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)
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:
- 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)