CHD Chromodomain Helicase DNA-binding protein
CHD CHD8 gene
aa amino acid
ASD Autism Spectrum Disorders
ATP Adenosine triphosphate
BLAST Basic Local Alignment Search Tool
BRK Brahma and Kismet
CLS Cytoplasmic Localization Sequence
CONDEL CONsensus DELeteriousness
D Deleterious and/or Destabilizing
dbSNP database of SNPs
DEG Differentially Expressed genes
DEPICTER DisorderEd PredictIon CenTER
DNA Dioxy-ribonucleic acid
ENCoM Elastic Network Contact Model
EVS Exome Variant Server
ExAC Exome Aggregate Consortium
FATHMM Functional Analysis Through Hidden Markov Models
GI Gastrointestinal
GMQE Global Model Quality Estimate
gnomAD Genome Aggregation Database
GSEA Gene-Set Enrichment Analysis
hNPC human Neuronal Progenitor Cells
ID Intellectual Disability
IDP Intrinsically Disordered Protein
IDPRs Intrinsically Disordered Protein Regions
IPA Ingenuity Pathway Analysis
i-Stable Integrated predictor for protein stability change upon single mutation
IUPred2A Intrinsically unstructured/disordered proteins prediction
LoF Loss-of-Function
LOF Loss of Function
M Motif
MA Mutation Assessor
MDS Molecular Dynamics Simulation
ModPred Modification Prediction
MoRFs Molecular Recognition Features
MPQS ModPipe Quality Score
Mupro MutationsProtein
NCBI National Center for Biotechnology Information
NLS Nuclear Localization Sequence
NMA Normal Mode Analysis
nsSNPs nonsynonymous Single Nucleotide Polymorphisms
PANTHER Protein ANalysis THrough Evolutionary Relationships
PBD PDZ Binding Domain
PBM PIP2 Binding Motif
PDB Protein Data Bank
PDB ID Protein Database Identification
PEST domain Proline (P), Glutamic Acid (E), Serine (S), and Threonine (T)
PhD-SNPg Predicting human Deleterious SNPs in human genome
Pmut Pathology of Mutations
PolyPhen-2 Polymorphism Phenotyping v2
PPI Protein-Protein Interactions
PPI Protein- Protein Interaction
ProjectHOPE Project Have Our Protein Explained
PROVEAN Protein Variation Effect Analyzer
PTMs Post-Translational Modification
QMEAN Qualitative Model Energy Analysis
QSQE Quaternary Structure Quality Estimate
RCSB Research Collaboratory for Structural Bioinformatics
RNA Ribonucleic acid
SANT switching-defective protein 3, adaptor 2, nuclear receptor co-repressor, transcription factor IIIB
SAV Splice Affecting Variants
SFARI Simons Foundation Autism Research Initiative
SIFT Sorting Intolerant from Tolerant
SNAP2 Screening for Non-Acceptable Polymorphisms 2
SNF2 Sucrose NonFermentable2
SNP Single Nucleotide Polymorphism
SNPs&GO Single Nucleotide Polymorphism Database & Gene Ontology
TF transcription factor
TFBS transcription factor binding sites
UTRs 3’, 5’ Untranslated Regions