| Variant ID | 29786 |
|---|---|
| Entrez Gene ID | 29964 |
| Gene | PRICKLE4 (GeneCards) |
| Location | hg19 6:41751917-41751917
hg38 6:41784179-41784179 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000006.11:g.41751917 G>C (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.7092 |
| CADD Raw score (version 1.3) | 0.761169 (Deleterious) |
| FATHMM raw prediction score | 0.03532 (Tolerated) |
| SIFT score | 0.232 (Tolerated) |
| LRT score | 0.194 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.345 (Tolerated) |
| PROVEAN score | -0.6 (Tolerated) |
| MetaSVM score | -0.997 (Tolerated) |
| MetaLR score | 0.108 (Tolerated) |
| MCAP score | 0.009 (Tolerated) |
| FitCons score | 0.677 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.51 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.437 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.418 |
| Deleterious probability by iFish2 | 0.0223 (Neutral) |
| Deleterious probability by DeFine | 0.7178 (Deleterious) |
| Entrez Gene ID | 29964 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRICKLE4 (GeneCards) |
| Number of variants in PRICKLE4 in this database | 1 (view all the variants) |
| Full name | prickle planar cell polarity protein 4 |
| Band | 6p21.1 |
| Other IDs | Vega: OTTHUMG00000188149 OMIM: 611389 HGNC: HGNC:16805 Ensembl: ENSG00000278224 |
| Other names | OBTP, OEBT, TOMM6, C6orf49 |
| Summary | C6ORF49 is a member of the LIM domain protein family (Teufel et al., 2005 [PubMed 15702247]).[supplied by OMIM, Mar 2008] |
| Individual ID | 28867142.38 (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; |