EXO5 |
- 40
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- EXO5 (HGNC:26115) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- exonuclease 5
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C1orf176, DEM1
- Alias symbols
- FLJ21144
- %HI
- 64.2(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.05(Read more about gnomAD LOEUF score)
- Cytoband
- 1p34.2
- Genomic Coordinates
-
GRCh37/hg19: chr1:40974439-40981710 NCBI Ensembl UCSC GRCh38/hg38: chr1:40508767-40516038 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001346953.2 ENST00000415550.6 (Read more about MANE Select)
- Function
- Single-stranded DNA (ssDNA) bidirectional exonuclease involved in DNA repair. Probably involved in DNA repair following ultraviolet (UV) irradiation and interstrand cross-links (ICLs) damage. Has both 5'-3' and 3'-5' exonuclease activities with a strong preference for 5'-ends. Acts as a sliding exonuclease that loads at ssDNA ends and then slides along the ssDNA prior to cutting; however the sliding and the 3'-5' exonuclease activities are abolished upon binding to the replication protein A (RPA... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-19916
ClinGen Curation ID:
CCID:007094
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Dosage Sensitivity Unlikely
(40)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
02/02/2021
Haploinsufficiency (HI) Score Details
HI Score:
40
HI Evidence Strength:
Dosage Sensitivity Unlikely
(Disclaimer)
HI Evidence:
-
PUBMED:
32487729
Rausell et al. (2020) suggested that this gene is dosage sensitivity unlikely because it had at least one homozygous LoF variant present in >1% of the gnomAD population. An example of a homozygous LoF variant in this gene in gnomAD includes p.Val265GlufsTer5 (218 homozygous individuals).
-
PUBMED:
25807282
Sulem et al. (2015) identified 34 individuals in an Icelandic population with a homozygous LoF variant in this gene. This population was participating in a variety of disease projects and the researchers pulled this population to investigate how often homozygous LoF variants were found in this population.
-
PUBMED:
32461654
Karczewski et al. (2020) identifies 443,769 high confidence loss of function variants in the Genome Aggregation Database (gnomAD) population including this variant (p.Val265GlufsTer5). Several methods were used to identify these genes including manual curation and utilizing LOEUF scores.
HI Evidence Comments:
This gene was classified as dosage sensitivity unlikely on 2/1/2021 based on review of population data as described in the PMIDs above. These genes all have at least one curated homozygous loss of function variant in 1% or greater of the gnomAD population dataset and some have also been observed in additional population datasets. As of January 2021, there are no disease associations found in OMIM, and no reports suggesting a Mendelian disease association in the literature.
The gnomAD pLI score is 0 and the LOEUF score is 1.43 predicting that this gene is tolerant of LoF variation.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)