SCAPER Chromosome 15
S-phase cyclin A associated protein in the ER
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What This Gene Does
Predicted to enable nucleic acid binding activity and zinc ion binding activity. Acts upstream of or within retina development in camera-type eye. Located in cytosol and nuclear speck. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Zinc fingers C2H2-type|Zinc fingers matrin-type"
Locus Type
gene with protein product
Location
15q24.3
Ensembl
ENSG00000140386
Associated Conditions (18)
Inborn genetic diseases
SCAPER-related disorder
Intellectual developmental disorder and retinitis pigmentosa
IDDRP
Retinal dystrophy
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Lung cancer
Cervical cancer
Familial cancer of breast
Gastric cancer
Optic atrophy
Moderate intellectual disability
Rod-cone dystrophy
Attention deficit hyperactivity disorder
Retinitis pigmentosa
Syndromic retinitis pigmentosa
6 conditions
Key Variants
RS137972092
Conflicting classifications of pathogenicity
Inborn genetic diseases, SCAPER-related disorder, Intellectual developmental disorder and retinitis pigmentosa
Health Risk
RS139187840
Conflicting classifications of pathogenicity
SCAPER-related disorder, Retinal dystrophy, Ovarian serous cystadenocarcinoma
Health Risk
RS199940124
Conflicting classifications of pathogenicity
Inborn genetic diseases, SCAPER-related disorder, Inborn genetic diseases
Health Risk
RS200793584
Conflicting classifications of pathogenicity
SCAPER-related disorder, Optic atrophy, SCAPER-related disorder
Health Risk
RS35382573
Conflicting classifications of pathogenicity
Retinal dystrophy, SCAPER-related disorder, Retinal dystrophy
Health Risk
RS1192028272
Likely pathogenic
Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa
Health Risk
RS1239045609
Likely pathogenic
SCAPER-related disorder, SCAPER-related disorder
Health Risk
RS1303625185
Likely pathogenic
Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa
Health Risk
RS1484749107
Likely pathogenic
Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa
Health Risk
RS1596596355
Likely pathogenic
Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa
Health Risk
RS1597752941
Likely pathogenic
Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa
Health Risk
RS1598279469
Likely pathogenic
Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa
Health Risk
All Variants (29)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137972092 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, SCAPER-related disorder, Intellectual developmental disorder and retinitis pigmentosa |
| RS139187840 | Health Risk | Conflicting classifications of pathogenicity | SCAPER-related disorder, Retinal dystrophy, Ovarian serous cystadenocarcinoma |
| RS199940124 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, SCAPER-related disorder, Inborn genetic diseases |
| RS200793584 | Health Risk | Conflicting classifications of pathogenicity | SCAPER-related disorder, Optic atrophy, SCAPER-related disorder |
| RS35382573 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, SCAPER-related disorder, Retinal dystrophy |
| RS1192028272 | Health Risk | Likely pathogenic | Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa |
| RS1239045609 | Health Risk | Likely pathogenic | SCAPER-related disorder, SCAPER-related disorder |
| RS1303625185 | Health Risk | Likely pathogenic | Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa |
| RS1484749107 | Health Risk | Likely pathogenic | Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa |
| RS1596596355 | Health Risk | Likely pathogenic | Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa |
| RS1597752941 | Health Risk | Likely pathogenic | Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa |
| RS1598279469 | Health Risk | Likely pathogenic | Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa |
| RS1598598205 | Health Risk | Likely pathogenic | Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa |
| RS1598632432 | Health Risk | Likely pathogenic | Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa |
| RS2050148457 | Health Risk | Likely pathogenic | Intellectual developmental disorder and retinitis pigmentosa, IDDRP, SCAPER-related disorder |
| RS2151864247 | Health Risk | Likely pathogenic | Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa |
| RS2548144366 | Health Risk | Likely pathogenic | SCAPER-related disorder, SCAPER-related disorder |
| RS757834403 | Health Risk | Likely pathogenic | Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa |
| RS761149240 | Health Risk | Likely pathogenic | Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa |
| RS777893794 | Health Risk | Likely pathogenic | Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa |
| RS1239725461 | Health Risk | Pathogenic | Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa |
| RS1462082548 | Health Risk | Pathogenic | Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa |
| RS1555447569 | Health Risk | Pathogenic | Moderate intellectual disability, Rod-cone dystrophy, Attention deficit hyperactivity disorder |
| RS1555558169 | Health Risk | Pathogenic | Retinitis pigmentosa, Intellectual developmental disorder and retinitis pigmentosa, IDDRP |
| RS1567499068 | Health Risk | Pathogenic | 6 conditions, 6 conditions |
| RS2545113885 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS978336151 | Health Risk | Pathogenic | Intellectual developmental disorder and retinitis pigmentosa, IDDRP, Intellectual developmental disorder and retinitis pigmentosa |
| RS1305542291 | Health Risk | Pathogenic/Likely pathogenic | Moderate intellectual disability, Rod-cone dystrophy, Intellectual developmental disorder and retinitis pigmentosa |
| RS1395475624 | Health Risk | Pathogenic/Likely pathogenic | Moderate intellectual disability, Rod-cone dystrophy, Intellectual developmental disorder and retinitis pigmentosa |