| Variant ID | 29468 |
|---|---|
| Entrez Gene ID | 10113 |
| Gene | PREB (GeneCards) |
| Location | hg19 2:27354322-27354322
hg38 2:27131454-27131454 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000002.11:g.27354322 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1845 |
| CADD Raw score (version 1.3) | 2.291323 (Deleterious) |
| FATHMM raw prediction score | 0.83312 (Tolerated) |
| SIFT score | 0.16 (Tolerated) |
| LRT score | 0.22 (Tolerated) |
| MutationTaster score | 0.712 (Deleterious) |
| MutatioinAssessor score | 1.445 (Tolerated) |
| PROVEAN score | 0.28 (Tolerated) |
| MetaSVM score | -0.533 (Tolerated) |
| MetaLR score | 0.263 (Tolerated) |
| MCAP score | 0.057 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.17 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.776 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.399 |
| Deleterious probability by iFish2 | 0.0078 (Neutral) |
| Deleterious probability by DeFine | 0.9372 (Deleterious) |
| Entrez Gene ID | 10113 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PREB (GeneCards) |
| Number of variants in PREB in this database | 1 (view all the variants) |
| Full name | prolactin regulatory element binding |
| Band | 2p23.3 |
| Other IDs | Vega: OTTHUMG00000097076 OMIM: 606395 HGNC: HGNC:9356 Ensembl: ENSG00000138073 |
| Other names | SEC12 |
| Summary | This gene encodes a protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.144 (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; |