| Variant ID | 12675 |
|---|---|
| Entrez Gene ID | 1978 |
| Gene | EIF4EBP1 (GeneCards) |
| Location | hg19 8:37938673-37938673
hg38 8:38081155-38081155 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.37938673 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1217 |
| CADD Raw score (version 1.3) | 0.201962 (Deleterious) |
| FATHMM raw prediction score | 0.16222 (Tolerated) |
| Deleterious probability by DeFine | 0.088 (Neutral) |
| Entrez Gene ID | 1978 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EIF4EBP1 (GeneCards) |
| Number of variants in EIF4EBP1 in this database | 1 (view all the variants) |
| Full name | eukaryotic translation initiation factor 4E binding protein 1 |
| Band | 8p11.23 |
| Other IDs | Vega: OTTHUMG00000164012 OMIM: 602223 HGNC: HGNC:3288 Ensembl: ENSG00000187840 |
| Other names | BP-1, 4EBP1, 4E-BP1, PHAS-I |
| Summary | This gene encodes one member of a family of translation repressor proteins. The protein directly interacts with eukaryotic translation initiation factor 4E (eIF4E), which is a limiting component of the multisubunit complex that recruits 40S ribosomal subunits to the 5' end of mRNAs. Interaction of this protein with eIF4E inhibits complex assembly and represses translation. This protein is phosphorylated in response to various signals including UV irradiation and insulin signaling, resulting in its dissociation from eIF4E and activation of mRNA translation. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (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; |