JAG1
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
JAG1 (HGNC:6188) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
jagged canonical Notch ligand 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
AGS, JAGL1
Alias symbols
AHD, AWS, HJ1, CD339
%HI
1.06(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.21(Read more about gnomAD LOEUF score)
Cytoband
20p12.2
Genomic Coordinates
GRCh37/hg19: chr20:10618332-10654647 NCBI Ensembl UCSC
GRCh38/hg38: chr20:10637684-10673999 NCBI Ensembl UCSC
MANE Select Transcript
NM_000214.3 ENST00000254958.10 (Read more about MANE Select)
Function
Ligand for multiple Notch receptors and involved in the mediation of Notch signaling (PubMed:18660822, PubMed:20437614). May be involved in cell-fate decisions during hematopoiesis (PubMed:9462510). Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro). {ECO:0000250, ECO:0000269|PubMed:18660822, ECO:0000269|PubMed:20437614, ECO:0000269|PubMed:94625... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-13453
ClinGen Curation ID:
CCID:007341
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
10/19/2020

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • Alagille syndrome due to a JAG1 point mutation Monarch
HI Evidence:
  • PUBMED: 9585603
    Krantz et al. (1998) tested 54 Alagille syndrome (AGS) patients and their families for for the frequency of variants in JAG1. They found mutations/deletions in 75% of the patients, including 3 whole-gene deletions, 19 small deletions and insertions, and 9 nonsense mutations. Some of the identified variants were de novo and some were inherited from parents with clinical features consistent with JAG1 or an AGS microform (meaning they had some physical features consisted with AGS but not enough to establish clinical diagnosis).
  • PUBMED: 12497640
    Ropke et al. (2003) tested a series of probands with Alagille syndrome for mutations in JAG1. They identified 36 new variants in JAG1, including 23 truncating variants (these included deletions, insertions, complex and nonsense variants). Some of the identified variants were de novo and some were determined to be inherited.
  • PUBMED: 16575836
    Warthen et al. (2006) tested 247 probands with diagnosis of Alagille syndrome and found JAG1 mutations in 94% of patients, including over 40 different truncating variants.
HI Evidence Comments:
Haploinsufficiency of JAG1 is associated with Alagille syndrome. Alagille syndrome is an autosomal dominant disorder variably affecting multiple organ systems including the liver, heart, vertebra, kidneys, vasculature, eye and face. Genotype-phenotype correlation studies suggest deletions including JAG1 and smaller than approximately 4-5 Mb do not result in additional clinical findings as compared to patients with isolated JAG1 disruption.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No evidence supporting or refuting triplosensitivity of this gene.

Genomic View

Select assembly: (NC_000020.10) (NC_000020.11)