• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NTHL1 (HGNC:8028) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
nth like DNA glycosylase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
NTH1, OCTS3
%HI
66.04(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.6(Read more about gnomAD LOEUF score)
Cytoband
16p13.3
Genomic Coordinates
GRCh37/hg19: chr16:2089821-2097835 NCBI Ensembl UCSC
GRCh38/hg38: chr16:2039820-2047834 NCBI Ensembl UCSC
MANE Select Transcript
NM_002528.7 ENST00000651570.2 (Read more about MANE Select)
Function
Bifunctional DNA N-glycosylase with associated apurinic/apyrimidinic (AP) lyase function that catalyzes the first step in base excision repair (BER), the primary repair pathway for the repair of oxidative DNA damage (PubMed:9927729, PubMed:29610152). The DNA N-glycosylase activity releases the damaged DNA base from DNA by cleaving the N-glycosidic bond, leaving an AP site. The AP-lyase activity cleaves the phosphodiester bond 3' to the AP site by a beta- elimination. Primarily recognizes and rep... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-18383
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
07/06/2020

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • FAMILIAL ADENOMATOUS POLYPOSIS 3; FAP3 Monarch
HI Evidence Comments:
Bialleic varants are associated with an adenomatous polyposis phenotype and progression to CRC as well as an increased risk for endometrial cancer (PMIDs: 25938944, 26559593, 3024817, 27720914, 27329137) Nik-Sainal S et al., (2016) (PMID 27135926): WGS of 560 breast cancers found a breast cancer patient who had a mutational pattern of unexplained mutational process turned out to carry a germline p.Gln287Ter mutation that was followed by hemizygous loss of the wild-type allele in the tumour. Heterozygotes could be at a (minor) increased risk of developing cancer by a loss-of-heterozygosity mechanism. However, more studies are needed to determine if the heterozygous LoF mutations confer increased risk of developing cancer(s).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No articles found yet

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)