DLK1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DLK1 (HGNC:2907) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
delta like non-canonical Notch ligand 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FA1, pG2, Pref-1, ZOG, Delta1
%HI
24.61(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.99(Read more about gnomAD pLI score)
LOEUF
0.46(Read more about gnomAD LOEUF score)
Cytoband
14q32.2
Genomic Coordinates
GRCh37/hg19: chr14:101193229-101204561 NCBI Ensembl UCSC
GRCh38/hg38: chr14:100726892-100738224 NCBI Ensembl UCSC
MANE Select Transcript
NM_003836.7 ENST00000341267.9 (Read more about MANE Select)
Function
May have a role in neuroendocrine differentiation. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-7008
ClinGen Curation ID:
CCID:006999
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Related Links:
Last Evaluated:
04/28/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
There are no reports in the literature of focal deletions or loss of function mutations involving DLK1. There have been a number of families and sporadic cases with upd(14)pat or upd(14)mat-like phenotypes and larger deletions that include DLK1 and other genes within this imprinted region (PMIDs: 18176563, 20179077, 18454453). The possibility of loss of paternal expression of DLK1 as the mechanism for the upd(14)mat phenotype has been discussed (PMID: 18698157) but has not been proven.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000014.8) (NC_000014.9)