DNAI3

dynein axonemal intermediate chain 3, the group of Dyneins, axonemal inner arm I1/f complex subunits|WD repeat domain containing

Basic information

Region (hg38): 1:84999147-85133138

Previous symbols: [ "WDR63" ]

Links

ENSG00000162643 ∙ NCBI:126820 ∙ OMIM:617968 ∙ HGNC:30711 ∙ Uniprot:Q8IWG1 ∙ 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 DNAI3 gene.

• not_specified (107 variants)
• not_provided (17 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAI3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000145172.5. 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				4	7	11
missense			102	4	2	108
nonsense						0
start loss						0
frameshift					1	1
splice donor/acceptor (+/-2bp)						0
Total	0	0	102	8	10

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAI3	protein_coding	protein_coding	ENST00000294664	22	133992

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.90e-13	0.999	125600	0	148	125748	0.000589

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.02	410	472	0.868	0.0000235	5926
Missense in Polyphen		72	109.88	0.65528		1387
Synonymous	0.340	154	159	0.966	0.00000870	1548
Loss of Function	2.98	29	52.2	0.555	0.00000279	620

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00159	0.00157
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000222	0.000217
Finnish	0.000601	0.000601
European (Non-Finnish)	0.000514	0.000510
Middle Eastern	0.000222	0.000217
South Asian	0.000917	0.000915
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.933
• rvis_EVS: -0.69
• rvis_percentile_EVS: 15.32

Haploinsufficiency Scores

• pHI: 0.0973
• hipred: N
• hipred_score: 0.462
• ghis: 0.457

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.186

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wdr63

Gene ontology

• Biological process: microtubule-based movement
• Cellular component: dynein complex
• Molecular function: ATP-dependent microtubule motor activity, plus-end-directed;dynein light chain binding;dynein heavy chain binding