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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:RORA-ATP8B4

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: RORA-ATP8B4
FusionPDB ID: 75387
FusionGDB2.0 ID: 75387
HgeneTgene
Gene symbol

RORA

ATP8B4

Gene ID

6095

79895

Gene nameRAR related orphan receptor AATPase phospholipid transporting 8B4 (putative)
SynonymsIDDECA|NR1F1|ROR1|ROR2|ROR3|RZR-ALPHA|RZRAATPIM
Cytomap

15q22.2

15q21.2

Type of geneprotein-codingprotein-coding
Descriptionnuclear receptor ROR-alphaROR-alphanuclear receptor RZR-alphanuclear receptor subfamily 1 group F member 1retinoic acid receptor-related orphan receptor alpharetinoid-related orphan receptor alphathyroid hormone nuclear receptor alpha variant 4tranprobable phospholipid-transporting ATPase IMATPase, class I, type 8B, member 4P4-ATPase flippase complex alpha subunit ATP8B4potential phospholipid-transporting ATPase IM
Modification date2020032220200313
UniProtAcc.

Q8TF62

Ensembl transtripts involved in fusion geneENST idsENST00000449337, ENST00000261523, 
ENST00000309157, ENST00000335670, 
ENST00000560004, 		ENST00000558959, 
ENST00000284509, ENST00000559829, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score19 X 18 X 13=444610 X 10 X 6=600
# samples 2511
** MAII scorelog2(25/4446*10)=-4.1525079483649
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/600*10)=-2.44745897697122
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: RORA [Title/Abstract] AND ATP8B4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)RORA(60884585)-ATP8B4(50158681), # samples:1
Anticipated loss of major functional domain due to fusion event.RORA-ATP8B4 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
RORA-ATP8B4 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneRORA

GO:0006355

regulation of transcription, DNA-templated

9328355

HgeneRORA

GO:0030522

intracellular receptor signaling pathway

19965867

HgeneRORA

GO:0036315

cellular response to sterol

19965867

HgeneRORA

GO:0045893

positive regulation of transcription, DNA-templated

7926749

HgeneRORA

GO:0045944

positive regulation of transcription by RNA polymerase II

17545671|19955433


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

check buttonFusion gene breakpoints across ATP8B4 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4Non-Cancer91NRORAchr15

60884585

-ATP8B4chr15

50158681

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000449337RORAchr1560884585-ENST00000284509ATP8B4chr1550158681-2663155161706181
ENST00000449337RORAchr1560884585-ENST00000559829ATP8B4chr1550158681-1901155161706181

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
ENST00000449337ENST00000284509RORAchr1560884585-ATP8B4chr1550158681-0.131072070.86892796
ENST00000449337ENST00000559829RORAchr1560884585-ATP8B4chr1550158681-0.1052889150.8947111

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>75387_75387_1_RORA-ATP8B4_RORA_chr15_60884585_ENST00000449337_ATP8B4_chr15_50158681_ENST00000284509_length(amino acids)=181AA_BP=
MDTSYWTFINHVFIWGSIAIYFSILFTMHSNGIFGIFPNQFPFVGNARHSLTQKCIWLVILLTTVASVMPVVAFRFLKVDLYPTLSDQIR
RWQKAQKKARPPSSRRPRTRRSSSRRSGYAFAHQEGYGELITSGKNMRAKNPPPTSGLEKTHYNSTSWIENLCKKTTDTVSSFSQDKTVK

--------------------------------------------------------------

>75387_75387_2_RORA-ATP8B4_RORA_chr15_60884585_ENST00000449337_ATP8B4_chr15_50158681_ENST00000559829_length(amino acids)=181AA_BP=
MDTSYWTFINHVFIWGSIAIYFSILFTMHSNGIFGIFPNQFPFVGNARHSLTQKCIWLVILLTTVASVMPVVAFRFLKVDLYPTLSDQIR
RWQKAQKKARPPSSRRPRTRRSSSRRSGYAFAHQEGYGELITSGKNMRAKNPPPTSGLEKTHYNSTSWIENLCKKTTDTVSSFSQDKTVK

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr15:60884585/chr15:50158681)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

Q8TF62

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: 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. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). {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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneATP8B4chr15:60884585chr15:50158681ENST0000028450924281014_10191009.01193.0Topological domainCytoplasmic
TgeneATP8B4chr15:60884585chr15:50158681ENST0000028450924281041_10601009.01193.0Topological domainExoplasmic loop
TgeneATP8B4chr15:60884585chr15:50158681ENST0000028450924281086_11921009.01193.0Topological domainCytoplasmic
TgeneATP8B4chr15:60884585chr15:50158681ENST0000055982924281014_10191009.01193.0Topological domainCytoplasmic
TgeneATP8B4chr15:60884585chr15:50158681ENST0000055982924281041_10601009.01193.0Topological domainExoplasmic loop
TgeneATP8B4chr15:60884585chr15:50158681ENST0000055982924281086_11921009.01193.0Topological domainCytoplasmic
TgeneATP8B4chr15:60884585chr15:50158681ENST0000028450924281020_10401009.01193.0TransmembraneHelical
TgeneATP8B4chr15:60884585chr15:50158681ENST0000028450924281061_10851009.01193.0TransmembraneHelical
TgeneATP8B4chr15:60884585chr15:50158681ENST0000055982924281020_10401009.01193.0TransmembraneHelical
TgeneATP8B4chr15:60884585chr15:50158681ENST0000055982924281061_10851009.01193.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRORAchr15:60884585chr15:50158681ENST00000261523-112166_1690557.0Compositional biasNote=Poly-Gln
HgeneRORAchr15:60884585chr15:50158681ENST00000309157-111166_1690549.0Compositional biasNote=Poly-Gln
HgeneRORAchr15:60884585chr15:50158681ENST00000335670-111166_1690524.0Compositional biasNote=Poly-Gln
HgeneRORAchr15:60884585chr15:50158681ENST00000449337-110166_16910.333333333333334469.0Compositional biasNote=Poly-Gln
HgeneRORAchr15:60884585chr15:50158681ENST00000261523-11273_1380557.0DNA bindingNuclear receptor
HgeneRORAchr15:60884585chr15:50158681ENST00000309157-11173_1380549.0DNA bindingNuclear receptor
HgeneRORAchr15:60884585chr15:50158681ENST00000335670-11173_1380524.0DNA bindingNuclear receptor
HgeneRORAchr15:60884585chr15:50158681ENST00000449337-11073_13810.333333333333334469.0DNA bindingNuclear receptor
HgeneRORAchr15:60884585chr15:50158681ENST00000261523-112272_5100557.0DomainNR LBD
HgeneRORAchr15:60884585chr15:50158681ENST00000309157-111272_5100549.0DomainNR LBD
HgeneRORAchr15:60884585chr15:50158681ENST00000335670-111272_5100524.0DomainNR LBD
HgeneRORAchr15:60884585chr15:50158681ENST00000449337-110272_51010.333333333333334469.0DomainNR LBD
HgeneRORAchr15:60884585chr15:50158681ENST00000261523-112506_5230557.0MotifNote=AF-2
HgeneRORAchr15:60884585chr15:50158681ENST00000309157-111506_5230549.0MotifNote=AF-2
HgeneRORAchr15:60884585chr15:50158681ENST00000335670-111506_5230524.0MotifNote=AF-2
HgeneRORAchr15:60884585chr15:50158681ENST00000449337-110506_52310.333333333333334469.0MotifNote=AF-2
HgeneRORAchr15:60884585chr15:50158681ENST00000261523-112109_1330557.0Zinc fingerNR C4-type
HgeneRORAchr15:60884585chr15:50158681ENST00000261523-11273_930557.0Zinc fingerNR C4-type
HgeneRORAchr15:60884585chr15:50158681ENST00000309157-111109_1330549.0Zinc fingerNR C4-type
HgeneRORAchr15:60884585chr15:50158681ENST00000309157-11173_930549.0Zinc fingerNR C4-type
HgeneRORAchr15:60884585chr15:50158681ENST00000335670-111109_1330524.0Zinc fingerNR C4-type
HgeneRORAchr15:60884585chr15:50158681ENST00000335670-11173_930524.0Zinc fingerNR C4-type
HgeneRORAchr15:60884585chr15:50158681ENST00000449337-110109_13310.333333333333334469.0Zinc fingerNR C4-type
HgeneRORAchr15:60884585chr15:50158681ENST00000449337-11073_9310.333333333333334469.0Zinc fingerNR C4-type
TgeneATP8B4chr15:60884585chr15:50158681ENST0000028450924281_441009.01193.0Topological domainCytoplasmic
TgeneATP8B4chr15:60884585chr15:50158681ENST000002845092428299_3271009.01193.0Topological domainExoplasmic loop
TgeneATP8B4chr15:60884585chr15:50158681ENST000002845092428350_8711009.01193.0Topological domainCytoplasmic
TgeneATP8B4chr15:60884585chr15:50158681ENST00000284509242867_721009.01193.0Topological domainExoplasmic loop
TgeneATP8B4chr15:60884585chr15:50158681ENST000002845092428893_9041009.01193.0Topological domainExoplasmic loop
TgeneATP8B4chr15:60884585chr15:50158681ENST000002845092428925_9541009.01193.0Topological domainCytoplasmic
TgeneATP8B4chr15:60884585chr15:50158681ENST00000284509242893_2761009.01193.0Topological domainCytoplasmic
TgeneATP8B4chr15:60884585chr15:50158681ENST000002845092428977_9901009.01193.0Topological domainExoplasmic loop
TgeneATP8B4chr15:60884585chr15:50158681ENST0000055982924281_441009.01193.0Topological domainCytoplasmic
TgeneATP8B4chr15:60884585chr15:50158681ENST000005598292428299_3271009.01193.0Topological domainExoplasmic loop
TgeneATP8B4chr15:60884585chr15:50158681ENST000005598292428350_8711009.01193.0Topological domainCytoplasmic
TgeneATP8B4chr15:60884585chr15:50158681ENST00000559829242867_721009.01193.0Topological domainExoplasmic loop
TgeneATP8B4chr15:60884585chr15:50158681ENST000005598292428893_9041009.01193.0Topological domainExoplasmic loop
TgeneATP8B4chr15:60884585chr15:50158681ENST000005598292428925_9541009.01193.0Topological domainCytoplasmic
TgeneATP8B4chr15:60884585chr15:50158681ENST00000559829242893_2761009.01193.0Topological domainCytoplasmic
TgeneATP8B4chr15:60884585chr15:50158681ENST000005598292428977_9901009.01193.0Topological domainExoplasmic loop
TgeneATP8B4chr15:60884585chr15:50158681ENST000002845092428277_2981009.01193.0TransmembraneHelical
TgeneATP8B4chr15:60884585chr15:50158681ENST000002845092428328_3491009.01193.0TransmembraneHelical
TgeneATP8B4chr15:60884585chr15:50158681ENST00000284509242845_661009.01193.0TransmembraneHelical
TgeneATP8B4chr15:60884585chr15:50158681ENST00000284509242873_921009.01193.0TransmembraneHelical
TgeneATP8B4chr15:60884585chr15:50158681ENST000002845092428872_8921009.01193.0TransmembraneHelical
TgeneATP8B4chr15:60884585chr15:50158681ENST000002845092428905_9241009.01193.0TransmembraneHelical
TgeneATP8B4chr15:60884585chr15:50158681ENST000002845092428955_9761009.01193.0TransmembraneHelical
TgeneATP8B4chr15:60884585chr15:50158681ENST000002845092428991_10131009.01193.0TransmembraneHelical
TgeneATP8B4chr15:60884585chr15:50158681ENST000005598292428277_2981009.01193.0TransmembraneHelical
TgeneATP8B4chr15:60884585chr15:50158681ENST000005598292428328_3491009.01193.0TransmembraneHelical
TgeneATP8B4chr15:60884585chr15:50158681ENST00000559829242845_661009.01193.0TransmembraneHelical
TgeneATP8B4chr15:60884585chr15:50158681ENST00000559829242873_921009.01193.0TransmembraneHelical
TgeneATP8B4chr15:60884585chr15:50158681ENST000005598292428872_8921009.01193.0TransmembraneHelical
TgeneATP8B4chr15:60884585chr15:50158681ENST000005598292428905_9241009.01193.0TransmembraneHelical
TgeneATP8B4chr15:60884585chr15:50158681ENST000005598292428955_9761009.01193.0TransmembraneHelical
TgeneATP8B4chr15:60884585chr15:50158681ENST000005598292428991_10131009.01193.0TransmembraneHelical


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
RORA
ATP8B4


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to RORA-ATP8B4


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to RORA-ATP8B4


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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