CFAP53
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CFAP53 (HGNC:26530) HGNC Entrez Ensembl OMIM Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
cilia and flagella associated protein 53
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CCDC11
Alias symbols
FLJ32743
%HI
72.99(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.28(Read more about gnomAD LOEUF score)
Cytoband
18q21.1
Genomic Coordinates
GRCh37/hg19: chr18:47753563-47792865 NCBI Ensembl UCSC
GRCh38/hg38: chr18:50227193-50266495 NCBI Ensembl UCSC
MANE Select Transcript
NM_145020.5 ENST00000398545.5 (Read more about MANE Select)
Function
Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). May play a role in the beating of primary cilia and thereby be involved in the establishment of organ laterality during embryogenesis (PubMed:26531781). {ECO:0000250|UniProtKB:F1N7G5, ECO:0000269|PubMed:26531781, ECO:0000269|PubMed:36191189}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-7194
ClinGen Curation ID:
CCID:006844
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • heterotaxy, visceral, 6, autosomal Monarch

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000018.9) (NC_000018.10)