| Variant ID | 29820 |
|---|---|
| Entrez Gene ID | 83481 |
| Gene | EPPK1 (GeneCards) |
| Location | hg19 8:144940414-144940414
hg38 8:143866246-143866246 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000008.10:g.144940414 G>A (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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.4752 |
| CADD Raw score (version 1.3) | 0.968189 (Deleterious) |
| FATHMM raw prediction score | 0.89486 (Tolerated) |
| Deleterious probability by DeFine | 0.8276 (Deleterious) |
| Entrez Gene ID | 83481 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EPPK1 (GeneCards) |
| Number of variants in EPPK1 in this database | 3 (view all the variants) |
| Full name | epiplakin 1 |
| Band | 8q24.3 |
| Other IDs | Vega: OTTHUMG00000165206 OMIM: 607553 HGNC: HGNC:15577 Ensembl: ENSG00000261150 |
| Other names | EPIPL, EPIPL1 |
| Summary | The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013] |
| Individual ID | 28867142.68 (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; |