DIRAS1

DIRAS family GTPase 1, the group of RAS type GTPase family

Basic information

Region (hg38): 19:2714567-2721372

Links

ENSG00000176490 ∙ NCBI:148252 ∙ OMIM:607862 ∙ HGNC:19127 ∙ Uniprot:O95057 ∙ 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 DIRAS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DIRAS1 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			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	0

Variants in DIRAS1

This is a list of pathogenic ClinVar variants found in the DIRAS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-2717266-G-C		not specified	Uncertain significance (Mar 12, 2024)
19-2717374-C-A		not specified	Uncertain significance (Dec 01, 2023)
19-2717503-T-G		not specified	Likely benign (Mar 30, 2024)
19-2717545-C-T		not specified	Uncertain significance (Aug 30, 2022)
19-2717609-G-A		not specified	Likely benign (Mar 30, 2024)
19-2717686-C-T		not specified	Uncertain significance (Dec 04, 2024)
19-2717776-C-T		not specified	Uncertain significance (Jan 16, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DIRAS1	protein_coding	protein_coding	ENST00000323469	1	6852

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.388	0.573	124785	0	3	124788	0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.07	76	146	0.520	0.0000109	1297
Missense in Polyphen		25	70.129	0.35649		633
Synonymous	0.138	70	71.5	0.979	0.00000612	392
Loss of Function	1.64	1	4.92	0.203	2.12e-7	53

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000179	0.0000177
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
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: 0.129

Intolerance Scores

• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.54

Haploinsufficiency Scores

• pHI: 0.158
• hipred: Y
• hipred_score: 0.627
• ghis: 0.673

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.327

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Diras1

Zebrafish Information Network

• Gene name: diras1b
• Affected structure: trigeminal ganglion
• Phenotype tag: abnormal
• Phenotype quality: decreased size

Gene ontology

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