| Variant ID | 29944 |
|---|---|
| Entrez Gene ID | 5456 |
| Gene | POU3F4 (GeneCards) |
| Location | hg19 X:82764282-82764282
hg38 X:83509274-83509274 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000023.10:g.82764282 T>C (Genome Assembly: hg19) |
| 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 5.312224 (Deleterious) |
| FATHMM raw prediction score | 0.9777 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.14 (Deleterious) |
| PROVEAN score | -6 (Deleterious) |
| MetaSVM score | 1.03 (Deleterious) |
| MetaLR score | 0.981 (Deleterious) |
| MCAP score | 0.943 (Deleterious) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.07 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.838 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.838 |
| Deleterious probability by iFish2 | 0.9532 (Deleterious) |
| Deleterious probability by DeFine | 0.9552 (Deleterious) |
| Entrez Gene ID | 5456 (NCBI Gene) |
|---|---|
| Official Gene Symbol | POU3F4 (GeneCards) |
| Number of variants in POU3F4 in this database | 4 (view all the variants) |
| Full name | POU class 3 homeobox 4 |
| Band | Xq21.1 |
| Other IDs | Vega: OTTHUMG00000021919 OMIM: 300039 HGNC: HGNC:9217 Ensembl: ENSG00000196767 |
| Other names | BRN4, DFN3, OTF9, BRN-4, DFNX2, OCT-9, OTF-9, BRAIN-4 |
| Summary | This gene encodes a member of the POU-III class of neural transcription factors. This family member plays a role in inner ear development. The protein is thought to be involved in the mediation of epigenetic signals which induce striatal neuron-precursor differentiation. Mutations in this gene are associated with X chromosome-linked nonsyndromic mixed deafness. [provided by RefSeq, Dec 2012] |
| Individual ID | 28867142.25 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |