| Variant ID | 29429 |
|---|---|
| Entrez Gene ID | 3159 |
| Gene | HMGA1 (GeneCards) |
| Location | hg19 6:34208681-34208681
hg38 6:34240904-34240904 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000006.11:g.34208681 G>A (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003232 |
|---|---|
| EIGEN score | 0.1666 |
| CADD Raw score (version 1.3) | 2.846414 (Deleterious) |
| FATHMM raw prediction score | 0.94107 (Tolerated) |
| SIFT score | 0.035 (Deleterious) |
| LRT score | 0.041 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.805 (Tolerated) |
| PROVEAN score | -0.24 (Tolerated) |
| MetaSVM score | -1.116 (Tolerated) |
| MetaLR score | 0.07 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.35 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.476 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.672 |
| Deleterious probability by iFish2 | 0.0969 (Neutral) |
| Deleterious probability by DeFine | 0.9709 (Deleterious) |
| Entrez Gene ID | 3159 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HMGA1 (GeneCards) |
| Number of variants in HMGA1 in this database | 2 (view all the variants) |
| Full name | high mobility group AT-hook 1 |
| Band | 6p21.31 |
| Other IDs | Vega: OTTHUMG00000014539 OMIM: 600701 HGNC: HGNC:5010 Ensembl: ENSG00000137309 |
| Other names | HMG-R, HMGIY, HMGA1A |
| Summary | This gene encodes a chromatin-associated protein involved in the regulation of gene transcription, integration of retroviruses into chromosomes, and the metastatic progression of cancer cells. The encoded protein preferentially binds to the minor groove of AT-rich regions in double-stranded DNA. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been identified on multiple chromosomes. [provided by RefSeq, Jan 2016] |
| Individual ID | 28714951.105 (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; |