| Variant ID | 29155 |
|---|---|
| Entrez Gene ID | 6721 |
| Gene | SREBF2 (GeneCards) |
| Location | hg19 22:42294664-42294664
hg38 22:41898660-41898660 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000022.10:g.42294664 A>G (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 | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0.0002 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1495278 |
| Variant occurences in COSMIC | 1(kidney) |
| EIGEN score | -1.1192 |
| CADD Raw score (version 1.3) | -0.485828 (Deleterious) |
| FATHMM raw prediction score | 0.19085 (Tolerated) |
| SIFT score | 1 (Tolerated) |
| LRT score | 0.023 (Tolerated) |
| MutationTaster score | 0.999 (Tolerated) |
| MutatioinAssessor score | -1.3 (Tolerated) |
| PROVEAN score | 0.26 (Tolerated) |
| MetaSVM score | -0.958 (Tolerated) |
| MetaLR score | 0.006 (Tolerated) |
| MCAP score | 0.002 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -2.6 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.015 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.051 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.797 |
| Deleterious probability by iFish2 | 0.0059 (Neutral) |
| Deleterious probability by DeFine | 0.8412 (Deleterious) |
| Entrez Gene ID | 6721 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SREBF2 (GeneCards) |
| Number of variants in SREBF2 in this database | 1 (view all the variants) |
| Full name | sterol regulatory element binding transcription factor 2 |
| Band | 22q13.2 |
| Other IDs | Vega: OTTHUMG00000151261 OMIM: 600481 HGNC: HGNC:11290 Ensembl: ENSG00000198911 |
| Other names | SREBP2, bHLHd2, SREBP-2 |
| Summary | This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] |
| Individual ID | 28503910.32 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| 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; |