| Variant ID | 29637 |
|---|---|
| Entrez Gene ID | 9924 |
| Gene | PAN2 (GeneCards) |
| Location | hg19 12:56720411-56720411
hg38 12:56326627-56326627 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000012.11:g.56720411 G>A (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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3106 |
| CADD Raw score (version 1.3) | 4.289607 (Deleterious) |
| FATHMM raw prediction score | 0.98523 (Tolerated) |
| SIFT score | 0.16 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.125 (Deleterious) |
| PROVEAN score | -1.14 (Tolerated) |
| MetaSVM score | -1.071 (Tolerated) |
| MetaLR score | 0.059 (Tolerated) |
| MCAP score | 0.008 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.08 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.205 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.774 |
| Deleterious probability by iFish2 | 0.7987 (Deleterious) |
| Deleterious probability by DeFine | 0.9662 (Deleterious) |
| Entrez Gene ID | 9924 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PAN2 (GeneCards) |
| Number of variants in PAN2 in this database | 1 (view all the variants) |
| Full name | poly(A) specific ribonuclease subunit PAN2 |
| Band | 12q13.3 |
| Other IDs | Vega: OTTHUMG00000170412 OMIM: 617447 HGNC: HGNC:20074 Ensembl: ENSG00000135473 |
| Other names | USP52 |
| Summary | This gene encodes a deadenylase that functions as the catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex. The encoded protein is a magnesium dependent 3' to 5' exoribonuclease that is involved in the degradation of cytoplasmic mRNAs. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] |
| Individual ID | 28714951.313 (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; |