DNAAF8

dynein axonemal assembly factor 8, the group of Axonemal dynein assembly factors

Basic information

Region (hg38): 16:4734344-4749396

Previous symbols: [ "C16orf71" ]

Links

ENSG00000166246 ∙ NCBI:146562 ∙ ∙ HGNC:25081 ∙ Uniprot:Q8IYS4 ∙ 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 DNAAF8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAAF8 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			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in DNAAF8

This is a list of pathogenic ClinVar variants found in the DNAAF8 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-4736572-A-G		not specified	Uncertain significance (Aug 12, 2021)
16-4737875-C-G		not specified	Uncertain significance (Aug 17, 2021)
16-4740200-G-C		not specified	Uncertain significance (Jul 27, 2021)
16-4740311-G-C		not specified	Uncertain significance (Oct 22, 2021)
16-4740318-G-A		not specified	Uncertain significance (Sep 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAAF8	protein_coding	protein_coding	ENST00000299320	8	15125

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.91e-20	0.000776	125641	1	106	125748	0.000426

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.41	368	299	1.23	0.0000168	3334
Missense in Polyphen		144	119.63	1.2037		1474
Synonymous	-1.02	145	130	1.11	0.00000831	1084
Loss of Function	-0.501	28	25.3	1.11	0.00000137	256

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00134	0.00134
Ashkenazi Jewish	0.00	0.00
East Asian	0.000496	0.000435
Finnish	0.00	0.00
European (Non-Finnish)	0.000348	0.000343
Middle Eastern	0.000496	0.000435
South Asian	0.000430	0.000425
Other	0.000828	0.000815

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.939
• rvis_EVS: 1.41
• rvis_percentile_EVS: 94.77

Haploinsufficiency Scores

• pHI: 0.0799
• hipred: N
• hipred_score: 0.123
• ghis: 0.419

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: 4930451G09Rik