We are committed to working with institutions and researchers that share reagents, biospecimens, cells lines, animal models, and data.
Sex | CSNK2A1 Mutation | Family ID |
---|---|---|
Female | NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) chr20:492282 | F215-P001 |
Female | NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) chr20:492282 | F215-P003 (Affected half-sister of F215-P001) |
Female | NM_177559.3(CSNK2A1):c.139C>G (p.Arg47Gly) chr20:505192 | F565-P001 |
Female | NM_177559.3(CSNK2A1):c.468T>A (p.Asp156Glu) chr20:495761 | N017-P001 |
GENE | C. | P. | SOURCE | Co-Isogenic Controls |
---|---|---|---|---|
CSNK2A1 | 140G>A | Arg47Gln | PBMCS | No |
CSNK2A1 | 593A>G | Lys198Arg | PBMCS | No |
CSNK2A1 | CNV: 378136-547319 | CNV deletion | PBMCS | No |
CSNK2A1 | 468T>A | Asp156Glu | PBMCS | In Progress |
CSNK2A1 | 593A>G | Lys198Arg | PBMCS | In Progress |
CSNK2A1 | 149A>C | Arg312Trp | PBMCS | In Progress |
CSNK2A1 | 149A>C | Tyr50Ser | PBMCS | No |
CSNK2A1 | 139C>G | Arg47Gly | PBMCS | In Progress |
CSNK2A1 | 140G>A | Arg47Gln | PBMCS | No |
1. Csnk2a1 K198R
2. Csnk2a1 R312W
3. Csnk2a1 R47G
4. Csnk2a1 Constitutive Knockout
5. Csnk2a1 Conditional Mice
Measures in individuals with genetic variants | Baseline | Annual |
---|---|---|
MEDICAL RECORDS | ||
Clinical Genetic Lab Results | X | |
INTERVIEW + ONLINE SURVEYS * | ||
Medical History | X | X |
Previous Diagnosis history (neuropsychiatric) | X | X |
Medications | X | X |
ONLINE SURVEYS | ||
NDAR Global Unique Identifiers | X | |
Children's Sleep Habits Questionnaire | X | |
Simons Searchlight Sleep Supplement | X | |
Seizure History | X | X |
Vineland Adaptive Behavior Scales 3rd Edition | X | X |
Background History | X | |
Child Behavior Checklist | X | X |
Social Responsiveness Scale-2 | X | X |
Social Communication Questionnaire | X | |
Quality of Life (QI-Disability and Family Impact) | X | |
Brief Developmental Update | X | X |
CSNK2A1 – casein kinase 2 alpha 1
Also known as: CK2A1, CKII, Cka1, Cka2, OCNDS
Location: 20p13
Amino acid count: 391
Exon count: 14
NCBI Orthologs: ncbi.nlm.nih.gov
Leiden Open Variation Database: databases.lovd.nl
OMIM Entry: omim.org
Simple ClinVar was developed to provide gene- and disease-wise summary statistic based on all available genetic variants from ClinVar.
UniProt is the world’s leading high-quality, comprehensive, and freely accessible resource of protein sequence and functional information.
Crystal Structure
Substrates
The Rebholz lab created a resource of CK2 substrates focused on the brain. See the list
here.
The Schwartz lab aims to provide tools that use experimental data combined with computational approaches to better understand CK2 activity. The ion channel predictor identifies possible CK2 phosphorylation sites of both wild type and K198R CK2. The quantitative proteomics database shares the results from our TMT-labeled mass spectrometry experiments looking at five human cell lines, four of which contain a variant CK2.
Signor is a resource that annotates experimental evidence about causal interactions between proteins and other entities of biological relevance: stimuli, phenotypes, enzyme inhibitors, complexes, protein families etc. Each entry points to the experimental evidence supporting the interaction and is enriched by additional relevant metadata such as the effect of the interaction on the activity of the target entity, the molecular mechanism underlying this effect, etc.
1520 FDA-approved & EMA-approved drugs for HTS and HCS screening
A team of in-house medicinal chemists and pharmacists has committed to selecting highly relevant screening compounds for >25 years, to offer a screening collection of off-patent drugs with high chemical and pharmacological diversity, as well as known bioavailability and safety in humans.
To date, CMap has generated a library containing over 1.5M gene expression profiles from ~5,000 small-molecule compounds, and ~3,000 genetic reagents, tested in multiple cell types. To produce data of that scale, we’ve developed L1000, a relatively inexpensive and rapid high-throughput gene expression profiling technology. Expression data are processed through a computational pipeline that converts raw fluorescence intensity into signatures, which can be used to query the CMap database for perturbations that give a related gene expression response.
AlphaFold is an AI system developed by DeepMind that predicts a protein’s 3D structure from its amino acid sequence. It regularly achieves accuracy competitive with experiment.
AlphaMissense is an adaptation of AlphaFold fine-tuned on human and primate variant population frequency databases to predict missense variant pathogenicity. By combining structural context and evolutionary conservation, the model achieves state-of-the-art results across a wide range of genetic and experimental benchmarks, all without explicitly training on such data.
We are focused on finding a cure for Okur-Chung Neurodevelopmental Syndrome and ensuring affected individuals have the opportunities and supports necessary for happy and full lives.
CSNK2A1
Foundation is operated and funded through a committed team of volunteers, advocates and researchers.
We are a 501(c)(3) non-profit organization.
EIN #82-4220939.
Address: 1929 Van Ness Avenue, San Francisco, CA 94109
Phone:
(415) 501-0147
Email:
info@csnk2a1foundation.org
The information provided is not intended to be a substitute for professional medical advice, diagnosis or treatment. Never disregard professional medical advice, or delay in seeking it, because of something you have read on this website. Read more...
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