| Variant ID | 29153 |
|---|---|
| Entrez Gene ID | 79663 |
| Gene | HSPBAP1 (GeneCards) |
| Location | hg19 3:122487519-122487519
hg38 3:122768672-122768672 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000003.11:g.122487519 C>G (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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1526 |
| CADD Raw score (version 1.3) | 0.233434 (Deleterious) |
| FATHMM raw prediction score | 0.21281 (Tolerated) |
| Deleterious probability by DeFine | 0.538 (Deleterious) |
| Entrez Gene ID | 79663 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HSPBAP1 (GeneCards) |
| Number of variants in HSPBAP1 in this database | 1 (view all the variants) |
| Full name | HSPB1 associated protein 1 |
| Band | 3q21.1 |
| Other IDs | Vega: OTTHUMG00000159550 OMIM: 608263 HGNC: HGNC:16389 Ensembl: ENSG00000169087 |
| Other names | PASS1 |
| Summary | This gene encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell growth and differentiation. This encoded protein was found to be abnormally expressed in patients with intractable epilepsy, although how brain function is affected remains unknown. [provided by RefSeq, Sep 2011] |
| Individual ID | 28503910.30 (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; |