TOPORS Chromosome 9
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
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What This Gene Does
This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]
Gene Info
Gene Group
Ring finger proteins
Locus Type
gene with protein product
Location
9p21.1
Ensembl
ENSG00000197579
Associated Conditions (5)
Retinitis pigmentosa
Inborn genetic diseases
Retinal dystrophy
TOPORS-related disorder
Retinitis pigmentosa 31
Key Variants
RS1257671376
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS1294058368
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1369702932
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS139859703
Conflicting classifications of pathogenicity
TOPORS-related disorder, Inborn genetic diseases, TOPORS-related disorder
Health Risk
RS143249653
Conflicting classifications of pathogenicity
Health Risk
RS143560726
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS147071021
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS147302494
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS147497536
Conflicting classifications of pathogenicity
Retinitis pigmentosa 31, Inborn genetic diseases, Retinitis pigmentosa 31
Health Risk
RS148620735
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Inborn genetic diseases, Retinitis pigmentosa
Health Risk
RS150650712
Conflicting classifications of pathogenicity
TOPORS-related disorder, TOPORS-related disorder
Health Risk
RS191872498
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
All Variants (52)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1257671376 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1294058368 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1369702932 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS139859703 | Health Risk | Conflicting classifications of pathogenicity | TOPORS-related disorder, Inborn genetic diseases, TOPORS-related disorder |
| RS143249653 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143560726 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS147071021 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS147302494 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS147497536 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 31, Inborn genetic diseases, Retinitis pigmentosa 31 |
| RS148620735 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Inborn genetic diseases, Retinitis pigmentosa |
| RS150650712 | Health Risk | Conflicting classifications of pathogenicity | TOPORS-related disorder, TOPORS-related disorder |
| RS191872498 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS2118968698 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS368712338 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS372292364 | Health Risk | Conflicting classifications of pathogenicity | TOPORS-related disorder, TOPORS-related disorder |
| RS376719585 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS377039609 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Retinal dystrophy, Inborn genetic diseases |
| RS41272913 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Retinal dystrophy, Inborn genetic diseases |
| RS539334628 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Inborn genetic diseases, Retinal dystrophy |
| RS727504178 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS745504273 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS746320974 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS750237658 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinitis pigmentosa 31, Retinal dystrophy |
| RS752030562 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS753306883 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS757674137 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS758096681 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Inborn genetic diseases, Retinitis pigmentosa |
| RS760719392 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762871906 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS763061457 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS767276423 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772045314 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Retinal dystrophy, Inborn genetic diseases |
| RS776001696 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 31, Retinitis pigmentosa 31 |
| RS1246790145 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1587620892 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS1821068883 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1821069325 | Health Risk | Likely pathogenic | — |
| RS1821070611 | Health Risk | Likely pathogenic | — |
| RS2118966321 | Health Risk | Likely pathogenic | — |
| RS2489446259 | Health Risk | Likely pathogenic | — |
| RS2551499709 | Health Risk | Likely pathogenic | — |
| RS762975517 | Health Risk | Likely pathogenic | — |
| RS768332878 | Health Risk | Likely pathogenic | — |
| RS1554671407 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1587620953 | Health Risk | Pathogenic | Retinitis pigmentosa 31, TOPORS-related disorder, Retinitis pigmentosa 31 |
| RS2118966836 | Health Risk | Pathogenic | — |
| RS2489446452 | Health Risk | Pathogenic | Retinitis pigmentosa 31, Retinitis pigmentosa 31 |
| RS527236116 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa 31 |
| RS927241903 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1563983151 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 31, Retinal dystrophy, Retinitis pigmentosa 31 |