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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: 3510

FusionGeneSummary for ATP8B4_DPH6

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP8B4_DPH6
Fusion gene ID: 3510
HgeneTgene
Gene symbol

ATP8B4

DPH6

Gene ID

79895

89978

Gene nameATPase phospholipid transporting 8B4 (putative)diphthamine biosynthesis 6
SynonymsATPIMATPBD4
Cytomap

15q21.2

15q14

Type of geneprotein-codingprotein-coding
Descriptionprobable phospholipid-transporting ATPase IMATPase, class I, type 8B, member 4P4-ATPase flippase complex alpha subunit ATP8B4potential phospholipid-transporting ATPase IMdiphthine--ammonia ligaseATP binding domain 4ATP-binding domain-containing protein 4DPH6 homologdiphthamide synthasediphthamide synthetaseprotein DPH6 homolog
Modification date2018052320180523
UniProtAcc

Q8TF62

Q7L8W6

Ensembl transtripts involved in fusion geneENST00000284509, ENST00000559829, 
ENST00000558959, 
ENST00000560386, 
ENST00000256538, ENST00000440392, 
Fusion gene scores* DoF score7 X 5 X 4=1405 X 4 X 3=60
# samples 75
** MAII scorelog2(7/140*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP8B4 [Title/Abstract] AND DPH6 [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-C8-A1HI-01AATP8B4chr15

50330965

-DPH6chr15

35674117

-
* 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-5UTRENST00000284509ENST00000560386ATP8B4chr15

50330965

-DPH6chr15

35674117

-
5CDS-5UTRENST00000284509ENST00000256538ATP8B4chr15

50330965

-DPH6chr15

35674117

-
5CDS-intronENST00000284509ENST00000440392ATP8B4chr15

50330965

-DPH6chr15

35674117

-
5CDS-5UTRENST00000559829ENST00000560386ATP8B4chr15

50330965

-DPH6chr15

35674117

-
5CDS-5UTRENST00000559829ENST00000256538ATP8B4chr15

50330965

-DPH6chr15

35674117

-
5CDS-intronENST00000559829ENST00000440392ATP8B4chr15

50330965

-DPH6chr15

35674117

-
5UTR-5UTRENST00000558959ENST00000560386ATP8B4chr15

50330965

-DPH6chr15

35674117

-
5UTR-5UTRENST00000558959ENST00000256538ATP8B4chr15

50330965

-DPH6chr15

35674117

-
5UTR-intronENST00000558959ENST00000440392ATP8B4chr15

50330965

-DPH6chr15

35674117

-

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FusionProtFeatures for ATP8B4_DPH6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP8B4

Q8TF62

DPH6

Q7L8W6

Component of a P4-ATPase flippase complex whichcatalyzes 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). {ECO:0000305}. Amidase that catalyzes the last step of diphthamidebiosynthesis using ammonium and ATP. Diphthamide biosynthesisconsists in the conversion of an L-histidine residue in thetranslation elongation factor (EEF2) to diphthamide (Bysimilarity). {ECO:0000250, ECO:0000269|PubMed:23169644}.

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 ATP8B4_DPH6


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 ATP8B4_DPH6


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
ATP8B4DPH6ATP2B2, KIAA1919, SLC18A1, ADAMTS4, S100A8, GRPR, PTGIR, TMCO3, C5AR2, SMARCB1


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 ATP8B4_DPH6


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 ATP8B4_DPH6


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