PLAGL1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PLAGL1 (HGNC:9046) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
PLAG1 like zinc finger 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
ZAC, LOT1
%HI
60.44(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.58(Read more about gnomAD pLI score)
LOEUF
1.02(Read more about gnomAD LOEUF score)
Cytoband
6q24.2
Genomic Coordinates
GRCh37/hg19: chr6:144261437-144385736 NCBI Ensembl UCSC
GRCh38/hg38: chr6:143940300-144064599 NCBI Ensembl UCSC
MANE Select Transcript
NM_001317162.2 ENST00000674357.1 (Read more about MANE Select)
Function
Acts as a transcriptional activator (PubMed:9722527). Involved in the transcriptional regulation of type 1 receptor for pituitary adenylate cyclase-activating polypeptide. {ECO:0000269|PubMed:18299245, ECO:0000269|PubMed:9722527}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-11407
ClinGen Curation ID:
CCID:007679
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:
08/27/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
No evidence for haploinsufficiency.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
Docherty et al (PMID 20668833) reduced the minimal transient neonatal diabetes mellitus (TNDM) critical region to 160-173 kb, containing only the genes PLAGL1 and HYMAI. However, since duplications of only PLAGL1 have not been reported, this gene was scored as 0, but the region was scored as 3 for triplosensivity.

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)