| Variant ID | 19208 |
|---|---|
| Entrez Gene ID | 23431 |
| Gene | AP4E1 (GeneCards) |
| Location | hg19 15:51239042-51239042
hg38 15:50946845-50946845 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.51239042 G>A (Genome Assembly: GRCh37) |
| 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3053 |
| CADD Raw score (version 1.3) | -0.261252 (Deleterious) |
| FATHMM raw prediction score | 0.1032 (Tolerated) |
| Deleterious probability by DeFine | 0.4197 (Neutral) |
| Entrez Gene ID | 23431 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AP4E1 (GeneCards) |
| Number of variants in AP4E1 in this database | 3 (view all the variants) |
| Full name | adaptor related protein complex 4 subunit epsilon 1 |
| Band | 15q21.2 |
| Other IDs | Vega: OTTHUMG00000172458 OMIM: 607244 HGNC: HGNC:573 Ensembl: ENSG00000081014 |
| Other names | CPSQ4, SPG51, STUT1 |
| Summary | This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |