RRAGB
Ras related GTP binding B, the group of Ras related GTP binding proteins
Basic information
Region (hg38): X:55717749-55758774
Links
Phenotypes
GenCC
Source:
No genCC data.
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 RRAGB 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 | 0 | |||||
| missense | 15 | 16 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 0 | |||||
| Total | 0 | 0 | 15 | 1 | 0 |
Variants in RRAGB
This is a list of pathogenic ClinVar variants found in the RRAGB region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| X-55718365-A-G | not specified | Uncertain significance (Feb 13, 2024) | ||
| X-55718367-A-G | not specified | Uncertain significance (May 18, 2023) | ||
| X-55718370-C-G | not specified | Likely benign (Jun 29, 2023) | ||
| X-55718391-C-T | not specified | Uncertain significance (Jun 03, 2022) | ||
| X-55719336-A-G | not specified | Uncertain significance (Dec 12, 2024) | ||
| X-55722192-T-A | not specified | Uncertain significance (Oct 12, 2022) | ||
| X-55722243-G-A | not specified | Uncertain significance (Dec 12, 2023) | ||
| X-55722279-G-A | not specified | Uncertain significance (Jun 24, 2022) | ||
| X-55727351-A-G | not specified | Uncertain significance (Apr 15, 2024) | ||
| X-55727378-A-G | not specified | Uncertain significance (Mar 06, 2023) | ||
| X-55731417-G-A | not specified | Uncertain significance (Oct 05, 2023) | ||
| X-55731454-G-T | not specified | Uncertain significance (Dec 18, 2023) | ||
| X-55731479-C-T | not specified | Uncertain significance (Nov 11, 2024) | ||
| X-55731531-A-G | not specified | Uncertain significance (Oct 28, 2024) | ||
| X-55753422-C-T | not specified | Uncertain significance (Aug 10, 2024) | ||
| X-55753509-T-C | Autism | Uncertain significance (-) | ||
| X-55755837-A-G | Benign (Dec 13, 2018) | |||
| X-55755887-T-C | not specified | Uncertain significance (Jan 08, 2024) | ||
| X-55757314-T-C | not specified | Uncertain significance (Feb 13, 2024) | ||
| X-55758273-G-A | not specified | Uncertain significance (Feb 05, 2025) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RRAGB | protein_coding | protein_coding | ENST00000262850 | 11 | 41036 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.836 | 0.164 | 125169 | 2 | 0 | 125171 | 0.00000799 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.94 | 74 | 138 | 0.535 | 0.0000109 | 2494 |
| Missense in Polyphen | 10 | 32.37 | 0.30893 | 651 | ||
| Synonymous | -0.385 | 49 | 45.7 | 1.07 | 0.00000330 | 668 |
| Loss of Function | 3.07 | 2 | 14.7 | 0.136 | 0.00000126 | 235 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000766 | 0.0000618 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000126 | 0.00000883 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade. Forms heterodimeric Rag complexes with RRAGC or RRAGD and cycles between an inactive GDP-bound and an active GTP-bound form. In its active form participates in the relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. Involved in the RCC1/Ran-GTPase pathway. {ECO:0000269|PubMed:18497260, ECO:0000269|PubMed:20381137, ECO:0000269|PubMed:23723238, ECO:0000269|PubMed:9394008}.;
- Pathway
- mTOR signaling pathway - Homo sapiens (human);Autophagy - animal - Homo sapiens (human);Target Of Rapamycin (TOR) Signaling;Signal Transduction;Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription;mTORC1-mediated signalling;Energy dependent regulation of mTOR by LKB1-AMPK;mTOR signalling;TP53 Regulates Metabolic Genes;Macroautophagy;Cellular responses to external stimuli;Regulation of PTEN gene transcription;PTEN Regulation;PIP3 activates AKT signaling;Transcriptional Regulation by TP53;Intracellular signaling by second messengers;mTOR signaling pathway
(Consensus)
Recessive Scores
- pRec
- 0.127
Intolerance Scores
- loftool
- 0.128
- rvis_EVS
- -0.14
- rvis_percentile_EVS
- 42.88
Haploinsufficiency Scores
- pHI
- 0.206
- hipred
- Y
- hipred_score
- 0.698
- ghis
- 0.635
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.781
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rragb
- Phenotype
- normal phenotype;
Gene ontology
- Biological process
- cell cycle arrest;cellular response to starvation;regulation of autophagy;regulation of macroautophagy;regulation of TOR signaling;positive regulation of TOR signaling;cellular response to amino acid starvation;cellular protein localization;cellular response to amino acid stimulus;positive regulation of TORC1 signaling;cellular response to leucine starvation
- Cellular component
- nucleus;cytoplasm;lysosome;lysosomal membrane;cytosol;EGO complex;Gtr1-Gtr2 GTPase complex
- Molecular function
- GTPase activity;protein binding;GTP binding;guanyl ribonucleotide binding;protein heterodimerization activity;GTPase binding