EFCAB13

  • 40
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
EFCAB13 (HGNC:26864) HGNC Entrez Ensembl UCSC GeneReviews LOVD LSDB ClinVar
HGNC Name
EF-hand calcium binding domain 13
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C17orf57
Alias symbols
FLJ40342
%HI
86.7(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.37(Read more about gnomAD LOEUF score)
Cytoband
17q21.32
Genomic Coordinates
GRCh37/hg19: chr17:45401321-45518678 NCBI Ensembl UCSC
GRCh38/hg38: chr17:47323955-47441312 NCBI Ensembl UCSC
MANE Select Transcript
NM_152347.5 ENST00000331493.7 (Read more about MANE Select)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-13595
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. Examples of homozygous LoF variants in this gene in gnomAD include c.806-1G>A (391 homozygous individuals) and c.2161+1G>T (1 homozygous individual).
  • PUBMED: 26940866
    Narasimhan et al. (2016) identified rare homozygous loss-of-function (rnLOF) variants in a British Pakistani population characterized as healthy, pregnant, or type 2 diabetic. The variants were compared with an Icelandic population and the ExAC database and a EFCAB13 variant was found in the British Pakistani and ExAC populations.
  • PUBMED: 25807282
    Sulem et al. (2015) identified 14053 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: 28406212
    Saleheen et al. (2017) identified two adult individuals in a Pakistani population with a homozygous LoF variant 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: 32461654
    Karczewski et al. (2020) identifies 443,769 high confidence loss of function variants in the Genome Aggregation Database (gnomAD) population including these variants (c.806-1G>A and c.2161+1G>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 2/1/2021 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 1.37 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_000017.10) (NC_000017.11)