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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:C1QA-ATP1A1 (FusionGDB2 ID:HG712TG476) |
Fusion Gene Summary for C1QA-ATP1A1 |
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Fusion gene information | Fusion gene name: C1QA-ATP1A1 | Fusion gene ID: hg712tg476 | Hgene | Tgene | Gene symbol | C1QA | ATP1A1 | Gene ID | 712 | 476 |
Gene name | complement C1q A chain | ATPase Na+/K+ transporting subunit alpha 1 | |
Synonyms | - | CMT2DD|HOMGSMR2 | |
Cytomap | ('C1QA')('ATP1A1') 1p36.12 | 1p13.1 | |
Type of gene | protein-coding | protein-coding | |
Description | complement C1q subcomponent subunit Acomplement C1q chain Acomplement component 1, q subcomponent, A chaincomplement component 1, q subcomponent, alpha polypeptidecomplement component C1q, A chain | sodium/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 date | 20200313 | 20200313 | |
UniProtAcc | P02745 | P05023 | |
Ensembl transtripts involved in fusion gene | ENST00000374642, ENST00000402322, | ||
Fusion gene scores | * DoF score | 8 X 9 X 5=360 | 19 X 23 X 5=2185 |
# samples | 8 | 24 | |
** MAII score | log2(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 breakpoint | C1QA(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | ATP1A1 | GO:0006883 | cellular sodium ion homeostasis | 10636900|19542013 |
Tgene | ATP1A1 | GO:0030007 | cellular potassium ion homeostasis | 10636900|19542013 |
Tgene | ATP1A1 | GO:0036376 | sodium ion export across plasma membrane | 10636900|19542013 |
Tgene | ATP1A1 | GO:0071383 | cellular response to steroid hormone stimulus | 11546672 |
Tgene | ATP1A1 | GO:0086009 | membrane repolarization | 19542013 |
Tgene | ATP1A1 | GO:1903416 | response to glycoside | 11546672 |
Tgene | ATP1A1 | GO:1990573 | potassium ion import across plasma membrane | 10636900|19542013 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | STAD | TCGA-BR-8078-01A | C1QA | chr1 | 22964220 | + | ATP1A1 | chr1 | 116940614 | + |
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Fusion Gene ORF analysis for C1QA-ATP1A1 |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-intron | ENST00000374642 | ENST00000491156 | C1QA | chr1 | 22964220 | + | ATP1A1 | chr1 | 116940614 | + |
5CDS-intron | ENST00000402322 | ENST00000491156 | C1QA | chr1 | 22964220 | + | ATP1A1 | chr1 | 116940614 | + |
Frame-shift | ENST00000374642 | ENST00000295598 | C1QA | chr1 | 22964220 | + | ATP1A1 | chr1 | 116940614 | + |
Frame-shift | ENST00000374642 | ENST00000369496 | C1QA | chr1 | 22964220 | + | ATP1A1 | chr1 | 116940614 | + |
Frame-shift | ENST00000374642 | ENST00000537345 | C1QA | chr1 | 22964220 | + | ATP1A1 | chr1 | 116940614 | + |
Frame-shift | ENST00000402322 | ENST00000295598 | C1QA | chr1 | 22964220 | + | ATP1A1 | chr1 | 116940614 | + |
Frame-shift | ENST00000402322 | ENST00000369496 | C1QA | chr1 | 22964220 | + | ATP1A1 | chr1 | 116940614 | + |
Frame-shift | ENST00000402322 | ENST00000537345 | C1QA | chr1 | 22964220 | + | ATP1A1 | chr1 | 116940614 | + |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for C1QA-ATP1A1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for C1QA-ATP1A1 |
![]() 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. |
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Hgene | Tgene |
C1QA | ATP1A1 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for C1QA-ATP1A1 |
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Fusion Gene PPI Analysis for C1QA-ATP1A1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for C1QA-ATP1A1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | C1QA | P02745 | DB00002 | Cetuximab | Biotech | Approved | |
Hgene | C1QA | P02745 | DB00110 | Palivizumab | Biotech | Approved|Investigational | |
Hgene | C1QA | P02745 | DB00112 | Bevacizumab | Biotech | Approved|Investigational | |
Tgene | ATP1A1 | P05023 | DB00390 | Digoxin | Inhibitor | Small molecule | Approved |
Tgene | ATP1A1 | P05023 | DB00511 | Acetyldigitoxin | Inhibitor | Small molecule | Approved |
Tgene | ATP1A1 | P05023 | DB01078 | Deslanoside | Inhibitor | Small molecule | Approved |
Tgene | ATP1A1 | P05023 | DB01092 | Ouabain | Inhibitor | Small molecule | Approved |
Tgene | ATP1A1 | P05023 | DB01119 | Diazoxide | Other | Small molecule | Approved |
Tgene | ATP1A1 | P05023 | DB01158 | Bretylium | Inhibitor | Small molecule | Approved |
Tgene | ATP1A1 | P05023 | DB01430 | Almitrine | Binder | Small molecule | Approved |
Tgene | ATP1A1 | P05023 | DB13996 | Magnesium acetate | Small molecule | Approved | |
Tgene | ATP1A1 | P05023 | DB14500 | Potassium | Regulator | Small molecule | Approved|Experimental |
Tgene | ATP1A1 | P05023 | DB00903 | Etacrynic acid | Inhibitor | Small molecule | Approved|Investigational |
Tgene | ATP1A1 | P05023 | DB01188 | Ciclopirox | Binder | Small molecule | Approved|Investigational |
Tgene | ATP1A1 | P05023 | DB01345 | Potassium cation | Small molecule | Approved|Investigational | |
Tgene | ATP1A1 | P05023 | DB01370 | Aluminium | Binder | Small molecule | Approved|Investigational |
Tgene | ATP1A1 | P05023 | DB01396 | Digitoxin | Inhibitor | Small molecule | Approved|Investigational |
Tgene | ATP1A1 | P05023 | DB14498 | Potassium acetate | Small molecule | Approved|Investigational | |
Tgene | ATP1A1 | P05023 | DB14499 | Potassium sulfate | Small molecule | Approved|Investigational | |
Tgene | ATP1A1 | P05023 | DB14517 | Aluminium phosphate | Small molecule | Approved|Investigational | |
Tgene | ATP1A1 | P05023 | DB14518 | Aluminum acetate | Small molecule | Approved|Investigational | |
Tgene | ATP1A1 | P05023 | DB00774 | Hydroflumethiazide | Inducer | Small molecule | Approved|Investigational|Withdrawn |
Tgene | ATP1A1 | P05023 | DB01378 | Magnesium cation | Small molecule | Approved|Nutraceutical | |
Tgene | ATP1A1 | P05023 | DB01021 | Trichlormethiazide | Inhibitor | Small molecule | Approved|Vet_approved |
Tgene | ATP1A1 | P05023 | DB01244 | Bepridil | Inhibitor | Small molecule | Approved|Withdrawn |
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Related Diseases for C1QA-ATP1A1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | C1QA | C0017661 | IGA Glomerulonephritis | 2 | CTD_human |
Hgene | C1QA | C0015230 | Exanthema | 1 | CTD_human |
Hgene | C1QA | C0017662 | Glomerulonephritis, Membranoproliferative | 1 | CTD_human |
Hgene | C1QA | C0020951 | Immune Complex Diseases | 1 | CTD_human |
Hgene | C1QA | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | C1QA | C0024141 | Lupus Erythematosus, Systemic | 1 | CTD_human |
Hgene | C1QA | C0242380 | Libman-Sacks Disease | 1 | CTD_human |
Hgene | C1QA | C0268742 | Membranoproliferative Glomerulonephritis, Type I | 1 | CTD_human |
Hgene | C1QA | C0268743 | Membranoproliferative Glomerulonephritis, Type II | 1 | CTD_human |
Hgene | C1QA | C0272242 | Complement deficiency disease | 1 | GENOMICS_ENGLAND |
Hgene | C1QA | C1720821 | Membranoproliferative Glomerulonephritis, Type III | 1 | CTD_human |
Hgene | C1QA | C3150902 | C1q DEFICIENCY | 1 | CTD_human;GENOMICS_ENGLAND |
Hgene | C1QA | C3280742 | SYSTEMIC LUPUS ERYTHEMATOSUS 16 | 1 | ORPHANET |
Tgene | C0001430 | Adenoma | 2 | CTD_human | |
Tgene | C0205646 | Adenoma, Basal Cell | 2 | CTD_human | |
Tgene | C0205647 | Follicular adenoma | 2 | CTD_human | |
Tgene | C0205648 | Adenoma, Microcystic | 2 | CTD_human | |
Tgene | C0205649 | Adenoma, Monomorphic | 2 | CTD_human | |
Tgene | C0205650 | Papillary adenoma | 2 | CTD_human | |
Tgene | C0205651 | Adenoma, Trabecular | 2 | CTD_human | |
Tgene | C4747974 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD | 2 | GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0005586 | Bipolar Disorder | 1 | PSYGENET | |
Tgene | C0017162 | Gastroenteritis, Transmissible, of Swine | 1 | CTD_human | |
Tgene | C0020428 | Hyperaldosteronism | 1 | CTD_human | |
Tgene | C0020538 | Hypertensive disease | 1 | CTD_human | |
Tgene | C0027051 | Myocardial Infarction | 1 | CTD_human | |
Tgene | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human | |
Tgene | C0036572 | Seizures | 1 | GENOMICS_ENGLAND | |
Tgene | C0042594 | Vestibular Diseases | 1 | CTD_human | |
Tgene | C0151723 | Hypomagnesemia | 1 | GENOMICS_ENGLAND | |
Tgene | C0151744 | Myocardial Ischemia | 1 | CTD_human | |
Tgene | C1384514 | Conn Syndrome | 1 | CTD_human | |
Tgene | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND | |
Tgene | C4552839 | Hypomagnesemia, CTCAE | 1 | GENOMICS_ENGLAND |