NTHL1 |
- 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)