DNAAF9

dynein axonemal assembly factor 9, the group of Axonemal dynein assembly factors

Basic information

Region (hg38): 20:3249305-3407669

Previous symbols: [ "C20orf194" ]

Links

ENSG00000088854 ∙ NCBI:25943 ∙ OMIM:614146 ∙ HGNC:17721 ∙ Uniprot:Q5TEA3 ∙ 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 DNAAF9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAAF9 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

Variants in DNAAF9

This is a list of pathogenic ClinVar variants found in the DNAAF9 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-3259973-C-T		not specified	Uncertain significance (Aug 12, 2021)
20-3294574-G-A		not specified	Likely benign (Sep 27, 2021)
20-3375087-T-C		not specified	Uncertain significance (Sep 30, 2021)
20-3376273-C-T		not specified	Uncertain significance (Oct 27, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAAF9	protein_coding	protein_coding	ENST00000252032	37	158322

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.14e-12	1.00	124737	0	58	124795	0.000232

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.60	519	632	0.821	0.0000333	7768
Missense in Polyphen		167	216.05	0.77297		2761
Synonymous	0.526	220	230	0.956	0.0000125	2178
Loss of Function	4.38	33	73.5	0.449	0.00000378	853

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000757	0.000755
Ashkenazi Jewish	0.0000996	0.0000993
East Asian	0.000283	0.000278
Finnish	0.0000928	0.0000928
European (Non-Finnish)	0.000221	0.000221
Middle Eastern	0.000283	0.000278
South Asian	0.000328	0.000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as an effector for ARL3.

Intolerance Scores

• loftool: 0.719
• rvis_EVS: -0.81
• rvis_percentile_EVS: 12.07

Haploinsufficiency Scores

• pHI: 0.429
• hipred: Y
• hipred_score: 0.552
• ghis: 0.540

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: 4930402H24Rik
• Phenotype: homeostasis/metabolism phenotype

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component
• Molecular function: protein binding