| Variant ID | 29330 |
|---|---|
| Entrez Gene ID | 24145 |
| Gene | PANX1 (GeneCards) |
| Location | hg19 11:93913089-93913089
hg38 11:94179923-94179923 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000011.9:g.93913089 C>T (Genome Assembly: hg19) |
| 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | -0.3078 |
| CADD Raw score (version 1.3) | 0.74462 (Deleterious) |
| FATHMM raw prediction score | 0.09844 (Tolerated) |
| Deleterious probability by DeFine | 0.8502 (Deleterious) |
| Entrez Gene ID | 24145 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PANX1 (GeneCards) |
| Number of variants in PANX1 in this database | 6 (view all the variants) |
| Full name | pannexin 1 |
| Band | 11q21 |
| Other IDs | Vega: OTTHUMG00000167757 OMIM: 608420 HGNC: HGNC:8599 Ensembl: ENSG00000110218 |
| Other names | PX1, MRS1, UNQ2529 |
| Summary | The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.06 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |