ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000373554ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000373556ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000373559ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000373560ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000373561ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000373571ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000373573ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000373583ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000373589ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000429103ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000439122ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000478743ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+

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 HDAC8-NDUFS2


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)


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Fusion Protein Features for HDAC8-NDUFS2


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/:71694217/:161179681)
- 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
.NDUFS2

O75306

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:30922174, PubMed:22036843). Essential for the catalytic activity of complex I (PubMed:30922174, PubMed:22036843). Essential for the assembly of complex I (By similarity). Redox-sensitive, critical component of the oxygen-sensing pathway in the pulmonary vasculature which plays a key role in acute pulmonary oxygen-sensing and hypoxic pulmonary vasoconstriction (PubMed:30922174). Plays an important role in carotid body sensing of hypoxia (By similarity). Essential for glia-like neural stem and progenitor cell proliferation, differentiation and subsequent oligodendrocyte or neuronal maturation (By similarity). {ECO:0000250|UniProtKB:Q91WD5, ECO:0000269|PubMed:22036843, ECO:0000269|PubMed:30922174}.

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 HDAC8-NDUFS2


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 HDAC8-NDUFS2


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 HDAC8-NDUFS2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneNDUFS2O75306DB00157NADHSmall moleculeApproved|Nutraceutical

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Related Diseases for HDAC8-NDUFS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHDAC8C0270972Cornelia De Lange Syndrome5CLINGEN;ORPHANET
HgeneHDAC8C3550903CORNELIA DE LANGE SYNDROME 52GENOMICS_ENGLAND;UNIPROT
HgeneHDAC8C1839736WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME1GENOMICS_ENGLAND;ORPHANET
TgeneC1838979MITOCHONDRIAL COMPLEX I DEFICIENCY4GENOMICS_ENGLAND;ORPHANET
TgeneC0023264Leigh Disease2GENOMICS_ENGLAND
TgeneC4748759MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 62GENOMICS_ENGLAND;UNIPROT
TgeneC0033141Cardiomyopathies, Primary1CTD_human
TgeneC0036529Myocardial Diseases, Secondary1CTD_human
TgeneC0162666Mitochondrial Encephalomyopathies1CTD_human
TgeneC0751651Mitochondrial Diseases1GENOMICS_ENGLAND
TgeneC0878544Cardiomyopathies1CTD_human
TgeneC0917796Optic Atrophy, Hereditary, Leber1ORPHANET