MAPK1
mitogen-activated protein kinase 1, the group of Mitogen-activated protein kinases
Basic information
Region (hg38): 22:21759656-21867680
Previous symbols: [ "PRKM2", "PRKM1" ]
Links
Phenotypes
GenCC
Source:
- Noonan syndrome 13 (Strong), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Noonan syndrome 13 | AD | Cardiovascular; Hematologic | Among other findings, the condition can include congenital heart anomalies such as valvular abnormalities, and awareness may allow early diagnosis and management; Bleeding diathesis has been described, and awareness may allow preventative measures and early management of acute and chronic hematologic issues | Cardiovascular; Dental; Craniofacial; Hematologic; Musculoskeletal; Neurologic | 32721402 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (23 variants)
- Noonan syndrome 13 (7 variants)
- 6 conditions (4 variants)
- not specified (2 variants)
- Specific learning disability;Heart, malformation of;Atypical behavior;Intellectual disability;Abnormal facial shape (2 variants)
- Inborn genetic diseases (2 variants)
- MAPK1-related condition (2 variants)
- Specific learning disability;Heart, malformation of;Atypical behavior;Abnormal facial shape;Macrocephaly (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAPK1 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 7 | |||||
| missense | 13 | 23 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 2 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region ? | 1 | 1 | ||||
| non coding ? | 0 | |||||
| Total | 7 | 3 | 15 | 4 | 3 |
Highest pathogenic variant AF is 0.0000197
Variants in MAPK1
This is a list of pathogenic ClinVar variants found in the MAPK1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 22-21769216-T-C | Uncertain significance (Apr 04, 2022) | |||
| 22-21769233-C-A | Uncertain significance (Jun 15, 2022) | |||
| 22-21769300-G-C | Uncertain significance (Apr 27, 2023) | |||
| 22-21769319-G-C | 6 conditions | Pathogenic (Apr 01, 2020) | ||
| 22-21772875-C-G | 6 conditions | Pathogenic (May 02, 2023) | ||
| 22-21772875-C-T | Neoplasm of uterine cervix • Squamous cell carcinoma of the head and neck • Transitional cell carcinoma of the bladder | Likely pathogenic (May 31, 2016) | ||
| 22-21772876-G-A | Benign (Dec 31, 2019) | |||
| 22-21772880-C-A | Uncertain significance (Jan 05, 2022) | |||
| 22-21772882-C-T | MAPK1-related disorder | Likely benign (Aug 23, 2021) | ||
| 22-21772883-G-A | Uncertain significance (Feb 11, 2022) | |||
| 22-21772886-T-C | Noonan syndrome 13 • Specific learning disability;Heart, malformation of;Atypical behavior;Intellectual disability;Abnormal facial shape | Pathogenic (May 20, 2022) | ||
| 22-21772887-C-T | Specific learning disability;Heart, malformation of;Atypical behavior;Intellectual disability;Abnormal facial shape • Noonan syndrome 13 | Pathogenic (Apr 01, 2020) | ||
| 22-21772888-G-A | MAPK1-related disorder | Likely benign (Apr 09, 2023) | ||
| 22-21772893-A-G | Noonan syndrome 13 | Likely pathogenic (Nov 24, 2021) | ||
| 22-21772925-T-C | Uncertain significance (Jul 26, 2019) | |||
| 22-21772951-G-A | Likely benign (May 01, 2023) | |||
| 22-21772971-A-G | MAPK1-related disorder | Likely benign (Apr 01, 2024) | ||
| 22-21788323-A-G | Likely benign (Nov 01, 2023) | |||
| 22-21788350-T-C | Noonan syndrome 13 | Likely pathogenic (Oct 05, 2021) | ||
| 22-21788392-T-C | MAPK1-related disorder | Uncertain significance (Sep 07, 2022) | ||
| 22-21788739-T-C | not specified | Uncertain significance (Sep 15, 2023) | ||
| 22-21788817-G-A | MAPK1-related disorder | Likely benign (Aug 23, 2022) | ||
| 22-21799096-A-T | Uncertain significance (Feb 27, 2023) | |||
| 22-21799100-G-A | Noonan syndrome 13 • Macrocephaly;Atypical behavior;Heart, malformation of;Abnormal facial shape;Specific learning disability | Pathogenic (Dec 30, 2021) | ||
| 22-21805852-T-G | Inborn genetic diseases | Uncertain significance (May 09, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MAPK1 | protein_coding | protein_coding | ENST00000215832 | 8 | 113182 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.997 | 0.00302 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.61 | 48 | 187 | 0.257 | 0.00000942 | 2386 |
| Missense in Polyphen | 7 | 72.923 | 0.095991 | 918 | ||
| Synonymous | -0.488 | 71 | 66.0 | 1.08 | 0.00000325 | 651 |
| Loss of Function | 3.83 | 0 | 17.1 | 0.00 | 8.32e-7 | 222 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays also a role in initiation and regulation of meiosis, mitosis, and postmitotic functions in differentiated cells by phosphorylating a number of transcription factors. About 160 substrates have already been discovered for ERKs. Many of these substrates are localized in the nucleus, and seem to participate in the regulation of transcription upon stimulation. However, other substrates are found in the cytosol as well as in other cellular organelles, and those are responsible for processes such as translation, mitosis and apoptosis. Moreover, the MAPK/ERK cascade is also involved in the regulation of the endosomal dynamics, including lysosome processing and endosome cycling through the perinuclear recycling compartment (PNRC); as well as in the fragmentation of the Golgi apparatus during mitosis. The substrates include transcription factors (such as ATF2, BCL6, ELK1, ERF, FOS, HSF4 or SPZ1), cytoskeletal elements (such as CANX, CTTN, GJA1, MAP2, MAPT, PXN, SORBS3 or STMN1), regulators of apoptosis (such as BAD, BTG2, CASP9, DAPK1, IER3, MCL1 or PPARG), regulators of translation (such as EIF4EBP1) and a variety of other signaling-related molecules (like ARHGEF2, DCC, FRS2 or GRB10). Protein kinases (such as RAF1, RPS6KA1/RSK1, RPS6KA3/RSK2, RPS6KA2/RSK3, RPS6KA6/RSK4, SYK, MKNK1/MNK1, MKNK2/MNK2, RPS6KA5/MSK1, RPS6KA4/MSK2, MAPKAPK3 or MAPKAPK5) and phosphatases (such as DUSP1, DUSP4, DUSP6 or DUSP16) are other substrates which enable the propagation the MAPK/ERK signal to additional cytosolic and nuclear targets, thereby extending the specificity of the cascade. Mediates phosphorylation of TPR in respons to EGF stimulation. May play a role in the spindle assembly checkpoint. Phosphorylates PML and promotes its interaction with PIN1, leading to PML degradation. Phosphorylates CDK2AP2 (By similarity). {ECO:0000250|UniProtKB:P63086, ECO:0000269|PubMed:10617468, ECO:0000269|PubMed:10637505, ECO:0000269|PubMed:11154262, ECO:0000269|PubMed:12110590, ECO:0000269|PubMed:12356731, ECO:0000269|PubMed:12792650, ECO:0000269|PubMed:12794087, ECO:0000269|PubMed:12974390, ECO:0000269|PubMed:15184391, ECO:0000269|PubMed:15241487, ECO:0000269|PubMed:15616583, ECO:0000269|PubMed:15664191, ECO:0000269|PubMed:15788397, ECO:0000269|PubMed:15952796, ECO:0000269|PubMed:16581800, ECO:0000269|PubMed:18794356, ECO:0000269|PubMed:19265199, ECO:0000269|PubMed:19879846, ECO:0000269|PubMed:22033920, ECO:0000269|PubMed:7588608, ECO:0000269|PubMed:8622688, ECO:0000269|PubMed:9480836, ECO:0000269|PubMed:9596579, ECO:0000269|PubMed:9649500, ECO:0000269|PubMed:9687510, ECO:0000303|PubMed:15526160, ECO:0000303|PubMed:16393692, ECO:0000303|PubMed:19565474, ECO:0000303|PubMed:21779493}.;
- Pathway
- Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics;Prion diseases - Homo sapiens (human);PI3K-Akt signaling pathway - Homo sapiens (human);Non-small cell lung cancer - Homo sapiens (human);Platelet activation - Homo sapiens (human);Chronic myeloid leukemia - Homo sapiens (human);Gastric cancer - Homo sapiens (human);Focal adhesion - Homo sapiens (human);mTOR signaling pathway - Homo sapiens (human);Relaxin signaling pathway - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);T cell receptor signaling pathway - Homo sapiens (human);B cell receptor signaling pathway - Homo sapiens (human);Fc epsilon RI signaling pathway - Homo sapiens (human);Fc gamma R-mediated phagocytosis - Homo sapiens (human);Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);TGF-beta signaling pathway - Homo sapiens (human);Pertussis - Homo sapiens (human);Salmonella infection - Homo sapiens (human);Renal cell carcinoma - Homo sapiens (human);VEGF signaling pathway - Homo sapiens (human);Long-term potentiation - Homo sapiens (human);Retrograde endocannabinoid signaling - Homo sapiens (human);Neurotrophin signaling pathway - Homo sapiens (human);Central carbon metabolism in cancer - Homo sapiens (human);Choline metabolism in cancer - Homo sapiens (human);Serotonergic synapse - Homo sapiens (human);Adherens junction - Homo sapiens (human);Melanoma - Homo sapiens (human);Glutamatergic synapse - Homo sapiens (human);Type II diabetes mellitus - Homo sapiens (human);AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human);Cushing,s syndrome - Homo sapiens (human);Bladder cancer - Homo sapiens (human);Oocyte meiosis - Homo sapiens (human);HIF-1 signaling pathway - Homo sapiens (human);Long-term depression - Homo sapiens (human);Influenza A - Homo sapiens (human);Acute myeloid leukemia - Homo sapiens (human);GnRH signaling pathway - Homo sapiens (human);Breast cancer - Homo sapiens (human);ErbB signaling pathway - Homo sapiens (human);Autophagy - animal - Homo sapiens (human);Alzheimer,s disease - Homo sapiens (human);Gap junction - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);TNF signaling pathway - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);Circadian entrainment - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Axon guidance - Homo sapiens (human);Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Glioma - Homo sapiens (human);Thyroid hormone signaling pathway - Homo sapiens (human);Adrenergic signaling in cardiomyocytes - Homo sapiens (human);Prostate cancer - Homo sapiens (human);Chagas disease (American trypanosomiasis) - Homo sapiens (human);Toll-like receptor signaling pathway - Homo sapiens (human);NOD-like receptor signaling pathway - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Apelin signaling pathway - Homo sapiens (human);Estrogen signaling pathway - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);C-type lectin receptor signaling pathway - Homo sapiens (human);Aldosterone-regulated sodium reabsorption - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Th17 cell differentiation - Homo sapiens (human);Th1 and Th2 cell differentiation - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Leishmaniasis - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Toxoplasmosis - Homo sapiens (human);Sphingolipid signaling pathway - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Shigellosis - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Prolactin signaling pathway - Homo sapiens (human);MicroRNAs in cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Apoptosis - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Cholinergic synapse - Homo sapiens (human);Thyroid cancer - Homo sapiens (human);Pancreatic cancer - Homo sapiens (human);Endometrial cancer - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Alcoholism - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Melanogenesis - Homo sapiens (human);EGFR Inhibitor Pathway, Pharmacodynamics;Human papillomavirus infection - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Pathway_PA165959425;Sorafenib Pharmacodynamics;Vemurafenib Pathway, Pharmacodynamics;update your name in edit mode;Diuretics Pathway, Pharmacodynamics;ACE Inhibitor Pathway, Pharmacodynamics;Beta-agonist/Beta-blocker Pathway, Pharmacodynamics;VEGF Signaling Pathway;Intracellular Signalling Through Adenosine Receptor A2b and Adenosine;Intracellular Signalling Through Adenosine Receptor A2a and Adenosine;Fc Epsilon Receptor I Signaling in Mast Cells;Insulin Signalling;EGF-Core;TGF-Core;IL-5 Signaling Pathway;Osteopontin Signaling;Regulation of toll-like receptor signaling pathway;Physiological and Pathological Hypertrophy of the Heart;Angiogenesis;MicroRNAs in cardiomyocyte hypertrophy;Type II diabetes mellitus;Heart Development;IL-1 signaling pathway;Integrated Breast Cancer Pathway;Angiogenesis overview;RANKL-RANK (Receptor activator of NFKB (ligand)) Signaling Pathway;Integrin-mediated Cell Adhesion;Leptin signaling pathway;Human Thyroid Stimulating Hormone (TSH) signaling pathway;Follicle Stimulating Hormone (FSH) signaling pathway;TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway;Prolactin Signaling Pathway;IL-7 Signaling Pathway;Alzheimers Disease;IL17 signaling pathway;Endothelin Pathways;IL-9 Signaling Pathway;Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway;Signaling Pathways in Glioblastoma;Androgen Receptor Network in Prostate Cancer;B Cell Receptor Signaling Pathway;TNF alpha Signaling Pathway;AGE-RAGE pathway;Interleukin-11 Signaling Pathway;Corticotropin-releasing hormone signaling pathway;Oncostatin M Signaling Pathway;Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;Spinal Cord Injury;Alpha 6 Beta 4 signaling pathway;PDGF Pathway;Aryl Hydrocarbon Receptor;Nifedipine Activity;JAK-STAT;Signal Transduction of S1P Receptor;EBV LMP1 signaling;Common Pathways Underlying Drug Addiction;Structural Pathway of Interleukin 1 (IL-1);Cardiac Hypertrophic Response;Bladder Cancer;IL-3 Signaling Pathway;Apoptosis-related network due to altered Notch3 in ovarian cancer;TCA Cycle Nutrient Utilization and Invasiveness of Ovarian Cancer;Kit receptor signaling pathway;Focal Adhesion;Signaling of Hepatocyte Growth Factor Receptor;MFAP5-mediated ovarian cancer cell motility and invasiveness;Rac1-Pak1-p38-MMP-2 pathway;Wnt Signaling Pathway;IL-6 signaling pathway;TGF-beta Signaling Pathway;Hypothesized Pathways in Pathogenesis of Cardiovascular Disease;BDNF-TrkB Signaling;Association Between Physico-Chemical Features and Toxicity Associated Pathways;MAPK Signaling Pathway;MAPK and NFkB Signalling Pathways Inhibited by Yersinia YopJ;ERK Pathway in Huntington,s Disease;Toll-like Receptor Signaling;TGF-B Signaling in Thyroid Cells for Epithelial-Mesenchymal Transition;4-hydroxytamoxifen, Dexamethasone, and Retinoic Acids Regulation of p27 Expression;IL-4 Signaling Pathway;VEGFA-VEGFR2 Signaling Pathway;Angiopoietin Like Protein 8 Regulatory Pathway;Chemokine signaling pathway;ESC Pluripotency Pathways;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;Protein alkylation leading to liver fibrosis;miRNA regulation of prostate cancer signaling pathways;Prion disease pathway;Endometrial cancer;PI3K-Akt Signaling Pathway;MET in type 1 papillary renal cell carcinoma;Chromosomal and microsatellite instability in colorectal cancer;MAPK Cascade;Ras Signaling;EMT transition in Colorectal Cancer;EGF-EGFR Signaling Pathway;Insulin Signaling;IL-2 Signaling Pathway;Regulation of Actin Cytoskeleton;EPO Receptor Signaling;Senescence and Autophagy in Cancer;ErbB Signaling Pathway;T-Cell antigen Receptor (TCR) Signaling Pathway;DNA Damage Response (only ATM dependent);Estrogen signaling pathway;Vitamin A and Carotenoid Metabolism;Serotonin HTR1 Group and FOS Pathway;Serotonin Receptor 2 and ELK-SRF-GATA4 signaling;Serotonin Receptor 4-6-7 and NR3C Signaling;Toll-like Receptor Signaling Pathway;Developmental Biology;Signaling by GPCR;Negative regulation of FGFR2 signaling;Signaling by FGFR2;RAGE;RUNX2 regulates osteoblast differentiation;TWEAK;MAP2K and MAPK activation;RUNX2 regulates bone development;Transcriptional regulation by RUNX2;Toll Like Receptor 7/8 (TLR7/8) Cascade;Notch;Interleukin-17 signaling;Neutrophil degranulation;Disease;Negative regulation of FGFR3 signaling;Signaling by FGFR3;Signal Transduction;Recycling pathway of L1;Gene expression (Transcription);Signaling by Interleukins;Negative regulation of FGFR4 signaling;Signaling by FGFR4;Signaling by FGFR;mechanism of gene regulation by peroxisome proliferators via ppara;bioactive peptide induced signaling pathway;role of erk5 in neuronal survival pathway;erk and pi-3 kinase are necessary for collagen binding in corneal epithelia;links between pyk2 and map kinases;regulation of splicing through sam68;human cytomegalovirus and map kinase pathways;influence of ras and rho proteins on g1 to s transition;role of egf receptor transactivation by gpcrs in cardiac hypertrophy;aspirin blocks signaling pathway involved in platelet activation;trefoil factors initiate mucosal healing;transcription factor creb and its extracellular signals;regulation of eif-4e and p70s6 kinase;melanocyte development and pigmentation pathway;stat3 signaling pathway;angiotensin ii mediated activation of jnk pathway via pyk2 dependent signaling;il-2 receptor beta chain in t cell activation;phospholipids as signalling intermediaries;cadmium induces dna synthesis and proliferation in macrophages;ccr3 signaling in eosinophils;mcalpain and friends in cell motility;how progesterone initiates the oocyte maturation;sprouty regulation of tyrosine kinase signals;phosphorylation of mek1 by cdk5/p35 down regulates the map kinase pathway;role of -arrestins in the activation and targeting of map kinases;erk1/erk2 mapk signaling pathway;role of erbb2 in signal transduction and oncology;keratinocyte differentiation;mapkinase signaling pathway;Generic Transcription Pathway;Prolactin;Regulation of HSF1-mediated heat shock response;Oncogene Induced Senescence;Cytokine Signaling in Immune system;Toll Like Receptor 9 (TLR9) Cascade;Alpha6Beta4Integrin;Oxidative Stress Induced Senescence;MyD88 cascade initiated on plasma membrane;Toll Like Receptor 10 (TLR10) Cascade;Toll Like Receptor 3 (TLR3) Cascade;Toll Like Receptor 5 (TLR5) Cascade;B cell receptor signaling;Toll-Like Receptors Cascades;Senescence-Associated Secretory Phenotype (SASP);Cellular Senescence;Signal attenuation;Cellular responses to stress;GPCR Adenosine A2A receptor;Insulin receptor signalling cascade;Signaling by Insulin receptor;GPCR GroupI metabotropic glutamate receptor;GPCR signaling-G alpha q;CD4 T cell receptor signaling-ERK cascade;RNA Polymerase II Transcription;Fcgamma receptor (FCGR) dependent phagocytosis;HGF;FCERI mediated MAPK activation;Fc epsilon receptor (FCERI) signaling;TCR;Oncostatin_M;IGF signaling;Innate Immune System;Immune System;Ghrelin;RHO GTPases Activate WASPs and WAVEs;FGF;Negative feedback regulation of MAPK pathway;KitReceptor;ATF-2 transcription factor network;Fibroblast growth factor-1;insulin Mam;Nuclear Events (kinase and transcription factor activation);Neuronal System;BCR;roles of arrestin dependent recruitment of src kinases in gpcr signaling;CRH;ErbB4 signaling events;Thrombin signalling through proteinase activated receptors (PARs);TGF-beta super family signaling pathway canonical;ceramide signaling pathway;GPCR signaling-G alpha s Epac and ERK;MAPK1 (ERK2) activation;IL1;Platelet activation, signaling and aggregation;RAF-independent MAPK1/3 activation;Cellular responses to external stimuli;IL-7 signaling;GPCR signaling-G alpha s PKA and ERK;RHO GTPase Effectors;Signaling by Rho GTPases;ERKs are inactivated;Signaling by NTRK1 (TRKA);Integrin;TGF_beta_Receptor;fc epsilon receptor i signaling in mast cells;Signaling by NTRKs;Golgi Cisternae Pericentriolar Stack Reorganization;BDNF;BMP receptor signaling;ERK/MAPK targets;EGFR1;Activation of the AP-1 family of transcription factors;MAPK targets/ Nuclear events mediated by MAP kinases;MAP kinase activation;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;agrin in postsynaptic differentiation;Ras signaling in the CD4+ TCR pathway;Glucocorticoid receptor regulatory network;role of mal in rho-mediated activation of srf;ErbB1 downstream signaling;Regulation of PTEN gene transcription;fmlp induced chemokine gene expression in hmc-1 cells;Hemostasis;MyD88 dependent cascade initiated on endosome;Negative regulation of MAPK pathway;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;BCR signaling pathway;PTEN Regulation;PIP3 activates AKT signaling;JAK STAT pathway and regulation;PDGF;IL2;Regulation of actin dynamics for phagocytic cup formation;NCAM signaling for neurite out-growth;VEGFR3 signaling in lymphatic endothelium;IL11;NGF;Cellular response to heat stress;MAP kinase cascade;EPO signaling;Class IB PI3K non-lipid kinase events;Mitotic Prophase;Signaling events regulated by Ret tyrosine kinase;IL3;Signal transduction by L1;IL2-mediated signaling events;Gastrin;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Negative regulation of the PI3K/AKT network;IFN-gamma pathway;L1CAM interactions;Angiopoietin receptor Tie2-mediated signaling;phospho-PLA2 pathway;Ca-dependent events;PLC beta mediated events;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses;G-protein mediated events;IL4;Opioid Signalling;G alpha (i) signalling events;Axon guidance;M Phase;Leptin;RSK activation;CREB phosphorylation through the activation of Ras;Advanced glycosylation endproduct receptor signaling;Post NMDA receptor activation events;Activation of NMDA receptor and postsynaptic events;Cell Cycle;IL6;TNFalpha;IL-7;TRIF(TICAM1)-mediated TLR4 signaling ;MyD88-independent TLR4 cascade ;Toll Like Receptor 4 (TLR4) Cascade;Signaling by Receptor Tyrosine Kinases;Signaling by RAS mutants;VEGF;Signaling by high-kinase activity BRAF mutants;ID;Cell Cycle, Mitotic;Gastrin-CREB signalling pathway via PKC and MAPK;G alpha (q) signalling events;GPCR downstream signalling;Signaling by moderate kinase activity BRAF mutants;EGF;IL9;Paradoxical activation of RAF signaling by kinase inactive BRAF;ErbB2/ErbB3 signaling events;Intracellular signaling by second messengers;MyD88:Mal cascade initiated on plasma membrane;Toll Like Receptor TLR1:TLR2 Cascade;Toll Like Receptor TLR6:TLR2 Cascade;Toll Like Receptor 2 (TLR2) Cascade;Osteopontin-mediated events;GMCSF-mediated signaling events;mTOR signaling pathway;ALK1 signaling events;Neurotrophic factor-mediated Trk receptor signaling;TRAIL signaling pathway;Signaling by BRAF and RAF fusions;Oncogenic MAPK signaling;Diseases of signal transduction;CDC42 signaling events;Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met);Downstream signaling in naïve CD8+ T cells;Fc-epsilon receptor I signaling in mast cells;Netrin-mediated signaling events;S1P1 pathway;Regulation of Telomerase;Signaling events mediated by focal adhesion kinase;Retinoic acid receptors-mediated signaling;Regulation of cytoplasmic and nuclear SMAD2/3 signaling;S1P3 pathway;Syndecan-1-mediated signaling events;CXCR3-mediated signaling events;S1P4 pathway;EPHB forward signaling;Nongenotropic Androgen signaling;Arf6 downstream pathway;PDGFR-beta signaling pathway;Trk receptor signaling mediated by the MAPK pathway;Endothelins;Presenilin action in Notch and Wnt signaling;FGF signaling pathway;Signaling events mediated by VEGFR1 and VEGFR2;Ceramide signaling pathway;Integrins in angiogenesis;Syndecan-2-mediated signaling events;Signaling events mediated by PRL;Cellular roles of Anthrax toxin;S1P2 pathway;VEGFR1 specific signals;CD4 T cell receptor signaling-JNK cascade;TSLP;insulin;Negative regulation of FGFR1 signaling;Signaling by FGFR1;CD4 T cell receptor signaling
(Consensus)
Recessive Scores
- pRec
- 0.983
Intolerance Scores
- loftool
- rvis_EVS
- -0.41
- rvis_percentile_EVS
- 26.23
Haploinsufficiency Scores
- pHI
- 0.999
- hipred
- Y
- hipred_score
- 0.783
- ghis
- 0.663
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- K
- gene_indispensability_pred
- E
- gene_indispensability_score
- 1.00
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mapk1
- Phenotype
- neoplasm; reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; skeleton phenotype; immune system phenotype; vision/eye phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); muscle phenotype; digestive/alimentary phenotype; endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype; craniofacial phenotype;
Zebrafish Information Network
- Gene name
- mapk1
- Affected structure
- pericardial cavity
- Phenotype tag
- abnormal
- Phenotype quality
- edematous
Gene ontology
- Biological process
- MAPK cascade;activation of MAPK activity;protein phosphorylation;apoptotic process;chemotaxis;cellular response to DNA damage stimulus;cell cycle;signal transduction;chemical synaptic transmission;axon guidance;learning or memory;positive regulation of cell population proliferation;fibroblast growth factor receptor signaling pathway;regulation of gene expression;positive regulation of gene expression;positive regulation of peptidyl-threonine phosphorylation;regulation of phosphatidylinositol 3-kinase signaling;diadenosine tetraphosphate biosynthetic process;viral process;peptidyl-serine phosphorylation;peptidyl-threonine phosphorylation;sensory perception of pain;cytosine metabolic process;platelet activation;regulation of ossification;positive regulation of cell migration;regulation of cellular pH;thyroid gland development;regulation of protein stability;lipopolysaccharide-mediated signaling pathway;positive regulation of telomere maintenance via telomerase;regulation of stress-activated MAPK cascade;obsolete positive regulation of protein import into nucleus, translocation;mammary gland epithelial cell proliferation;cellular response to amino acid starvation;cellular response to reactive oxygen species;response to nicotine;intracellular signal transduction;Fc-epsilon receptor signaling pathway;Fc-gamma receptor signaling pathway involved in phagocytosis;ERBB signaling pathway;outer ear morphogenesis;neutrophil degranulation;response to exogenous dsRNA;response to estrogen;negative regulation of cell differentiation;positive regulation of translation;positive regulation of transcription, DNA-templated;thymus development;T cell receptor signaling pathway;B cell receptor signaling pathway;regulation of DNA-binding transcription factor activity;stress-activated MAPK cascade;regulation of cytoskeleton organization;positive regulation of telomerase activity;Bergmann glial cell differentiation;long-term synaptic potentiation;face development;lung morphogenesis;trachea formation;labyrinthine layer blood vessel development;cardiac neural crest cell development involved in heart development;ERK1 and ERK2 cascade;response to epidermal growth factor;cellular response to cadmium ion;cellular response to organic substance;cellular response to tumor necrosis factor;caveolin-mediated endocytosis;regulation of Golgi inheritance;cellular response to granulocyte macrophage colony-stimulating factor stimulus;regulation of cellular response to heat;cellular response to dopamine;positive regulation of telomere capping;regulation of early endosome to late endosome transport
- Cellular component
- extracellular region;nucleus;nucleoplasm;cytoplasm;mitochondrion;early endosome;late endosome;Golgi apparatus;microtubule organizing center;cytosol;cytoskeleton;plasma membrane;caveola;focal adhesion;postsynaptic density;axon;pseudopodium;dendrite cytoplasm;protein-containing complex;azurophil granule lumen;perikaryon;mitotic spindle;ficolin-1-rich granule lumen
- Molecular function
- phosphotyrosine residue binding;DNA binding;protein serine/threonine kinase activity;MAP kinase activity;MAP kinase kinase activity;protein binding;ATP binding;transcription factor binding;RNA polymerase II CTD heptapeptide repeat kinase activity;kinase activity;phosphatase binding;mitogen-activated protein kinase kinase kinase binding;identical protein binding