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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ATP8A1-EZH2 (FusionGDB2 ID:8311)

Fusion Gene Summary for ATP8A1-EZH2

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP8A1-EZH2
Fusion gene ID: 8311
HgeneTgene
Gene symbol

ATP8A1

EZH2

Gene ID

10396

2146

Gene nameATPase phospholipid transporting 8A1enhancer of zeste 2 polycomb repressive complex 2 subunit
SynonymsATPASEII|ATPIA|ATPP2ENX-1|ENX1|EZH2b|KMT6|KMT6A|WVS|WVS2
Cytomap

4p13

7q36.1

Type of geneprotein-codingprotein-coding
Descriptionphospholipid-transporting ATPase IAATPase IIATPase class I type 8A member 1ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1P4-ATPase flippase complex alpha subunit ATP8A1aminophospholipid translocasechromaffin granule ATPase histone-lysine N-methyltransferase EZH2enhancer of zeste homolog 2lysine N-methyltransferase 6
Modification date2020032920200329
UniProtAcc

Q9Y2Q0

Q15910

Ensembl transtripts involved in fusion geneENST00000381668, ENST00000264449, 
ENST00000510289, 		ENST00000478654, 
ENST00000460911, ENST00000350995, 
ENST00000320356, ENST00000541220, 
ENST00000476773, ENST00000483967, 
ENST00000536783, 
Fusion gene scores* DoF score9 X 13 X 7=81910 X 7 X 5=350
# samples 139
** MAII scorelog2(13/819*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/350*10)=-1.95935801550265
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP8A1 [Title/Abstract] AND EZH2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP8A1(42642175)-EZH2(148526928), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneEZH2

GO:0000122

negative regulation of transcription by RNA polymerase II

20154697

TgeneEZH2

GO:0010718

positive regulation of epithelial to mesenchymal transition

20154697

TgeneEZH2

GO:0043406

positive regulation of MAP kinase activity

20154697

TgeneEZH2

GO:0043547

positive regulation of GTPase activity

20154697

TgeneEZH2

GO:0045814

negative regulation of gene expression, epigenetic

20154697

TgeneEZH2

GO:0070734

histone H3-K27 methylation

24474760

TgeneEZH2

GO:0071902

positive regulation of protein serine/threonine kinase activity

20154697


check buttonFusion gene breakpoints across ATP8A1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across EZH2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AU52965ATP8A1chr4

42642175

+EZH2chr7

148526928

-


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Fusion Gene ORF analysis for ATP8A1-EZH2

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
intron-3CDSENST00000381668ENST00000478654ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000381668ENST00000460911ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000381668ENST00000350995ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000381668ENST00000320356ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000381668ENST00000541220ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000381668ENST00000476773ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000381668ENST00000483967ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000381668ENST00000536783ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000264449ENST00000478654ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000264449ENST00000460911ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000264449ENST00000350995ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000264449ENST00000320356ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000264449ENST00000541220ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000264449ENST00000476773ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000264449ENST00000483967ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000264449ENST00000536783ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000510289ENST00000478654ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000510289ENST00000460911ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000510289ENST00000350995ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000510289ENST00000320356ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000510289ENST00000541220ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000510289ENST00000476773ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000510289ENST00000483967ATP8A1chr4

42642175

+EZH2chr7

148526928

-
intron-3CDSENST00000510289ENST00000536783ATP8A1chr4

42642175

+EZH2chr7

148526928

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for ATP8A1-EZH2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for ATP8A1-EZH2


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP8A1

Q9Y2Q0

EZH2

Q15910

FUNCTION: Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids (PubMed:31416931). Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. In vitro, its ATPase activity is selectively and stereospecifically stimulated by phosphatidylserine (PS) (PubMed:31416931). The flippase complex ATP8A1:TMEM30A seems to play a role in regulation of cell migration probably involving flippase-mediated translocation of phosphatidylethanolamine (PE) at the plasma membrane (By similarity). Acts as aminophospholipid translocase at the plasma membrane in neuronal cells (By similarity). {ECO:0000250|UniProtKB:P70704, ECO:0000269|PubMed:31416931}.FUNCTION: Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Displays a preference for substrates with less methylation, loses activity when progressively more methyl groups are incorporated into H3K27, H3K27me0 > H3K27me1 > H3K27me2 (PubMed:22323599, PubMed:30923826). Compared to EZH1-containing complexes, it is more abundant in embryonic stem cells and plays a major role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1, CDKN2A and retinoic acid target genes. EZH2 can also methylate non-histone proteins such as the transcription factor GATA4 and the nuclear receptor RORA. Regulates the circadian clock via histone methylation at the promoter of the circadian genes. Essential for the CRY1/2-mediated repression of the transcriptional activation of PER1/2 by the CLOCK-ARNTL/BMAL1 heterodimer; involved in the di and trimethylation of 'Lys-27' of histone H3 on PER1/2 promoters which is necessary for the CRY1/2 proteins to inhibit transcription. {ECO:0000269|PubMed:14532106, ECO:0000269|PubMed:15225548, ECO:0000269|PubMed:15231737, ECO:0000269|PubMed:15385962, ECO:0000269|PubMed:16179254, ECO:0000269|PubMed:16357870, ECO:0000269|PubMed:16618801, ECO:0000269|PubMed:16717091, ECO:0000269|PubMed:16936726, ECO:0000269|PubMed:17210787, ECO:0000269|PubMed:17344414, ECO:0000269|PubMed:18285464, ECO:0000269|PubMed:19026781, ECO:0000269|PubMed:20935635, ECO:0000269|PubMed:22323599, ECO:0000269|PubMed:23063525, ECO:0000269|PubMed:24474760, ECO:0000269|PubMed:30923826}.

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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Fusion Gene Sequence for ATP8A1-EZH2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for ATP8A1-EZH2


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


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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Related Drugs for ATP8A1-EZH2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneEZH2Q15910DB12887TazemetostatInhibitorSmall moleculeApproved|Investigational
TgeneEZH2Q15910DB12887TazemetostatInhibitorSmall moleculeApproved|Investigational

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Related Diseases for ATP8A1-EZH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEZH2C0265210Weaver syndrome6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneEZH2C0033578Prostatic Neoplasms3CTD_human
TgeneEZH2C0376358Malignant neoplasm of prostate3CTD_human
TgeneEZH2C0001815Primary Myelofibrosis1CTD_human
TgeneEZH2C0006142Malignant neoplasm of breast1CTD_human
TgeneEZH2C0007621Neoplastic Cell Transformation1CTD_human
TgeneEZH2C0010278Craniosynostosis1CTD_human
TgeneEZH2C0014170Endometrial Neoplasms1CTD_human
TgeneEZH2C0024301Lymphoma, Follicular1CGI;CTD_human
TgeneEZH2C0029463Osteosarcoma1CTD_human
TgeneEZH2C0030044Acrocephaly1CTD_human
TgeneEZH2C0043094Weight Gain1CTD_human
TgeneEZH2C0079744Diffuse Large B-Cell Lymphoma1CGI;CTD_human;UNIPROT
TgeneEZH2C0079745Lymphoma, Large-Cell, Follicular1CTD_human
TgeneEZH2C0079758Lymphoma, Mixed-Cell, Follicular1CTD_human
TgeneEZH2C0079765Lymphoma, Small Cleaved-Cell, Follicular1CTD_human
TgeneEZH2C0221356Brachycephaly1CTD_human
TgeneEZH2C0265534Scaphycephaly1CTD_human
TgeneEZH2C0265535Trigonocephaly1CTD_human
TgeneEZH2C0333704Chromosome Breaks1CTD_human
TgeneEZH2C0349639Juvenile Myelomonocytic Leukemia1CTD_human
TgeneEZH2C0376628Chromosome Breakage1CTD_human
TgeneEZH2C0476089Endometrial Carcinoma1CTD_human
TgeneEZH2C0678222Breast Carcinoma1CTD_human
TgeneEZH2C0749794Upper Extremity Deformities, Congenital1CTD_human
TgeneEZH2C1257931Mammary Neoplasms, Human1CTD_human
TgeneEZH2C1301355Myelodysplastic-Myeloproliferative Diseases1CTD_human
TgeneEZH2C1458155Mammary Neoplasms1CTD_human
TgeneEZH2C1833340Synostotic Posterior Plagiocephaly1CTD_human
TgeneEZH2C1860789Leukemia, Megakaryoblastic, of Down Syndrome1CTD_human
TgeneEZH2C1860819Metopic synostosis1CTD_human
TgeneEZH2C1956130Lymphoma, Follicular, Grade 11CTD_human
TgeneEZH2C1956131Lymphoma, Follicular, Grade 31CTD_human
TgeneEZH2C1956132Lymphoma, Follicular, Grade 21CTD_human
TgeneEZH2C2239176Liver carcinoma1CTD_human
TgeneEZH2C2713368Hematopoetic Myelodysplasia1CTD_human
TgeneEZH2C2931150Synostotic Anterior Plagiocephaly1CTD_human
TgeneEZH2C3463824MYELODYSPLASTIC SYNDROME1CTD_human
TgeneEZH2C4551902Craniosynostosis, Type 11CTD_human
TgeneEZH2C4704874Mammary Carcinoma, Human1CTD_human