Menu
GeneBe

RRAS

RAS related, the group of RAS type GTPase family

Basic information

Region (hg38): 19:49635291-49640143

Links

ENSG00000126458NCBI:6237OMIM:165090HGNC:10447Uniprot:P10301AlphaFoldGenCCjaxSfariGnomADPubmed

Phenotypes

GenCC

Source: genCC

  • Noonan syndrome (Moderate), mode of inheritance: AD
  • Noonan syndrome (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RRAS gene.

  • Noonan syndrome (182 variants)
  • Inborn genetic diseases (69 variants)
  • not specified (39 variants)
  • not provided (32 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RRAS gene is commonly pathogenic or not.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous 1 57 1 59
missense 96 7 1 104
nonsense 3 3
start loss 0
frameshift 1 2 3
inframe indel 0
splice variant 12 11 23
non coding 6 22 10 38
Total 0 1 120 97 12

Variants in RRAS

This is a list of pathogenic ClinVar variants found in the RRAS region.

Position Type Phenotype Significance ClinVar
19-49635346-G-A Uncertain significance (Feb 04, 2022)link
19-49635571-C-T not specified Uncertain significance (May 28, 2023)link
19-49635572-T-C not specified Benign (Apr 27, 2021)link
19-49635581-G-A Noonan syndrome • Inborn genetic diseases Likely benign (Feb 05, 2023)link
19-49635584-G-C Noonan syndrome Uncertain significance (Aug 30, 2021)link
19-49635587-C-T Noonan syndrome • Inborn genetic diseases Uncertain significance (Dec 15, 2022)link
19-49635588-G-A Noonan syndrome • Inborn genetic diseases Likely benign (Jun 14, 2022)link
19-49635590-A-G Noonan syndrome Uncertain significance (Jul 13, 2022)link
19-49635591-G-A Inborn genetic diseases • Noonan syndrome Likely benign (May 17, 2022)link
19-49635602-C-T Noonan syndrome • not specified Uncertain significance (Aug 06, 2022)link
19-49635603-G-A Inborn genetic diseases • Noonan syndrome Likely benign (Oct 17, 2022)link
19-49635606-C-A Noonan syndrome • not specified Uncertain significance (Jan 07, 2020)link
19-49635609-C-T Noonan syndrome Likely benign (Nov 01, 2021)link
19-49635610-T-C Noonan syndrome Uncertain significance (Sep 25, 2022)link
19-49635613-C-T Inborn genetic diseases Uncertain significance (Nov 05, 2021)link
19-49635619-G-A Noonan syndrome • Inborn genetic diseases Uncertain significance (Jul 14, 2022)link
19-49635620-C-T Inborn genetic diseases Likely benign (Dec 07, 2021)link
19-49635623-T-C Noonan syndrome Uncertain significance (Aug 05, 2022)link
19-49635633-C-T Noonan syndrome • not specified • Inborn genetic diseases Benign/Likely benign (Sep 03, 2022)link
19-49635634-G-A Noonan syndrome Uncertain significance (May 12, 2022)link
19-49635635-G-A Noonan syndrome Uncertain significance (Aug 27, 2022)link
19-49635648-T-C Inborn genetic diseases Likely benign (Jan 27, 2020)link
19-49635664-T-G not specified Uncertain significance (Dec 04, 2021)link
19-49635672-C-T Noonan syndrome Benign/Likely benign (Oct 25, 2022)link
19-49635673-G-A Noonan syndrome Likely benign (Jul 25, 2022)link

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RRASprotein_codingprotein_codingENST00000246792 64910
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.004660.8881256910561257470.000223
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6761101320.8340.000008571379
Missense in Polyphen3846.7680.81253487
Synonymous-0.04235958.61.010.00000420450
Loss of Function1.3759.560.5234.53e-7110

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00005890.0000589
Ashkenazi Jewish0.0001020.0000992
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.0004780.000457
Middle Eastern0.000.00
South Asian0.00003310.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Regulates the organization of the actin cytoskeleton (PubMed:16537651, PubMed:18270267). With OSPBL3, modulates integrin beta-1 (ITGB1) activity (PubMed:18270267). {ECO:0000269|PubMed:16537651, ECO:0000269|PubMed:18270267}.;
Pathway
Autophagy - animal - 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);cAMP signaling pathway - Homo sapiens (human);Apelin 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);Phospholipase D signaling pathway - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Cellular senescence - Homo sapiens (human);EGFR Inhibitor Pathway, Pharmacodynamics;Bisphosphonate Pathway, Pharmacodynamics;Vemurafenib Pathway, Pharmacodynamics;update your name in edit mode;G Protein Signaling Pathways;MAPK Signaling Pathway;Canonical and Non-canonical Notch signaling;MAPK and NFkB Signalling Pathways Inhibited by Yersinia YopJ;T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection;MAPK Cascade;Ras Signaling;Regulation of Actin Cytoskeleton;Developmental Biology;Regulation of Ras family activation;Neuronal System;Sema4D mediated inhibition of cell attachment and migration;Sema4D in semaphorin signaling;SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion;Semaphorin interactions;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses;Plexin-D1 Signaling;Axon guidance;CREB phosphorylation through the activation of Ras;Post NMDA receptor activation events;Activation of NMDA receptor and postsynaptic events;Signaling events mediated by focal adhesion kinase;EPHB forward signaling (Consensus)

Recessive Scores

pRec
0.199

Intolerance Scores

loftool
0.435
rvis_EVS
0.24
rvis_percentile_EVS
69.21

Haploinsufficiency Scores

pHI
0.193
hipred
Y
hipred_score
0.756
ghis
0.530

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.590

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rras
Phenotype
homeostasis/metabolism 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); hematopoietic system phenotype; neoplasm; immune system phenotype;

Zebrafish Information Network

Gene name
rras
Affected structure
vagal ganglion
Phenotype tag
abnormal
Phenotype quality
fused with

Gene ontology

Biological process
leukocyte differentiation;Ras protein signal transduction;negative regulation of cell migration;positive regulation of angiogenesis;regulation of protein kinase B signaling;face morphogenesis;regulation of ERK1 and ERK2 cascade
Cellular component
plasma membrane;focal adhesion;extracellular exosome
Molecular function
GTPase activity;protein binding;GTP binding;GDP binding;protein-containing complex binding