| Variant ID | 29817 |
|---|---|
| Entrez Gene ID | 26986 |
| Gene | PABPC1 (GeneCards) |
| Location | hg19 8:101719145-101719145
hg38 8:100706917-100706917 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000008.10:g.101719145 C>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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0794 |
| CADD Raw score (version 1.3) | 3.349681 (Deleterious) |
| FATHMM raw prediction score | 0.97252 (Tolerated) |
| SIFT score | 0.25 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.14 (Deleterious) |
| PROVEAN score | -0.47 (Tolerated) |
| MetaSVM score | -1.053 (Tolerated) |
| MetaLR score | 0.103 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.63 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.313 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.034 |
| Deleterious probability by iFish2 | 0.3885 (Neutral) |
| Deleterious probability by DeFine | 0.9304 (Deleterious) |
| Entrez Gene ID | 26986 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PABPC1 (GeneCards) |
| Number of variants in PABPC1 in this database | 2 (view all the variants) |
| Full name | poly(A) binding protein cytoplasmic 1 |
| Band | 8q22.3 |
| Other IDs | Vega: OTTHUMG00000164779 OMIM: 604679 HGNC: HGNC:8554 Ensembl: ENSG00000070756 |
| Other names | PAB1, PABP, PABP1, PABPC2, PABPL1 |
| Summary | This gene encodes a poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3' poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The binding of this protein to poly(A) promotes ribosome recruitment and translation initiation; it is also required for poly(A) shortening which is the first step in mRNA decay. The gene is part of a small gene family including three protein-coding genes and several pseudogenes.[provided by RefSeq, Aug 2010] |
| Individual ID | 28867142.60 (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; |