• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CDIN1 (HGNC:26929) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
CDAN1 interacting nuclease 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C15orf41
Alias symbols
HH114, MGC11326, FLJ22851
%HI
2.88(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.06(Read more about gnomAD LOEUF score)
Cytoband
15q14
Genomic Coordinates
GRCh37/hg19: chr15:36871827-37102445 NCBI Ensembl UCSC
GRCh38/hg38: chr15:36579626-36810244 NCBI Ensembl UCSC
MANE Select Transcript
NM_001321759.2 ENST00000566621.6 (Read more about MANE Select)
Function
Plays a role in erythroid cell differentiation. {ECO:0000269|PubMed:31191338}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-25885
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:
  • congenital dyserythropoietic anemia type type 1B Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

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