| Variant ID | 29309 |
|---|---|
| Entrez Gene ID | 10847 |
| Gene | SRCAP (GeneCards) |
| Location | hg19 16:30740318-30740318
hg38 16:30728997-30728997 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000016.9:g.30740318 G>A (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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003232 |
|---|---|
| Variant IDs in COSMIC (version 89) | 6505765 |
| Variant occurences in COSMIC | 1(cervix) |
| EIGEN score | 0.1505 |
| CADD Raw score (version 1.3) | 4.507297 (Deleterious) |
| FATHMM raw prediction score | 0.80755 (Tolerated) |
| SIFT score | 0.009 (Deleterious) |
| LRT score | 0.006 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.695 (Tolerated) |
| PROVEAN score | -2.62 (Deleterious) |
| MetaSVM score | -0.194 (Tolerated) |
| MetaLR score | 0.54 (Deleterious) |
| MCAP score | 0.083 (Deleterious) |
| FitCons score | 0.713 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.44 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.206 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.997 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 4.423 |
| Deleterious probability by iFish2 | 0.1752 (Neutral) |
| Deleterious probability by DeFine | 0.8922 (Deleterious) |
| Entrez Gene ID | 10847 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SRCAP (GeneCards) |
| Number of variants in SRCAP in this database | 1 (view all the variants) |
| Full name | Snf2 related CREBBP activator protein |
| Band | 16p11.2 |
| Other IDs | Vega: OTTHUMG00000132393 OMIM: 611421 HGNC: HGNC:16974 Ensembl: ENSG00000080603 |
| Other names | EAF1, FLHS, SWR1, DOMO1 |
| Summary | This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012] |
| Individual ID | 28503910.186 (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; |