DRG1

developmentally regulated GTP binding protein 1

Basic information

Region (hg38): 22:31399604-31528740

Previous symbols: [ "NEDD3" ]

Links

ENSG00000185721 ∙ NCBI:4733 ∙ OMIM:603952 ∙ HGNC:3029 ∙ Uniprot:Q9Y295 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• complex neurodevelopmental disorder (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Tan-Almurshedi syndrome	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Craniofacial; Dermatologic; Endocrine; Musculoskeletal; Neurologic	37179472

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DRG1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DRG1 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		1	6			7
nonsense		3				3
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region						0
non coding						0
Total	0	4	7	0	0

Variants in DRG1

This is a list of pathogenic ClinVar variants found in the DRG1 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-31400619-G-T		Neurodevelopmental disorder	Uncertain significance (Jan 01, 2019)
22-31400695-C-T		Flexion contracture	Likely pathogenic (-)
22-31400704-A-G		not specified	Uncertain significance (Sep 01, 2021)
22-31400723-G-C		not specified	Uncertain significance (Jun 17, 2024)
22-31400737-G-T		Tan-Almurshedi syndrome	Likely pathogenic (Mar 03, 2024)
22-31403059-G-A		not specified	Uncertain significance (Dec 16, 2023)
22-31420261-C-T		Tan-Almurshedi syndrome	Likely pathogenic (Mar 03, 2024)
22-31420285-G-A		not specified	Uncertain significance (May 01, 2024)
22-31423295-C-A		not specified	Uncertain significance (Jan 08, 2024)
22-31423365-G-A		not specified	Uncertain significance (Jun 26, 2023)
22-31426643-AA-TT		Tan-Almurshedi syndrome	Likely pathogenic (Mar 03, 2024)
22-31426688-A-T		Tan-Almurshedi syndrome	Likely pathogenic (Mar 03, 2024)
22-31427121-A-G		not specified	Uncertain significance (Jan 08, 2024)
22-31427178-A-G		not specified	Uncertain significance (Jun 10, 2022)
22-31439889-G-A			Likely benign (Dec 26, 2018)
22-31440002-T-G		not specified	Uncertain significance (Jul 07, 2024)
22-31440007-C-T		not specified	Uncertain significance (Jun 22, 2023)
22-31440023-A-C		not specified	Uncertain significance (Dec 04, 2023)
22-31440043-G-A		not specified	Uncertain significance (Apr 09, 2022)
22-31440077-C-G		not specified	Uncertain significance (Sep 10, 2024)
22-31440731-T-C		not specified	Uncertain significance (Jul 09, 2024)
22-31440752-C-T		not specified	Uncertain significance (May 05, 2022)
22-31440758-G-A		not specified	Uncertain significance (Sep 08, 2024)
22-31440772-G-A		not specified	Uncertain significance (Nov 17, 2023)
22-31440856-G-A		not specified	Uncertain significance (Sep 10, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DRG1	protein_coding	protein_coding	ENST00000331457	9	129218

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.329	0.670	125742	0	5	125747	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.21	114	202	0.563	0.0000102	2395
Missense in Polyphen		31	65.967	0.46993		888
Synonymous	-0.331	75	71.4	1.05	0.00000328	734
Loss of Function	2.96	4	17.3	0.231	9.45e-7	216

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000264	0.0000264
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Critical regulator of cell growth under specific conditions. Implicated in differentiation and cell cycle arrest.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.243
• rvis_EVS: -0.19
• rvis_percentile_EVS: 39.68

Haploinsufficiency Scores

• pHI: 0.727
• hipred: Y
• hipred_score: 0.833
• ghis: 0.645

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.973

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Drg1

Gene ontology

• Biological process: cytoplasmic translation;transcription, DNA-templated;multicellular organism development
• Cellular component: cytoplasm;cytosol;polysome;membrane;nuclear body
• Molecular function: protein binding;GTP binding;transcription factor binding;identical protein binding