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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)