| Variant ID | 29896 |
|---|---|
| Entrez Gene ID | 79801 |
| Gene | SHCBP1 (GeneCards) |
| Location | hg19 16:46615744-46615744
hg38 16:46581832-46581832 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000016.9:g.46615744 G>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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003228 |
|---|---|
| Variant IDs in COSMIC (version 89) | 6777763 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | -0.6105 |
| CADD Raw score (version 1.3) | 1.345445 (Deleterious) |
| FATHMM raw prediction score | 0.8569 (Tolerated) |
| SIFT score | 0.114 (Tolerated) |
| LRT score | 0.011 (Tolerated) |
| MutationTaster score | 0.928 (Deleterious) |
| MutatioinAssessor score | 2.095 (Deleterious) |
| PROVEAN score | -1.13 (Tolerated) |
| MetaSVM score | -1.059 (Tolerated) |
| MetaLR score | 0.036 (Tolerated) |
| MCAP score | 0.003 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.11 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.863 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.987 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.694 |
| Deleterious probability by iFish2 | 0.149 (Neutral) |
| Deleterious probability by DeFine | 0.8435 (Deleterious) |
| Entrez Gene ID | 79801 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SHCBP1 (GeneCards) |
| Number of variants in SHCBP1 in this database | 1 (view all the variants) |
| Full name | SHC binding and spindle associated 1 |
| Band | 16q11.2 |
| Other IDs | Vega: OTTHUMG00000132540 OMIM: 611027 HGNC: HGNC:29547 Ensembl: ENSG00000171241 |
| Other names | PAL |
| Summary | None |
| Individual ID | 28867142.19 (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; |