| Variant ID | 29807 |
|---|---|
| Entrez Gene ID | 4885 |
| Gene | NPTX2 (GeneCards) |
| Location | hg19 7:98256629-98256629
hg38 7:98627317-98627317 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000007.13:g.98256629 G>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 1.14 |
| CADD Raw score (version 1.3) | 0.596383 (Deleterious) |
| FATHMM raw prediction score | 0.95544 (Tolerated) |
| Deleterious probability by DeFine | 0.956 (Deleterious) |
| Entrez Gene ID | 4885 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NPTX2 (GeneCards) |
| Number of variants in NPTX2 in this database | 6 (view all the variants) |
| Full name | neuronal pentraxin 2 |
| Band | 7q22.1 |
| Other IDs | Vega: OTTHUMG00000154369 OMIM: 600750 HGNC: HGNC:7953 Ensembl: ENSG00000106236 |
| Other names | NP2, NARP, NP-II |
| Summary | This gene encodes a member of the family of neuronal petraxins, synaptic proteins that are related to C-reactive protein. This protein is involved in excitatory synapse formation. It also plays a role in clustering of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors at established synapses, resulting in non-apoptotic cell death of dopaminergic nerve cells. Up-regulation of this gene in Parkinson disease (PD) tissues suggests that the protein may be involved in the pathology of PD. [provided by RefSeq, Feb 2009] |
| Individual ID | 28867142.38 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |