GLIS3 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- GLIS3 (HGNC:28510) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- GLIS family zinc finger 3
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ZNF515
- Alias symbols
- MGC33662
- %HI
- 2.6(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.74(Read more about gnomAD LOEUF score)
- Cytoband
- 9p24.2
- Genomic Coordinates
-
GRCh37/hg19: chr9:3824127-4300068 NCBI Ensembl UCSC GRCh38/hg38: chr9:3824127-4490465 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001042413.2 ENST00000381971.8 (Read more about MANE Select)
- Function
- Acts both as a repressor and an activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity). {ECO:0000250}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-27452
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- neonatal diabetes mellitus with congenital hypothyroidism Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000009.11)
(NC_000009.12)