TIGD6 |
- 40
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TIGD6 (HGNC:18332) HGNC Entrez Ensembl UCSC GeneReviews LOVD LSDB ClinVar
- HGNC Name
- tigger transposable element derived 6
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- DKFZp761E2110
- %HI
- 70.79(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
- 5q32
- Genomic Coordinates
-
GRCh37/hg19: chr5:149372681-149380217 NCBI Ensembl UCSC GRCh38/hg38: chr5:149993118-150000654 NCBI Ensembl UCSC - MANE Select Transcript
- NM_030953.4 ENST00000296736.4 (Read more about MANE Select)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-28420
ClinGen Curation ID:
CCID:008005
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Dosage Sensitivity Unlikely
(40)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
02/03/2021
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 likely LoF variants in this gene in gnomAD include p.Pro379TyrfsTer7 (1 homozygous individual), p.Glu345LysfsTer11 (51722 homozygous individuals), and p.Gly6AspfsTer7 (1085 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:
25807282
Sulem et al. (2015) identified 5927 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:
28406212
Saleheen et al. (2017) identified 2 adult individuals 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:
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 TIGD6 variant was found in the British Pakistani and ExAC populations.
-
PUBMED:
32461654
Karczewski et al. (2020) identifies 443,769 high confidence loss of function variants in the Genome Aggregation Database (gnomAD) population including these likely LoF variants (p.Pro379TyrfsTer7, p.Glu345LysfsTer11, and p.Gly6AspfsTer7). 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 2/3/2021 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 1.21 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)