| Variant ID | 29846 |
|---|---|
| Entrez Gene ID | 9789 |
| Gene | SPCS2 (GeneCards) |
| Location | hg19 11:74660408-74660408
hg38 11:74949363-74949363 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000011.9:g.74660408 C>A (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1653 |
| CADD Raw score (version 1.3) | 7.07285 (Deleterious) |
| FATHMM raw prediction score | 0.95049 (Tolerated) |
| LRT score | 0.272 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.442 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.07 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.09 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.81 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.452 |
| Deleterious probability by DeFine | 0.9457 (Deleterious) |
| Entrez Gene ID | 9789 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPCS2 (GeneCards) |
| Number of variants in SPCS2 in this database | 1 (view all the variants) |
| Full name | signal peptidase complex subunit 2 |
| Band | 11q13.4 |
| Other IDs | Vega: OTTHUMG00000165517 HGNC: HGNC:28962 Ensembl: ENSG00000118363 |
| Other names | None |
| Summary | None |
| Individual ID | 28867142.12 (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; |