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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:ATP4A-FKBP4

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ATP4A-FKBP4
FusionPDB ID: 7909
FusionGDB2.0 ID: 7909
HgeneTgene
Gene symbol

ATP4A

FKBP4

Gene ID

495

63943

Gene nameATPase H+/K+ transporting subunit alphaFKBP prolyl isomerase like
SynonymsATP6ADIR1|FKBP4|NG7|WISP39
Cytomap

19q13.12

6p21.32

Type of geneprotein-codingprotein-coding
Descriptionpotassium-transporting ATPase alpha chain 1ATPase H+/K+ transporting alpha subunitATPase, H+/K+ exchanging, alpha polypeptideATPase, H+/K+ transporting, alpha polypeptideepididymis secretory sperm binding proteingastric H+/K+ ATPase alpha subunitgasFK506-binding protein-likeFK506 binding protein likeWAF-1/CIP1 stabilizing protein 39peptidyl-prolyl cis-trans isomerase
Modification date2020031320200313
UniProtAcc

P20648

Q02790

Ensembl transtripts involved in fusion geneENST idsENST00000262623, ENST00000540260, 
ENST00000001008, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score1 X 1 X 1=12 X 2 X 2=8
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/8*10)=1.32192809488736
Context (manual curation of fusion genes in FusionPDB)

PubMed: ATP4A [Title/Abstract] AND FKBP4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ATP4A(36049894)-FKBP4(2908253), # samples:1
Anticipated loss of major functional domain due to fusion event.ATP4A-FKBP4 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.
ATP4A-FKBP4 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.
ATP4A-FKBP4 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.
ATP4A-FKBP4 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

check buttonFusion gene breakpoints across ATP4A (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 FKBP4 (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
ChimerDB4ESCATCGA-JY-A939ATP4Achr19

36049894

-FKBP4chr12

2908253

+


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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)
ENST00000262623ATP4Achr1936049894-ENST00000001008FKBP4chr122908253+28501284292149706

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
ENST00000262623ENST00000001008ATP4Achr1936049894-FKBP4chr122908253+0.0039756010.99602437

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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

>7909_7909_1_ATP4A-FKBP4_ATP4A_chr19_36049894_ENST00000262623_FKBP4_chr12_2908253_ENST00000001008_length(amino acids)=706AA_BP=418
MGKAENYELYSVELGPGPGGDMAAKMSKKKKAGGGGGKRKEKLENMKKEMEINDHQLSVAELEQKYQTSATKGLSASLAAELLLRDGPNA
LRPPRGTPEYVKFARQLAGGLQCLMWVAAAICLIAFAIQASEGDLTTDDNLYLAIALIAVVVVTGCFGYYQEFKSTNIIASFKNLVPQQA
TVIRDGDKFQINADQLVVGDLVEMKGGDRVPADIRILAAQGCKVDNSSLTGESEPQTRSPECTHESPLETRNIAFFSTMCLEGTVQGLVV
NTGDRTIIGRIASLASGVENEKTPIAIEIEHFVDIIAGLAILFGATFFIVAMCIGYTFLRAMVFFMAIVVAYVPEGLLATVTVCLSLTAK
RLASKNCVVKNLEAVETLGSTSVICSDKTGTLTQNRMTVSHLWFDNHIHTADTTEDQSVALEGYYKDKLFDQRELRFEIGEGENLDLPYG
LERAIQRMEKGEHSIVYLKPSYAFGSVGKEKFQIPPNAELKYELHLKSFEKAKESWEMNSEEKLEQSTIVKERGTVYFKEGKYKQALLQY
KKIVSWLEYESSFSNEEAQKAQALRLASHLNLAMCHLKLQAFSAAIESCNKALELDSNNEKGLFRRGEAHLAVNDFELARADFQKVLQLY

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

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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/chr19:36049894/chr12:2908253)
- 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
ATP4A

P20648

FKBP4

Q02790

FUNCTION: Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. Responsible for acid production in the stomach.FUNCTION: Immunophilin protein with PPIase and co-chaperone activities. Component of steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). May play a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors between cytoplasm and nuclear compartments. The isomerase activity controls neuronal growth cones via regulation of TRPC1 channel opening. Acts also as a regulator of microtubule dynamics by inhibiting MAPT/TAU ability to promote microtubule assembly. May have a protective role against oxidative stress in mitochondria. {ECO:0000269|PubMed:1279700, ECO:0000269|PubMed:1376003, ECO:0000269|PubMed:19945390, ECO:0000269|PubMed:21730050, ECO:0000269|PubMed:2378870}.

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
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-822120_142418.33333333333331036.0Topological domainLumenal
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-822164_299418.33333333333331036.0Topological domainCytoplasmic
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-8221_98418.33333333333331036.0Topological domainCytoplasmic
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-822320_331418.33333333333331036.0Topological domainLumenal
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-822143_163418.33333333333331036.0TransmembraneHelical
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-822300_319418.33333333333331036.0TransmembraneHelical
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-822332_349418.33333333333331036.0TransmembraneHelical
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-82299_119418.33333333333331036.0TransmembraneHelical
TgeneFKBP4chr19:36049894chr12:2908253ENST00000001008310270_303171.33333333333334460.0RepeatNote=TPR 1
TgeneFKBP4chr19:36049894chr12:2908253ENST00000001008310319_352171.33333333333334460.0RepeatNote=TPR 2
TgeneFKBP4chr19:36049894chr12:2908253ENST00000001008310353_386171.33333333333334460.0RepeatNote=TPR 3

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-8221019_1035418.33333333333331036.0Topological domainCytoplasmic
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-822350_783418.33333333333331036.0Topological domainCytoplasmic
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-822804_813418.33333333333331036.0Topological domainLumenal
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-822835_854418.33333333333331036.0Topological domainCytoplasmic
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-822878_929418.33333333333331036.0Topological domainLumenal
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-822950_963418.33333333333331036.0Topological domainCytoplasmic
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-822983_997418.33333333333331036.0Topological domainLumenal
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-822784_803418.33333333333331036.0TransmembraneHelical
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-822814_834418.33333333333331036.0TransmembraneHelical
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-822855_877418.33333333333331036.0TransmembraneHelical
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-822930_949418.33333333333331036.0TransmembraneHelical
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-822964_982418.33333333333331036.0TransmembraneHelical
HgeneATP4Achr19:36049894chr12:2908253ENST00000262623-822998_1018418.33333333333331036.0TransmembraneHelical
TgeneFKBP4chr19:36049894chr12:2908253ENST00000001008310167_253171.33333333333334460.0DomainPPIase FKBP-type 2
TgeneFKBP4chr19:36049894chr12:2908253ENST0000000100831050_138171.33333333333334460.0DomainPPIase FKBP-type 1


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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
ATP4A
FKBP4


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 ATP4A-FKBP4


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 ATP4A-FKBP4


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