SLC6A18
  • 40
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SLC6A18 (HGNC:26441) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
solute carrier family 6 member 18
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FLJ31236, Xtrp2
%HI
69.67(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.14(Read more about gnomAD LOEUF score)
Cytoband
5p15.33
Genomic Coordinates
GRCh37/hg19: chr5:1225496-1246304 NCBI Ensembl UCSC
GRCh38/hg38: chr5:1225381-1246189 NCBI Ensembl UCSC
MANE Select Transcript
NM_182632.3 ENST00000324642.4 (Read more about MANE Select)
Function
Does not show neutral amino acid transporter activity. {ECO:0000269|PubMed:26240152}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-22826
ClinGen Curation ID:
CCID:007888
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Dosage Sensitivity Unlikely (40)
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Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
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. Examples of homozygous LoF or likely LoF variants in this gene in gnomAD include p.Lys20SerfsTer10 (1 homozygous individual), p.Tyr319Ter (18840 homozygous individuals), and c.975-2A>T (1 homozygous individual).
  • PUBMED: 22344438
    MacArthur et al. (2012) suggested that this gene is dosage sensitivity unlikely because it had at least one homozygous LoF variant present at >5% of the 1000 Genomes Project database.
  • PUBMED: 28406212
    Saleheen et al. (2017) identified 1 adult individual in a Pakistani population with a homozygous LoF variants in this gene. The individuals were originally recruited for a study evaluating risk of myocardial infarction. Individuals within that study found to have homozygous predicted LOF variants were phenotyped for “more than 200 biochemical and disease traits”.
  • PUBMED: 25807282
    Sulem et al. (2015) identified 18557 individuals in an Icelandic population with a homozygous LoF variants 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 these LoF and likely LoF variants (p.Lys20SerfsTer10, p.Tyr319Ter, and c.975-2A>T). 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 2/2/2021 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 1.47 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_000005.9) (NC_000005.10)