| Variant ID | 21057 |
|---|---|
| Entrez Gene ID | 64100 |
| Gene | ELSPBP1 (GeneCards) |
| Location | hg19 19:48511851-48511851
hg38 19:48008594-48008594 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000019.9:g.48511851 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3547 |
| CADD Raw score (version 1.3) | -0.218546 (Deleterious) |
| FATHMM raw prediction score | 0.0994 (Tolerated) |
| Deleterious probability by DeFine | 0.2416 (Neutral) |
| Entrez Gene ID | 64100 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ELSPBP1 (GeneCards) |
| Number of variants in ELSPBP1 in this database | 2 (view all the variants) |
| Full name | epididymal sperm binding protein 1 |
| Band | 19q13.33 |
| Other IDs | Vega: OTTHUMG00000183138 OMIM: 607443 HGNC: HGNC:14417 Ensembl: ENSG00000169393 |
| Other names | E12, HE12, EL149, EDDM12 |
| Summary | The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains in the Fn2-module protein family. [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; |