DNAH14

dynein axonemal heavy chain 14, the group of Dyneins, axonemal inner arm I1/f complex subunits

Basic information

Region (hg38): 1:224896262-225399292

Previous symbols: [ "C1orf67" ]

Links

ENSG00000185842 ∙ NCBI:127602 ∙ OMIM:603341 ∙ HGNC:2945 ∙ Uniprot:Q0VDD8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• neurodevelopmental disorder (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DNAH14 gene.

• Neurodevelopmental disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAH14 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			1	4	5	10
missense			418	30	19	467
nonsense	1	1	12	1		15
start loss						0
frameshift			21	2	1	24
inframe indel			1			1
splice donor/acceptor (+/-2bp)			7			7
splice region			6	1	1	8
non coding			1		4	5
Total	1	1	461	37	29

Highest pathogenic variant AF is 0.0000132

Variants in DNAH14

This is a list of pathogenic ClinVar variants found in the DNAH14 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-224952757-G-T		DNAH14-related disorder	Likely benign (Aug 04, 2023)
1-224952769-A-G		not specified	Uncertain significance (Aug 14, 2024)
1-224954983-A-T		not specified	Uncertain significance (Jan 10, 2022)
1-224955054-CAGTT-C			Uncertain significance (Jun 22, 2021)
1-224955060-G-C		not specified	Uncertain significance (Jun 28, 2022)
1-224955078-T-C		not specified	Uncertain significance (Jan 26, 2022)
1-224955084-CAG-C			Uncertain significance (Dec 21, 2023)
1-224960168-G-A		not specified	Likely benign (Dec 03, 2024)
1-224960230-A-G		DNAH14-related disorder	Uncertain significance (Nov 13, 2023)
1-224960271-G-T		not specified	Uncertain significance (May 10, 2024)
1-224960276-C-T		not specified	Uncertain significance (Nov 20, 2023)
1-224960291-A-G		not specified	Uncertain significance (Sep 02, 2024)
1-224964476-C-G			Uncertain significance (Nov 13, 2023)
1-224964478-G-A			Uncertain significance (Apr 10, 2023)
1-224964520-C-T			Uncertain significance (Feb 16, 2023)
1-224964521-G-A		not specified	Uncertain significance (Aug 21, 2023)
1-224964551-C-T			Likely benign (Mar 01, 2023)
1-224964553-C-G		not specified	Uncertain significance (Nov 10, 2024)
1-224964571-G-A		not specified	Uncertain significance (Feb 22, 2023)
1-224964589-A-G		not specified	Likely benign (Jan 06, 2023)
1-224967412-A-T			Benign (Nov 10, 2020)
1-224967434-C-T		not specified	Uncertain significance (Aug 20, 2024)
1-224967542-T-A			Uncertain significance (Feb 22, 2023)
1-224967581-A-G		not specified	Uncertain significance (Dec 22, 2023)
1-224967584-G-A		DNAH14-related disorder	Likely benign (May 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAH14	protein_coding	protein_coding	ENST00000400952	10	503033

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.69e-16	0.00467	123216	20	1347	124583	0.00550

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.02	159	200	0.796	0.00000953	2974
Missense in Polyphen		31	46.283	0.66979		767
Synonymous	1.35	54	68.1	0.792	0.00000321	786
Loss of Function	-0.308	23	21.5	1.07	0.00000111	327

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0297	0.0297
Ashkenazi Jewish	0.00200	0.00189
East Asian	0.0220	0.0208
Finnish	0.00	0.00
European (Non-Finnish)	0.000690	0.000672
Middle Eastern	0.0220	0.0208
South Asian	0.000150	0.000131
Other	0.00316	0.00298

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity). {ECO:0000250}.
• Pathway: Huntington,s disease - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.100

Intolerance Scores

• loftool: 0.997
• rvis_EVS: 1.39
• rvis_percentile_EVS: 94.67

Haploinsufficiency Scores

• pHI: 0.322
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.143

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Dnah14

Gene ontology

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