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)