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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: 3424

FusionGeneSummary for ATP6AP1_CPB1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6AP1_CPB1
Fusion gene ID: 3424
HgeneTgene
Gene symbol

ATP6AP1

CPB1

Gene ID

537

1360

Gene nameATPase H+ transporting accessory protein 1carboxypeptidase B1
Synonyms16A|ATP6IP1|ATP6S1|Ac45|CF2|VATPS1|XAP-3|XAP3CPB|PASP|PCPB
Cytomap

Xq28

3q24

Type of geneprotein-codingprotein-coding
DescriptionV-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-Acarboxypeptidase Bcarboxypeptidase B1 (tissue)pancreas-specific proteinpancreatic carboxypeptidase Bprocarboxypeptidase Bprotaminasetissue carboxypeptidase B
Modification date2018051920180523
UniProtAcc

Q15904

P15086

Ensembl transtripts involved in fusion geneENST00000369762, ENST00000484908, 
ENST00000491148, ENST00000282957, 
ENST00000498639, 
Fusion gene scores* DoF score4 X 2 X 3=2421 X 24 X 3=1512
# samples 419
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(19/1512*10)=-2.99238681589013
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP6AP1 [Title/Abstract] AND CPB1 [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
TCGALDBRCATCGA-GM-A2DM-01AATP6AP1chrX

153664862

+CPB1chr3

148552348

+
* 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
Frame-shiftENST00000369762ENST00000491148ATP6AP1chrX

153664862

+CPB1chr3

148552348

+
Frame-shiftENST00000369762ENST00000282957ATP6AP1chrX

153664862

+CPB1chr3

148552348

+
5CDS-intronENST00000369762ENST00000498639ATP6AP1chrX

153664862

+CPB1chr3

148552348

+
intron-3CDSENST00000484908ENST00000491148ATP6AP1chrX

153664862

+CPB1chr3

148552348

+
intron-3CDSENST00000484908ENST00000282957ATP6AP1chrX

153664862

+CPB1chr3

148552348

+
intron-intronENST00000484908ENST00000498639ATP6AP1chrX

153664862

+CPB1chr3

148552348

+

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FusionProtFeatures for ATP6AP1_CPB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP6AP1

Q15904

CPB1

P15086

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 ATP6AP1_CPB1


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 ATP6AP1_CPB1


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
ATP6AP1ANG, HBA1, SYVN1, FBXO6, ATP6V1C1, HNRNPAB, NR1I2, MOV10, NXF1, ATP6AP2, PICK1, ERBB2, TCTN2, TCTN3, EVC2, TMEM17, TMEM216, TMEM67, DBN1, RAB7A, MYEF2, GOLT1B, RHOU, CTDNEP1, ATP6V0A2, KIAA2013, ATP6V0D1, PTPROCPB1


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 ATP6AP1_CPB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCPB1P15086DB04272Citric AcidCarboxypeptidase Bsmall moleculeapproved|nutraceutical|vet_approved

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RelatedDiseases for ATP6AP1_CPB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP6AP1C0024301Lymphoma, Follicular1CTD_human