DAW1

dynein assembly factor with WD repeats 1, the group of WD repeat domain containing|Axonemal dynein assembly factors

Basic information

Region (hg38): 2:227871054-227924344

Previous symbols: [ "WDR69" ]

Links

ENSG00000123977 ∙ NCBI:164781 ∙ OMIM:620279 ∙ HGNC:26383 ∙ Uniprot:Q8N136 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• ciliary dyskinesia, primary, 52 (Moderate), mode of inheritance: AR
• ciliary dyskinesia, primary, 52 (Moderate), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Ciliary dyskinesia, primary, 52	AR	Allergy/Immunology/Infectious; Cardiovascular; Pulmonary	The condition may involve frequent respiratory and other infections, and awareness may allow prompt management as well as measures to optimize pulmonary health; Individuals may require surgery or other interventions related to congenital cardiac malformations	Allergy/Immunology/Infectious; Cardiovascular; Gastrointestinal; Pulmonary	28991257; 36074124

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DAW1 gene.

• not_specified (51 variants)
• Ciliary_dyskinesia,_primary,_52 (6 variants)
• Primary_ciliary_dyskinesia (5 variants)
• not_provided (3 variants)
• DAW1-related_disorder (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DAW1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000178821.3. 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				3	1	4
missense	3		47	4		54
nonsense	2					2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	5	0	47	7	1

Highest pathogenic variant AF is 0.000011176653

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DAW1	protein_coding	protein_coding	ENST00000309931	13	53291

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000107	0.988	125713	0	35	125748	0.000139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.160	215	222	0.970	0.0000111	2713
Missense in Polyphen		63	80.396	0.78362		1012
Synonymous	0.0709	84	84.8	0.990	0.00000495	762
Loss of Function	2.26	12	23.9	0.502	0.00000111	307

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000246	0.000244
Ashkenazi Jewish	0.00	0.00
East Asian	0.000357	0.000326
Finnish	0.00	0.00
European (Non-Finnish)	0.0000977	0.0000967
Middle Eastern	0.000357	0.000326
South Asian	0.000349	0.000327
Other	0.000660	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in axonemal outer row dynein assembly. {ECO:0000250}.

Recessive Scores

• pRec: 0.0943

Intolerance Scores

• rvis_EVS: 0.44
• rvis_percentile_EVS: 77.8

Haploinsufficiency Scores

• pHI: 0.0805
• hipred: N
• hipred_score: 0.288
• ghis: 0.385

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Daw1
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; respiratory system phenotype; liver/biliary system phenotype; immune system phenotype; digestive/alimentary phenotype; growth/size/body region phenotype; cellular phenotype

Zebrafish Information Network

• Gene name: daw1
• Affected structure: otolith
• Phenotype tag: abnormal
• Phenotype quality: mislocalised

Gene ontology

• Cellular component: cilium