Developmental Brain Disorder Gene Database
LoF Variant Gene
Gene
Search
Tier
1
- Unique Cases:
- 4
- Disorders:
- ASD, EP
- Last Updated:
- January 24, 2024
Gene Summary:
- DBD Genes Classification
- NCKAP1 is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic loss-of-function variants.
- Gene Function
- Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex. Actin remodeling activity is regulated by RAC1. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes. {ECO:0000250|UniProtKB:P28660}. (Source: Uniprot)
- Previous symbols
- No previous symbols
- Alias symbols
- Nap1, HEM2, NAP125
- Chromosomal Location
- 2q32.1
- Genomic Coordinates
- GRCh37:chr2:183789579-183903586
- GRCh38:chr2:182909115-183038457
- Associated Disorders
- Autism, Epilepsy
Cases:
Publications:
Iossifov I et. al., De novo gene disruptions in children on the autistic spectrum., Neuron, 2012 |
Iossifov I et. al., The contribution of de novo coding mutations to autism spectrum disorder., Nature, 2014 |
Beighley JS et. al., Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes., Biol Psychiatry, 2020 |
Guo H et. al., Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model., Mol Autism, 2018 |
External References:
![Medgen](https://dbd.geisingeradmi.org/external-resources/medgen.png)
NCBI: Gene
Integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
![Gene reviews](https://dbd.geisingeradmi.org/external-resources/gene_reviews.png)
Gene Reviews
An international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
![Decipher](https://dbd.geisingeradmi.org/external-resources/decipher-logo-grch38.png)
DECIPHER
DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants.
DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient.
![SFARI](https://dbd.geisingeradmi.org/external-resources/SFARI_Logo_2.jpeg)
SFARI
SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.
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ClinGen
ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
![GenCC](https://dbd.geisingeradmi.org/external-resources/genecc-logo.jpeg)
GenCC
The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.
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gnomAD
The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.