RHEBL1

RHEB like 1, the group of RAS type GTPase family

Basic information

Region (hg38): 12:49064676-49070025

Links

ENSG00000167550 ∙ NCBI:121268 ∙ OMIM:618956 ∙ HGNC:21166 ∙ Uniprot:Q8TAI7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RHEBL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHEBL1 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in RHEBL1

This is a list of pathogenic ClinVar variants found in the RHEBL1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-49065120-G-A		not specified	Uncertain significance (Jun 11, 2021)
12-49065150-G-A		not specified	Uncertain significance (Sep 16, 2021)
12-49065356-C-A		not specified	Uncertain significance (Jun 02, 2023)
12-49065360-C-T		not specified	Uncertain significance (Dec 31, 2023)
12-49066250-C-T		not specified	Uncertain significance (May 31, 2023)
12-49066477-G-A		not specified	Uncertain significance (Jun 21, 2023)
12-49069037-T-C		not specified	Uncertain significance (Aug 20, 2023)
12-49069053-C-G		not specified	Uncertain significance (Mar 29, 2023)
12-49069064-G-A		not specified	Likely benign (Apr 16, 2024)
12-49069742-C-A		not specified	Uncertain significance (Nov 18, 2022)
12-49069767-T-C		not specified	Uncertain significance (Nov 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RHEBL1	protein_coding	protein_coding	ENST00000301068	8	5341

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000219	0.488	125713	0	35	125748	0.000139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.843	81	105	0.769	0.00000550	1182
Missense in Polyphen		20	26.573	0.75264		342
Synonymous	1.17	29	38.2	0.760	0.00000191	356
Loss of Function	0.706	10	12.7	0.786	6.07e-7	146

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000761	0.000761
Finnish	0.00	0.00
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.000761	0.000761
South Asian	0.0000980	0.0000980
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds GTP and exhibits intrinsic GTPase activity. May activate NF-kappa-B-mediated gene transcription. Promotes signal transduction through MTOR, activates RPS6KB1, and is a downstream target of the small GTPase-activating proteins TSC1 and TSC2. {ECO:0000269|PubMed:12869548, ECO:0000269|PubMed:16098514, ECO:0000269|PubMed:16328882, ECO:0000269|PubMed:17162089}.

Recessive Scores

• pRec: 0.0958

Intolerance Scores

• loftool: 0.744
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.26

Haploinsufficiency Scores

• pHI: 0.175
• hipred: N
• hipred_score: 0.333
• ghis: 0.529

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.694

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Rhebl1
• 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); normal phenotype

Gene ontology

• Biological process: TOR signaling;positive regulation of NF-kappaB transcription factor activity
• Cellular component: cytoplasm;endomembrane system;membrane
• Molecular function: GTPase activity;protein binding;GTP binding;metal ion binding