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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:ATP11B-PLSCR1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ATP11B-PLSCR1
FusionPDB ID: 7740
FusionGDB2.0 ID: 7740
HgeneTgene
Gene symbol

ATP11B

PLSCR1

Gene ID

23200

5359

Gene nameATPase phospholipid transporting 11B (putative)phospholipid scramblase 1
SynonymsATPIF|ATPIRMMTRA1B
Cytomap

3q26.33

3q24

Type of geneprotein-codingprotein-coding
Descriptionprobable phospholipid-transporting ATPase IFATPase IRATPase, class VI, type 11BP4-ATPase flippase complex alpha subunit ATP11Btruncated ATPase 11B proteinphospholipid scramblase 1PL scramblase 1ca(2+)-dependent phospholipid scramblase 1erythrocyte phospholipid scramblase
Modification date2020031320200313
UniProtAcc

Q9Y2G3

.
Ensembl transtripts involved in fusion geneENST idsENST00000323116, ENST00000493826, 
ENST00000482794, 		ENST00000448205, 
ENST00000448787, ENST00000487389, 
ENST00000484560, ENST00000342435, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score20 X 15 X 10=300011 X 9 X 2=198
# samples 2211
** MAII scorelog2(22/3000*10)=-3.76938707185858
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/198*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ATP11B [Title/Abstract] AND PLSCR1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ATP11B(182511574)-PLSCR1(146243434), # samples:1
Anticipated loss of major functional domain due to fusion event.ATP11B-PLSCR1 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.
ATP11B-PLSCR1 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.
ATP11B-PLSCR1 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.
ATP11B-PLSCR1 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
TgenePLSCR1

GO:0006915

apoptotic process

10770950

TgenePLSCR1

GO:0017121

phospholipid scrambling

9218461|10770950|18629440

TgenePLSCR1

GO:0045944

positive regulation of transcription by RNA polymerase II

16091359

TgenePLSCR1

GO:2000373

positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity

17567603


check buttonFusion gene breakpoints across ATP11B (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 PLSCR1 (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
ChimerDB4STADTCGA-BR-7901ATP11Bchr3

182511574

+PLSCR1chr3

146243434

-


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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)
ENST00000323116ATP11Bchr3182511574+ENST00000342435PLSCR1chr3146243434-1797287206931241
ENST00000493826ATP11Bchr3182511574+ENST00000342435PLSCR1chr3146243434-1794284203928241

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
ENST00000323116ENST00000342435ATP11Bchr3182511574+PLSCR1chr3146243434-0.000142410.99985754
ENST00000493826ENST00000342435ATP11Bchr3182511574+PLSCR1chr3146243434-0.0001539920.999846

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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

>7740_7740_1_ATP11B-PLSCR1_ATP11B_chr3_182511574_ENST00000323116_PLSCR1_chr3_146243434_ENST00000342435_length(amino acids)=241AA_BP=44
MQPRGPRAPRDPDGDDGGMWRWIRQQLIDQILIHQQIELLEVLTGFETNNKYEIKNSFGQRVYFAAEDTDCCTRNCCGPSRPFTLRIIDN
MGQEVITLERPLRCSSCCCPCCLQEIEIQAPPGVPIGYVIQTWHPCLPKFTIQNEKREDVLKISGPCVVCSCCGDVDFEIKSLDEQCVVG

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

>7740_7740_2_ATP11B-PLSCR1_ATP11B_chr3_182511574_ENST00000493826_PLSCR1_chr3_146243434_ENST00000342435_length(amino acids)=241AA_BP=44
MQPRGPRAPRDPDGDDGGMWRWIRQQLIDQILIHQQIELLEVLTGFETNNKYEIKNSFGQRVYFAAEDTDCCTRNCCGPSRPFTLRIIDN
MGQEVITLERPLRCSSCCCPCCLQEIEIQAPPGVPIGYVIQTWHPCLPKFTIQNEKREDVLKISGPCVVCSCCGDVDFEIKSLDEQCVVG

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

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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/chr3:182511574/chr3:146243434)
- 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
ATP11B

Q9Y2G3

.
FUNCTION: Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids, phosphatidylserines (PS) and phosphatidylethanolamines (PE), from the outer to the inner leaflet of intracellular membranes (PubMed:30018401). May contribute to the maintenance of membrane lipid asymmetry in endosome compartment (PubMed:30018401). {ECO:0000269|PubMed:30018401}.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.

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
TgenePLSCR1chr3:182511574chr3:146243434ENST0000034243539181_189104.0319.0Compositional biasNote=Cys-rich
TgenePLSCR1chr3:182511574chr3:146243434ENST0000034243539257_266104.0319.0MotifNuclear localization signal
TgenePLSCR1chr3:182511574chr3:146243434ENST0000034243539306_318104.0319.0Topological domainExtracellular
TgenePLSCR1chr3:182511574chr3:146243434ENST0000034243539289_305104.0319.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+1301021_10259.01178.0Topological domainCytoplasmic
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+1301048_10659.01178.0Topological domainExtracellular
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+130105_2899.01178.0Topological domainCytoplasmic
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+1301091_11779.01178.0Topological domainCytoplasmic
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+1301_559.01178.0Topological domainCytoplasmic
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+130312_3419.01178.0Topological domainExtracellular
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+130360_8769.01178.0Topological domainCytoplasmic
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+13078_829.01178.0Topological domainExtracellular
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+130899_9109.01178.0Topological domainExtracellular
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+130931_9609.01178.0Topological domainCytoplasmic
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+130983_9979.01178.0Topological domainExtracellular
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+161021_10259.0196.0Topological domainCytoplasmic
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+161048_10659.0196.0Topological domainExtracellular
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+16105_2899.0196.0Topological domainCytoplasmic
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+161091_11779.0196.0Topological domainCytoplasmic
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+161_559.0196.0Topological domainCytoplasmic
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+16312_3419.0196.0Topological domainExtracellular
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+16360_8769.0196.0Topological domainCytoplasmic
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+1678_829.0196.0Topological domainExtracellular
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+16899_9109.0196.0Topological domainExtracellular
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+16931_9609.0196.0Topological domainCytoplasmic
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+16983_9979.0196.0Topological domainExtracellular
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+1301026_10479.01178.0TransmembraneHelical
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+1301066_10909.01178.0TransmembraneHelical
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+130290_3119.01178.0TransmembraneHelical
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+130342_3599.01178.0TransmembraneHelical
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+13056_779.01178.0TransmembraneHelical
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+13083_1049.01178.0TransmembraneHelical
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+130877_8989.01178.0TransmembraneHelical
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+130911_9309.01178.0TransmembraneHelical
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+130961_9829.01178.0TransmembraneHelical
HgeneATP11Bchr3:182511574chr3:146243434ENST00000323116+130998_10209.01178.0TransmembraneHelical
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+161026_10479.0196.0TransmembraneHelical
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+161066_10909.0196.0TransmembraneHelical
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+16290_3119.0196.0TransmembraneHelical
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+16342_3599.0196.0TransmembraneHelical
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+1656_779.0196.0TransmembraneHelical
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+1683_1049.0196.0TransmembraneHelical
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+16877_8989.0196.0TransmembraneHelical
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+16911_9309.0196.0TransmembraneHelical
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+16961_9829.0196.0TransmembraneHelical
HgeneATP11Bchr3:182511574chr3:146243434ENST00000493826+16998_10209.0196.0TransmembraneHelical
TgenePLSCR1chr3:182511574chr3:146243434ENST000003424353918_26104.0319.0MotifSH3-binding 1
TgenePLSCR1chr3:182511574chr3:146243434ENST000003424353922_25104.0319.0MotifPPXY motif 1
TgenePLSCR1chr3:182511574chr3:146243434ENST000003424353933_36104.0319.0MotifPPXY motif 2
TgenePLSCR1chr3:182511574chr3:146243434ENST000003424353942_50104.0319.0MotifSH3-binding 2
TgenePLSCR1chr3:182511574chr3:146243434ENST000003424353984_92104.0319.0MotifSH3-binding 3
TgenePLSCR1chr3:182511574chr3:146243434ENST00000342435391_84104.0319.0RegionProline-rich domain (PRD)
TgenePLSCR1chr3:182511574chr3:146243434ENST00000342435391_288104.0319.0Topological domainCytoplasmic


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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
ATP11B
PLSCR1


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
TgenePLSCR1chr3:182511574chr3:146243434ENST000003424353999_290104.0319.0hepatitis C virus E2 glycoprotein


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Related Drugs to ATP11B-PLSCR1


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 ATP11B-PLSCR1


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