| Variant ID | 29262 |
|---|---|
| Entrez Gene ID | 2103 |
| Gene | ESRRB (GeneCards) |
| Location | hg19 14:76928944-76928944
hg38 14:76462601-76462601 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000014.8:g.76928944 C>T (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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4652547 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 0.9349 |
| CADD Raw score (version 1.3) | 6.532745 (Deleterious) |
| FATHMM raw prediction score | 0.96012 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.5 (Deleterious) |
| PROVEAN score | -6.95 (Deleterious) |
| MetaSVM score | 1.018 (Deleterious) |
| MetaLR score | 0.985 (Deleterious) |
| MCAP score | 0.733 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.08 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.852 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.545 |
| Deleterious probability by iFish2 | 0.9775 (Deleterious) |
| Deleterious probability by DeFine | 0.9753 (Deleterious) |
| Entrez Gene ID | 2103 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ESRRB (GeneCards) |
| Number of variants in ESRRB in this database | 5 (view all the variants) |
| Full name | estrogen related receptor beta |
| Band | 14q24.3 |
| Other IDs | Vega: OTTHUMG00000160457 OMIM: 602167 HGNC: HGNC:3473 Ensembl: ENSG00000119715 |
| Other names | ERR2, ERRb, ESRL2, NR3B2, DFNB35 |
| Summary | This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.139 (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; |