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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: 23877

FusionGeneSummary for NDUFS2_ATP1A3

check button Fusion gene summary
Fusion gene informationFusion gene name: NDUFS2_ATP1A3
Fusion gene ID: 23877
HgeneTgene
Gene symbol

NDUFS2

ATP1A3

Gene ID

4720

478

Gene nameNADH:ubiquinone oxidoreductase core subunit S2ATPase Na+/K+ transporting subunit alpha 3
SynonymsCI-49AHC2|ATP1A1|CAPOS|DYT12|RDP
Cytomap

1q23.3

19q13.2

Type of geneprotein-codingprotein-coding
DescriptionNADH 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 subunitcompsodium/potassium-transporting ATPase subunit alpha-3ATPase, Na+/K+ transporting, alpha 3 polypeptideNa(+)/K(+) ATPase alpha(III) subunitNa(+)/K(+) ATPase alpha-3 subunitNa+, K+ activated adenosine triphosphatase alpha subunitNa+/K+ ATPase 3sodium pu
Modification date2018052220180523
UniProtAcc

O75306

P13637

Ensembl transtripts involved in fusion geneENST00000367993, ENST00000392179, 
ENST00000476409, ENST00000465923, 
ENST00000302102, ENST00000545399, 
ENST00000543770, ENST00000602133, 
ENST00000468774, 
Fusion gene scores* DoF score4 X 4 X 3=483 X 3 X 2=18
# samples 43
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NDUFS2 [Title/Abstract] AND ATP1A3 [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
HgeneNDUFS2

GO:0006979

response to oxidative stress

12857734

TgeneATP1A3

GO:0006883

cellular sodium ion homeostasis

10636900

TgeneATP1A3

GO:0010107

potassium ion import

10636900

TgeneATP1A3

GO:0030007

cellular potassium ion homeostasis

10636900

TgeneATP1A3

GO:0036376

sodium ion export across plasma membrane

10636900


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
ChiTaRS3.1BQ339562NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
* 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
In-frameENST00000367993ENST00000302102NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
In-frameENST00000367993ENST00000545399NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
In-frameENST00000367993ENST00000543770NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
In-frameENST00000367993ENST00000602133NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
5CDS-intronENST00000367993ENST00000468774NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
In-frameENST00000392179ENST00000302102NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
In-frameENST00000392179ENST00000545399NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
In-frameENST00000392179ENST00000543770NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
In-frameENST00000392179ENST00000602133NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
5CDS-intronENST00000392179ENST00000468774NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
intron-3CDSENST00000476409ENST00000302102NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
intron-3CDSENST00000476409ENST00000545399NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
intron-3CDSENST00000476409ENST00000543770NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
intron-3CDSENST00000476409ENST00000602133NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
intron-intronENST00000476409ENST00000468774NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
3UTR-3CDSENST00000465923ENST00000302102NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
3UTR-3CDSENST00000465923ENST00000545399NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
3UTR-3CDSENST00000465923ENST00000543770NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
3UTR-3CDSENST00000465923ENST00000602133NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
3UTR-intronENST00000465923ENST00000468774NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-

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FusionProtFeatures for NDUFS2_ATP1A3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NDUFS2

O75306

ATP1A3

P13637

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}. This is the catalytic component of the active enzyme,which catalyzes the hydrolysis of ATP coupled with the exchange ofsodium and potassium ions across the plasma membrane. This actioncreates the electrochemical gradient of sodium and potassium ions,providing the energy for active transport of various nutrients.

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 NDUFS2_ATP1A3


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.
>In-frame_NDUFS2_ENST00000367993_chr1_161182190_+_ATP1A3_ENST00000302102_chr19_42482933_-_0aa

>In-frame_NDUFS2_ENST00000367993_chr1_161182190_+_ATP1A3_ENST00000545399_chr19_42482933_-_0aa

>In-frame_NDUFS2_ENST00000367993_chr1_161182190_+_ATP1A3_ENST00000543770_chr19_42482933_-_0aa

>In-frame_NDUFS2_ENST00000367993_chr1_161182190_+_ATP1A3_ENST00000602133_chr19_42482933_-_0aa

>In-frame_NDUFS2_ENST00000392179_chr1_161182190_+_ATP1A3_ENST00000302102_chr19_42482933_-_0aa

>In-frame_NDUFS2_ENST00000392179_chr1_161182190_+_ATP1A3_ENST00000545399_chr19_42482933_-_0aa

>In-frame_NDUFS2_ENST00000392179_chr1_161182190_+_ATP1A3_ENST00000543770_chr19_42482933_-_0aa

>In-frame_NDUFS2_ENST00000392179_chr1_161182190_+_ATP1A3_ENST00000602133_chr19_42482933_-_0aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_NDUFS2_ENST00000367993_chr1_161182190_+_ATP1A3_ENST00000302102_chr19_42482933_-_0nt

>In-frame_NDUFS2_ENST00000367993_chr1_161182190_+_ATP1A3_ENST00000545399_chr19_42482933_-_0nt

>In-frame_NDUFS2_ENST00000367993_chr1_161182190_+_ATP1A3_ENST00000543770_chr19_42482933_-_0nt

>In-frame_NDUFS2_ENST00000367993_chr1_161182190_+_ATP1A3_ENST00000602133_chr19_42482933_-_0nt

>In-frame_NDUFS2_ENST00000392179_chr1_161182190_+_ATP1A3_ENST00000302102_chr19_42482933_-_0nt

>In-frame_NDUFS2_ENST00000392179_chr1_161182190_+_ATP1A3_ENST00000545399_chr19_42482933_-_0nt

>In-frame_NDUFS2_ENST00000392179_chr1_161182190_+_ATP1A3_ENST00000543770_chr19_42482933_-_0nt

>In-frame_NDUFS2_ENST00000392179_chr1_161182190_+_ATP1A3_ENST00000602133_chr19_42482933_-_0nt


* Fusion transcript sequences (Full-length transcript).
>In-frame_NDUFS2_ENST00000367993_chr1_161182190_+_ATP1A3_ENST00000302102_chr19_42482933_-_0nt

>In-frame_NDUFS2_ENST00000367993_chr1_161182190_+_ATP1A3_ENST00000545399_chr19_42482933_-_0nt

>In-frame_NDUFS2_ENST00000367993_chr1_161182190_+_ATP1A3_ENST00000543770_chr19_42482933_-_0nt

>In-frame_NDUFS2_ENST00000367993_chr1_161182190_+_ATP1A3_ENST00000602133_chr19_42482933_-_0nt

>In-frame_NDUFS2_ENST00000392179_chr1_161182190_+_ATP1A3_ENST00000302102_chr19_42482933_-_0nt

>In-frame_NDUFS2_ENST00000392179_chr1_161182190_+_ATP1A3_ENST00000545399_chr19_42482933_-_0nt

>In-frame_NDUFS2_ENST00000392179_chr1_161182190_+_ATP1A3_ENST00000543770_chr19_42482933_-_0nt

>In-frame_NDUFS2_ENST00000392179_chr1_161182190_+_ATP1A3_ENST00000602133_chr19_42482933_-_0nt


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FusionGenePPI for NDUFS2_ATP1A3


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 NDUFS2_ATP1A3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneATP1A3P13637DB01092OuabainSodium/potassium-transporting ATPase subunit alpha-3small moleculeapproved

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RelatedDiseases for NDUFS2_ATP1A3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNDUFS2C0162666Mitochondrial Encephalomyopathies1CTD_human
HgeneNDUFS2C0878544Cardiomyopathies1CTD_human
HgeneNDUFS2C1838979MITOCHONDRIAL COMPLEX I DEFICIENCY1CTD_human;UNIPROT
TgeneATP1A3C1868681DYSTONIA 123CTD_human;ORPHANET;UNIPROT
TgeneATP1A3C3553788ALTERNATING HEMIPLEGIA OF CHILDHOOD 23UNIPROT
TgeneATP1A3C0005586Bipolar Disorder2PSYGENET
TgeneATP1A3C0338488Alternating hemiplegia of childhood2CTD_human;ORPHANET
TgeneATP1A3C0011570Mental Depression1PSYGENET
TgeneATP1A3C0011581Depressive disorder1HPO;PSYGENET
TgeneATP1A3C0013421Dystonia1CTD_human;HPO
TgeneATP1A3C0018801Heart failure1CTD_human
TgeneATP1A3C0029408Degenerative polyarthritis1CTD_human
TgeneATP1A3C0178417Anhedonia1PSYGENET
TgeneATP1A3C0242422Parkinsonian Disorders1CTD_human;HPO
TgeneATP1A3C0242698Ventricular Dysfunction, Left1CTD_human
TgeneATP1A3C1832466CAPOS syndrome1ORPHANET;UNIPROT