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

No genCC data.

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.

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.

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			22	2		24
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	22	2	2

Variants in DAW1

This is a list of pathogenic ClinVar variants found in the DAW1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-227871697-T-A		not specified	Uncertain significance (Oct 29, 2024)
2-227871709-T-C		not specified	Uncertain significance (Feb 07, 2023)
2-227871710-G-T			Benign (Dec 28, 2017)
2-227871724-C-A		not specified	Uncertain significance (Jul 10, 2024)
2-227885378-G-A		not specified	Uncertain significance (Oct 26, 2022)
2-227889866-A-G		not specified	Uncertain significance (Dec 20, 2021)
2-227889867-G-C		not specified	Uncertain significance (Oct 20, 2023)
2-227889870-C-T		not specified	Uncertain significance (Dec 28, 2023)
2-227889893-G-A		DAW1-related disorder	Likely benign (Feb 24, 2022)
2-227889939-T-A		Primary ciliary dyskinesia • Ciliary dyskinesia, primary, 52	Pathogenic (Nov 07, 2023)
2-227889965-G-A		not specified	Uncertain significance (Dec 06, 2022)
2-227889966-G-A		not specified	Uncertain significance (Oct 12, 2021)
2-227889984-C-T		not specified	Uncertain significance (Aug 16, 2022)
2-227893824-G-C		not specified	Uncertain significance (Nov 24, 2024)
2-227893829-C-T		not specified	Uncertain significance (Sep 27, 2022)
2-227893834-G-A		Primary ciliary dyskinesia • Ciliary dyskinesia, primary, 52	Pathogenic (Nov 07, 2023)
2-227893871-G-A		not specified	Uncertain significance (Jun 14, 2023)
2-227893904-A-G		Primary ciliary dyskinesia • Ciliary dyskinesia, primary, 52	Pathogenic (Nov 07, 2023)
2-227893908-A-G		not specified	Uncertain significance (Oct 12, 2021)
2-227893910-C-T		not specified	Uncertain significance (Oct 06, 2021)
2-227898222-C-A		not specified	Uncertain significance (Nov 10, 2024)
2-227898261-A-G		not specified	Uncertain significance (Jun 07, 2024)
2-227902992-TG-T			Benign (Apr 30, 2018)
2-227903006-G-T		not specified	Uncertain significance (May 11, 2022)
2-227903039-C-T		not specified	Uncertain significance (Mar 23, 2023)

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