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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: 3422

FusionGeneSummary for ATP6AP1_ARFGEF2

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6AP1_ARFGEF2
Fusion gene ID: 3422
HgeneTgene
Gene symbol

ATP6AP1

ARFGEF2

Gene ID

537

10564

Gene nameATPase H+ transporting accessory protein 1ADP ribosylation factor guanine nucleotide exchange factor 2
Synonyms16A|ATP6IP1|ATP6S1|Ac45|CF2|VATPS1|XAP-3|XAP3BIG2|PVNH2|dJ1164I10.1
Cytomap

Xq28

20q13.13

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-Abrefeldin A-inhibited guanine nucleotide-exchange protein 2ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)brefeldin A-inhibited GEP 2
Modification date2018051920180523
UniProtAcc

Q15904

Q9Y6D5

Ensembl transtripts involved in fusion geneENST00000369762, ENST00000484908, 
ENST00000371917, ENST00000493140, 
Fusion gene scores* DoF score4 X 2 X 3=2437 X 5 X 14=2590
# samples 440
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(40/2590*10)=-2.69488019279919
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP6AP1 [Title/Abstract] AND ARFGEF2 [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
TgeneARFGEF2

GO:0001881

receptor recycling

16477018

TgeneARFGEF2

GO:0035556

intracellular signal transduction

12571360


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
TCGARVBLCATCGA-DK-A3X2-01AATP6AP1chrX

153664862

+ARFGEF2chr20

47615777

+
* 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
5CDS-intronENST00000369762ENST00000371917ATP6AP1chrX

153664862

+ARFGEF2chr20

47615777

+
5CDS-intronENST00000369762ENST00000493140ATP6AP1chrX

153664862

+ARFGEF2chr20

47615777

+
intron-intronENST00000484908ENST00000371917ATP6AP1chrX

153664862

+ARFGEF2chr20

47615777

+
intron-intronENST00000484908ENST00000493140ATP6AP1chrX

153664862

+ARFGEF2chr20

47615777

+

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FusionProtFeatures for ATP6AP1_ARFGEF2


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

Q15904

ARFGEF2

Q9Y6D5

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}. Promotes guanine-nucleotide exchange on ARF1 and ARF3and to a lower extent on ARF5 and ARF6. Promotes the activation ofARF1/ARF5/ARF6 through replacement of GDP with GTP. Involved inthe regulation of Golgi vesicular transport. Required for theintegrity of the endosomal compartment. Involved in traffickingfrom the trans-Golgi network (TGN) to endosomes and is requiredfor membrane association of the AP-1 complex and GGA1. Seems to beinvolved in recycling of the transferrin receptor from recyclingendosomes to the plasma membrane. Probably is involved in the exitof GABA(A) receptors from the endoplasmic reticulum. Involved inconstitutive release of tumor necrosis factor receptor 1 viaexosome-like vesicles; the function seems to involve PKA andspecifically PRKAR2B. Proposed to act as A kinase-anchoringprotein (AKAP) and may mediate crosstalk between Arf and PKApathways. {ECO:0000269|PubMed:12051703,ECO:0000269|PubMed:12571360, ECO:0000269|PubMed:15385626,ECO:0000269|PubMed:16477018, ECO:0000269|PubMed:17276987,ECO:0000269|PubMed:18625701, ECO:0000269|PubMed:20360857}.

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_ARFGEF2


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_ARFGEF2


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, PTPROARFGEF2FKBP2, PRKAR1A, PRKAR2A, ARFGEF1, MYC, VCP, PRPF40A, PNPLA2, CDC73, FLNC, NUP98, NUP88, PAF1, SPACA1, TMEM171, CSGALNACT1, DNAJB2, HLA-B, SDF4, CD244, SLAMF1, DTNBP1, HLA-E, LDLRAD4, ANKMY2, SNW1, FLNA, GYPB, LAMP3, FAM131B, MRAP2, CD79B, EDNRB, SIGLECL1, TMEM9B, MADCAM1, VASN, PDCD1, ICAM1, TRIM25, BRCA1


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_ARFGEF2


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 ATP6AP1_ARFGEF2


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