DNAI4

dynein axonemal intermediate chain 4, the group of WD repeat domain containing|Dyneins, axonemal inner arm I1/f complex subunits

Basic information

Region (hg38): 1:66812885-66924856

Previous symbols: [ "WDR78" ]

Links

ENSG00000152763 ∙ NCBI:79819 ∙ OMIM:619156 ∙ HGNC:26252 ∙ Uniprot:Q5VTH9 ∙ 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 DNAI4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAI4 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			46	6		52
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	46	6	0

Variants in DNAI4

This is a list of pathogenic ClinVar variants found in the DNAI4 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-66822384-G-C		not specified	Uncertain significance (Feb 13, 2024)
1-66822487-G-T		not specified	Uncertain significance (Jan 24, 2023)
1-66822491-G-A		not specified	Uncertain significance (Nov 24, 2024)
1-66822498-T-A		not specified	Uncertain significance (Aug 11, 2024)
1-66826829-T-C		not specified	Uncertain significance (Dec 15, 2022)
1-66826877-T-C		not specified	Uncertain significance (Feb 22, 2023)
1-66826880-G-A		not specified	Uncertain significance (Sep 16, 2021)
1-66826943-G-A		not specified	Uncertain significance (Jan 23, 2024)
1-66826956-C-G		not specified	Uncertain significance (Jul 06, 2021)
1-66826983-C-A		not specified	Uncertain significance (Apr 25, 2022)
1-66826991-C-T		not specified	Uncertain significance (Mar 18, 2024)
1-66827023-C-A		not specified	Uncertain significance (Jul 17, 2024)
1-66827032-T-A		not specified	Uncertain significance (Nov 11, 2024)
1-66827888-C-T		not specified	Uncertain significance (Jan 03, 2024)
1-66827899-G-C		not specified	Uncertain significance (Nov 08, 2022)
1-66827906-G-C		not specified	Uncertain significance (Jan 18, 2023)
1-66833617-C-T		not specified	Uncertain significance (Dec 16, 2023)
1-66833619-T-G		not specified	Uncertain significance (Mar 13, 2023)
1-66833647-T-C		not specified	Uncertain significance (Jun 22, 2024)
1-66833661-C-G		not specified	Uncertain significance (Mar 29, 2024)
1-66833686-T-C		not specified	Uncertain significance (May 17, 2023)
1-66834002-A-G		not specified	Uncertain significance (Jul 27, 2021)
1-66834027-A-C		not specified	Likely benign (Jun 05, 2023)
1-66834032-C-A		not specified	Uncertain significance (Jun 17, 2024)
1-66834048-T-C		not specified	Uncertain significance (Jul 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAI4	protein_coding	protein_coding	ENST00000371026	17	112003

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.27e-17	0.690	125590	0	157	125747	0.000624

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0618	438	434	1.01	0.0000207	5541
Missense in Polyphen		84	95.306	0.88137		1237
Synonymous	-0.465	153	146	1.05	0.00000691	1583
Loss of Function	1.92	33	47.3	0.698	0.00000270	559

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00219	0.00216
Ashkenazi Jewish	0.00	0.00
East Asian	0.000440	0.000435
Finnish	0.000281	0.000277
European (Non-Finnish)	0.000648	0.000624
Middle Eastern	0.000440	0.000435
South Asian	0.000502	0.000490
Other	0.000545	0.000489

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0823

Intolerance Scores

• loftool: 0.928
• rvis_EVS: 1.14
• rvis_percentile_EVS: 92.33

Haploinsufficiency Scores

• pHI: 0.109
• hipred: N
• hipred_score: 0.195
• ghis: 0.408

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.262

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wdr78

Gene ontology

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