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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:C1QA-ATP1A1 (FusionGDB2 ID:HG712TG476)

Fusion Gene Summary for C1QA-ATP1A1

check button Fusion gene summary
Fusion gene informationFusion gene name: C1QA-ATP1A1
Fusion gene ID: hg712tg476
HgeneTgene
Gene symbol

C1QA

ATP1A1

Gene ID

712

476

Gene namecomplement C1q A chainATPase Na+/K+ transporting subunit alpha 1
Synonyms-CMT2DD|HOMGSMR2
Cytomap('C1QA')('ATP1A1')

1p36.12

1p13.1

Type of geneprotein-codingprotein-coding
Descriptioncomplement C1q subcomponent subunit Acomplement C1q chain Acomplement component 1, q subcomponent, A chaincomplement component 1, q subcomponent, alpha polypeptidecomplement component C1q, A chainsodium/potassium-transporting ATPase subunit alpha-1ATPase, Na+/K+ transporting, alpha 1 polypeptideNa(+)/K(+) ATPase alpha-1 subunitNa+/K+ ATPase 1Na, K-ATPase, alpha-A catalytic polypeptideNa,K-ATPase alpha-1 subunitNa,K-ATPase catalytic subunit a
Modification date2020031320200313
UniProtAcc

P02745

P05023

Ensembl transtripts involved in fusion geneENST00000374642, ENST00000402322, 
Fusion gene scores* DoF score8 X 9 X 5=36019 X 23 X 5=2185
# samples 824
** MAII scorelog2(8/360*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(24/2185*10)=-3.18652696877944
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C1QA [Title/Abstract] AND ATP1A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC1QA(22964220)-ATP1A1(116940614), # samples:1
Anticipated loss of major functional domain due to fusion event.C1QA-ATP1A1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
C1QA-ATP1A1 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
TgeneATP1A1

GO:0006883

cellular sodium ion homeostasis

10636900|19542013

TgeneATP1A1

GO:0030007

cellular potassium ion homeostasis

10636900|19542013

TgeneATP1A1

GO:0036376

sodium ion export across plasma membrane

10636900|19542013

TgeneATP1A1

GO:0071383

cellular response to steroid hormone stimulus

11546672

TgeneATP1A1

GO:0086009

membrane repolarization

19542013

TgeneATP1A1

GO:1903416

response to glycoside

11546672

TgeneATP1A1

GO:1990573

potassium ion import across plasma membrane

10636900|19542013



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
ChimerDB4STADTCGA-BR-8078-01AC1QAchr1

22964220

+ATP1A1chr1

116940614

+


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Fusion Gene ORF analysis for C1QA-ATP1A1

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-intronENST00000374642ENST00000491156C1QAchr1

22964220

+ATP1A1chr1

116940614

+
5CDS-intronENST00000402322ENST00000491156C1QAchr1

22964220

+ATP1A1chr1

116940614

+
Frame-shiftENST00000374642ENST00000295598C1QAchr1

22964220

+ATP1A1chr1

116940614

+
Frame-shiftENST00000374642ENST00000369496C1QAchr1

22964220

+ATP1A1chr1

116940614

+
Frame-shiftENST00000374642ENST00000537345C1QAchr1

22964220

+ATP1A1chr1

116940614

+
Frame-shiftENST00000402322ENST00000295598C1QAchr1

22964220

+ATP1A1chr1

116940614

+
Frame-shiftENST00000402322ENST00000369496C1QAchr1

22964220

+ATP1A1chr1

116940614

+
Frame-shiftENST00000402322ENST00000537345C1QAchr1

22964220

+ATP1A1chr1

116940614

+

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 C1QA-ATP1A1


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)


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Fusion Protein Features for C1QA-ATP1A1


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/:22964220/:116940614)
- 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
C1QA

P02745

ATP1A1

P05023

FUNCTION: C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes.FUNCTION: This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. {ECO:0000269|PubMed:29499166, ECO:0000269|PubMed:30388404}.

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 C1QA-ATP1A1


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 C1QA-ATP1A1


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 C1QA-ATP1A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneC1QAP02745DB00002CetuximabBiotechApproved
HgeneC1QAP02745DB00110PalivizumabBiotechApproved|Investigational
HgeneC1QAP02745DB00112BevacizumabBiotechApproved|Investigational
TgeneATP1A1P05023DB00390DigoxinInhibitorSmall moleculeApproved
TgeneATP1A1P05023DB00511AcetyldigitoxinInhibitorSmall moleculeApproved
TgeneATP1A1P05023DB01078DeslanosideInhibitorSmall moleculeApproved
TgeneATP1A1P05023DB01092OuabainInhibitorSmall moleculeApproved
TgeneATP1A1P05023DB01119DiazoxideOtherSmall moleculeApproved
TgeneATP1A1P05023DB01158BretyliumInhibitorSmall moleculeApproved
TgeneATP1A1P05023DB01430AlmitrineBinderSmall moleculeApproved
TgeneATP1A1P05023DB13996Magnesium acetateSmall moleculeApproved
TgeneATP1A1P05023DB14500PotassiumRegulatorSmall moleculeApproved|Experimental
TgeneATP1A1P05023DB00903Etacrynic acidInhibitorSmall moleculeApproved|Investigational
TgeneATP1A1P05023DB01188CiclopiroxBinderSmall moleculeApproved|Investigational
TgeneATP1A1P05023DB01345Potassium cationSmall moleculeApproved|Investigational
TgeneATP1A1P05023DB01370AluminiumBinderSmall moleculeApproved|Investigational
TgeneATP1A1P05023DB01396DigitoxinInhibitorSmall moleculeApproved|Investigational
TgeneATP1A1P05023DB14498Potassium acetateSmall moleculeApproved|Investigational
TgeneATP1A1P05023DB14499Potassium sulfateSmall moleculeApproved|Investigational
TgeneATP1A1P05023DB14517Aluminium phosphateSmall moleculeApproved|Investigational
TgeneATP1A1P05023DB14518Aluminum acetateSmall moleculeApproved|Investigational
TgeneATP1A1P05023DB00774HydroflumethiazideInducerSmall moleculeApproved|Investigational|Withdrawn
TgeneATP1A1P05023DB01378Magnesium cationSmall moleculeApproved|Nutraceutical
TgeneATP1A1P05023DB01021TrichlormethiazideInhibitorSmall moleculeApproved|Vet_approved
TgeneATP1A1P05023DB01244BepridilInhibitorSmall moleculeApproved|Withdrawn

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Related Diseases for C1QA-ATP1A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneC1QAC0017661IGA Glomerulonephritis2CTD_human
HgeneC1QAC0015230Exanthema1CTD_human
HgeneC1QAC0017662Glomerulonephritis, Membranoproliferative1CTD_human
HgeneC1QAC0020951Immune Complex Diseases1CTD_human
HgeneC1QAC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneC1QAC0024141Lupus Erythematosus, Systemic1CTD_human
HgeneC1QAC0242380Libman-Sacks Disease1CTD_human
HgeneC1QAC0268742Membranoproliferative Glomerulonephritis, Type I1CTD_human
HgeneC1QAC0268743Membranoproliferative Glomerulonephritis, Type II1CTD_human
HgeneC1QAC0272242Complement deficiency disease1GENOMICS_ENGLAND
HgeneC1QAC1720821Membranoproliferative Glomerulonephritis, Type III1CTD_human
HgeneC1QAC3150902C1q DEFICIENCY1CTD_human;GENOMICS_ENGLAND
HgeneC1QAC3280742SYSTEMIC LUPUS ERYTHEMATOSUS 161ORPHANET
TgeneC0001430Adenoma2CTD_human
TgeneC0205646Adenoma, Basal Cell2CTD_human
TgeneC0205647Follicular adenoma2CTD_human
TgeneC0205648Adenoma, Microcystic2CTD_human
TgeneC0205649Adenoma, Monomorphic2CTD_human
TgeneC0205650Papillary adenoma2CTD_human
TgeneC0205651Adenoma, Trabecular2CTD_human
TgeneC4747974CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD2GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0005586Bipolar Disorder1PSYGENET
TgeneC0017162Gastroenteritis, Transmissible, of Swine1CTD_human
TgeneC0020428Hyperaldosteronism1CTD_human
TgeneC0020538Hypertensive disease1CTD_human
TgeneC0027051Myocardial Infarction1CTD_human
TgeneC0027055Myocardial Reperfusion Injury1CTD_human
TgeneC0036572Seizures1GENOMICS_ENGLAND
TgeneC0042594Vestibular Diseases1CTD_human
TgeneC0151723Hypomagnesemia1GENOMICS_ENGLAND
TgeneC0151744Myocardial Ischemia1CTD_human
TgeneC1384514Conn Syndrome1CTD_human
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneC4552839Hypomagnesemia, CTCAE1GENOMICS_ENGLAND