SON
Chr 21ADSON DNA and RNA binding protein
Also known as: BASS1, C21orf50, DBP-5, NREBP, SON3, TOKIMS
The protein binds RNA and promotes pre-mRNA splicing, particularly for transcripts with poor splice sites. Loss-of-function mutations cause ZTTK syndrome, an autosomal dominant neurodevelopmental disorder. The gene is highly intolerant to loss-of-function variants, consistent with haploinsufficiency as the mechanism of disease.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SON · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Acoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) Study in Asymptomatic Carriers of a Pathogenic TTR Variant
RECRUITINGElacestrant + Everolimus in Patients ER+/HER2-, ESR1mut, Advanced Breast Cancer Progressing to ET and CDK4/6i.
RECRUITINGStudy of ctDNA as Prognostic Factor on Resectable Stage IIIA NSCLC Patients Treated With Neoadjuvant Treatment
ACTIVE NOT RECRUITINGUtilizing Long-read Sequencing to Investigate the EGFR Landscape of EGFR Positive Lung Cancer Patients
RECRUITINGOnline Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
RECRUITINGValidation of the SPOT-MAS Lung Test Using Circulating Tumor DNA for the Detection of Lung Cancer
NOT YET RECRUITINGStudy of Elranatamab for Relapsed or Refractory Myeloma in Patients Previously Exposed to Three-drug Classes
RECRUITINGStudy of Treatment With Sacituzumab and Zimberelimab for Patients With Lung Cancer Confined to the Chest and Previously Operated on Who Were Not Disease-free.
RECRUITINGA Study of Tulmimetostat DZR123 (CPI-0209) in Patients With Advanced Solid Tumors and Lymphomas
RECRUITINGHigh Definition Medicine for Solid Tumors Oncology
RECRUITINGDouble Blind Placebo Controlled Controlled Study of Adjuvant MEDI4736 In Completely Resected NSCLC
ACTIVE NOT RECRUITINGNeoadjuVAnt muLti-agENT Chemotherapy or Patritumab Deruxtecan With or Without endocrINE Therapy for High-risk HR+/HER2- Breast Cancer - VALENTINE Trial
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools