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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-COL14A1 (FusionGDB2 ID:HG23250TG7373)

Fusion Gene Summary for ATP11A-COL14A1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP11A-COL14A1
Fusion gene ID: hg23250tg7373
HgeneTgene
Gene symbol

ATP11A

COL14A1

Gene ID

23250

7373

Gene nameATPase phospholipid transporting 11Acollagen type XIV alpha 1 chain
SynonymsATPIH|ATPISUND
Cytomap('ATP11A')('COL14A1')

13q34

8q24.12

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 IHcollagen alpha-1(XIV) chaincollagen, type XIV, alpha 1undulin (fibronectin-tenascin-related)
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000283558, ENST00000375630, 
ENST00000375645, ENST00000487903, 
ENST00000419448, 
Fusion gene scores* DoF score20 X 11 X 16=352012 X 13 X 6=936
# samples 3113
** MAII scorelog2(31/3520*10)=-3.50523530825042
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/936*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP11A [Title/Abstract] AND COL14A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP11A(113344769)-COL14A1(121160045), # samples:3
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


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
ChimerDB4MESOTCGA-3U-A98D-01AATP11Achr13

113344769

-COL14A1chr8

121160045

+
ChimerDB4MESOTCGA-3U-A98D-01AATP11Achr13

113344769

+COL14A1chr8

121160045

+
ChimerDB4MESOTCGA-3U-A98DATP11Achr13

113344769

+COL14A1chr8

121117822

+
ChimerDB4MESOTCGA-3U-A98DATP11Achr13

113344769

+COL14A1chr8

121160045

+


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Fusion Gene ORF analysis for ATP11A-COL14A1

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-3UTRENST00000283558ENST00000432943ATP11Achr13

113344769

+COL14A1chr8

121160045

+
5CDS-3UTRENST00000375630ENST00000432943ATP11Achr13

113344769

+COL14A1chr8

121160045

+
5CDS-3UTRENST00000375645ENST00000432943ATP11Achr13

113344769

+COL14A1chr8

121160045

+
5CDS-3UTRENST00000487903ENST00000432943ATP11Achr13

113344769

+COL14A1chr8

121160045

+
5CDS-5UTRENST00000283558ENST00000247781ATP11Achr13

113344769

+COL14A1chr8

121160045

+
5CDS-5UTRENST00000283558ENST00000297848ATP11Achr13

113344769

+COL14A1chr8

121160045

+
5CDS-5UTRENST00000283558ENST00000309791ATP11Achr13

113344769

+COL14A1chr8

121160045

+
5CDS-5UTRENST00000283558ENST00000537875ATP11Achr13

113344769

+COL14A1chr8

121160045

+
5CDS-5UTRENST00000283558ENST00000537875ATP11Achr13

113344769

+COL14A1chr8

121117822

+
5CDS-5UTRENST00000375630ENST00000247781ATP11Achr13

113344769

+COL14A1chr8

121160045

+
5CDS-5UTRENST00000375630ENST00000297848ATP11Achr13

113344769

+COL14A1chr8

121160045

+
5CDS-5UTRENST00000375630ENST00000309791ATP11Achr13

113344769

+COL14A1chr8

121160045

+
5CDS-5UTRENST00000375630ENST00000537875ATP11Achr13

113344769

+COL14A1chr8

121160045

+
5CDS-5UTRENST00000375630ENST00000537875ATP11Achr13

113344769

+COL14A1chr8

121117822

+
5CDS-5UTRENST00000375645ENST00000247781ATP11Achr13

113344769

+COL14A1chr8

121160045

+
5CDS-5UTRENST00000375645ENST00000297848ATP11Achr13

113344769

+COL14A1chr8

121160045

+
5CDS-5UTRENST00000375645ENST00000309791ATP11Achr13

113344769

+COL14A1chr8

121160045

+
5CDS-5UTRENST00000375645ENST00000537875ATP11Achr13

113344769

+COL14A1chr8

121160045

+
5CDS-5UTRENST00000375645ENST00000537875ATP11Achr13

113344769

+COL14A1chr8

121117822

+
5CDS-5UTRENST00000487903ENST00000247781ATP11Achr13

113344769

+COL14A1chr8

121160045

+
5CDS-5UTRENST00000487903ENST00000297848ATP11Achr13

113344769

+COL14A1chr8

121160045

+
5CDS-5UTRENST00000487903ENST00000309791ATP11Achr13

113344769

+COL14A1chr8

121160045

+
5CDS-5UTRENST00000487903ENST00000537875ATP11Achr13

113344769

+COL14A1chr8

121160045

+
5CDS-5UTRENST00000487903ENST00000537875ATP11Achr13

113344769

+COL14A1chr8

121117822

+
5CDS-intronENST00000283558ENST00000247781ATP11Achr13

113344769

+COL14A1chr8

121117822

+
5CDS-intronENST00000283558ENST00000297848ATP11Achr13

113344769

+COL14A1chr8

121117822

+
5CDS-intronENST00000283558ENST00000309791ATP11Achr13

113344769

+COL14A1chr8

121117822

+
5CDS-intronENST00000283558ENST00000432943ATP11Achr13

113344769

+COL14A1chr8

121117822

+
5CDS-intronENST00000375630ENST00000247781ATP11Achr13

113344769

+COL14A1chr8

121117822

+
5CDS-intronENST00000375630ENST00000297848ATP11Achr13

113344769

+COL14A1chr8

121117822

+
5CDS-intronENST00000375630ENST00000309791ATP11Achr13

113344769

+COL14A1chr8

121117822

+
5CDS-intronENST00000375630ENST00000432943ATP11Achr13

113344769

+COL14A1chr8

121117822

+
5CDS-intronENST00000375645ENST00000247781ATP11Achr13

113344769

+COL14A1chr8

121117822

+
5CDS-intronENST00000375645ENST00000297848ATP11Achr13

113344769

+COL14A1chr8

121117822

+
5CDS-intronENST00000375645ENST00000309791ATP11Achr13

113344769

+COL14A1chr8

121117822

+
5CDS-intronENST00000375645ENST00000432943ATP11Achr13

113344769

+COL14A1chr8

121117822

+
5CDS-intronENST00000487903ENST00000247781ATP11Achr13

113344769

+COL14A1chr8

121117822

+
5CDS-intronENST00000487903ENST00000297848ATP11Achr13

113344769

+COL14A1chr8

121117822

+
5CDS-intronENST00000487903ENST00000309791ATP11Achr13

113344769

+COL14A1chr8

121117822

+
5CDS-intronENST00000487903ENST00000432943ATP11Achr13

113344769

+COL14A1chr8

121117822

+
intron-3UTRENST00000419448ENST00000432943ATP11Achr13

113344769

+COL14A1chr8

121160045

+
intron-5UTRENST00000419448ENST00000247781ATP11Achr13

113344769

+COL14A1chr8

121160045

+
intron-5UTRENST00000419448ENST00000297848ATP11Achr13

113344769

+COL14A1chr8

121160045

+
intron-5UTRENST00000419448ENST00000309791ATP11Achr13

113344769

+COL14A1chr8

121160045

+
intron-5UTRENST00000419448ENST00000537875ATP11Achr13

113344769

+COL14A1chr8

121160045

+
intron-5UTRENST00000419448ENST00000537875ATP11Achr13

113344769

+COL14A1chr8

121117822

+
intron-intronENST00000419448ENST00000247781ATP11Achr13

113344769

+COL14A1chr8

121117822

+
intron-intronENST00000419448ENST00000297848ATP11Achr13

113344769

+COL14A1chr8

121117822

+
intron-intronENST00000419448ENST00000309791ATP11Achr13

113344769

+COL14A1chr8

121117822

+
intron-intronENST00000419448ENST00000432943ATP11Achr13

113344769

+COL14A1chr8

121117822

+

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-COL14A1


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)
ATP11Achr13113344769+COL14A1chr8121160044+0.0031401960.9968598
ATP11Achr13113344769+COL14A1chr8121160044+0.0031401960.9968598
ATP11Achr13113344769+COL14A1chr8121160044+0.0031401960.9968598
ATP11Achr13113344769+COL14A1chr8121160044+0.0031401960.9968598


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-COL14A1


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/:113344769/:121160045)
- 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-COL14A1


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-COL14A1


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-COL14A1


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-COL14A1


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
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1835662Keratosis palmoplantaris papulosa1ORPHANET
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human