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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 15962

FusionGeneSummary for HDAC8_NDUFS2

check button Fusion gene summary
Fusion gene informationFusion gene name: HDAC8_NDUFS2
Fusion gene ID: 15962
HgeneTgene
Gene symbol

HDAC8

NDUFS2

Gene ID

55869

4720

Gene namehistone deacetylase 8NADH:ubiquinone oxidoreductase core subunit S2
SynonymsCDA07|CDLS5|HD8|HDACL1|MRXS6|RPD3|WTSCI-49
Cytomap

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 date2018051920180522
UniProtAcc

Q9BY41

O75306

Ensembl transtripts involved in fusion geneENST00000373583, ENST00000373573, 
ENST00000373589, ENST00000429103, 
ENST00000373571, ENST00000439122, 
ENST00000373560, ENST00000373559, 
ENST00000373561, ENST00000478743, 
ENST00000373556, ENST00000373554, 
ENST00000367993, ENST00000392179, 
ENST00000476409, ENST00000465923, 
Fusion gene scores* DoF score3 X 3 X 3=275 X 5 X 3=75
# samples 35
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(5/75*10)=-0.584962500721156
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]

Functional or gene categories assigned by FusionGDB annotation
* 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 three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BG979781HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-3CDSENST00000373583ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373583ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373583ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000373583ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373573ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373573ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373573ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000373573ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373589ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373589ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373589ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000373589ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000429103ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000429103ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000429103ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000429103ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373571ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373571ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373571ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000373571ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000439122ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000439122ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000439122ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000439122ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373560ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373560ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373560ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000373560ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373559ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373559ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373559ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000373559ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373561ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373561ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373561ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000373561ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000478743ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000478743ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000478743ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000478743ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373556ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373556ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373556ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000373556ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373554ENST00000367993HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373554ENST00000392179HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3CDSENST00000373554ENST00000476409HDAC8chrX

71694217

-NDUFS2chr1

161179681

+
intron-3UTRENST00000373554ENST00000465923HDAC8chrX

71694217

-NDUFS2chr1

161179681

+

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FusionProtFeatures for HDAC8_NDUFS2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HDAC8

Q9BY41

NDUFS2

O75306

Core subunit of the mitochondrial membrane respiratorychain NADH dehydrogenase (Complex I) that is believed to belong tothe minimal assembly required for catalysis. Complex I functionsin the transfer of electrons from NADH to the respiratory chain.The immediate electron acceptor for the enzyme is believed to beubiquinone (PubMed:12611891). {ECO:0000269|PubMed:12611891}.

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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FusionGeneSequence for HDAC8_NDUFS2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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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RelatedDrugs for HDAC8_NDUFS2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneHDAC8Q9BY41DB01592IronHistone deacetylase 8small moleculeapproved
HgeneHDAC8Q9BY41DB01593ZincHistone deacetylase 8small moleculeapproved|investigational
HgeneHDAC8Q9BY41DB02546VorinostatHistone deacetylase 8small moleculeapproved|investigational

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RelatedDiseases for HDAC8_NDUFS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHDAC8C3550903CORNELIA DE LANGE SYNDROME 51UNIPROT
TgeneNDUFS2C0162666Mitochondrial Encephalomyopathies1CTD_human
TgeneNDUFS2C0878544Cardiomyopathies1CTD_human
TgeneNDUFS2C1838979MITOCHONDRIAL COMPLEX I DEFICIENCY1CTD_human;UNIPROT