SEC14L4

  • 40
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SEC14L4 (HGNC:20627) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
SEC14 like lipid binding 4
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
TAP3, dJ130H16.5
%HI
74.07(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.13(Read more about gnomAD LOEUF score)
Cytoband
22q12.2
Genomic Coordinates
GRCh37/hg19: chr22:30884889-30901682 NCBI Ensembl UCSC
GRCh38/hg38: chr22:30488902-30505695 NCBI Ensembl UCSC
MANE Select Transcript
NM_174977.4 ENST00000255858.12 (Read more about MANE Select)
Function
Probable hydrophobic ligand-binding protein; may play a role in the transport of hydrophobic ligands like tocopherol, squalene and phospholipids. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36586
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.Glu134Ter (120 homozygous individuals).
  • 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: 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.Glu134Ter). 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 1.13 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_000022.10) (NC_000022.11)