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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:MAPK1-ATP1A1 (FusionGDB2 ID:HG5594TG476)

Fusion Gene Summary for MAPK1-ATP1A1

check button Fusion gene summary
Fusion gene informationFusion gene name: MAPK1-ATP1A1
Fusion gene ID: hg5594tg476
HgeneTgene
Gene symbol

MAPK1

ATP1A1

Gene ID

5594

476

Gene namemitogen-activated protein kinase 1ATPase Na+/K+ transporting subunit alpha 1
SynonymsERK|ERK-2|ERK2|ERT1|MAPK2|P42MAPK|PRKM1|PRKM2|p38|p40|p41|p41mapk|p42-MAPKCMT2DD|HOMGSMR2
Cytomap('MAPK1')('ATP1A1')

22q11.22

1p13.1

Type of geneprotein-codingprotein-coding
Descriptionmitogen-activated protein kinase 1MAP kinase 1MAP kinase 2MAP kinase isoform p42MAPK 2extracellular signal-regulated kinase 2mitogen-activated protein kinase 2protein tyrosine kinase ERK2sodium/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 date2020032720200313
UniProtAcc.

P05023

Ensembl transtripts involved in fusion geneENST00000215832, ENST00000398822, 
ENST00000491588, ENST00000544786, 
Fusion gene scores* DoF score20 X 16 X 10=320019 X 23 X 5=2185
# samples 2424
** MAII scorelog2(24/3200*10)=-3.73696559416621
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: MAPK1 [Title/Abstract] AND ATP1A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMAPK1(22115665)-ATP1A1(116941300), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneMAPK1

GO:0006468

protein phosphorylation

23184662

HgeneMAPK1

GO:0010800

positive regulation of peptidyl-threonine phosphorylation

16314496

HgeneMAPK1

GO:0018105

peptidyl-serine phosphorylation

15850461

HgeneMAPK1

GO:0034198

cellular response to amino acid starvation

11096076

HgeneMAPK1

GO:0038127

ERBB signaling pathway

15133037

HgeneMAPK1

GO:0051403

stress-activated MAPK cascade

11096076

HgeneMAPK1

GO:0070371

ERK1 and ERK2 cascade

16314496

HgeneMAPK1

GO:0070849

response to epidermal growth factor

18794356

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


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Fusion Gene ORF analysis for MAPK1-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

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 MAPK1-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 MAPK1-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/:22115665/:116941300)
- 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

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}.

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 MAPK1-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 MAPK1-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 MAPK1-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
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 MAPK1-ATP1A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMAPK1C0009171Cocaine Abuse2CTD_human
HgeneMAPK1C0020429Hyperalgesia2CTD_human
HgeneMAPK1C0024121Lung Neoplasms2CTD_human
HgeneMAPK1C0236736Cocaine-Related Disorders2CTD_human
HgeneMAPK1C0242379Malignant neoplasm of lung2CTD_human
HgeneMAPK1C0458247Allodynia2CTD_human
HgeneMAPK1C0600427Cocaine Dependence2CTD_human
HgeneMAPK1C0751211Hyperalgesia, Primary2CTD_human
HgeneMAPK1C0751212Hyperalgesia, Secondary2CTD_human
HgeneMAPK1C0751213Tactile Allodynia2CTD_human
HgeneMAPK1C0751214Hyperalgesia, Thermal2CTD_human
HgeneMAPK1C2936719Mechanical Allodynia2CTD_human
HgeneMAPK1C0005398Cholestasis, Extrahepatic1CTD_human
HgeneMAPK1C0005586Bipolar Disorder1PSYGENET
HgeneMAPK1C0007137Squamous cell carcinoma1CTD_human
HgeneMAPK1C0007786Brain Ischemia1CTD_human
HgeneMAPK1C0017639Gliosis1CTD_human
HgeneMAPK1C0018671Head and Neck Neoplasms1CTD_human
HgeneMAPK1C0018675Head Neoplasms1CTD_human
HgeneMAPK1C0019207Hepatoma, Morris1CTD_human
HgeneMAPK1C0019208Hepatoma, Novikoff1CTD_human
HgeneMAPK1C0020564Hypertrophy1CTD_human
HgeneMAPK1C0021361Female infertility1CTD_human
HgeneMAPK1C0022665Kidney Neoplasm1CTD_human
HgeneMAPK1C0023904Liver Neoplasms, Experimental1CTD_human
HgeneMAPK1C0024623Malignant neoplasm of stomach1CTD_human
HgeneMAPK1C0027533Neck Neoplasms1CTD_human
HgeneMAPK1C0027626Neoplasm Invasiveness1CTD_human
HgeneMAPK1C0027627Neoplasm Metastasis1CTD_human
HgeneMAPK1C0027746Nerve Degeneration1CTD_human
HgeneMAPK1C0033141Cardiomyopathies, Primary1CTD_human
HgeneMAPK1C0034189Pyemia1CTD_human
HgeneMAPK1C0036341Schizophrenia1PSYGENET
HgeneMAPK1C0036529Myocardial Diseases, Secondary1CTD_human
HgeneMAPK1C0036690Septicemia1CTD_human
HgeneMAPK1C0036920Sezary Syndrome1CTD_human
HgeneMAPK1C0038279Sterility, Postpartum1CTD_human
HgeneMAPK1C0038356Stomach Neoplasms1CTD_human
HgeneMAPK1C0038587Substance Withdrawal Syndrome1CTD_human
HgeneMAPK1C0040997Trigeminal Neuralgia1CTD_human
HgeneMAPK1C0086189Drug Withdrawal Symptoms1CTD_human
HgeneMAPK1C0086404Experimental Hepatoma1CTD_human
HgeneMAPK1C0087031Juvenile-Onset Still Disease1CTD_human
HgeneMAPK1C0087169Withdrawal Symptoms1CTD_human
HgeneMAPK1C0155862Streptococcal pneumonia1CTD_human
HgeneMAPK1C0178417Anhedonia1PSYGENET
HgeneMAPK1C0243026Sepsis1CTD_human
HgeneMAPK1C0278996Malignant Head and Neck Neoplasm1CTD_human
HgeneMAPK1C0341869Subfertility, Female1CTD_human
HgeneMAPK1C0393786Trigeminal Neuralgia, Idiopathic1CTD_human
HgeneMAPK1C0393787Secondary Trigeminal Neuralgia1CTD_human
HgeneMAPK1C0740457Malignant neoplasm of kidney1CTD_human
HgeneMAPK1C0746787Cancer of Neck1CTD_human
HgeneMAPK1C0751177Cancer of Head1CTD_human
HgeneMAPK1C0878544Cardiomyopathies1CTD_human
HgeneMAPK1C0887900Upper Aerodigestive Tract Neoplasms1CTD_human
HgeneMAPK1C0917730Female sterility1CTD_human
HgeneMAPK1C0917798Cerebral Ischemia1CTD_human
HgeneMAPK1C0919267ovarian neoplasm1CTD_human
HgeneMAPK1C1140680Malignant neoplasm of ovary1CTD_human
HgeneMAPK1C1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneMAPK1C1719672Severe Sepsis1CTD_human
HgeneMAPK1C1866282CEROID LIPOFUSCINOSIS, NEURONAL, 61CTD_human
HgeneMAPK1C3495559Juvenile arthritis1CTD_human
HgeneMAPK1C3714758Juvenile psoriatic arthritis1CTD_human
HgeneMAPK1C3887640Astrocytosis1CTD_human
HgeneMAPK1C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneMAPK1C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
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