RICTOR
RPTOR independent companion of MTOR complex 2, the group of MTOR complex 2|Armadillo like helical domain containing
Basic information
Region (hg38): 5:38937920-39074402
Links
Phenotypes
GenCC
Source:
- Tourette syndrome (No Known Disease Relationship), mode of inheritance: Unknown
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RICTOR 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 | 6 | |||||
| missense | 43 | 44 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 0 | |||||
| Total | 0 | 2 | 43 | 4 | 2 |
Variants in RICTOR
This is a list of pathogenic ClinVar variants found in the RICTOR region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-38944552-C-T | not specified | Uncertain significance (May 06, 2024) | ||
| 5-38944990-G-A | not specified | Uncertain significance (Apr 06, 2023) | ||
| 5-38945513-C-A | Likely benign (Feb 01, 2024) | |||
| 5-38945524-T-A | not specified | Uncertain significance (Jan 30, 2024) | ||
| 5-38945716-A-G | not specified | Uncertain significance (Mar 11, 2024) | ||
| 5-38946506-T-C | not specified | Uncertain significance (Aug 17, 2021) | ||
| 5-38946520-GT-G | Inborn genetic diseases | Likely pathogenic (Apr 25, 2016) | ||
| 5-38946542-A-C | not specified | Uncertain significance (Jun 05, 2023) | ||
| 5-38947271-A-G | Neoplasm | - (-) | ||
| 5-38947349-C-G | not specified | Uncertain significance (Sep 22, 2023) | ||
| 5-38947437-T-G | not specified | Uncertain significance (May 20, 2024) | ||
| 5-38949424-G-A | Likely benign (Apr 01, 2024) | |||
| 5-38949766-G-A | not specified | Uncertain significance (Apr 22, 2022) | ||
| 5-38949806-A-G | not specified | Uncertain significance (Mar 25, 2024) | ||
| 5-38949825-C-G | not specified | Uncertain significance (Mar 19, 2024) | ||
| 5-38949926-T-C | not specified | Uncertain significance (Jul 25, 2023) | ||
| 5-38949952-C-T | not specified | Uncertain significance (Apr 26, 2023) | ||
| 5-38950013-G-C | not specified | Uncertain significance (May 09, 2023) | ||
| 5-38950016-A-G | not specified | Uncertain significance (Apr 08, 2024) | ||
| 5-38950048-C-T | not specified | Uncertain significance (Oct 27, 2022) | ||
| 5-38950100-T-C | not specified | Uncertain significance (Feb 03, 2022) | ||
| 5-38950299-T-G | not specified | Uncertain significance (Nov 13, 2023) | ||
| 5-38950387-T-G | not specified | Uncertain significance (Dec 20, 2021) | ||
| 5-38950535-G-T | not specified | Uncertain significance (Jan 04, 2024) | ||
| 5-38950563-C-G | not specified | Uncertain significance (Mar 07, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RICTOR | protein_coding | protein_coding | ENST00000357387 | 38 | 136490 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.00 | 1.89e-10 | 125728 | 0 | 15 | 125743 | 0.0000596 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.05 | 637 | 894 | 0.713 | 0.0000457 | 11196 |
| Missense in Polyphen | 195 | 352.09 | 0.55383 | 4399 | ||
| Synonymous | 1.21 | 287 | 314 | 0.913 | 0.0000154 | 3244 |
| Loss of Function | 8.49 | 9 | 101 | 0.0890 | 0.00000637 | 1126 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000936 | 0.0000905 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000163 | 0.000109 |
| Finnish | 0.0000471 | 0.0000462 |
| European (Non-Finnish) | 0.0000530 | 0.0000527 |
| Middle Eastern | 0.000163 | 0.000109 |
| South Asian | 0.0000987 | 0.0000980 |
| Other | 0.000164 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient- insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 'Ser-473' phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on 'Thr-308' by PDK1 which is a prerequisite for full activation. mTORC2 regulates the phosphorylation of SGK1 at 'Ser-422'. mTORC2 also modulates the phosphorylation of PRKCA on 'Ser-657'. Plays an essential role in embryonic growth and development. {ECO:0000269|PubMed:15268862, ECO:0000269|PubMed:15467718, ECO:0000269|PubMed:15718470}.;
- Pathway
- mTOR signaling pathway - Homo sapiens (human);Target Of Rapamycin (TOR) Signaling;Androgen Receptor Network in Prostate Cancer;Oncostatin M Signaling Pathway;PI3K-AKT-mTOR signaling pathway and therapeutic opportunities;VEGFA-VEGFR2 Signaling Pathway;Angiopoietin Like Protein 8 Regulatory Pathway;Steatosis AOP;EGF-EGFR Signaling Pathway;Disease;Signal Transduction;Gene expression (Transcription);VEGFA-VEGFR2 Pathway;Generic Transcription Pathway;CD28 dependent PI3K/Akt signaling;CD28 co-stimulation;Costimulation by the CD28 family;RNA Polymerase II Transcription;Oncostatin_M;Immune System;Ghrelin;Adaptive Immune System;insulin Mam;EGFR1;CXCR4-mediated signaling events;ErbB1 downstream signaling;Regulation of TP53 Degradation;Regulation of TP53 Expression and Degradation;PIP3 activates AKT signaling;Regulation of TP53 Activity;Transcriptional Regulation by TP53;Signaling by VEGF;Constitutive Signaling by AKT1 E17K in Cancer;PI3K/AKT Signaling in Cancer;Integrin-linked kinase signaling;Signaling by Receptor Tyrosine Kinases;Intracellular signaling by second messengers;mTOR signaling pathway;Diseases of signal transduction;CXCR3-mediated signaling events;Class I PI3K signaling events mediated by Akt;VEGFR2 mediated vascular permeability
(Consensus)
Intolerance Scores
- loftool
- 0.405
- rvis_EVS
- -0.28
- rvis_percentile_EVS
- 33.56
Haploinsufficiency Scores
- pHI
- hipred
- Y
- hipred_score
- 0.783
- ghis
- 0.535
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.772
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | High |
Mouse Genome Informatics
- Gene name
- Rictor
- Phenotype
- muscle phenotype; cellular phenotype; homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); 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; growth/size/body region phenotype; skeleton phenotype; renal/urinary system phenotype; immune system phenotype; liver/biliary system phenotype; embryo phenotype; neoplasm;
Gene ontology
- Biological process
- positive regulation of endothelial cell proliferation;embryo development ending in birth or egg hatching;regulation of gene expression;viral process;peptidyl-serine phosphorylation;establishment of cell polarity;positive regulation of actin filament polymerization;establishment or maintenance of actin cytoskeleton polarity;actin cytoskeleton reorganization;TOR signaling;positive regulation of TOR signaling;activation of protein kinase B activity;regulation of actin cytoskeleton organization;regulation of peptidyl-serine phosphorylation;regulation of phosphorylation;regulation of GTPase activity;regulation of inflammatory response;positive regulation of peptidyl-tyrosine phosphorylation;regulation of protein kinase B signaling;positive regulation of protein kinase B signaling;regulation of establishment of cell polarity
- Cellular component
- cytosol;TORC2 complex
- Molecular function
- protein binding;enzyme activator activity;protein kinase binding;ribosome binding