FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 3495

FusionGeneSummary for ATP8A1_ATP8A1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP8A1_ATP8A1
Fusion gene ID: 3495
HgeneTgene
Gene symbol

ATP8A1

ATP8A1

Gene ID

10396

10396

Gene nameATPase phospholipid transporting 8A1ATPase phospholipid transporting 8A1
SynonymsATPASEII|ATPIA|ATPP2ATPASEII|ATPIA|ATPP2
Cytomap

4p13

4p13

Type of geneprotein-codingprotein-coding
Descriptionphospholipid-transporting ATPase IAATPase IIATPase class I type 8A member 1ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1P4-ATPase flippase complex alpha subunit ATP8A1aminophospholipid translocasechromaffin granule ATPase phospholipid-transporting ATPase IAATPase IIATPase class I type 8A member 1ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1P4-ATPase flippase complex alpha subunit ATP8A1aminophospholipid translocasechromaffin granule ATPase
Modification date2018052320180523
UniProtAcc

Q9Y2Q0

Q9Y2Q0

Ensembl transtripts involved in fusion geneENST00000381668, ENST00000264449, 
ENST00000510289, 
ENST00000381668, 
ENST00000264449, ENST00000510289, 
Fusion gene scores* DoF score7 X 7 X 5=2452 X 2 X 2=8
# samples 72
** MAII scorelog2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: ATP8A1 [Title/Abstract] AND ATP8A1 [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

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
ChiTaRS3.1AA740981ATP8A1chr4

42424196

+ATP8A1chr4

42422050

+
* 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-intronENST00000381668ENST00000381668ATP8A1chr4

42424196

+ATP8A1chr4

42422050

+
intron-intronENST00000381668ENST00000264449ATP8A1chr4

42424196

+ATP8A1chr4

42422050

+
intron-intronENST00000381668ENST00000510289ATP8A1chr4

42424196

+ATP8A1chr4

42422050

+
intron-intronENST00000264449ENST00000381668ATP8A1chr4

42424196

+ATP8A1chr4

42422050

+
intron-intronENST00000264449ENST00000264449ATP8A1chr4

42424196

+ATP8A1chr4

42422050

+
intron-intronENST00000264449ENST00000510289ATP8A1chr4

42424196

+ATP8A1chr4

42422050

+
intron-intronENST00000510289ENST00000381668ATP8A1chr4

42424196

+ATP8A1chr4

42422050

+
intron-intronENST00000510289ENST00000264449ATP8A1chr4

42424196

+ATP8A1chr4

42422050

+
intron-intronENST00000510289ENST00000510289ATP8A1chr4

42424196

+ATP8A1chr4

42422050

+

Top

FusionProtFeatures for ATP8A1_ATP8A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP8A1

Q9Y2Q0

ATP8A1

Q9Y2Q0

Catalytic component of a P4-ATPase flippase complexwhich catalyzes the hydrolysis of ATP coupled to the transport ofaminophospholipids from the outer to the inner leaflet of variousmembranes and ensures the maintenance of asymmetric distributionof phospholipids. Phospholipid translocation seems also to beimplicated in vesicle formation and in uptake of lipid signalingmolecules. In vitro, its ATPase activity is selectively andstereospecifically stimulated by phosphatidylserine (PS). Theflippase complex ATP8A1:TMEM30A seems to play a role in regulationof cell migration probably involving flippase-mediatedtranslocation of phosphatidylethanolamine (PE) at the plasmamembrane. Acts as aminophospholipid translocase at the plasmamembrane in neuronal cells. Catalytic component of a P4-ATPase flippase complexwhich catalyzes the hydrolysis of ATP coupled to the transport ofaminophospholipids from the outer to the inner leaflet of variousmembranes and ensures the maintenance of asymmetric distributionof phospholipids. Phospholipid translocation seems also to beimplicated in vesicle formation and in uptake of lipid signalingmolecules. In vitro, its ATPase activity is selectively andstereospecifically stimulated by phosphatidylserine (PS). Theflippase complex ATP8A1:TMEM30A seems to play a role in regulationof cell migration probably involving flippase-mediatedtranslocation of phosphatidylethanolamine (PE) at the plasmamembrane. Acts as aminophospholipid translocase at the plasmamembrane in neuronal cells.

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


Top

FusionGeneSequence for ATP8A1_ATP8A1


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).

Top

FusionGenePPI for ATP8A1_ATP8A1


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


Top

RelatedDrugs for ATP8A1_ATP8A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for ATP8A1_ATP8A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource