CCDC40 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CCDC40 (HGNC:26090) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- coiled-coil domain containing 40
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172, CFAP172
- %HI
- 95.52(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.96(Read more about gnomAD LOEUF score)
- Cytoband
- 17q25.3
- Genomic Coordinates
-
GRCh37/hg19: chr17:78010441-78074412 NCBI Ensembl UCSC GRCh38/hg38: chr17:80036642-80100613 NCBI Ensembl UCSC - MANE Select Transcript
- NM_017950.4 ENST00000397545.9 (Read more about MANE Select)
- Function
- Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131974). Probably acts together with CCDC39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly. Required for axonemal recruitment... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-28279
ClinGen Curation ID:
CCID:006801
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- primary ciliary dyskinesia 15 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)