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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: 3447

FusionGeneSummary for ATP6V0D1_CFDP1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6V0D1_CFDP1
Fusion gene ID: 3447
HgeneTgene
Gene symbol

ATP6V0D1

CFDP1

Gene ID

9114

10428

Gene nameATPase H+ transporting V0 subunit d1craniofacial development protein 1
SynonymsATP6D|ATP6DV|P39|VATX|VMA6|VPATPDBCNT|BUCENTAUR|CENP-29|CP27|SWC5|Yeti|p97
Cytomap

16q22.1

16q23.1

Type of geneprotein-codingprotein-coding
DescriptionV-type proton ATPase subunit d 132 kDa accessory proteinATPase, H+ transporting, lysosomal (vacuolar proton pump), member DATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1H(+)-transporting two-sector ATPase, subunit DV-ATPase 40 KDa accessory craniofacial development protein 1centromere protein 29phosphoprotein (Bucentaur)
Modification date2018052320180519
UniProtAcc

P61421

Q9UEE9

Ensembl transtripts involved in fusion geneENST00000290949, ENST00000540149, 
ENST00000602876, ENST00000567694, 
ENST00000283882, ENST00000564286, 
Fusion gene scores* DoF score6 X 4 X 3=7211 X 7 X 11=847
# samples 618
** MAII scorelog2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/847*10)=-2.23436506300252
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP6V0D1 [Title/Abstract] AND CFDP1 [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
TCGARVMESOTCGA-YS-AA4M-01AATP6V0D1chr16

67514860

-CFDP1chr16

75339080

-
* 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-shiftENST00000290949ENST00000283882ATP6V0D1chr16

67514860

-CFDP1chr16

75339080

-
5CDS-intronENST00000290949ENST00000564286ATP6V0D1chr16

67514860

-CFDP1chr16

75339080

-
Frame-shiftENST00000540149ENST00000283882ATP6V0D1chr16

67514860

-CFDP1chr16

75339080

-
5CDS-intronENST00000540149ENST00000564286ATP6V0D1chr16

67514860

-CFDP1chr16

75339080

-
intron-3CDSENST00000602876ENST00000283882ATP6V0D1chr16

67514860

-CFDP1chr16

75339080

-
intron-intronENST00000602876ENST00000564286ATP6V0D1chr16

67514860

-CFDP1chr16

75339080

-
intron-3CDSENST00000567694ENST00000283882ATP6V0D1chr16

67514860

-CFDP1chr16

75339080

-
intron-intronENST00000567694ENST00000564286ATP6V0D1chr16

67514860

-CFDP1chr16

75339080

-

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FusionProtFeatures for ATP6V0D1_CFDP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP6V0D1

P61421

CFDP1

Q9UEE9

Subunit of the integral membrane V0 complex of vacuolarATPase. Vacuolar ATPase is responsible for acidifying a variety ofintracellular compartments in eukaryotic cells, thus providingmost of the energy required for transport processes in thevacuolar system. May play a role in coupling of proton transportand ATP hydrolysis (By similarity). May play a role in ciliumbiogenesis through regulation of the transport and thelocalization of proteins to the cilium (By similarity). 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:0000250,ECO:0000269|PubMed:28296633}. May play a role during embryogenesis. {ECO:0000250}.

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 ATP6V0D1_CFDP1


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 ATP6V0D1_CFDP1


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
ATP6V0D1UBC, ATXN1, ATP6V1B1, ERC1, LIG4, RPA3, RPA2, RPA1, STAU1, MCAM, ATP6AP2, SERINC2, ATP1A1, ATP5A1, ATP5C1, ATP5O, ATP6V0A1, ATP1A2, ATP1A3, ATP1B3, ATP5B, ATP5D, ATP5F1, ATP6V1A, ATP6V1B2, ATP6V1D, ATP6V1H, EIF3B, GNB2, MTCH1, MTCH2, NDUFA2, NDUFB7, NDUFS1, NSF, RPL5, RPS16, RPS2, SLC25A4, SLC25A5, SLC25A6, VDAC1, VDAC2, VDAC3, YBX3, EIF3A, NDUFB8, NDUFS4, NDUFV1, PSMD3, RAB2A, RPN1, SSR1, UQCRH, CDK1, CLTC, PTPN1, RAB5C, TMPO, RAB7A, VAPA, GOLT1B, RFWD3, TMEM63B, THOC2, CHMP4B, MVD, ATP6V0A2, ATP6V0D2, LEPR, TUBA3C, TMEM199, SNX25, VMA21, ATP6V0C, SLC22A23, TCIRG1, UBB, SLC27A6, CCDC115, USP4, SNX19, FAM210B, SLC10A7, MID1IP1, DHCR24, PTGES2, INPPL1, B3GNT2, IKBIP, ATP6AP1, SLC27A2, CUL4A, KIAA1919, ATP6V1F, KIAA2013, LETM1, LPHN1, SCCPDH, RDH13, ENPP1, ACSL4, SDHA, LAMTOR2, SLC38A9CFDP1EWSR1, APP, DMAP1, SRCAP, SMAD3, TALDO1, HIST1H2BA, RUVBL1, RUVBL2, RBPJ, ID2


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 ATP6V0D1_CFDP1


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 ATP6V0D1_CFDP1


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