SCAPER
Basic information
Region (hg38): 15:76347903-76905444
Previous symbols: [ "ZNF291" ]
Links
Phenotypes
GenCC
Source:
- retinitis pigmentosa (Supportive), mode of inheritance: AD
- Bardet-Biedl syndrome (Supportive), mode of inheritance: AR
- intellectual developmental disorder and retinitis pigmentosa; IDDRP (Moderate), mode of inheritance: AR
- intellectual developmental disorder and retinitis pigmentosa; IDDRP (Strong), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Intellectual developmental disorder and retinitis pigmentosa | AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Neurologic; Ophthalmologic | 28794130 |
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (51 variants)
- not provided (43 variants)
- Intellectual developmental disorder and retinitis pigmentosa; IDDRP (22 variants)
- SCAPER-related condition (2 variants)
- 6 conditions (1 variants)
- Attention deficit hyperactivity disorder;Intellectual disability, moderate;Rod-cone dystrophy (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SCAPER gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 11 | 19 | ||||
missense | 49 | 59 | ||||
nonsense | 1 | |||||
start loss | 1 | |||||
frameshift | 7 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 3 | |||||
splice region ? | 6 | 4 | 10 | |||
non coding ? | 12 | |||||
Total | 5 | 6 | 54 | 17 | 20 |
Highest pathogenic variant AF is 0.0000197
Variants in SCAPER
This is a list of pathogenic ClinVar variants found in the SCAPER region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
15-76348636-T-G | Inborn genetic diseases | Uncertain significance (Jul 28, 2022) | ||
15-76348652-A-G | Inborn genetic diseases | Uncertain significance (Jul 12, 2023) | ||
15-76348662-G-T | Inborn genetic diseases | Uncertain significance (Jan 30, 2024) | ||
15-76351235-A-G | Inborn genetic diseases | Uncertain significance (Dec 03, 2021) | ||
15-76351252-G-C | Inborn genetic diseases | Uncertain significance (Aug 15, 2023) | ||
15-76351277-C-G | Inborn genetic diseases | Uncertain significance (Jun 17, 2022) | ||
15-76353977-C-G | Inborn genetic diseases | Uncertain significance (Aug 21, 2023) | ||
15-76354014-T-G | Inborn genetic diseases | Uncertain significance (Nov 17, 2023) | ||
15-76354026-CA-C | Intellectual developmental disorder and retinitis pigmentosa; IDDRP | Uncertain significance (Apr 04, 2024) | ||
15-76354030-G-A | Likely benign (Dec 31, 2019) | |||
15-76354038-A-G | Inborn genetic diseases | Uncertain significance (Mar 12, 2024) | ||
15-76354114-G-C | SCAPER-related disorder | Benign (Dec 31, 2019) | ||
15-76354135-G-A | Likely benign (Aug 01, 2023) | |||
15-76376178-T-C | Inborn genetic diseases | Uncertain significance (Aug 02, 2022) | ||
15-76376193-C-G | Inborn genetic diseases | Uncertain significance (Apr 18, 2023) | ||
15-76376199-C-T | Inborn genetic diseases | Uncertain significance (Dec 21, 2021) | ||
15-76376206-T-C | Inborn genetic diseases | Conflicting classifications of pathogenicity (Mar 24, 2023) | ||
15-76376237-T-C | SCAPER-related disorder | Benign/Likely benign (Sep 01, 2022) | ||
15-76376308-TAG-T | Intellectual developmental disorder and retinitis pigmentosa; IDDRP | Likely pathogenic (Apr 30, 2019) | ||
15-76381375-T-C | Intellectual developmental disorder and retinitis pigmentosa; IDDRP • SCAPER-related disorder | Benign (Nov 07, 2021) | ||
15-76381427-C-T | Intellectual disability, moderate;Rod-cone dystrophy • Intellectual developmental disorder and retinitis pigmentosa; IDDRP | Pathogenic/Likely pathogenic (Nov 20, 2018) | ||
15-76381433-A-G | Inborn genetic diseases | Uncertain significance (Apr 13, 2022) | ||
15-76381444-G-T | SCAPER-related disorder | Benign (Dec 31, 2019) | ||
15-76381446-T-C | Inborn genetic diseases | Likely benign (Feb 07, 2023) | ||
15-76381451-T-C | Inborn genetic diseases | Uncertain significance (Sep 16, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SCAPER | protein_coding | protein_coding | ENST00000563290 | 31 | 557260 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00880 | 0.991 | 124598 | 0 | 43 | 124641 | 0.000173 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.72 | 522 | 729 | 0.716 | 0.0000391 | 9188 |
Missense in Polyphen | 160 | 299.43 | 0.53435 | 3822 | ||
Synonymous | -0.558 | 257 | 246 | 1.05 | 0.0000123 | 2585 |
Loss of Function | 6.03 | 20 | 77.1 | 0.259 | 0.00000428 | 933 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000341 | 0.000339 |
Ashkenazi Jewish | 0.0000995 | 0.0000994 |
East Asian | 0.000168 | 0.000167 |
Finnish | 0.0000465 | 0.0000464 |
European (Non-Finnish) | 0.000221 | 0.000204 |
Middle Eastern | 0.000168 | 0.000167 |
South Asian | 0.000241 | 0.000229 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: CCNA2/CDK2 regulatory protein that transiently maintains CCNA2 in the cytoplasm. {ECO:0000269|PubMed:17698606}.;
Recessive Scores
- pRec
- 0.105
Intolerance Scores
- loftool
- 0.984
- rvis_EVS
- 0.65
- rvis_percentile_EVS
- 84.18
Haploinsufficiency Scores
- pHI
- 0.160
- hipred
- Y
- hipred_score
- 0.527
- ghis
- 0.494
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.195
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Scaper
- Phenotype
Gene ontology
- Biological process
- Cellular component
- nucleus;endoplasmic reticulum;cytosol
- Molecular function
- nucleic acid binding;zinc ion binding