DRC7

dynein regulatory complex subunit 7, the group of Cilia and flagella associated|Dynein regulatory complex

Basic information

Region (hg38): 16:57694793-57731805

Previous symbols: [ "C16orf50", "CCDC135" ]

Links

ENSG00000159625 ∙ NCBI:84229 ∙ OMIM:618769 ∙ HGNC:25289 ∙ Uniprot:Q8IY82 ∙ 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 DRC7 gene.

• not_specified (127 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DRC7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001289162.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			125	3		128
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	125	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DRC7	protein_coding	protein_coding	ENST00000360716	17	37013

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.76e-15	0.957	125625	1	122	125748	0.000489

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.734	504	553	0.912	0.0000355	5778
Missense in Polyphen		203	203.54	0.99736		2185
Synonymous	1.46	197	225	0.876	0.0000147	1598
Loss of Function	2.35	31	48.7	0.636	0.00000250	550

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000540	0.000539
Ashkenazi Jewish	0.00100	0.000993
East Asian	0.000545	0.000544
Finnish	0.0000926	0.0000924
European (Non-Finnish)	0.000524	0.000519
Middle Eastern	0.000545	0.000544
South Asian	0.000882	0.000850
Other	0.000490	0.000489

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. Involved in the regulation of flagellar motility. {ECO:0000250|UniProtKB:A8JAM0}.

Recessive Scores

• pRec: 0.103

Intolerance Scores

• rvis_EVS: 0.72
• rvis_percentile_EVS: 85.88

Haploinsufficiency Scores

• pHI: 0.234
• hipred: N
• hipred_score: 0.229
• ghis: 0.423

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Drc7

Gene ontology

• Cellular component: cytoplasm;cytoskeleton;motile cilium
• Molecular function: protein binding