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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:ATP1A1-NOTCH2 (FusionGDB2 ID:HG476TG4853)

Fusion Gene Summary for ATP1A1-NOTCH2

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP1A1-NOTCH2
Fusion gene ID: hg476tg4853
HgeneTgene
Gene symbol

ATP1A1

NOTCH2

Gene ID

476

4853

Gene nameATPase Na+/K+ transporting subunit alpha 1notch receptor 2
SynonymsCMT2DD|HOMGSMR2AGS2|HJCYS|hN2
Cytomap('ATP1A1')('NOTCH2')

1p13.1

1p12

Type of geneprotein-codingprotein-coding
Descriptionsodium/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 aneurogenic locus notch homolog protein 2Notch homolog 2notch 2
Modification date2020031320200329
UniProtAcc

P05023

Q04721

Ensembl transtripts involved in fusion geneENST00000295598, ENST00000369496, 
ENST00000537345, ENST00000491156, 
Fusion gene scores* DoF score16 X 18 X 7=201613 X 10 X 6=780
# samples 2314
** MAII scorelog2(23/2016*10)=-3.13178987255554
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/780*10)=-2.47804729680464
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP1A1 [Title/Abstract] AND NOTCH2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP1A1(116926746)-NOTCH2(120465401), # samples:3
Anticipated loss of major functional domain due to fusion event.ATP1A1-NOTCH2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
ATP1A1-NOTCH2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ATP1A1-NOTCH2 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
ATP1A1-NOTCH2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ATP1A1-NOTCH2 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneATP1A1

GO:0006883

cellular sodium ion homeostasis

10636900|19542013

HgeneATP1A1

GO:0030007

cellular potassium ion homeostasis

10636900|19542013

HgeneATP1A1

GO:0036376

sodium ion export across plasma membrane

10636900|19542013

HgeneATP1A1

GO:0071383

cellular response to steroid hormone stimulus

11546672

HgeneATP1A1

GO:0086009

membrane repolarization

19542013

HgeneATP1A1

GO:1903416

response to glycoside

11546672

HgeneATP1A1

GO:1990573

potassium ion import across plasma membrane

10636900|19542013

TgeneNOTCH2

GO:0007050

cell cycle arrest

11306509

TgeneNOTCH2

GO:0007219

Notch signaling pathway

11306509|25985737

TgeneNOTCH2

GO:0010629

negative regulation of gene expression

11306509

TgeneNOTCH2

GO:0010838

positive regulation of keratinocyte proliferation

18469519

TgeneNOTCH2

GO:0045967

negative regulation of growth rate

11306509

TgeneNOTCH2

GO:0046579

positive regulation of Ras protein signal transduction

11306509

TgeneNOTCH2

GO:0070374

positive regulation of ERK1 and ERK2 cascade

11306509

TgeneNOTCH2

GO:2000249

regulation of actin cytoskeleton reorganization

18469519



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
ChimerDB4BRCATCGA-A2-A0ST-01AATP1A1chr1

116926746

-NOTCH2chr1

120465401

-
ChimerDB4BRCATCGA-A2-A0ST-01AATP1A1chr1

116926746

+NOTCH2chr1

120465401

-


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Fusion Gene ORF analysis for ATP1A1-NOTCH2

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-5UTRENST00000295598ENST00000493703ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
5CDS-5UTRENST00000369496ENST00000493703ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
5CDS-5UTRENST00000537345ENST00000493703ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
5CDS-intronENST00000295598ENST00000602566ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
5CDS-intronENST00000369496ENST00000602566ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
5CDS-intronENST00000537345ENST00000602566ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
Frame-shiftENST00000295598ENST00000256646ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
Frame-shiftENST00000369496ENST00000256646ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
Frame-shiftENST00000537345ENST00000256646ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
intron-3CDSENST00000491156ENST00000256646ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
intron-5UTRENST00000491156ENST00000493703ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
intron-intronENST00000491156ENST00000602566ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-

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 ATP1A1-NOTCH2


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 ATP1A1-NOTCH2


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/:116926746/:120465401)
- 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
ATP1A1

P05023

NOTCH2

Q04721

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}.FUNCTION: Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus (PubMed:21378985, PubMed:21378989). Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). Involved in bone remodeling and homeostasis. In collaboration with RELA/p65 enhances NFATc1 promoter activity and positively regulates RANKL-induced osteoclast differentiation (PubMed:29149593). Positively regulates self-renewal of liver cancer cells (PubMed:25985737). {ECO:0000250|UniProtKB:O35516, ECO:0000269|PubMed:21378985, ECO:0000269|PubMed:21378989, ECO:0000269|PubMed:25985737, ECO:0000269|PubMed:29149593}.

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 ATP1A1-NOTCH2


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 ATP1A1-NOTCH2


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 ATP1A1-NOTCH2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneATP1A1P05023DB00390DigoxinInhibitorSmall moleculeApproved
HgeneATP1A1P05023DB00511AcetyldigitoxinInhibitorSmall moleculeApproved
HgeneATP1A1P05023DB01078DeslanosideInhibitorSmall moleculeApproved
HgeneATP1A1P05023DB01092OuabainInhibitorSmall moleculeApproved
HgeneATP1A1P05023DB01119DiazoxideOtherSmall moleculeApproved
HgeneATP1A1P05023DB01158BretyliumInhibitorSmall moleculeApproved
HgeneATP1A1P05023DB01430AlmitrineBinderSmall moleculeApproved
HgeneATP1A1P05023DB13996Magnesium acetateSmall moleculeApproved
HgeneATP1A1P05023DB14500PotassiumRegulatorSmall moleculeApproved|Experimental
HgeneATP1A1P05023DB00903Etacrynic acidInhibitorSmall moleculeApproved|Investigational
HgeneATP1A1P05023DB01188CiclopiroxBinderSmall moleculeApproved|Investigational
HgeneATP1A1P05023DB01345Potassium cationSmall moleculeApproved|Investigational
HgeneATP1A1P05023DB01370AluminiumBinderSmall moleculeApproved|Investigational
HgeneATP1A1P05023DB01396DigitoxinInhibitorSmall moleculeApproved|Investigational
HgeneATP1A1P05023DB14498Potassium acetateSmall moleculeApproved|Investigational
HgeneATP1A1P05023DB14499Potassium sulfateSmall moleculeApproved|Investigational
HgeneATP1A1P05023DB14517Aluminium phosphateSmall moleculeApproved|Investigational
HgeneATP1A1P05023DB14518Aluminum acetateSmall moleculeApproved|Investigational
HgeneATP1A1P05023DB00774HydroflumethiazideInducerSmall moleculeApproved|Investigational|Withdrawn
HgeneATP1A1P05023DB01378Magnesium cationSmall moleculeApproved|Nutraceutical
HgeneATP1A1P05023DB01021TrichlormethiazideInhibitorSmall moleculeApproved|Vet_approved
HgeneATP1A1P05023DB01244BepridilInhibitorSmall moleculeApproved|Withdrawn

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Related Diseases for ATP1A1-NOTCH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP1A1C0001430Adenoma2CTD_human
HgeneATP1A1C0205646Adenoma, Basal Cell2CTD_human
HgeneATP1A1C0205647Follicular adenoma2CTD_human
HgeneATP1A1C0205648Adenoma, Microcystic2CTD_human
HgeneATP1A1C0205649Adenoma, Monomorphic2CTD_human
HgeneATP1A1C0205650Papillary adenoma2CTD_human
HgeneATP1A1C0205651Adenoma, Trabecular2CTD_human
HgeneATP1A1C4747974CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD2GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneATP1A1C0005586Bipolar Disorder1PSYGENET
HgeneATP1A1C0017162Gastroenteritis, Transmissible, of Swine1CTD_human
HgeneATP1A1C0020428Hyperaldosteronism1CTD_human
HgeneATP1A1C0020538Hypertensive disease1CTD_human
HgeneATP1A1C0027051Myocardial Infarction1CTD_human
HgeneATP1A1C0027055Myocardial Reperfusion Injury1CTD_human
HgeneATP1A1C0036572Seizures1GENOMICS_ENGLAND
HgeneATP1A1C0042594Vestibular Diseases1CTD_human
HgeneATP1A1C0151723Hypomagnesemia1GENOMICS_ENGLAND
HgeneATP1A1C0151744Myocardial Ischemia1CTD_human
HgeneATP1A1C1384514Conn Syndrome1CTD_human
HgeneATP1A1C3714756Intellectual Disability1GENOMICS_ENGLAND
HgeneATP1A1C4552839Hypomagnesemia, CTCAE1GENOMICS_ENGLAND
TgeneC1857761Alagille Syndrome 25CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0917715Hajdu-Cheney Syndrome4CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0004114Astrocytoma1CTD_human
TgeneC0006142Malignant neoplasm of breast1CGI;CTD_human
TgeneC0007114Malignant neoplasm of skin1CTD_human
TgeneC0007137Squamous cell carcinoma1CTD_human
TgeneC0007873Uterine Cervical Neoplasm1CTD_human
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC0017636Glioblastoma1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0037286Skin Neoplasms1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0205768Subependymal Giant Cell Astrocytoma1CTD_human
TgeneC0206663Neuroectodermal Tumor, Primitive1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneC0280783Juvenile Pilocytic Astrocytoma1CTD_human
TgeneC0280785Diffuse Astrocytoma1CTD_human
TgeneC0334579Anaplastic astrocytoma1CTD_human
TgeneC0334580Protoplasmic astrocytoma1CTD_human
TgeneC0334581Gemistocytic astrocytoma1CTD_human
TgeneC0334582Fibrillary Astrocytoma1CTD_human
TgeneC0334583Pilocytic Astrocytoma1CTD_human
TgeneC0334584Spongioblastoma1CTD_human
TgeneC0334588Giant Cell Glioblastoma1CTD_human
TgeneC0334596Medulloepithelioma1CTD_human
TgeneC0338070Childhood Cerebral Astrocytoma1CTD_human
TgeneC0547065Mixed oligoastrocytoma1CTD_human
TgeneC0678222Breast Carcinoma1CGI;CTD_human
TgeneC0700367Ependymoblastoma1CTD_human
TgeneC0750935Cerebral Astrocytoma1CTD_human
TgeneC0750936Intracranial Astrocytoma1CTD_human
TgeneC0751675Cerebral Primitive Neuroectodermal Tumor1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1621958Glioblastoma Multiforme1CTD_human
TgeneC1704230Grade I Astrocytoma1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC2930967Gastro-enteropancreatic neuroendocrine tumor1CTD_human
TgeneC2930971Acroosteolysis dominant type1ORPHANET
TgeneC4048328cervical cancer1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human