Developmental Brain Disorder Gene Database
Missense Gene
Gene
Search
Missense
- Unique Cases:
- 2
- Disorders:
- ID, EP
- Last Updated:
- January 4, 2024
Gene Summary:
- Gene Function
- Required for gap junction formation (Probable). Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction. {ECO:0000250|UniProtKB:Q9CPW0, ECO:0000305|PubMed:33238150}. (Source: Uniprot)
- Previous symbols
- No previous symbols
- Alias symbols
- Caspr2, KIAA0868, NRXN4
- Chromosomal Location
- 7q35-q36.1
- Genomic Coordinates
- GRCh37:chr7:145813453-148118090
- GRCh38:chr7:146116207-148420998
- Associated Disorders
- Intellectual Disability, Epilepsy
Predictive Scores:
- HI Score (Decipher)
4.94
- pLI (gnomAD)
0.00
- LOEUF (gnomAD)
0.55
Classifications from External Sources:
- SFARI Score (SFARI)
2
- DDG2P Classification (DDG2P)
No Classification
- ClinGen Classification (ClinGen)
Definitive1
Disputed1
- GenCC Classification (GenCC)
Definitive3 Moderate1 Supportive1 Strong1 Disputed Evidence1
Cases:
Publications:
Kang KW et. al., Genetic characteristics of non-familial epilepsy., PeerJ, 2019 |
Kurul SH et. al., High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases., Brain, 2021 |
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.
![ClinGen](https://dbd.geisingeradmi.org/external-resources/logo.png)
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.
![gnomAD](https://dbd.geisingeradmi.org/external-resources/gnomad.jpeg)
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.