CEP78
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CEP78 (HGNC:25740) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
centrosomal protein 78
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C9orf81
Alias symbols
FLJ12643
%HI
49.15(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.53(Read more about gnomAD LOEUF score)
Cytoband
9q21.2
Genomic Coordinates
GRCh37/hg19: chr9:80850991-80894606 NCBI Ensembl UCSC
GRCh38/hg38: chr9:78236075-78279690 NCBI Ensembl UCSC
MANE Select Transcript
NM_001330691.3 ENST00000643273.2 (Read more about MANE Select)
Function
May be required for efficient PLK4 centrosomal localization and PLK4-induced overduplication of centrioles (PubMed:27246242). May play a role in cilium biogenesis (PubMed:27588451). {ECO:0000269|PubMed:27246242, ECO:0000269|PubMed:27588451}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-27354
ClinGen Curation ID:
CCID:006840
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:
10/23/2017

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • cone-rod dystrophy and hearing loss 1 Monarch
HI Evidence Comments:
PMID 27588452: Namburi P, (2016): Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss PMID 27627988: Fu Q (2017): WES and WGS testing of patients from two independent families with juvenile/adult-onset cone-rod dystrophy and sensorineural hearing loss identified two homozygous rare variants that affect splicing of CEP78. PMID 27588451: Nikopoulos K (2016): Exome analysis of a cohort of individuals with cone-rod degeneration (CRD) identified biallelic mutations in CEP78 in three patients from two families: one from Greece and another from Sweden. The Greek patient was homozygous for the c.499+1G>T (IVS3+1G>T) mutation. The Swedish patients were compound heterozygotes for c.499+5G>A (IVS3+5G>A) and c.633delC (p.Trp212Glyfs(∗)18). In addition to CRD, these individuals had hearing deficits.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)