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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: 3423

FusionGeneSummary for ATP6AP1_CCT5

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6AP1_CCT5
Fusion gene ID: 3423
HgeneTgene
Gene symbol

ATP6AP1

CCT5

Gene ID

537

22948

Gene nameATPase H+ transporting accessory protein 1chaperonin containing TCP1 subunit 5
Synonyms16A|ATP6IP1|ATP6S1|Ac45|CF2|VATPS1|XAP-3|XAP3CCT-epsilon|CCTE|HEL-S-69|PNAS-102|TCP-1-epsilon
Cytomap

Xq28

5p15.2

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-AT-complex protein 1 subunit epsilonchaperonin containing TCP1, subunit 5 (epsilon)epididymis secretory protein Li 69
Modification date2018051920180523
UniProtAcc

Q15904

P48643

Ensembl transtripts involved in fusion geneENST00000369762, ENST00000484908, 
ENST00000280326, ENST00000503026, 
ENST00000515390, ENST00000515676, 
ENST00000506600, 
Fusion gene scores* DoF score4 X 2 X 3=2449 X 6 X 16=4704
# samples 453
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(53/4704*10)=-3.1498237953858
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP6AP1 [Title/Abstract] AND CCT5 [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
TCGARVPRADTCGA-V1-A9O5-01AATP6AP1chrX

153664862

+CCT5chr5

10250033

+
* 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-shitENST00000369762ENST00000280326ATP6AP1chrX

153664862

+CCT5chr5

10250033

+
5CDS-intronENST00000369762ENST00000503026ATP6AP1chrX

153664862

+CCT5chr5

10250033

+
5CDS-intronENST00000369762ENST00000515390ATP6AP1chrX

153664862

+CCT5chr5

10250033

+
5CDS-intronENST00000369762ENST00000515676ATP6AP1chrX

153664862

+CCT5chr5

10250033

+
5CDS-intronENST00000369762ENST00000506600ATP6AP1chrX

153664862

+CCT5chr5

10250033

+
intron-3CDSENST00000484908ENST00000280326ATP6AP1chrX

153664862

+CCT5chr5

10250033

+
intron-intronENST00000484908ENST00000503026ATP6AP1chrX

153664862

+CCT5chr5

10250033

+
intron-intronENST00000484908ENST00000515390ATP6AP1chrX

153664862

+CCT5chr5

10250033

+
intron-intronENST00000484908ENST00000515676ATP6AP1chrX

153664862

+CCT5chr5

10250033

+
intron-intronENST00000484908ENST00000506600ATP6AP1chrX

153664862

+CCT5chr5

10250033

+

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FusionProtFeatures for ATP6AP1_CCT5


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

Q15904

CCT5

P48643

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}. Molecular chaperone; assists the folding of proteinsupon ATP hydrolysis. As part of the BBS/CCT complex may play arole in the assembly of BBSome, a complex involved in ciliogenesisregulating transports vesicles to the cilia. Known to play a role,in vitro, in the folding of actin and tubulin.{ECO:0000269|PubMed:20080638}.

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_CCT5


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_CCT5


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, PTPROCCT5XRN1, THEG, SSSCA1, HDAC3, ACTB, TBC1D17, IKBKAP, IMMT, TP53, PPP4C, CTTNBP2, MOB4, PPP2CA, STK24, STRN, STRN3, TRAF3IP3, PPP2CB, PPP2R2C, IGBP1, TCP1, ACTA2, ACTA1, GPN1, HNRNPH1, RPAP2, RPAP3, CDK9, RFWD2, SRRM2, SRRM1, WDR82, H2AFX, UBC, MYC, PPP2R2A, PPP2R2B, PPP2R2D, PPP2R4, AGO4, HDAC5, PCK1, VHL, SIRT7, FBXO25, CUL3, CUL4A, CDK2, GNB5, GNB1, RGS7, PDCL, GRB2, PACRG, CCT2, CCT3, CCT8, CCT6A, CCT4, CCT7, CCT6B, AHCYL1, IARS, TARS, PSMA6, PSMB1, VCP, SSR1, XPO1, SLU7, TXNL1, SRSF2, ATXN2, TRIM28, FN1, VCAM1, ATF2, PEX14, NOS2, FAM86B2, METTL21B, ITGA4, PAN2, HDAC6, FBXW4, TERT, FBXO6, CDK5, ILK, CDC20, LGALS3BP, NEDD1, TUBG1, HUWE1, FUS, CUL7, OBSL1, RNF2, SIRT6, IKBKE, IRAK1, SGK2, TSSK6, TYK2, WDR76, POC1A, PEX7, RPS6KB2, DCAF7, UNK, ACTR2, AHNAK, HSPE1, PIN4, STUB1, NTRK1, BTRC, B9D1, MKS1, CETN2, CDK1, DDB2, HDAC1, PDK3, NSMAF, NIPSNAP1, PRPF4, BUB3, WRAP53, RFWD3, KIF21A, SEH1L, KBTBD7, TUBA1C, ARMC6, GAN, CRY2, ALKBH3, MCM2, SNW1, CDC5L, TTC27, NLE1, CDC73, CRBN, PPM1J, KLHDC8A, DNAI2, HCFC2, WDR77, DCAF11, KDM4B, KLHL33, KLHDC2, TXNDC9, WDR86, TBL1Y, DCAF8, THOC3, WDTC1, GANAB, ODF1, DCAF5, SEC31B, TSSC1, WDR83, CYLD, WDR92, TRIM25, MCPH1, HEY1, BRCA1, YAP1


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_CCT5


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_CCT5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP6AP1C0024301Lymphoma, Follicular1CTD_human
TgeneCCT5C0019693HIV Infections1CTD_human
TgeneCCT5C1458155Mammary Neoplasms1CTD_human
TgeneCCT5C1850395Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive1CTD_human;ORPHANET;UNIPROT