• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DNAAF1 (HGNC:30539) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
dynein axonemal assembly factor 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
LRRC50
Alias symbols
FLJ25330, ODA7, CILD13, swt, DAU1
%HI
98.51(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1(Read more about gnomAD LOEUF score)
Cytoband
16q24.1
Genomic Coordinates
GRCh37/hg19: chr16:84178913-84211526 NCBI Ensembl UCSC
GRCh38/hg38: chr16:84145308-84177920 NCBI Ensembl UCSC
MANE Select Transcript
NM_178452.6 ENST00000378553.10 (Read more about MANE Select)
Function
Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli. {ECO:0000269|PubMed:18385425, ECO:0000269|PubMed:19944400, ECO:0000269|PubMed:19944405}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-29502
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)