RHOBTB1

Rho related BTB domain containing 1, the group of BTB domain containing|Rho family GTPases

Basic information

Region (hg38): 10:60869438-61001440

Links

ENSG00000072422 ∙ NCBI:9886 ∙ OMIM:607351 ∙ HGNC:18738 ∙ Uniprot:O94844 ∙ 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 RHOBTB1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHOBTB1 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			21	1		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	1	0

Variants in RHOBTB1

This is a list of pathogenic ClinVar variants found in the RHOBTB1 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-60871525-C-G		not specified	Uncertain significance (Feb 09, 2022)
10-60871565-G-C		not specified	Uncertain significance (Sep 07, 2022)
10-60871579-C-T		not specified	Uncertain significance (Jun 17, 2024)
10-60872211-C-A		not specified	Uncertain significance (Jun 04, 2024)
10-60872276-G-T		not specified	Uncertain significance (Jul 31, 2023)
10-60874971-A-G		not specified	Uncertain significance (Apr 08, 2022)
10-60878028-T-C		not specified	Uncertain significance (May 04, 2022)
10-60878035-C-A		not specified	Uncertain significance (May 16, 2024)
10-60878046-T-A		not specified	Uncertain significance (Oct 26, 2022)
10-60886189-T-C		not specified	Uncertain significance (Oct 02, 2023)
10-60888274-T-G		not specified	Uncertain significance (Dec 12, 2023)
10-60888310-A-G		not specified	Uncertain significance (Oct 10, 2023)
10-60888392-T-C		not specified	Uncertain significance (Dec 15, 2022)
10-60888410-T-C		not specified	Uncertain significance (Jun 14, 2022)
10-60888434-G-A		not specified	Uncertain significance (Nov 22, 2023)
10-60888551-C-G		not specified	Uncertain significance (Apr 20, 2023)
10-60888628-T-G		not specified	Likely benign (Aug 05, 2023)
10-60888734-C-T		not specified	Uncertain significance (May 27, 2022)
10-60888952-G-A		not specified	Uncertain significance (Feb 21, 2024)
10-60888956-C-A		not specified	Uncertain significance (May 20, 2024)
10-60889123-C-A		not specified	Uncertain significance (Sep 17, 2021)
10-60889144-C-T		not specified	Uncertain significance (Nov 20, 2023)
10-60892889-C-T		not specified	Uncertain significance (Sep 27, 2021)
10-60911421-G-A		not specified	Uncertain significance (May 10, 2024)
10-60911490-A-G		not specified	Uncertain significance (Dec 19, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RHOBTB1	protein_coding	protein_coding	ENST00000337910	9	132003

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000242	1.00	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.55	329	418	0.786	0.0000254	4600
Missense in Polyphen		157	240.01	0.65413		2561
Synonymous	0.0111	164	164	0.999	0.0000109	1328
Loss of Function	3.30	12	32.2	0.373	0.00000184	358

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000578	0.0000578
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000106	0.000105
Middle Eastern	0.000109	0.000109
South Asian	0.000133	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Ubiquitin mediated proteolysis - Homo sapiens (human);Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases (Consensus)

Recessive Scores

• pRec: 0.137

Intolerance Scores

• loftool: 0.608
• rvis_EVS: -0.71
• rvis_percentile_EVS: 14.67

Haploinsufficiency Scores

• pHI: 0.355
• hipred: Y
• hipred_score: 0.603
• ghis: 0.521

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.336

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rhobtb1

Gene ontology

• Biological process: cell morphogenesis;actin filament organization;Rho protein signal transduction;cell migration;actin cytoskeleton organization;positive regulation of actin filament polymerization;actin cytoskeleton reorganization;engulfment of apoptotic cell;regulation of small GTPase mediated signal transduction
• Cellular component: cytoplasm;cytosol;cytoskeleton;plasma membrane;cell projection
• Molecular function: GTPase activity;GTP binding;protein kinase binding