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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: 3308

FusionGeneSummary for ATP1A3_CNBP

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP1A3_CNBP
Fusion gene ID: 3308
HgeneTgene
Gene symbol

ATP1A3

CNBP

Gene ID

478

7555

Gene nameATPase Na+/K+ transporting subunit alpha 3CCHC-type zinc finger nucleic acid binding protein
SynonymsAHC2|ATP1A1|CAPOS|DYT12|RDPCNBP1|DM2|PROMM|RNF163|ZCCHC22|ZNF9
Cytomap

19q13.2

3q21.3

Type of geneprotein-codingprotein-coding
Descriptionsodium/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 pucellular nucleic acid-binding proteinerythroid differentiation-relatedsterol regulatory element-binding proteinzinc finger protein 273zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)
Modification date2018052320180519
UniProtAcc

P13637

P62633

Ensembl transtripts involved in fusion geneENST00000302102, ENST00000545399, 
ENST00000543770, ENST00000602133, 
ENST00000468774, 
ENST00000502976, 
ENST00000422453, ENST00000451728, 
ENST00000446936, ENST00000500450, 
ENST00000504813, ENST00000441626, 
Fusion gene scores* DoF score2 X 2 X 1=42 X 2 X 1=4
# samples 22
** MAII scorelog2(2/4*10)=2.32192809488736log2(2/4*10)=2.32192809488736
Context

PubMed: ATP1A3 [Title/Abstract] AND CNBP [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
HgeneATP1A3

GO:0006883

cellular sodium ion homeostasis

10636900

HgeneATP1A3

GO:0010107

potassium ion import

10636900

HgeneATP1A3

GO:0030007

cellular potassium ion homeostasis

10636900

HgeneATP1A3

GO:0036376

sodium ion export across plasma membrane

10636900

TgeneCNBP

GO:0000122

negative regulation of transcription by RNA polymerase II

23774591


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
ChiTaRS3.1AV733123ATP1A3chr19

42474365

+CNBPchr3

128889023

-
* 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-3UTRENST00000302102ENST00000502976ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000302102ENST00000422453ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000302102ENST00000451728ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000302102ENST00000446936ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000302102ENST00000500450ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000302102ENST00000504813ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000302102ENST00000441626ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000545399ENST00000502976ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000545399ENST00000422453ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000545399ENST00000451728ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000545399ENST00000446936ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000545399ENST00000500450ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000545399ENST00000504813ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000545399ENST00000441626ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000543770ENST00000502976ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000543770ENST00000422453ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000543770ENST00000451728ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000543770ENST00000446936ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000543770ENST00000500450ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000543770ENST00000504813ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000543770ENST00000441626ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000602133ENST00000502976ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000602133ENST00000422453ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000602133ENST00000451728ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000602133ENST00000446936ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000602133ENST00000500450ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000602133ENST00000504813ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000602133ENST00000441626ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000468774ENST00000502976ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000468774ENST00000422453ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000468774ENST00000451728ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000468774ENST00000446936ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000468774ENST00000500450ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000468774ENST00000504813ATP1A3chr19

42474365

+CNBPchr3

128889023

-
intron-3UTRENST00000468774ENST00000441626ATP1A3chr19

42474365

+CNBPchr3

128889023

-

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FusionProtFeatures for ATP1A3_CNBP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP1A3

P13637

CNBP

P62633

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 ATP1A3_CNBP


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 ATP1A3_CNBP


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 ATP1A3_CNBP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneATP1A3P13637DB01092OuabainSodium/potassium-transporting ATPase subunit alpha-3small moleculeapproved

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RelatedDiseases for ATP1A3_CNBP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP1A3C1868681DYSTONIA 123CTD_human;ORPHANET;UNIPROT
HgeneATP1A3C3553788ALTERNATING HEMIPLEGIA OF CHILDHOOD 23UNIPROT
HgeneATP1A3C0005586Bipolar Disorder2PSYGENET
HgeneATP1A3C0338488Alternating hemiplegia of childhood2CTD_human;ORPHANET
HgeneATP1A3C0011570Mental Depression1PSYGENET
HgeneATP1A3C0011581Depressive disorder1HPO;PSYGENET
HgeneATP1A3C0013421Dystonia1CTD_human;HPO
HgeneATP1A3C0018801Heart failure1CTD_human
HgeneATP1A3C0029408Degenerative polyarthritis1CTD_human
HgeneATP1A3C0178417Anhedonia1PSYGENET
HgeneATP1A3C0242422Parkinsonian Disorders1CTD_human;HPO
HgeneATP1A3C0242698Ventricular Dysfunction, Left1CTD_human
HgeneATP1A3C1832466CAPOS syndrome1ORPHANET;UNIPROT