DRC3

dynein regulatory complex subunit 3, the group of Cilia and flagella associated|Dynein regulatory complex

Basic information

Region (hg38): 17:17972813-18016889

Previous symbols: [ "LRRC48" ]

Links

ENSG00000171962 ∙ NCBI:83450 ∙ OMIM:618758 ∙ HGNC:25384 ∙ Uniprot:Q9H069 ∙ 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 DRC3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DRC3 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			30	4		34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	30	6	0

Variants in DRC3

This is a list of pathogenic ClinVar variants found in the DRC3 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-17977619-G-T			Likely benign (Apr 01, 2023)
17-17977644-G-C		not specified	Uncertain significance (Sep 04, 2024)
17-17977662-G-A		not specified	Uncertain significance (Feb 27, 2024)
17-17983828-A-G		not specified	Uncertain significance (Nov 14, 2023)
17-17983830-A-G		not specified	Uncertain significance (Dec 27, 2023)
17-17983839-A-G		not specified	Uncertain significance (Jul 02, 2024)
17-17983872-A-G			Likely benign (Jan 01, 2023)
17-17983912-G-T		not specified	Uncertain significance (Sep 22, 2023)
17-17983935-G-C		not specified	Uncertain significance (Feb 23, 2023)
17-17987958-A-G		not specified	Uncertain significance (Aug 23, 2021)
17-17988013-G-A		not specified	Uncertain significance (Oct 03, 2022)
17-17988045-G-A		not specified	Uncertain significance (Jan 31, 2023)
17-17988070-G-A		not specified	Uncertain significance (Jul 06, 2021)
17-17992834-G-A		not specified	Uncertain significance (Jun 02, 2024)
17-17992851-C-A		not specified	Uncertain significance (Jul 30, 2024)
17-17992894-C-T		not specified	Uncertain significance (Feb 05, 2024)
17-17992895-G-A		not specified	Uncertain significance (Jul 27, 2022)
17-17994359-C-G		not specified	Uncertain significance (Jun 13, 2022)
17-17994368-G-A		not specified	Uncertain significance (Jan 29, 2024)
17-17994379-G-C		not specified	Uncertain significance (Nov 23, 2021)
17-17994390-C-T		not specified	Uncertain significance (Sep 26, 2023)
17-17994395-C-T		not specified	Uncertain significance (Feb 28, 2023)
17-17995027-C-T		not specified	Uncertain significance (Aug 22, 2023)
17-17995053-G-A		not specified	Uncertain significance (Dec 07, 2024)
17-17997528-G-A		not specified	Uncertain significance (Aug 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DRC3	protein_coding	protein_coding	ENST00000313838	12	44077

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.50e-9	0.707	124610	0	45	124655	0.000181

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.222	304	315	0.965	0.0000193	3504
Missense in Polyphen		56	70.047	0.79946		827
Synonymous	0.329	134	139	0.965	0.00000945	937
Loss of Function	1.40	17	24.5	0.694	0.00000127	278

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000560	0.000558
Ashkenazi Jewish	0.00	0.00
East Asian	0.000171	0.000167
Finnish	0.00	0.00
European (Non-Finnish)	0.000211	0.000204
Middle Eastern	0.000171	0.000167
South Asian	0.000167	0.000163
Other	0.000174	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. {ECO:0000250|UniProtKB:A8IVX2}.

Intolerance Scores

• rvis_EVS: 0.56
• rvis_percentile_EVS: 81.63

Haploinsufficiency Scores

• pHI: 0.108
• hipred: N
• hipred_score: 0.231
• ghis: 0.468

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Drc3
• Phenotype: craniofacial phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); skeleton phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Cellular component: cytoplasm;axoneme;motile cilium