| Variant ID | 29402 |
|---|---|
| Entrez Gene ID | 7857 |
| Gene | SCG2 (GeneCards) |
| Location | hg19 2:224463202-224463202
hg38 2:223598484-223598484 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000002.11:g.224463202 C>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 | 0.6906 |
| CADD Raw score (version 1.3) | 5.966273 (Deleterious) |
| FATHMM raw prediction score | 0.94855 (Tolerated) |
| SIFT score | 0.006 (Deleterious) |
| LRT score | 0.001 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.42 (Deleterious) |
| PROVEAN score | -4.33 (Deleterious) |
| MetaSVM score | -1.201 (Tolerated) |
| MetaLR score | 0.029 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.74 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.856 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.94 |
| Deleterious probability by iFish2 | 0.5125 (Deleterious) |
| Deleterious probability by DeFine | 0.872 (Deleterious) |
| Entrez Gene ID | 7857 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SCG2 (GeneCards) |
| Number of variants in SCG2 in this database | 1 (view all the variants) |
| Full name | secretogranin II |
| Band | 2q36.1 |
| Other IDs | Vega: OTTHUMG00000133166 OMIM: 118930 HGNC: HGNC:10575 Ensembl: ENSG00000171951 |
| Other names | SN, CHGC, EM66, SgII |
| Summary | The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Studies in rodents suggest that the full-length protein, secretogranin II, is involved in the packaging or sorting of peptide hormones and neuropeptides into secretory vesicles. The full-length protein is cleaved to produce the active peptide secretoneurin, which exerts chemotaxic effects on specific cell types, and EM66, whose function is unknown. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.78 (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; |