DNAAF10

dynein axonemal assembly factor 10, the group of WD repeat domain containing|Axonemal dynein assembly factors

Basic information

Region (hg38): 2:68122935-68157549

Previous symbols: [ "WDR92" ]

Links

ENSG00000243667 ∙ NCBI:116143 ∙ OMIM:610729 ∙ HGNC:25176 ∙ Uniprot:Q96MX6 ∙ 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 DNAAF10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAAF10 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			15	2		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	2	0

Variants in DNAAF10

This is a list of pathogenic ClinVar variants found in the DNAAF10 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-68131261-C-T		not specified	Uncertain significance (Jan 23, 2024)
2-68131300-C-T		not specified	Likely benign (May 03, 2023)
2-68131317-T-C		not specified	Uncertain significance (Feb 05, 2024)
2-68131321-G-T		not specified	Uncertain significance (Sep 27, 2022)
2-68131422-T-C		not specified	Uncertain significance (Feb 27, 2023)
2-68131428-C-T		not specified	Uncertain significance (Aug 02, 2021)
2-68131429-G-A		not specified	Uncertain significance (Aug 17, 2022)
2-68131435-T-C		not specified	Likely benign (Oct 29, 2021)
2-68134715-G-T		not specified	Uncertain significance (Nov 03, 2023)
2-68137391-T-C		not specified	Uncertain significance (Dec 12, 2023)
2-68137403-T-G		not specified	Uncertain significance (Oct 06, 2021)
2-68138792-A-C		not specified	Uncertain significance (May 13, 2024)
2-68157272-G-C		not specified	Uncertain significance (May 31, 2023)
2-68157284-C-T		not specified	Uncertain significance (Jan 20, 2023)
2-68157358-C-T		not specified	Uncertain significance (Jun 29, 2022)
2-68157361-G-C		not specified	Uncertain significance (May 14, 2024)
2-68157362-G-T		not specified	Uncertain significance (Aug 24, 2022)
2-68157373-C-G		not specified	Uncertain significance (May 09, 2024)
2-68157425-G-A		not specified	Uncertain significance (Mar 29, 2022)
2-68157430-T-C		not specified	Uncertain significance (Jun 16, 2024)
2-68157437-C-T		not specified	Uncertain significance (Jun 28, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAAF10	protein_coding	protein_coding	ENST00000295121	8	34625

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00848	0.989	125718	0	30	125748	0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.677	172	199	0.865	0.00000998	2339
Missense in Polyphen		49	67.954	0.72108		780
Synonymous	-0.283	78	74.9	1.04	0.00000402	676
Loss of Function	2.65	7	19.7	0.355	0.00000101	224

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000182	0.000178
Ashkenazi Jewish	0.00	0.00
East Asian	0.000385	0.000381
Finnish	0.00	0.00
European (Non-Finnish)	0.000132	0.000132
Middle Eastern	0.000385	0.000381
South Asian	0.000101	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Seems to act as a modulator of apoptosis. {ECO:0000269|PubMed:16487927}.

Intolerance Scores

• loftool: 0.337
• rvis_EVS: 0.08
• rvis_percentile_EVS: 60.31

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.314

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.731

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wdr92

Gene ontology

• Biological process: apoptotic process
• Molecular function: protein binding;ubiquitin binding