| Variant ID | 29852 |
|---|---|
| Entrez Gene ID | 359787 |
| Gene | DPPA3 (GeneCards) |
| Location | hg19 12:7864175-7864175
hg38 12:7711579-7711579 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000012.11:g.7864175 A>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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1467 |
| CADD Raw score (version 1.3) | -0.945668 (Deleterious) |
| FATHMM raw prediction score | 0.13516 (Tolerated) |
| Deleterious probability by DeFine | 0.8079 (Deleterious) |
| Entrez Gene ID | 359787 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DPPA3 (GeneCards) |
| Number of variants in DPPA3 in this database | 2 (view all the variants) |
| Full name | developmental pluripotency associated 3 |
| Band | 12p13.31 |
| Other IDs | Vega: OTTHUMG00000168434 OMIM: 608408 HGNC: HGNC:19199 Ensembl: ENSG00000187569 |
| Other names | Pgc7, STELLA |
| Summary | This gene encodes a protein that in mice may function as a maternal factor during the preimplantation stage of development. In mice, this gene may play a role in transcriptional repression, cell division, and maintenance of cell pluripotentiality. In humans, related intronless loci are located on chromosomes 14 and X. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.14 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |