| Variant ID | 29295 |
|---|---|
| Entrez Gene ID | 23513 |
| Gene | SCRIB (GeneCards) |
| Location | hg19 8:144895053-144895053
hg38 8:143812883-143812883 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000008.10:g.144895053 C>G (Genome Assembly: GRCh37) |
| 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 | 0.2868 |
| CADD Raw score (version 1.3) | 5.797913 (Deleterious) |
| FATHMM raw prediction score | 0.95387 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.915 (Tolerated) |
| PROVEAN score | -7.2 (Deleterious) |
| MetaSVM score | 0.12 (Deleterious) |
| MetaLR score | 0.48 (Tolerated) |
| MCAP score | 0.726 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.44 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.904 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.402 |
| Deleterious probability by iFish2 | 0.9229 (Deleterious) |
| Deleterious probability by DeFine | 0.9469 (Deleterious) |
| Entrez Gene ID | 23513 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SCRIB (GeneCards) |
| Number of variants in SCRIB in this database | 2 (view all the variants) |
| Full name | scribbled planar cell polarity protein |
| Band | 8q24.3 |
| Other IDs | Vega: OTTHUMG00000165154 OMIM: 607733 HGNC: HGNC:30377 Ensembl: ENSG00000180900 |
| Other names | CRIB1, SCRB1, SCRIB1, Vartl |
| Summary | This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2011] |
| Individual ID | 28503910.172 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |