| Variant ID | 29142 |
|---|---|
| Entrez Gene ID | 7392 |
| Gene | USF2 (GeneCards) |
| Location | hg19 19:35761322-35761322
hg38 19:35270419-35270419 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000019.9:g.35761322 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2349 |
| CADD Raw score (version 1.3) | 0.534428 (Deleterious) |
| FATHMM raw prediction score | 0.20102 (Tolerated) |
| Deleterious probability by DeFine | 0.7343 (Deleterious) |
| Entrez Gene ID | 7392 (NCBI Gene) |
|---|---|
| Official Gene Symbol | USF2 (GeneCards) |
| Number of variants in USF2 in this database | 2 (view all the variants) |
| Full name | upstream transcription factor 2, c-fos interacting |
| Band | 19q13.12 |
| Other IDs | Vega: OTTHUMG00000183182 OMIM: 600390 HGNC: HGNC:12594 Ensembl: ENSG00000105698 |
| Other names | FIP, bHLHb12 |
| Summary | This gene encodes a member of the basic helix-loop-helix leucine zipper family of transcription factors. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs and is involved in regulating multiple cellular processes. [provided by RefSeq, Mar 2016] |
| Individual ID | 28503910.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| 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; |