| Variant ID | 11346 |
|---|---|
| Entrez Gene ID | 26047 |
| Gene | CNTNAP2 (GeneCards) |
| Location | hg19 7:148171371-148171371
hg38 7:148474279-148474279 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.148171371 T>C (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1634 |
| CADD Raw score (version 1.3) | -0.198261 (Deleterious) |
| FATHMM raw prediction score | 0.12302 (Tolerated) |
| Deleterious probability by DeFine | 0.2752 (Neutral) |
| Entrez Gene ID | 26047 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CNTNAP2 (GeneCards) |
| Number of variants in CNTNAP2 in this database | 21 (view all the variants) |
| Full name | contactin associated protein like 2 |
| Band | 7q35-q36.1 |
| Other IDs | Vega: OTTHUMG00000152743 OMIM: 604569 HGNC: HGNC:13830 Ensembl: ENSG00000174469 |
| Other names | CDFE, NRXN4, AUTS15, CASPR2, PTHSL1 |
| Summary | This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2, a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and intellectual disability. [provided by RefSeq, Jul 2017] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |