LIG4 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- LIG4 (HGNC:6601) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- DNA ligase 4
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 23.18(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.04(Read more about gnomAD LOEUF score)
- Cytoband
- 13q33.3
- Genomic Coordinates
-
GRCh37/hg19: chr13:108859790-108870697 NCBI Ensembl UCSC GRCh38/hg38: chr13:108207442-108218349 NCBI Ensembl UCSC - MANE Select Transcript
- NM_206937.2 ENST00000442234.6 (Read more about MANE Select)
- Function
- DNA ligase involved in DNA non-homologous end joining (NHEJ); required for double-strand break (DSB) repair and V(D)J recombination (PubMed:8798671, PubMed:9242410, PubMed:9809069, PubMed:12517771, PubMed:17290226, PubMed:23523427, PubMed:29980672, PubMed:33586762). Catalyzes the NHEJ ligation step of the broken DNA during DSB repair by resealing the DNA breaks after the gap filling is completed (PubMed:9242410, PubMed:9809069, PubMed:12517771, PubMed:17290226). Joins single-strand breaks in a d... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-6709
ClinGen Curation ID:
CCID:007402
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:
- DNA ligase IV deficiency Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000013.10)
(NC_000013.11)