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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:ATP11A-F7 (FusionGDB2 ID:HG23250TG2155)

Fusion Gene Summary for ATP11A-F7

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP11A-F7
Fusion gene ID: hg23250tg2155
HgeneTgene
Gene symbol

ATP11A

F7

Gene ID

23250

2155

Gene nameATPase phospholipid transporting 11Acoagulation factor VII
SynonymsATPIH|ATPISSPCA
Cytomap('ATP11A')('F7')

13q34

13q34

Type of geneprotein-codingprotein-coding
Descriptionprobable phospholipid-transporting ATPase IHATPase, class VI, type 11AP4-ATPase flippase complex alpha subunit ATP11Aphospholipid-translocating ATPasepotential phospholipid-transporting ATPase IHcoagulation factor VIIFVII coagulation proteincoagulation factor VII (serum prothrombin conversion accelerator)eptacog alfaproconvertin
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000283558, ENST00000375630, 
ENST00000375645, ENST00000487903, 
ENST00000419448, 
Fusion gene scores* DoF score20 X 11 X 16=35204 X 4 X 4=64
# samples 315
** MAII scorelog2(31/3520*10)=-3.50523530825042
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/64*10)=-0.356143810225275
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP11A [Title/Abstract] AND F7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP11A(113439571)-F7(113768161), # samples:2
Anticipated loss of major functional domain due to fusion event.ATP11A-F7 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ATP11A-F7 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ATP11A-F7 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ATP11A-F7 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
ATP11A-F7 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted 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
TgeneF7

GO:0002690

positive regulation of leukocyte chemotaxis

17991872

TgeneF7

GO:0007596

blood coagulation

8632006|24998411

TgeneF7

GO:0010641

positive regulation of platelet-derived growth factor receptor signaling pathway

17991872

TgeneF7

GO:0016485

protein processing

24998411

TgeneF7

GO:0050927

positive regulation of positive chemotaxis

17991872

TgeneF7

GO:0051897

positive regulation of protein kinase B signaling

18612547



check button Fusion gene information
* 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
ChimerDB4LUSCTCGA-56-7823-01BATP11Achr13

113439571

+F7chr13

113768161

+
ChimerDB4LUSCTCGA-56-7823ATP11Achr13

113439571

+F7chr13

113765004

+
ChimerDB4LUSCTCGA-56-7823ATP11Achr13

113439571

+F7chr13

113768066

+
ChimerDB4LUSCTCGA-56-7823ATP11Achr13

113439571

+F7chr13

113768161

+


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Fusion Gene ORF analysis for ATP11A-F7

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-3UTRENST00000283558ENST00000473085ATP11Achr13

113439571

+F7chr13

113768161

+
5CDS-3UTRENST00000283558ENST00000473085ATP11Achr13

113439571

+F7chr13

113765004

+
5CDS-3UTRENST00000283558ENST00000473085ATP11Achr13

113439571

+F7chr13

113768066

+
5CDS-3UTRENST00000375630ENST00000473085ATP11Achr13

113439571

+F7chr13

113768161

+
5CDS-3UTRENST00000375630ENST00000473085ATP11Achr13

113439571

+F7chr13

113765004

+
5CDS-3UTRENST00000375630ENST00000473085ATP11Achr13

113439571

+F7chr13

113768066

+
5CDS-3UTRENST00000375645ENST00000473085ATP11Achr13

113439571

+F7chr13

113768161

+
5CDS-3UTRENST00000375645ENST00000473085ATP11Achr13

113439571

+F7chr13

113765004

+
5CDS-3UTRENST00000375645ENST00000473085ATP11Achr13

113439571

+F7chr13

113768066

+
5CDS-3UTRENST00000487903ENST00000473085ATP11Achr13

113439571

+F7chr13

113768161

+
5CDS-3UTRENST00000487903ENST00000473085ATP11Achr13

113439571

+F7chr13

113765004

+
5CDS-3UTRENST00000487903ENST00000473085ATP11Achr13

113439571

+F7chr13

113768066

+
5CDS-intronENST00000283558ENST00000346342ATP11Achr13

113439571

+F7chr13

113765004

+
5CDS-intronENST00000283558ENST00000346342ATP11Achr13

113439571

+F7chr13

113768066

+
5CDS-intronENST00000283558ENST00000375581ATP11Achr13

113439571

+F7chr13

113765004

+
5CDS-intronENST00000283558ENST00000375581ATP11Achr13

113439571

+F7chr13

113768066

+
5CDS-intronENST00000283558ENST00000541084ATP11Achr13

113439571

+F7chr13

113765004

+
5CDS-intronENST00000283558ENST00000541084ATP11Achr13

113439571

+F7chr13

113768066

+
5CDS-intronENST00000375630ENST00000346342ATP11Achr13

113439571

+F7chr13

113765004

+
5CDS-intronENST00000375630ENST00000346342ATP11Achr13

113439571

+F7chr13

113768066

+
5CDS-intronENST00000375630ENST00000375581ATP11Achr13

113439571

+F7chr13

113765004

+
5CDS-intronENST00000375630ENST00000375581ATP11Achr13

113439571

+F7chr13

113768066

+
5CDS-intronENST00000375630ENST00000541084ATP11Achr13

113439571

+F7chr13

113765004

+
5CDS-intronENST00000375630ENST00000541084ATP11Achr13

113439571

+F7chr13

113768066

+
5CDS-intronENST00000375645ENST00000346342ATP11Achr13

113439571

+F7chr13

113765004

+
5CDS-intronENST00000375645ENST00000346342ATP11Achr13

113439571

+F7chr13

113768066

+
5CDS-intronENST00000375645ENST00000375581ATP11Achr13

113439571

+F7chr13

113765004

+
5CDS-intronENST00000375645ENST00000375581ATP11Achr13

113439571

+F7chr13

113768066

+
5CDS-intronENST00000375645ENST00000541084ATP11Achr13

113439571

+F7chr13

113765004

+
5CDS-intronENST00000375645ENST00000541084ATP11Achr13

113439571

+F7chr13

113768066

+
5CDS-intronENST00000487903ENST00000346342ATP11Achr13

113439571

+F7chr13

113765004

+
5CDS-intronENST00000487903ENST00000346342ATP11Achr13

113439571

+F7chr13

113768066

+
5CDS-intronENST00000487903ENST00000375581ATP11Achr13

113439571

+F7chr13

113765004

+
5CDS-intronENST00000487903ENST00000375581ATP11Achr13

113439571

+F7chr13

113768066

+
5CDS-intronENST00000487903ENST00000541084ATP11Achr13

113439571

+F7chr13

113765004

+
5CDS-intronENST00000487903ENST00000541084ATP11Achr13

113439571

+F7chr13

113768066

+
Frame-shiftENST00000283558ENST00000346342ATP11Achr13

113439571

+F7chr13

113768161

+
Frame-shiftENST00000283558ENST00000375581ATP11Achr13

113439571

+F7chr13

113768161

+
Frame-shiftENST00000283558ENST00000541084ATP11Achr13

113439571

+F7chr13

113768161

+
Frame-shiftENST00000375630ENST00000346342ATP11Achr13

113439571

+F7chr13

113768161

+
Frame-shiftENST00000375630ENST00000375581ATP11Achr13

113439571

+F7chr13

113768161

+
Frame-shiftENST00000375630ENST00000541084ATP11Achr13

113439571

+F7chr13

113768161

+
Frame-shiftENST00000375645ENST00000346342ATP11Achr13

113439571

+F7chr13

113768161

+
Frame-shiftENST00000375645ENST00000375581ATP11Achr13

113439571

+F7chr13

113768161

+
Frame-shiftENST00000375645ENST00000541084ATP11Achr13

113439571

+F7chr13

113768161

+
Frame-shiftENST00000487903ENST00000346342ATP11Achr13

113439571

+F7chr13

113768161

+
Frame-shiftENST00000487903ENST00000375581ATP11Achr13

113439571

+F7chr13

113768161

+
Frame-shiftENST00000487903ENST00000541084ATP11Achr13

113439571

+F7chr13

113768161

+
intron-3CDSENST00000419448ENST00000346342ATP11Achr13

113439571

+F7chr13

113768161

+
intron-3CDSENST00000419448ENST00000375581ATP11Achr13

113439571

+F7chr13

113768161

+
intron-3CDSENST00000419448ENST00000541084ATP11Achr13

113439571

+F7chr13

113768161

+
intron-3UTRENST00000419448ENST00000473085ATP11Achr13

113439571

+F7chr13

113768161

+
intron-3UTRENST00000419448ENST00000473085ATP11Achr13

113439571

+F7chr13

113765004

+
intron-3UTRENST00000419448ENST00000473085ATP11Achr13

113439571

+F7chr13

113768066

+
intron-intronENST00000419448ENST00000346342ATP11Achr13

113439571

+F7chr13

113765004

+
intron-intronENST00000419448ENST00000346342ATP11Achr13

113439571

+F7chr13

113768066

+
intron-intronENST00000419448ENST00000375581ATP11Achr13

113439571

+F7chr13

113765004

+
intron-intronENST00000419448ENST00000375581ATP11Achr13

113439571

+F7chr13

113768066

+
intron-intronENST00000419448ENST00000541084ATP11Achr13

113439571

+F7chr13

113765004

+
intron-intronENST00000419448ENST00000541084ATP11Achr13

113439571

+F7chr13

113768066

+

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 ATP11A-F7


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)
ATP11Achr13113439571+F7chr13113768065+0.0025389460.9974611
ATP11Achr13113439571+F7chr13113768160+0.0007508240.99924916
ATP11Achr13113439571+F7chr13113768160+0.0007508240.99924916
ATP11Achr13113439571+F7chr13113765003+0.0002668650.99973315
ATP11Achr13113439571+F7chr13113768065+0.0025389460.9974611
ATP11Achr13113439571+F7chr13113768160+0.0007508240.99924916
ATP11Achr13113439571+F7chr13113768160+0.0007508240.99924916
ATP11Achr13113439571+F7chr13113765003+0.0002668650.99973315

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.
genomic feature

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.
genomic feature of top 1%

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Fusion Protein Features for ATP11A-F7


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/:113439571/:113768161)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 ATP11A-F7


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 ATP11A-F7


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 ATP11A-F7


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

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Related Diseases for ATP11A-F7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP11AC0085786Hamman-Rich syndrome1ORPHANET
HgeneATP11AC1800706Idiopathic Pulmonary Fibrosis1CTD_human;ORPHANET
HgeneATP11AC4721508Hamman-Rich Disease1CTD_human
HgeneATP11AC4721509Usual Interstitial Pneumonia1CTD_human
HgeneATP11AC4721952Familial Idiopathic Pulmonary Fibrosis1CTD_human
TgeneC0015503Factor VII Deficiency34CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0151699Intracranial Hemorrhage5CTD_human
TgeneC0553692Brain hemorrhage5CTD_human
TgeneC0751893Posterior Fossa Hemorrhage5CTD_human
TgeneC0019080Hemorrhage3CTD_human
TgeneC2937358Cerebral Hemorrhage2CTD_human
TgeneC0012739Disseminated Intravascular Coagulation1CTD_human
TgeneC0018965Hematuria1CTD_human
TgeneC0019087Hemorrhagic Disorders1CTD_human
TgeneC0032787Postoperative Complications1CTD_human
TgeneC0040038Thromboembolism1CTD_human
TgeneC0042487Venous Thrombosis1CTD_human
TgeneC0149871Deep Vein Thrombosis1CTD_human
TgeneC0749098Hematoma, Subdural, Acute1CTD_human
TgeneC0751797Intracranial Hematoma, Traumatic1CTD_human