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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: 3247

FusionGeneSummary for ATP10B_ATP6AP1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP10B_ATP6AP1
Fusion gene ID: 3247
HgeneTgene
Gene symbol

ATP10B

ATP6AP1

Gene ID

23120

537

Gene nameATPase phospholipid transporting 10B (putative)ATPase H+ transporting accessory protein 1
SynonymsATPVB16A|ATP6IP1|ATP6S1|Ac45|CF2|VATPS1|XAP-3|XAP3
Cytomap

5q34

Xq28

Type of geneprotein-codingprotein-coding
Descriptionprobable phospholipid-transporting ATPase VBATPase, class V, type 10BP4-ATPase flippase complex alpha subunit ATP10BV-type proton ATPase subunit S1ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1ATPase, H+ transporting, lysosomal accessory protein 1ATPase, H+ transporting, lysosomal interacting protein 1H-ATPase subunitV-ATPase Ac45 subunitV-A
Modification date2018052320180519
UniProtAcc

O94823

Q15904

Ensembl transtripts involved in fusion geneENST00000327245, ENST00000518411, 
ENST00000369762, ENST00000484908, 
Fusion gene scores* DoF score2 X 2 X 2=82 X 2 X 2=8
# samples 22
** MAII scorelog2(2/8*10)=1.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: ATP10B [Title/Abstract] AND ATP6AP1 [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
ChiTaRS3.1AL121297ATP10Bchr5

160028430

+ATP6AP1chrX

153664699

-
* 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-3UTRENST00000327245ENST00000369762ATP10Bchr5

160028430

+ATP6AP1chrX

153664699

-
intron-intronENST00000327245ENST00000484908ATP10Bchr5

160028430

+ATP6AP1chrX

153664699

-
intron-3UTRENST00000518411ENST00000369762ATP10Bchr5

160028430

+ATP6AP1chrX

153664699

-
intron-intronENST00000518411ENST00000484908ATP10Bchr5

160028430

+ATP6AP1chrX

153664699

-

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FusionProtFeatures for ATP10B_ATP6AP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP10B

O94823

ATP6AP1

Q15904

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 (Probable). {ECO:0000305}. Accessory subunit of the proton-transporting vacuolar(V)-ATPase protein pump, which is required for luminalacidification of secretory vesicles. Guides the V-type ATPase intospecialized subcellular compartments, such as neuroendocrineregulated secretory vesicles or the ruffled border of theosteoclast, thereby regulating its activity. Involved in membranetrafficking and Ca(2+)-dependent membrane fusion. May play a rolein the assembly of the V-type ATPase complex. In aerobicconditions, involved in intracellular iron homeostasis, thustriggering the activity of Fe(2+) prolyl hydroxylase (PHD)enzymes, and leading to HIF1A hydroxylation and subsequentproteasomal degradation (PubMed:28296633).{ECO:0000269|PubMed:28296633, ECO:0000305|PubMed:27231034}.

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 ATP10B_ATP6AP1


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 ATP10B_ATP6AP1


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 ATP10B_ATP6AP1


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

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RelatedDiseases for ATP10B_ATP6AP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneATP6AP1C0024301Lymphoma, Follicular1CTD_human