RAF1
Raf-1 proto-oncogene, serine/threonine kinase, the group of Mitogen-activated protein kinase kinase kinases|RAF family
Basic information
Region (hg38): 3:12582100-12664201
Links
Phenotypes
GenCC
Source:
- Noonan syndrome 5 (Definitive), mode of inheritance: AD
- Noonan syndrome 5 (Definitive), mode of inheritance: AD
- dilated cardiomyopathy 1NN (Limited), mode of inheritance: AD
- Noonan syndrome 5 (Strong), mode of inheritance: AD
- LEOPARD syndrome 2 (Strong), mode of inheritance: AD
- Noonan syndrome 5 (Strong), mode of inheritance: AD
- Noonan syndrome (Supportive), mode of inheritance: AD
- familial isolated dilated cardiomyopathy (Supportive), mode of inheritance: AD
- Noonan syndrome with multiple lentigines (Supportive), mode of inheritance: AD
- Noonan syndrome 5 (Definitive), mode of inheritance: AD
- dilated cardiomyopathy 1NN (Strong), mode of inheritance: AD
- LEOPARD syndrome 2 (Strong), mode of inheritance: AD
- Noonan syndrome 5 (Strong), mode of inheritance: AD
- Costello syndrome (Disputed Evidence), mode of inheritance: AD
- Noonan syndrome (Definitive), mode of inheritance: AD
- cardiofaciocutaneous syndrome (Disputed Evidence), mode of inheritance: AD
- Noonan syndrome with multiple lentigines (Limited), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Cardiomyopathy, dilated, 1NN; LEOPARD syndrome 2; Noonan syndrome 5 | AD | Cardiovascular; Hematologic | In Dilated cardiomyopathy, individuals may present in pediatric without other syndromic findings, and awareness may allow early surveillance and management; In LEOPARD and Noonan syndromes, surveillance and treatment related to manifestations such as cardiac anomalies (which include hypertrophic cardiomyopathy) and short stature can be beneficial; Precautions regarding bleeding risk can be beneficial | Cardiovascular; Craniofacial; Dermatologic; Genitourinary; Hematologic; Musculoskeletal; Neurologic | 17603483; 17603482; 20876176; 20602484; 20301303; 24777450 |
ClinVar
This is a list of variants' phenotypes submitted to
- RASopathy (619 variants)
- not provided (303 variants)
- Cardiovascular phenotype (229 variants)
- not specified (160 variants)
- Noonan syndrome 5 (86 variants)
- LEOPARD syndrome 2 (70 variants)
- Noonan syndrome (45 variants)
- Noonan syndrome and Noonan-related syndrome (36 variants)
- Inborn genetic diseases (14 variants)
- RAF1-related condition (13 variants)
- Noonan syndrome with multiple lentigines (8 variants)
- Dilated cardiomyopathy 1NN (8 variants)
- Noonan syndrome 1 (7 variants)
- LEOPARD syndrome 2;Noonan syndrome 5;Dilated cardiomyopathy 1NN (7 variants)
- Primary familial hypertrophic cardiomyopathy (7 variants)
- Noonan syndrome 5;Dilated cardiomyopathy 1NN;LEOPARD syndrome 2 (6 variants)
- Dilated cardiomyopathy 1NN;LEOPARD syndrome 2;Noonan syndrome 5 (5 variants)
- LEOPARD syndrome 2;Dilated cardiomyopathy 1NN;Noonan syndrome 5 (3 variants)
- Lung adenocarcinoma (2 variants)
- Noonan syndrome;Noonan syndrome with multiple lentigines (2 variants)
- See cases (2 variants)
- Neoplasm of the large intestine (2 variants)
- Primary dilated cardiomyopathy (2 variants)
- Gastric adenocarcinoma (2 variants)
- Dilated cardiomyopathy 1NN;Noonan syndrome 5;LEOPARD syndrome 2 (2 variants)
- LEOPARD syndrome 2;Noonan syndrome 5 (2 variants)
- Hypertrophic cardiomyopathy 1 (2 variants)
- Noonan syndrome 5;LEOPARD syndrome 2;Dilated cardiomyopathy 1NN (2 variants)
- Noonan syndrome 5;LEOPARD syndrome 2 (2 variants)
- Malignant melanoma of skin (2 variants)
- Noonan syndrome 3 (1 variants)
- Primary familial dilated cardiomyopathy (1 variants)
- Pituitary stalk interruption syndrome (1 variants)
- Stroke disorder (1 variants)
- RAF1-related disorders (1 variants)
- Melanoma (1 variants)
- Ventricular tachycardia (1 variants)
- Noonan syndrome with multiple lentigines;Noonan syndrome (1 variants)
- Left ventricular noncompaction cardiomyopathy (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAF1 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 | 167 | 179 | ||||
| missense | 12 | 32 | 342 | 13 | 404 | |
| nonsense | 6 | |||||
| start loss | 1 | |||||
| frameshift | 8 | |||||
| inframe indel | 12 | 12 | ||||
| splice donor/acceptor (+/-2bp) | 3 | |||||
| splice region ? | 19 | 31 | 1 | 51 | ||
| non coding ? | 41 | 132 | 58 | 231 | ||
| Total | 12 | 32 | 416 | 313 | 71 |
Variants in RAF1
This is a list of pathogenic ClinVar variants found in the RAF1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 3-12582119-T-C | not specified | Uncertain significance (Jan 08, 2024) | ||
| 3-12582131-C-G | not specified | Uncertain significance (Feb 14, 2024) | ||
| 3-12582131-C-T | not specified | Uncertain significance (Dec 07, 2023) | ||
| 3-12582132-G-A | not specified | Uncertain significance (Mar 07, 2023) | ||
| 3-12582171-T-A | not specified | Uncertain significance (Dec 13, 2021) | ||
| 3-12582177-A-G | not specified | Likely benign (Mar 02, 2023) | ||
| 3-12582191-G-A | not specified | Uncertain significance (Aug 04, 2023) | ||
| 3-12582206-G-A | not specified | Uncertain significance (Oct 06, 2021) | ||
| 3-12582216-T-G | not specified | Uncertain significance (Oct 06, 2021) | ||
| 3-12582221-C-A | not specified | Uncertain significance (Oct 06, 2021) | ||
| 3-12582223-C-T | Likely benign (Dec 01, 2022) | |||
| 3-12583673-G-A | LEOPARD syndrome 2 • Noonan syndrome 5 | Uncertain significance (Apr 27, 2017) | ||
| 3-12583674-T-A | LEOPARD syndrome 2 • Noonan syndrome 5 | Uncertain significance (Jan 13, 2018) | ||
| 3-12583765-CTGTT-C | Noonan syndrome • Noonan syndrome with multiple lentigines | Uncertain significance (Jun 14, 2016) | ||
| 3-12583765-C-CTGTT | Noonan syndrome • Noonan syndrome with multiple lentigines | Uncertain significance (Jun 14, 2016) | ||
| 3-12583776-T-TTTGTTTGTTAGAGAAACAAGGCTGGCCC | Likely benign (Nov 01, 2022) | |||
| 3-12583808-G-A | Noonan syndrome 5 • LEOPARD syndrome 2 | Uncertain significance (Jan 12, 2018) | ||
| 3-12583867-C-A | LEOPARD syndrome 2 • Noonan syndrome 5 | Uncertain significance (Jan 12, 2018) | ||
| 3-12583871-G-C | LEOPARD syndrome 2 • Noonan syndrome 5 • Dilated cardiomyopathy 1NN;LEOPARD syndrome 2;Noonan syndrome 5 | Uncertain significance (Jul 06, 2021) | ||
| 3-12583874-A-G | LEOPARD syndrome 2 • Noonan syndrome 5 | Uncertain significance (Jan 12, 2018) | ||
| 3-12583884-T-C | Noonan syndrome 5 • LEOPARD syndrome 2 | Uncertain significance (Jan 12, 2018) | ||
| 3-12583886-C-A | LEOPARD syndrome 2 • Noonan syndrome 5 | Uncertain significance (Jan 13, 2018) | ||
| 3-12583887-G-A | LEOPARD syndrome 2 • Noonan syndrome 5 | Uncertain significance (Jan 13, 2018) | ||
| 3-12583908-T-C | LEOPARD syndrome 2 • Noonan syndrome 5 | Benign/Likely benign (Jan 12, 2018) | ||
| 3-12583958-C-T | Noonan syndrome 5 • LEOPARD syndrome 2 | Benign/Likely benign (Jan 13, 2018) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RAF1 | protein_coding | protein_coding | ENST00000251849 | 16 | 80626 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.853 | 0.147 | 125737 | 0 | 11 | 125748 | 0.0000437 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.46 | 234 | 367 | 0.638 | 0.0000214 | 4279 |
| Missense in Polyphen | 42 | 118.72 | 0.35376 | 1370 | ||
| Synonymous | 0.0629 | 134 | 135 | 0.993 | 0.00000783 | 1249 |
| Loss of Function | 4.58 | 7 | 37.1 | 0.189 | 0.00000218 | 400 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000905 | 0.0000904 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.000139 | 0.000139 |
| European (Non-Finnish) | 0.0000528 | 0.0000527 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Serine/threonine-protein kinase that acts as a regulatory link between the membrane-associated Ras GTPases and the MAPK/ERK cascade, and this critical regulatory link functions as a switch determining cell fate decisions including proliferation, differentiation, apoptosis, survival and oncogenic transformation. RAF1 activation initiates a mitogen-activated protein kinase (MAPK) cascade that comprises a sequential phosphorylation of the dual-specific MAPK kinases (MAP2K1/MEK1 and MAP2K2/MEK2) and the extracellular signal-regulated kinases (MAPK3/ERK1 and MAPK1/ERK2). The phosphorylated form of RAF1 (on residues Ser-338 and Ser-339, by PAK1) phosphorylates BAD/Bcl2- antagonist of cell death at 'Ser-75'. Phosphorylates adenylyl cyclases: ADCY2, ADCY5 and ADCY6, resulting in their activation. Phosphorylates PPP1R12A resulting in inhibition of the phosphatase activity. Phosphorylates TNNT2/cardiac muscle troponin T. Can promote NF-kB activation and inhibit signal transducers involved in motility (ROCK2), apoptosis (MAP3K5/ASK1 and STK3/MST2), proliferation and angiogenesis (RB1). Can protect cells from apoptosis also by translocating to the mitochondria where it binds BCL2 and displaces BAD/Bcl2-antagonist of cell death. Regulates Rho signaling and migration, and is required for normal wound healing. Plays a role in the oncogenic transformation of epithelial cells via repression of the TJ protein, occludin (OCLN) by inducing the up-regulation of a transcriptional repressor SNAI2/SLUG, which induces down-regulation of OCLN. Restricts caspase activation in response to selected stimuli, notably Fas stimulation, pathogen-mediated macrophage apoptosis, and erythroid differentiation. {ECO:0000269|PubMed:11427728, ECO:0000269|PubMed:11719507, ECO:0000269|PubMed:15385642, ECO:0000269|PubMed:15618521, ECO:0000269|PubMed:15849194, ECO:0000269|PubMed:16892053, ECO:0000269|PubMed:16924233, ECO:0000269|PubMed:9360956}.;
- Disease
- DISEASE: Noonan syndrome 5 (NS5) [MIM:611553]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. {ECO:0000269|PubMed:17603482, ECO:0000269|PubMed:17603483, ECO:0000269|PubMed:20683980}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: LEOPARD syndrome 2 (LPRD2) [MIM:611554]: A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. {ECO:0000269|PubMed:17603483}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, dilated 1NN (CMD1NN) [MIM:615916]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:24777450}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);Non-small cell lung cancer - 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);Renal cell carcinoma - Homo sapiens (human);VEGF signaling pathway - Homo sapiens (human);Long-term potentiation - 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);Melanoma - Homo sapiens (human);Bladder cancer - Homo sapiens (human);Jak-STAT 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);Gap junction - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);Chemokine signaling pathway - 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);Prostate cancer - 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);Tuberculosis - 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);Sphingolipid signaling pathway - Homo sapiens (human);Phospholipase D signaling pathway - 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);Hepatitis C - Homo sapiens (human);Hepatitis B - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Apoptosis - Homo sapiens (human);Cellular senescence - 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;VEGF Signaling Pathway;Fc Epsilon Receptor I Signaling in Mast Cells;Insulin Signalling;EGF-Core;IL-5 Signaling Pathway;MicroRNAs in cardiomyocyte hypertrophy;Angiogenesis overview;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;Endothelin Pathways;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;Retinoblastoma (RB) in Cancer;Integrated Lung Cancer Pathway;Aryl Hydrocarbon Receptor;JAK-STAT;Common Pathways Underlying Drug Addiction;Cardiac Hypertrophic Response;IL-3 Signaling Pathway;Extracellular vesicle-mediated signaling in recipient cells;nerve growth factor pathway (ngf);Kit receptor signaling pathway;Focal Adhesion;Signaling of Hepatocyte Growth Factor Receptor;Pathways Affected in Adenoid Cystic Carcinoma;TGF-beta Signaling Pathway;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;T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection;4-hydroxytamoxifen, Dexamethasone, and Retinoic Acids Regulation of p27 Expression;VEGFA-VEGFR2 Signaling Pathway;Angiopoietin Like Protein 8 Regulatory Pathway;Chemokine signaling pathway;ESC Pluripotency Pathways;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PDGFR-beta pathway;miRNA regulation of prostate cancer signaling pathways;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;T-Cell antigen Receptor (TCR) Signaling Pathway;Serotonin Receptor 2 and ELK-SRF-GATA4 signaling;RAGE;MAP2K and MAPK activation;RAF activation;Disease;Signal Transduction;inhibition of cellular proliferation by gleevec;role of erk5 in neuronal survival pathway;links between pyk2 and map kinases;regulation of splicing through sam68;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;melanocyte development and pigmentation pathway;angiotensin ii mediated activation of jnk pathway via pyk2 dependent signaling;il-2 receptor beta chain in t cell activation;ras signaling pathway;phospholipids as signalling intermediaries;cadmium induces dna synthesis and proliferation in macrophages;multiple antiapoptotic pathways from igf-1r signaling lead to bad phosphorylation;ccr3 signaling in eosinophils;signaling pathway from g-protein families;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;t cell receptor signaling pathway;bcr signaling pathway;calcium signaling by hbx of hepatitis b virus;erk1/erk2 mapk signaling pathway;role of erbb2 in signal transduction and oncology;keratinocyte differentiation;mapkinase signaling pathway;Prolactin;Stimuli-sensing channels;Ion channel transport;B cell receptor signaling;GPCR GroupI metabotropic glutamate receptor;GPCR signaling-G alpha q;CD4 T cell receptor signaling-ERK cascade;igf-1 signaling pathway;CD209 (DC-SIGN) signaling;C-type lectin receptors (CLRs);HGF;TCR;Oncostatin_M;IGF signaling;Innate Immune System;Immune System;Ghrelin;Rap1 signalling;FGF;Adaptive Immune System;Negative feedback regulation of MAPK pathway;KitReceptor;Transport of small molecules;GP1b-IX-V activation signalling;Neuronal System;roles of arrestin dependent recruitment of src kinases in gpcr signaling;ceramide signaling pathway;pdgf signaling pathway;Platelet activation, signaling and aggregation;IL-7 signaling;tpo signaling pathway;Integrin;fc epsilon receptor i signaling in mast cells;BDNF;EGFR1;SHP2 signaling;Ras signaling in the CD4+ TCR pathway;role of mal in rho-mediated activation of srf;ErbB1 downstream signaling;fmlp induced chemokine gene expression in hmc-1 cells;Hemostasis;Negative regulation of MAPK pathway;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;BCR signaling pathway;JAK STAT pathway and regulation;PDGF;IL2;IL11;NGF;EPO signaling;IL3;IL2-mediated signaling events;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses;IL5;CREB phosphorylation through the activation of Ras;Post NMDA receptor activation events;Activation of NMDA receptor and postsynaptic events;TSH;Signaling by RAS mutants;VEGF;Signaling by high-kinase activity BRAF mutants;ID;Signaling by moderate kinase activity BRAF mutants;EGF;Paradoxical activation of RAF signaling by kinase inactive BRAF;ErbB2/ErbB3 signaling events;GMCSF-mediated signaling events;mTOR 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;Internalization of ErbB1;Signaling events mediated by focal adhesion kinase;CXCR3-mediated signaling events;IGF1 pathway;Signaling events mediated by Stem cell factor receptor (c-Kit);Nongenotropic Androgen signaling;p38 signaling mediated by MAPKAP kinases;Class I PI3K signaling events mediated by Akt;PDGFR-beta signaling pathway;Regulation of retinoblastoma protein;Trk receptor signaling mediated by the MAPK pathway;Endothelins;Signaling events mediated by VEGFR1 and VEGFR2;Ceramide signaling pathway;CD4 T cell receptor signaling
(Consensus)
Recessive Scores
- pRec
- 0.931
Intolerance Scores
- loftool
- 0.184
- rvis_EVS
- -0.65
- rvis_percentile_EVS
- 16.44
Haploinsufficiency Scores
- pHI
- 0.999
- hipred
- Y
- hipred_score
- 0.783
- ghis
- 0.596
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- K
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.999
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Raf1
- Phenotype
- homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype; craniofacial phenotype; growth/size/body region 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); endocrine/exocrine gland phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; liver/biliary system phenotype; immune system phenotype; skeleton 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); vision/eye phenotype; hematopoietic system phenotype; 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); 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); normal phenotype; neoplasm; embryo phenotype;
Zebrafish Information Network
- Gene name
- raf1a
- Affected structure
- otolith
- Phenotype tag
- abnormal
- Phenotype quality
- position
Gene ontology
- Biological process
- MAPK cascade;activation of MAPKK activity;response to hypoxia;stimulatory C-type lectin receptor signaling pathway;protein phosphorylation;apoptotic process;signal transduction;activation of adenylate cyclase activity;heart development;cell population proliferation;negative regulation of cell population proliferation;cell differentiation;platelet activation;thyroid gland development;negative regulation of protein complex assembly;positive regulation of peptidyl-serine phosphorylation;ion transmembrane transport;somatic stem cell population maintenance;regulation of Rho protein signal transduction;insulin secretion involved in cellular response to glucose stimulus;response to muscle stretch;wound healing;regulation of apoptotic process;negative regulation of apoptotic process;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;intermediate filament cytoskeleton organization;regulation of cell differentiation;positive regulation of transcription by RNA polymerase II;neurotrophin TRK receptor signaling pathway;thymus development;face development;death-inducing signaling complex assembly;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;regulation of cell motility
- Cellular component
- cytoplasm;mitochondrion;mitochondrial outer membrane;Golgi apparatus;cytosol;plasma membrane;nuclear speck;pseudopodium
- Molecular function
- protein kinase activity;protein serine/threonine kinase activity;MAP kinase kinase kinase activity;protein binding;ATP binding;adenylate cyclase binding;adenylate cyclase activator activity;kinase activity;enzyme binding;small GTPase binding;mitogen-activated protein kinase kinase binding;identical protein binding;metal ion binding;protein heterodimerization activity