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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: 5853

FusionGeneSummary for CCDC43_ATP11A

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC43_ATP11A
Fusion gene ID: 5853
HgeneTgene
Gene symbol

CCDC43

ATP11A

Gene ID

124808

23250

Gene namecoiled-coil domain containing 43ATPase phospholipid transporting 11A
Synonyms-ATPIH|ATPIS
Cytomap

17q21.31

13q34

Type of geneprotein-codingprotein-coding
Descriptioncoiled-coil domain-containing protein 43probable phospholipid-transporting ATPase IHATPase, class VI, type 11AP4-ATPase flippase complex alpha subunit ATP11Aphospholipid-translocating ATPasepotential phospholipid-transporting ATPase IH
Modification date2018051920180523
UniProtAcc

Q96MW1

P98196

Ensembl transtripts involved in fusion geneENST00000457422, ENST00000315286, 
ENST00000588210, 
ENST00000283558, 
ENST00000375630, ENST00000487903, 
ENST00000375645, ENST00000419448, 
Fusion gene scores* DoF score2 X 2 X 2=811 X 10 X 4=440
# samples 213
** MAII scorelog2(2/8*10)=1.32192809488736log2(13/440*10)=-1.7589919004962
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CCDC43 [Title/Abstract] AND ATP11A [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
TCGALDLUADTCGA-50-6593-01ACCDC43chr17

42766918

-ATP11Achr13

113371636

+
* 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-intronENST00000457422ENST00000283558CCDC43chr17

42766918

-ATP11Achr13

113371636

+
5CDS-intronENST00000457422ENST00000375630CCDC43chr17

42766918

-ATP11Achr13

113371636

+
5CDS-intronENST00000457422ENST00000487903CCDC43chr17

42766918

-ATP11Achr13

113371636

+
5CDS-intronENST00000457422ENST00000375645CCDC43chr17

42766918

-ATP11Achr13

113371636

+
5CDS-3UTRENST00000457422ENST00000419448CCDC43chr17

42766918

-ATP11Achr13

113371636

+
5CDS-intronENST00000315286ENST00000283558CCDC43chr17

42766918

-ATP11Achr13

113371636

+
5CDS-intronENST00000315286ENST00000375630CCDC43chr17

42766918

-ATP11Achr13

113371636

+
5CDS-intronENST00000315286ENST00000487903CCDC43chr17

42766918

-ATP11Achr13

113371636

+
5CDS-intronENST00000315286ENST00000375645CCDC43chr17

42766918

-ATP11Achr13

113371636

+
5CDS-3UTRENST00000315286ENST00000419448CCDC43chr17

42766918

-ATP11Achr13

113371636

+
5CDS-intronENST00000588210ENST00000283558CCDC43chr17

42766918

-ATP11Achr13

113371636

+
5CDS-intronENST00000588210ENST00000375630CCDC43chr17

42766918

-ATP11Achr13

113371636

+
5CDS-intronENST00000588210ENST00000487903CCDC43chr17

42766918

-ATP11Achr13

113371636

+
5CDS-intronENST00000588210ENST00000375645CCDC43chr17

42766918

-ATP11Achr13

113371636

+
5CDS-3UTRENST00000588210ENST00000419448CCDC43chr17

42766918

-ATP11Achr13

113371636

+

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FusionProtFeatures for CCDC43_ATP11A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CCDC43

Q96MW1

ATP11A

P98196

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). May be involved in the uptake offarnesyltransferase inhibitor drugs, such as lonafarnib.{ECO:0000269|PubMed:15860663, ECO:0000305}.

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 CCDC43_ATP11A


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 CCDC43_ATP11A


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
CCDC43TINF2, PPP2R1A, KLHL2, GOPC, SCML1, PNKP, EWSR1, CDH1ATP11ATMEM30A, NPDC1, PICK1, TRIM25


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 CCDC43_ATP11A


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 CCDC43_ATP11A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneATP11AC1800706Idiopathic Pulmonary Fibrosis1CTD_human;ORPHANET