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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:VANGL1-ATP1A1 (FusionGDB2 ID:HG81839TG476) |
Fusion Gene Summary for VANGL1-ATP1A1 |
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Fusion gene information | Fusion gene name: VANGL1-ATP1A1 | Fusion gene ID: hg81839tg476 | Hgene | Tgene | Gene symbol | VANGL1 | ATP1A1 | Gene ID | 81839 | 476 |
Gene name | VANGL planar cell polarity protein 1 | ATPase Na+/K+ transporting subunit alpha 1 | |
Synonyms | KITENIN|LPP2|STB2|STBM2 | CMT2DD|HOMGSMR2 | |
Cytomap | ('VANGL1')('ATP1A1') 1p13.1 | 1p13.1 | |
Type of gene | protein-coding | protein-coding | |
Description | vang-like protein 1KAI1 C-terminal interacting tetraspaninloop-tail protein 2 homologstrabismus 2van Gogh-like protein 1vang-like 1 (van gogh, Drosophila) | 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 | 20200322 | 20200313 | |
UniProtAcc | . | P05023 | |
Ensembl transtripts involved in fusion gene | ENST00000310260, ENST00000355485, ENST00000369509, ENST00000369510, ENST00000474344, | ENST00000474344, ENST00000310260, ENST00000355485, ENST00000369509, ENST00000369510, | |
Fusion gene scores | * DoF score | 5 X 5 X 3=75 | 19 X 23 X 5=2185 |
# samples | 5 | 24 | |
** MAII score | log2(5/75*10)=-0.584962500721156 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: VANGL1 [Title/Abstract] AND ATP1A1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | VANGL1(116213768)-ATP1A1(116926636), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | ATP1A1-VANGL1 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. ATP1A1-VANGL1 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. ATP1A1-VANGL1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. ATP1A1-VANGL1 seems lost the major protein functional domain in Hgene 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 | BRCA | TCGA-AN-A0FK-01A | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
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Fusion Gene ORF analysis for VANGL1-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 |
intron-3CDS | ENST00000310260 | ENST00000295598 | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
intron-3CDS | ENST00000310260 | ENST00000537345 | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
intron-3CDS | ENST00000355485 | ENST00000295598 | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
intron-3CDS | ENST00000355485 | ENST00000537345 | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
intron-3CDS | ENST00000369509 | ENST00000295598 | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
intron-3CDS | ENST00000369509 | ENST00000537345 | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
intron-3CDS | ENST00000369510 | ENST00000295598 | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
intron-3CDS | ENST00000369510 | ENST00000537345 | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
intron-3CDS | ENST00000474344 | ENST00000295598 | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
intron-3CDS | ENST00000474344 | ENST00000537345 | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
intron-5UTR | ENST00000310260 | ENST00000369496 | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
intron-5UTR | ENST00000355485 | ENST00000369496 | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
intron-5UTR | ENST00000369509 | ENST00000369496 | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
intron-5UTR | ENST00000369510 | ENST00000369496 | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
intron-5UTR | ENST00000474344 | ENST00000369496 | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
intron-intron | ENST00000310260 | ENST00000491156 | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
intron-intron | ENST00000355485 | ENST00000491156 | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
intron-intron | ENST00000369509 | ENST00000491156 | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
intron-intron | ENST00000369510 | ENST00000491156 | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
intron-intron | ENST00000474344 | ENST00000491156 | VANGL1 | chr1 | 116213768 | + | ATP1A1 | chr1 | 116926636 | + |
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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 VANGL1-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 VANGL1-ATP1A1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:116213768/:116926636) - 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 |
. | ATP1A1 |
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: 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 VANGL1-ATP1A1 |
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Fusion Gene PPI Analysis for VANGL1-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 VANGL1-ATP1A1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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 VANGL1-ATP1A1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | VANGL1 | C0011999 | Diastematomyelia | 2 | CTD_human |
Hgene | VANGL1 | C0027794 | Neural Tube Defects | 2 | CTD_human;GENOMICS_ENGLAND |
Hgene | VANGL1 | C0027806 | Neurenteric Cyst | 2 | CTD_human |
Hgene | VANGL1 | C0080218 | Tethered Cord Syndrome | 2 | CTD_human |
Hgene | VANGL1 | C0152234 | Iniencephaly | 2 | CTD_human |
Hgene | VANGL1 | C0152426 | Craniorachischisis | 2 | CTD_human |
Hgene | VANGL1 | C0266453 | Exencephaly | 2 | CTD_human |
Hgene | VANGL1 | C0344479 | Spinal Cord Myelodysplasia | 2 | CTD_human |
Hgene | VANGL1 | C0702169 | Acrania | 2 | CTD_human |
Hgene | VANGL1 | C1960883 | Spina bifida aperta of cervical spine | 2 | ORPHANET |
Hgene | VANGL1 | C3891448 | NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO | 2 | GENOMICS_ENGLAND;UNIPROT |
Hgene | VANGL1 | C0300948 | Caudal Regression Syndrome | 1 | GENOMICS_ENGLAND;ORPHANET |
Hgene | VANGL1 | C0344490 | Sacral agenesis | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | VANGL1 | C1838568 | Sacral defect and anterior sacral meningocele | 1 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | VANGL1 | C1867774 | Sacral Agenesis Syndrome | 1 | ORPHANET |
Hgene | VANGL1 | C2609260 | Caudal dysplasia syndrome | 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 |