TONSL Chromosome 8
Tonsoku like, DNA repair protein
Upload your DNA to see your personal genotypes for variants in TONSL.
What This Gene Does
The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Ankyrin repeat domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000160949
Associated Conditions (5)
Inborn genetic diseases
TONSL-related disorder
Sponastrime dysplasia
Spondylometaphyseal dysplasia
Skeletal dysplaisia with extra-skeletal manifestations
Key Variants
RS138251107
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141623142
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145201012
Conflicting classifications of pathogenicity
TONSL-related disorder, Inborn genetic diseases, TONSL-related disorder
Health Risk
RS145900712
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146192032
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148167168
Conflicting classifications of pathogenicity
TONSL-related disorder, Inborn genetic diseases, TONSL-related disorder
Health Risk
RS149645318
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS151056734
Conflicting classifications of pathogenicity
Inborn genetic diseases, Sponastrime dysplasia, TONSL-related disorder
Health Risk
RS1554878076
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS189270359
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199658960
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200081517
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (90)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138251107 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141623142 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145201012 | Health Risk | Conflicting classifications of pathogenicity | TONSL-related disorder, Inborn genetic diseases, TONSL-related disorder |
| RS145900712 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146192032 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148167168 | Health Risk | Conflicting classifications of pathogenicity | TONSL-related disorder, Inborn genetic diseases, TONSL-related disorder |
| RS149645318 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS151056734 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Sponastrime dysplasia, TONSL-related disorder |
| RS1554878076 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS189270359 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199658960 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200081517 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200996902 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS368763252 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370820880 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TONSL-related disorder, Inborn genetic diseases |
| RS371647926 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372270428 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372316501 | Health Risk | Conflicting classifications of pathogenicity | TONSL-related disorder, Inborn genetic diseases, TONSL-related disorder |
| RS563710728 | Health Risk | Conflicting classifications of pathogenicity | Sponastrime dysplasia, Inborn genetic diseases, Sponastrime dysplasia |
| RS565607454 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS566537432 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS567826472 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS759158029 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762451292 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772361735 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774827204 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS775551492 | Health Risk | Conflicting classifications of pathogenicity | Sponastrime dysplasia, Sponastrime dysplasia |
| RS776417303 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS777654833 | Health Risk | Conflicting classifications of pathogenicity | Sponastrime dysplasia, Spondylometaphyseal dysplasia, Sponastrime dysplasia |
| RS779585131 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782299928 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782563535 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782628825 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1022115135 | Health Risk | Likely pathogenic | — |
| RS1026265047 | Health Risk | Likely pathogenic | Sponastrime dysplasia, Sponastrime dysplasia |
| RS1249246199 | Health Risk | Likely pathogenic | TONSL-related disorder, TONSL-related disorder |
| RS1341244760 | Health Risk | Likely pathogenic | Sponastrime dysplasia, Sponastrime dysplasia |
| RS139159346 | Health Risk | Likely pathogenic | — |
| RS1414412355 | Health Risk | Likely pathogenic | — |
| RS1823342505 | Health Risk | Likely pathogenic | Sponastrime dysplasia, Sponastrime dysplasia |
| RS1823455124 | Health Risk | Likely pathogenic | Skeletal dysplaisia with extra-skeletal manifestations, Skeletal dysplaisia with extra-skeletal manifestations |
| RS1823748085 | Health Risk | Likely pathogenic | — |
| RS1823827684 | Health Risk | Likely pathogenic | — |
| RS1823830929 | Health Risk | Likely pathogenic | — |
| RS2130831990 | Health Risk | Likely pathogenic | Sponastrime dysplasia, Sponastrime dysplasia |
| RS2130847575 | Health Risk | Likely pathogenic | Sponastrime dysplasia, Sponastrime dysplasia |
| RS2537483665 | Health Risk | Likely pathogenic | Sponastrime dysplasia, Sponastrime dysplasia |
| RS2537499869 | Health Risk | Likely pathogenic | Sponastrime dysplasia, Sponastrime dysplasia |
| RS2537506917 | Health Risk | Likely pathogenic | TONSL-related disorder, TONSL-related disorder |
| RS2537511560 | Health Risk | Likely pathogenic | — |