CDAN1
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CDAN1 (HGNC:1713) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
codanin 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CDA-I, CDAI
%HI
40.71(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.91(Read more about gnomAD LOEUF score)
Cytoband
15q15.2
Genomic Coordinates
GRCh37/hg19: chr15:43015742-43029326 NCBI Ensembl UCSC
GRCh38/hg38: chr15:42723544-42737128 NCBI Ensembl UCSC
MANE Select Transcript
NM_138477.4 ENST00000356231.4 (Read more about MANE Select)
Function
May act as a negative regulator of ASF1 in chromatin assembly. {ECO:0000269|PubMed:22407294}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-661
ClinGen Curation ID:
CCID:006815
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:
  • anemia, congenital dyserythropoietic, type 1a Monarch

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)