HRAS
HRas proto-oncogene, GTPase, the group of RAS type GTPase family
Basic information
Region (hg38): 11:532242-537321
Previous symbols: [ "HRAS1" ]
Links
Phenotypes
GenCC
Source:
- Costello syndrome (Supportive), mode of inheritance: AD
- Costello syndrome (Strong), mode of inheritance: AD
- Costello syndrome (Definitive), mode of inheritance: AD
- Noonan syndrome-like disorder with loose anagen hair (Disputed Evidence), mode of inheritance: AD
- Costello syndrome (Definitive), mode of inheritance: AD
- Costello syndrome (Definitive), mode of inheritance: AD
- rhabdomyosarcoma (Moderate), mode of inheritance: AD
- Costello syndrome (Strong), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Costello syndrome | AD | Cardiovascular; Oncologic | The condition may be frequently clinically recognizable, but often includes cardiovascular manifestations, including structural anomalies, hypertrophic cardiomyopathy, and arrhythmias, as well as an elevated risk for malignancy, and surveillance and appropriate care may be beneficial | Cardiovascular; Craniofacial; Dental; Dermatologic; Musculoskeletal; Neurologic; Oncologic | 907573; 8882404; 8834040; 9863604; 9521961; 10424828; 10449656; 10678668; 11857557; 11857556; 12210337; 12561057; 12605434; 16170316; 15940703; 16372351; 16329078; 16969868; 16443854; 17551924; 17412879; 17054105; 18042262; 18247425; 18302240; 19213030; 19288554; 19206176; 20301680; 20425820; 21438134; 21495179; 21834037; 22098123; 22261753; 22420426; 22488832; 22495831; 22495892; 22510203; 22887473; 22926243; 23429430; 23751039; 23813656; 23918324; 24057668 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (16 variants)
- Costello syndrome (13 variants)
- RASopathy (5 variants)
- Neoplasm of the large intestine (5 variants)
- Thyroid tumor (5 variants)
- 6 conditions (5 variants)
- Malignant neoplasm of body of uterus (4 variants)
- Squamous cell carcinoma of the skin (4 variants)
- Transitional cell carcinoma of the bladder (4 variants)
- Neoplasm of uterine cervix (4 variants)
- Lung adenocarcinoma (4 variants)
- Pancreatic adenocarcinoma (4 variants)
- Noonan syndrome and Noonan-related syndrome (4 variants)
- HRAS-related disorder (4 variants)
- Acute myeloid leukemia (4 variants)
- Malignant melanoma of skin (4 variants)
- Multiple myeloma (4 variants)
- Hepatocellular carcinoma (4 variants)
- Gastric adenocarcinoma (4 variants)
- Squamous cell carcinoma of the head and neck (4 variants)
- Breast neoplasm (4 variants)
- Myopathy, congenital, with excess of muscle spindles (3 variants)
- Uterine carcinosarcoma (3 variants)
- Nasopharyngeal neoplasm (3 variants)
- Adenoid cystic carcinoma (3 variants)
- Ovarian serous cystadenocarcinoma (3 variants)
- Glioblastoma (3 variants)
- Myelodysplastic syndrome (3 variants)
- Carcinoma of esophagus (3 variants)
- Prostate adenocarcinoma (3 variants)
- Epidermal nevus (3 variants)
- Papillary renal cell carcinoma, sporadic (3 variants)
- Nevus sebaceous (2 variants)
- Cardiovascular phenotype (2 variants)
- Rhabdomyosarcoma (2 variants)
- Noonan syndrome 1 (1 variants)
- See cases (1 variants)
- Malignant tumor of urinary bladder (1 variants)
- Noonan syndrome (1 variants)
- Melanoma (1 variants)
- Wooly hair nevus (1 variants)
- Neoplasm (1 variants)
- Urinary bladder carcinoma (1 variants)
- Lip and oral cavity carcinoma (1 variants)
- B-cell chronic lymphocytic leukemia (1 variants)
- Inborn genetic diseases (1 variants)
- Non-immune hydrops fetalis (1 variants)
- Epidermal nevus with urothelial cancer, somatic (1 variants)
- Squamous cell lung carcinoma (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the HRAS 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 | 144 | 155 | ||||
| missense | 18 | 15 | 207 | 249 | ||
| nonsense | 12 | 13 | ||||
| start loss | 0 | |||||
| frameshift | 13 | 15 | ||||
| inframe indel | 13 | |||||
| splice donor/acceptor (+/-2bp) | 3 | |||||
| splice region | 10 | 20 | 1 | 31 | ||
| non coding | 68 | 25 | 100 | |||
| Total | 19 | 21 | 254 | 220 | 34 |
Variants in HRAS
This is a list of pathogenic ClinVar variants found in the HRAS region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| HRAS | protein_coding | protein_coding | ENST00000451590 | 4 | 5046 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0798 | 0.877 | 125711 | 0 | 10 | 125721 | 0.0000398 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.51 | 75 | 122 | 0.615 | 0.00000891 | 1232 |
| Missense in Polyphen | 18 | 40.167 | 0.44813 | 409 | ||
| Synonymous | -2.27 | 74 | 53.0 | 1.40 | 0.00000405 | 372 |
| Loss of Function | 1.72 | 3 | 8.37 | 0.358 | 4.54e-7 | 90 |
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) | 0.0000882 | 0.0000879 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in the activation of Ras protein signal transduction (PubMed:22821884). Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:12740440, PubMed:14500341, PubMed:9020151). {ECO:0000269|PubMed:12740440, ECO:0000269|PubMed:14500341, ECO:0000269|PubMed:22821884, ECO:0000269|PubMed:9020151}.;
- Disease
- DISEASE: Costello syndrome (CSTLO) [MIM:218040]: A rare condition characterized by prenatally increased growth, postnatal growth deficiency, mental retardation, distinctive facial appearance, cardiovascular abnormalities (typically pulmonic stenosis, hypertrophic cardiomyopathy and/or atrial tachycardia), tumor predisposition, skin and musculoskeletal abnormalities. {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:17054105, ECO:0000269|PubMed:18039947, ECO:0000269|PubMed:18247425, ECO:0000269|PubMed:19995790}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]: Variant of Costello syndrome. {ECO:0000269|PubMed:17412879}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470]: A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. {ECO:0000269|PubMed:12727991}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.; DISEASE: Note=Mutations which change positions 12, 13 or 61 activate the potential of HRAS to transform cultured cells and are implicated in a variety of human tumors. {ECO:0000269|PubMed:3670300}.; DISEASE: Bladder cancer (BLC) [MIM:109800]: A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences. {ECO:0000269|PubMed:6298635, ECO:0000269|PubMed:6844927}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.; DISEASE: Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200]: A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis. {ECO:0000269|PubMed:22683711}. 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);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);AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human);Bladder cancer - Homo sapiens (human);Jak-STAT signaling pathway - Homo sapiens (human);Endocytosis - Homo sapiens (human);Longevity regulating pathway - multiple species - Homo sapiens (human);Long-term depression - 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);HTLV-I infection - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Mitophagy - animal - Homo sapiens (human);Axon guidance - Homo sapiens (human);Thermogenesis - 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);Longevity regulating pathway - Homo sapiens (human);Apelin signaling pathway - Homo sapiens (human);Estrogen signaling pathway - Homo sapiens (human);C-type lectin receptor signaling pathway - 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);Viral carcinogenesis - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Apoptosis - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Cholinergic synapse - Homo sapiens (human);Thyroid 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);Bisphosphonate Pathway, Pharmacodynamics;Pathway_PA165959425;Sorafenib Pharmacodynamics;Vemurafenib Pathway, Pharmacodynamics;update your name in edit mode;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;Integrin-mediated Cell Adhesion;Leptin signaling pathway;Human Thyroid Stimulating Hormone (TSH) signaling pathway;Prolactin Signaling Pathway;Signaling Pathways in Glioblastoma;Androgen Receptor Network in Prostate Cancer;RalA downstream regulated genes;B Cell Receptor Signaling Pathway;TNF alpha Signaling Pathway;Interleukin-11 Signaling Pathway;Oncostatin M Signaling Pathway;Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;Alpha 6 Beta 4 signaling pathway;PDGF Pathway;Aryl Hydrocarbon Receptor;Bladder Cancer;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;Rac1-Pak1-p38-MMP-2 pathway;G Protein Signaling Pathways;Pathways Affected in Adenoid Cystic Carcinoma;BDNF-TrkB Signaling;MAPK Signaling Pathway;PI3K-AKT-mTOR signaling pathway and therapeutic opportunities;ERK Pathway in Huntington,s Disease;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;p38 MAPK Signaling Pathway;Endometrial cancer;PI3K-Akt Signaling Pathway;MET in type 1 papillary renal cell carcinoma;MAPK Cascade;Ras Signaling;EMT transition in Colorectal Cancer;EGF-EGFR Signaling Pathway;Insulin Signaling;IL-2 Signaling Pathway;TGF-beta Receptor Signaling;Senescence and Autophagy in Cancer;ErbB Signaling Pathway;T-Cell antigen Receptor (TCR) Signaling Pathway;DNA Damage Response (only ATM dependent);Serotonin Receptor 2 and ELK-SRF-GATA4 signaling;SHC1 events in ERBB2 signaling;Developmental Biology;Signaling by PTK6;Signaling by GPCR;FRS-mediated FGFR2 signaling;Signaling by FGFR2;Regulation of Ras family activation;RAGE;MAP2K and MAPK activation;SHC-mediated cascade:FGFR2;FRS-mediated FGFR3 signaling;Downstream signaling of activated FGFR2;RAF activation;SHC-mediated cascade:FGFR3;Neutrophil degranulation;Downstream signaling of activated FGFR3;Disease;Signaling by FGFR3;Signal Transduction;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;Downstream signaling of activated FGFR4;DAP12 signaling;DAP12 interactions;Signaling by FGFR4;Signaling by FGFR;inhibition of cellular proliferation by gleevec;bioactive peptide induced signaling pathway;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;egf signaling pathway;il 2 signaling pathway;trefoil factors initiate mucosal healing;transcription factor creb and its extracellular signals;p38 mapk signaling pathway;melanocyte development and pigmentation pathway;angiotensin ii mediated activation of jnk pathway via pyk2 dependent signaling;integrin signaling pathway;il-2 receptor beta chain in t cell activation;ras signaling pathway;cxcr4 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;vegf hypoxia and angiogenesis;mcalpain and friends in cell motility;VEGFA-VEGFR2 Pathway;nfat and hypertrophy of the heart ;signaling pathway from g-protein families;il 6 signaling pathway;how progesterone initiates the oocyte maturation;sprouty regulation of tyrosine kinase signals;mets affect on macrophage differentiation;phosphorylation of mek1 by cdk5/p35 down regulates the map kinase pathway;trka receptor signaling pathway;insulin signaling pathway;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;map kinase inactivation of smrt corepressor;B cell receptor signaling;SOS-mediated signalling;IRS-mediated signalling;Insulin receptor signalling cascade;Signaling by Insulin receptor;Activation of RAS in B cells;Signaling by the B Cell Receptor (BCR);SHC1 events in EGFR signaling;Signaling by PDGF;CD4 T cell receptor signaling-ERK cascade;igf-1 signaling pathway;CD209 (DC-SIGN) signaling;C-type lectin receptors (CLRs);il 3 signaling pathway;HGF;EPH-Ephrin signaling;FCERI mediated MAPK activation;Fc epsilon receptor (FCERI) signaling;Oncostatin_M;IGF signaling;Innate Immune System;Immune System;EPHB-mediated forward signaling;Regulation of RAS by GAPs;FGF;Signaling by FGFR2 in disease;Adaptive Immune System;KitReceptor;insulin Mam;Downstream signaling events of B Cell Receptor (BCR);Neuronal System;roles of arrestin dependent recruitment of src kinases in gpcr signaling;pdgf signaling pathway;Signaling by EGFR;epo signaling pathway;p38MAPK events;Signalling to RAS;tpo signaling pathway;Signalling to ERKs;Signaling by NTRK1 (TRKA);Integrin;fc epsilon receptor i signaling in mast cells;Activated NTRK2 signals through RAS;Signaling by NTRK2 (TRKB);Signaling by NTRKs;EGFR1;SHP2 signaling;Tie2 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;Cell surface interactions at the vascular wall;Hemostasis;the igf-1 receptor and longevity;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;GRB2 events in ERBB2 signaling;EGFR Transactivation by Gastrin;NCAM signaling for neurite out-growth;NGF;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases;Signaling by Non-Receptor Tyrosine Kinases;Posttranslational regulation of adherens junction stability and dissassembly;MAP kinase cascade;Signaling events regulated by Ret tyrosine kinase;IL3;a6b1 and a6b4 Integrin signaling;C-MYB transcription factor network;IL2-mediated signaling events;Downstream signal transduction;Class I PI3K signaling events;Signaling by EGFRvIII in Cancer;Signaling by EGFR in Cancer;Signaling by VEGF;EGFR-dependent Endothelin signaling events;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses;GRB2 events in EGFR signaling;EPO signaling pathway;Signaling by FGFR3 point mutants in cancer;Signaling by FGFR4 in disease;Axon guidance;Signaling by FGFR3 fusions in cancer;Signaling by FGFR3 in disease;Signaling by SCF-KIT;Signaling by FGFR in disease;IL5;Ras activation upon Ca2+ influx through NMDA receptor;Signaling by ERBB2;CREB phosphorylation through the activation of Ras;SHC1 events in ERBB4 signaling;Post NMDA receptor activation events;Activation of NMDA receptor and postsynaptic events;Signaling by ERBB4;IL6;SHC-related events triggered by IGF1R;TSH;IRS-related events triggered by IGF1R;IGF1R signaling cascade;MET activates RAS signaling;Signaling by FGFR1 in disease;Signaling by MET;Constitutive Signaling by EGFRvIII;Signaling by Receptor Tyrosine Kinases;Signaling by RAS mutants;Signaling by high-kinase activity BRAF mutants;Gastrin-CREB signalling pathway via PKC and MAPK;G alpha (q) signalling events;GPCR downstream signalling;Signaling by moderate kinase activity BRAF mutants;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Signaling by Ligand-Responsive EGFR Variants in Cancer;EGF;Paradoxical activation of RAF signaling by kinase inactive BRAF;ErbB2/ErbB3 signaling events;GMCSF-mediated signaling events;mTOR signaling pathway;Insulin Pathway;Neurotrophic factor-mediated Trk receptor signaling;LPA receptor mediated events;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;TCR signaling in naïve CD8+ T cells;CXCR3-mediated signaling events;EPHB forward signaling;IGF1 pathway;Signaling events mediated by Stem cell factor receptor (c-Kit);Plasma membrane estrogen receptor signaling;Nongenotropic Androgen signaling;Trk receptor signaling mediated by PI3K and PLC-gamma;PDGFR-beta signaling pathway;Downstream signaling of activated FGFR1;Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R);Trk receptor signaling mediated by the MAPK pathway;Endothelins;TCR signaling in naïve CD4+ T cells;Syndecan-2-mediated signaling events;FRS-mediated FGFR1 signaling;SHC-mediated cascade:FGFR1;insulin;VEGFR2 mediated cell proliferation;Signaling by FGFR1;CD4 T cell receptor signaling
(Consensus)
Recessive Scores
- pRec
- 1.00
Intolerance Scores
- loftool
- 0.205
- rvis_EVS
- -0.34
- rvis_percentile_EVS
- 30.07
Haploinsufficiency Scores
- pHI
- 0.999
- hipred
- Y
- hipred_score
- 0.767
- ghis
- 0.626
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.873
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Low | Medium |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Hras
- Phenotype
- neoplasm; 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; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); skeleton phenotype; renal/urinary system phenotype; digestive/alimentary 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); endocrine/exocrine gland 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); homeostasis/metabolism phenotype; craniofacial phenotype;
Gene ontology
- Biological process
- MAPK cascade;positive regulation of protein phosphorylation;stimulatory C-type lectin receptor signaling pathway;endocytosis;chemotaxis;cell cycle arrest;mitotic cell cycle checkpoint;signal transduction;cell surface receptor signaling pathway;Ras protein signal transduction;cell population proliferation;positive regulation of cell population proliferation;negative regulation of cell population proliferation;animal organ morphogenesis;negative regulation of gene expression;positive regulation of phospholipase C activity;positive regulation of cell migration;positive regulation of interferon-gamma production;negative regulation of GTPase activity;response to isolation stress;T-helper 1 type immune response;defense response to protozoan;positive regulation of MAP kinase activity;positive regulation of MAPK cascade;negative regulation of neuron apoptotic process;positive regulation of GTPase activity;positive regulation of DNA replication;positive regulation of transcription by RNA polymerase II;positive regulation of JNK cascade;positive regulation of Ras protein signal transduction;ephrin receptor signaling pathway;regulation of long-term neuronal synaptic plasticity;positive regulation of epithelial cell proliferation;T cell receptor signaling pathway;protein heterooligomerization;positive regulation of ERK1 and ERK2 cascade;cellular response to gamma radiation;positive regulation of wound healing;positive regulation of protein targeting to membrane;cellular senescence;intrinsic apoptotic signaling pathway;regulation of neurotransmitter receptor localization to postsynaptic specialization membrane;positive regulation of ruffle assembly;positive regulation of actin cytoskeleton reorganization;positive regulation of miRNA metabolic process
- Cellular component
- Golgi membrane;nucleus;cytoplasm;Golgi apparatus;cytosol;plasma membrane;perinuclear region of cytoplasm;glutamatergic synapse
- Molecular function
- GTPase activity;protein binding;GTP binding;protein C-terminus binding;GDP binding