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. These statistics are base on transcript: . 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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1 clinvar	4 clinvar	5 clinvar	10
missense			418 clinvar	30 clinvar	19 clinvar	467
nonsense	1 clinvar	1 clinvar	12 clinvar	1 clinvar		15
start loss						0
frameshift			21 clinvar	2 clinvar	1 clinvar	24
splice donor/acceptor (+/-2bp)			7 clinvar			7
Total	1	1	459	37	25

Highest pathogenic variant AF is 0.0000131515

Loading clinvar variants...

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
ghis

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
Phenotype

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