DIRAS2

DIRAS family GTPase 2, the group of RAS type GTPase family

Basic information

Region (hg38): 9:90609831-90642862

Links

ENSG00000165023 ∙ NCBI:54769 ∙ OMIM:607863 ∙ HGNC:19323 ∙ Uniprot:Q96HU8 ∙ 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 DIRAS2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DIRAS2 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					2	2
missense			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	2

Variants in DIRAS2

This is a list of pathogenic ClinVar variants found in the DIRAS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-90613258-C-A		not specified	Uncertain significance (Dec 13, 2022)
9-90613414-G-A			Benign (Jun 19, 2018)
9-90613670-C-T		not specified	Uncertain significance (Apr 07, 2022)
9-90613675-G-A			Benign (Sep 14, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DIRAS2	protein_coding	protein_coding	ENST00000375765	1	33273

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.478	0.501	125742	0	5	125747	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.96	64	126	0.508	0.00000872	1326
Missense in Polyphen		13	58.248	0.22319		616
Synonymous	0.144	53	54.4	0.975	0.00000424	374
Loss of Function	1.85	1	5.83	0.171	3.40e-7	64

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Displays low GTPase activity and exists predominantly in the GTP-bound form. {ECO:0000269|PubMed:12194967}.

Recessive Scores

• pRec: 0.142

Intolerance Scores

• loftool: 0.431
• rvis_EVS: -0.14
• rvis_percentile_EVS: 42.88

Haploinsufficiency Scores

• pHI: 0.187
• hipred: Y
• hipred_score: 0.662
• ghis: 0.642

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.531

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Diras2

Gene ontology

• Biological process: signal transduction;positive regulation of MAP kinase activity
• Cellular component: plasma membrane
• Molecular function: GTPase activity;GTP binding