| Variant ID | 29715 |
|---|---|
| Entrez Gene ID | 55249 |
| Gene | YY1AP1 (GeneCards) |
| Location | hg19 1:155630566-155630566
hg38 1:155660775-155660775 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000001.10:g.155630566 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2705 |
| CADD Raw score (version 1.3) | 4.706786 (Deleterious) |
| FATHMM raw prediction score | 0.31427 (Tolerated) |
| SIFT score | 0.005 (Deleterious) |
| LRT score | 0.748 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.67 (Tolerated) |
| PROVEAN score | -3.38 (Deleterious) |
| MetaSVM score | -1.041 (Tolerated) |
| MetaLR score | 0.097 (Tolerated) |
| MCAP score | 0.011 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.53 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.884 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.072 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.067 |
| Deleterious probability by iFish2 | 0.0929 (Neutral) |
| Deleterious probability by DeFine | 0.7639 (Deleterious) |
| Entrez Gene ID | 55249 (NCBI Gene) |
|---|---|
| Official Gene Symbol | YY1AP1 (GeneCards) |
| Number of variants in YY1AP1 in this database | 1 (view all the variants) |
| Full name | YY1 associated protein 1 |
| Band | 1q22 |
| Other IDs | Vega: OTTHUMG00000035437 OMIM: 607860 HGNC: HGNC:30935 Ensembl: ENSG00000163374 |
| Other names | GRNG, HCCA1, HCCA2, YY1AP |
| Summary | The encoded gene product presumably interacts with YY1 protein; however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |