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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 3297

FusionGeneSummary for ATP1A1_NOTCH2

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP1A1_NOTCH2
Fusion gene ID: 3297
HgeneTgene
Gene symbol

ATP1A1

NOTCH2

Gene ID

480

4853

Gene nameATPase Na+/K+ transporting subunit alpha 4notch 2
SynonymsATP1A1|ATP1AL2AGS2|HJCYS|hN2
Cytomap

1q23.2

1p12

Type of geneprotein-codingprotein-coding
Descriptionsodium/potassium-transporting ATPase subunit alpha-4ATPase, Na+/K+ transporting, alpha 4 polypeptideATPase, Na+/K+ transporting, alpha polypeptide-like 2Na(+)/K(+) ATPase alpha-4 subunitNa+/K+ ATPase 4Na+/K+ ATPase, alpha-D polypeptideNa,K-ATPase suneurogenic locus notch homolog protein 2Notch homolog 2
Modification date2018052320180519
UniProtAcc

P05023

Q04721

Ensembl transtripts involved in fusion geneENST00000295598, ENST00000537345, 
ENST00000369496, ENST00000491156, 
ENST00000256646, ENST00000602566, 
ENST00000493703, 
Fusion gene scores* DoF score15 X 20 X 7=21009 X 7 X 3=189
# samples 259
** MAII scorelog2(25/2100*10)=-3.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/189*10)=-1.0703893278914
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]

Functional or gene categories assigned by FusionGDB annotation
* 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:0030317

flagellated sperm motility

12112599

HgeneATP1A1

GO:0030641

regulation of cellular pH

12112599

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: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


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBRCATCGA-A2-A0ST-01AATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
Frame-shitENST00000295598ENST00000256646ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
5CDS-intronENST00000295598ENST00000602566ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
5CDS-5UTRENST00000295598ENST00000493703ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
Frame-shitENST00000537345ENST00000256646ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
5CDS-intronENST00000537345ENST00000602566ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
5CDS-5UTRENST00000537345ENST00000493703ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
Frame-shitENST00000369496ENST00000256646ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
5CDS-intronENST00000369496ENST00000602566ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
5CDS-5UTRENST00000369496ENST00000493703ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
intron-3CDSENST00000491156ENST00000256646ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
intron-intronENST00000491156ENST00000602566ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-
intron-5UTRENST00000491156ENST00000493703ATP1A1chr1

116926746

+NOTCH2chr1

120465401

-

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FusionProtFeatures for ATP1A1_NOTCH2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP1A1

P05023

NOTCH2

Q04721

Functions as a receptor for membrane-bound ligandsJagged1, Jagged2 and Delta1 to regulate cell-fate determination.Upon ligand activation through the released notch intracellulardomain (NICD) it forms a transcriptional activator complex withRBPJ/RBPSUH and activates genes of the enhancer of split locus.Affects the implementation of differentiation, proliferation andapoptotic programs (By similarity). Involved in bone remodelingand homeostasis. In collaboration with RELA/p65 enhances NFATc1promoter activity and positively regulates RANKL-inducedosteoclast differentiation (PubMed:29149593). Positively regulatesself-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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FusionGeneSequence for ATP1A1_NOTCH2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
ATP1A1PRKCA, MAPK1, MAPK3, FXYD1, EZH2, HGS, HDAC5, NDRG1, CDK9, NELFB, NELFCD, NELFA, SIRT7, FBXO25, CUL3, CDK2, AKT1, A2M, PKD1, PKD2, ATF2, IQCB1, MMS19, CLN3, ADRB2, ATP4A, DYRK4, HIPK4, MAPK4, CDK20, EGFR, FBXO6, LGR4, UBC, STAU1, SPRTN, HUWE1, AP2A2, CUL7, CCDC8, ZNRF1, ZNRF2, ILK, IRAK1, LIMK2, PPT1, RPS6KB2, LGALS3, ACADM, AFG3L2, ATP1B1, ATP1B2, ATP1B3, ATP2B1, ATP2B4, ATP6V0D1, CCT6A, CCT8, CLTC, CLTCL1, HADHB, HSD17B12, LMAN1, MTCH1, MTCH2, NDUFS1, PPP2R1A, RAB1A, RAB1B, RAB2A, TPM3, ATP5C1, ATP5L, ATP6V1A, CAD, CCT7, CYB5B, CYC1, DDOST, EIF3B, IPO5, ITGA5, MRPL40, NDUFB8, NDUFS4, NDUFV1, PC, PHB, RPN1, SLC25A3, SSR2, TECR, TMCO1, TMED2, TPM4, UQCRC2, UQCRQ, VDAC1, VDAC2, VDAC3, NTRK1, TCTN3, TMEM17, AHSA1, ERBB2, NCSTN, GOLT1B, TMEM63B, YIPF5, TUBA1C, MBOAT1, KIAA0368, SKI, CRY2, ESRRB, C3orf17, ZNF746, CYLD, NCDN, COX15, PDHA1, SDHA, SOD1NOTCH2CNTN1, GSK3B, JAG1, DLL1, RBPJ, MAML1, JAG2, CRKL, MYOC, SPEN, NDUFV2, NDUFV1, SEC24C, PCMT1, PSMB1, TJP1, SIN3A, PLAUR, NOTCH1, SMAD1, EGFL7, ANKRD28, LATS2, ASB14, ANKRD44, RABGGTB, ZFP41, EEF2, MLLT4, ATP2A2, CDC42, MSN, RDX, PDIA6, CST6, EPSTI1, FAM84B, IL13RA2, IL24, ITIH5, KLK5, MTA3, PSMC3IP, ST14, TMEM17, FBXL17, CDH1, VASN, LRRIQ1, AGRP


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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RelatedDrugs for ATP1A1_NOTCH2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneATP1A1P05023DB00390DigoxinSodium/potassium-transporting ATPase subunit alpha-1small moleculeapproved
HgeneATP1A1P05023DB00511AcetyldigitoxinSodium/potassium-transporting ATPase subunit alpha-1small moleculeapproved
HgeneATP1A1P05023DB01078DeslanosideSodium/potassium-transporting ATPase subunit alpha-1small moleculeapproved
HgeneATP1A1P05023DB01092OuabainSodium/potassium-transporting ATPase subunit alpha-1small moleculeapproved
HgeneATP1A1P05023DB01119DiazoxideSodium/potassium-transporting ATPase subunit alpha-1small moleculeapproved
HgeneATP1A1P05023DB01430AlmitrineSodium/potassium-transporting ATPase subunit alpha-1small moleculeapproved
HgeneATP1A1P05023DB00774HydroflumethiazideSodium/potassium-transporting ATPase subunit alpha-1small moleculeapproved|investigational
HgeneATP1A1P05023DB00903Etacrynic acidSodium/potassium-transporting ATPase subunit alpha-1small moleculeapproved|investigational
HgeneATP1A1P05023DB01188CiclopiroxSodium/potassium-transporting ATPase subunit alpha-1small moleculeapproved|investigational
HgeneATP1A1P05023DB01345PotassiumSodium/potassium-transporting ATPase subunit alpha-1small moleculeapproved|investigational
HgeneATP1A1P05023DB01370AluminiumSodium/potassium-transporting ATPase subunit alpha-1small moleculeapproved|investigational
HgeneATP1A1P05023DB01396DigitoxinSodium/potassium-transporting ATPase subunit alpha-1small moleculeapproved|investigational
HgeneATP1A1P05023DB01378MagnesiumSodium/potassium-transporting ATPase subunit alpha-1small moleculeapproved|nutraceutical
HgeneATP1A1P05023DB01021TrichlormethiazideSodium/potassium-transporting ATPase subunit alpha-1small moleculeapproved|vet_approved
HgeneATP1A1P05023DB01244BepridilSodium/potassium-transporting ATPase subunit alpha-1small moleculeapproved|withdrawn

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RelatedDiseases for ATP1A1_NOTCH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP1A1C0001430Adenoma2CTD_human
HgeneATP1A1C0005586Bipolar Disorder1PSYGENET
HgeneATP1A1C0020428Hyperaldosteronism1CTD_human
HgeneATP1A1C0020538Hypertensive disease1CTD_human
HgeneATP1A1C0042594Vestibular Diseases1CTD_human
HgeneATP1A1C0151744Myocardial Ischemia1CTD_human
TgeneNOTCH2C0917715Hajdu-Cheney Syndrome2CTD_human;ORPHANET
TgeneNOTCH2C0004114Astrocytoma1CTD_human
TgeneNOTCH2C0007873Uterine Cervical Neoplasm1CTD_human
TgeneNOTCH2C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneNOTCH2C0017636Glioblastoma1CTD_human
TgeneNOTCH2C0024121Lung Neoplasms1CTD_human
TgeneNOTCH2C0206663Neuroectodermal Tumor, Primitive1CTD_human
TgeneNOTCH2C0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneNOTCH2C1458155Mammary Neoplasms1CTD_human
TgeneNOTCH2C1857761Alagille Syndrome 21ORPHANET;UNIPROT