| Variant ID | 29629 |
|---|---|
| Entrez Gene ID | 27185 |
| Gene | DISC1 (GeneCards) |
| Location | hg19 1:231935948-231935948
hg38 1:231800202-231800202 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.231935948 C>G (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6893 |
| CADD Raw score (version 1.3) | 6.453713 (Deleterious) |
| FATHMM raw prediction score | 0.96449 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.999 (Deleterious) |
| MutatioinAssessor score | 2.57 (Deleterious) |
| PROVEAN score | -2.1 (Tolerated) |
| MetaSVM score | -0.767 (Tolerated) |
| MetaLR score | 0.184 (Tolerated) |
| MCAP score | 0.045 (Deleterious) |
| FitCons score | 0.653 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.63 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.988 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.854 |
| Deleterious probability by iFish2 | 0.2663 (Neutral) |
| Deleterious probability by DeFine | 0.9464 (Deleterious) |
| Entrez Gene ID | 27185 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DISC1 (GeneCards) |
| Number of variants in DISC1 in this database | 1 (view all the variants) |
| Full name | DISC1 scaffold protein |
| Band | 1q42.2 |
| Other IDs | Vega: OTTHUMG00000037835 OMIM: 605210 HGNC: HGNC:2888 Ensembl: ENSG00000162946 |
| Other names | SCZD9, C1orf136 |
| Summary | This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.305 (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; |