DIRAS3

DIRAS family GTPase 3, the group of RAS type GTPase family

Basic information

Region (hg38): 1:68045886-68051717

Previous symbols: [ "ARHI" ]

Links

ENSG00000162595 ∙ NCBI:9077 ∙ OMIM:605193 ∙ HGNC:687 ∙ Uniprot:O95661 ∙ 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 DIRAS3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DIRAS3 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				1		1
missense			9	1		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	9	2	0

Variants in DIRAS3

This is a list of pathogenic ClinVar variants found in the DIRAS3 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-68046648-T-C		not specified	Uncertain significance (Apr 11, 2023)
1-68046705-T-C		not specified	Uncertain significance (Sep 13, 2023)
1-68046751-T-C		not specified	Uncertain significance (Aug 13, 2021)
1-68046778-T-G		not specified	Uncertain significance (Feb 06, 2024)
1-68046785-C-T		not specified	Uncertain significance (Jun 27, 2023)
1-68046792-C-T		not specified	Likely benign (Mar 15, 2024)
1-68046913-C-T		not specified	Uncertain significance (Jun 08, 2022)
1-68046942-G-C		not specified	Uncertain significance (May 07, 2024)
1-68046993-T-C		not specified	Uncertain significance (Apr 08, 2024)
1-68047002-C-A		not specified	Uncertain significance (Aug 02, 2021)
1-68047091-G-A		DIRAS3-related disorder	Likely benign (May 16, 2022)
1-68047156-C-T		not specified	Uncertain significance (Apr 13, 2023)
1-68047207-G-A		not specified	Likely benign (Dec 08, 2021)
1-68047219-G-C		not specified	Uncertain significance (May 21, 2024)
1-68047246-G-A		not specified	Uncertain significance (Apr 09, 2024)
1-68047263-T-C		not specified	Uncertain significance (Dec 21, 2022)
1-68047288-C-A		not specified	Likely benign (May 30, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DIRAS3	protein_coding	protein_coding	ENST00000370981	1	5670

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.997	111	145	0.767	0.0000101	1504
Missense in Polyphen		29	47.744	0.6074		504
Synonymous	-0.737	74	66.4	1.12	0.00000501	468
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.154

Intolerance Scores

• loftool: 0.560
• rvis_EVS: -0.05
• rvis_percentile_EVS: 49.76

Haploinsufficiency Scores

• pHI: 0.0775
• hipred: N
• hipred_score: 0.372
• ghis: 0.468

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.383

Gene Damage Prediction

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

Gene ontology

• Biological process: regulation of cyclin-dependent protein serine/threonine kinase activity;regulation of gene expression by genetic imprinting;small GTPase mediated signal transduction
• Cellular component: plasma membrane
• Molecular function: GTPase activity;protein binding;GTP binding