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 |