| Variant ID | 6368 |
|---|---|
| Entrez Gene ID | 2996 |
| Gene | GYPE (GeneCards) |
| Location | hg19 4:144817881-144817881
hg38 4:143896728-143896728 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.144817881 T>C (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2223 |
| CADD Raw score (version 1.3) | -0.371063 (Deleterious) |
| FATHMM raw prediction score | 0.11889 (Tolerated) |
| Deleterious probability by DeFine | 0.0371 (Neutral) |
| Entrez Gene ID | 2996 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GYPE (GeneCards) |
| Number of variants in GYPE in this database | 2 (view all the variants) |
| Full name | glycophorin E (MNS blood group) |
| Band | 4q31.21 |
| Other IDs | Vega: OTTHUMG00000161402 OMIM: 138590 HGNC: HGNC:4705 Ensembl: ENSG00000197465 |
| Other names | GPE, MNS, MiIX |
| Summary | The protein encoded by this gene is a sialoglycoprotein and a type I membrane protein. It is a member of a gene family with GPA and GPB genes. This encoded protein might carry the M blood group antigen. GYPA, GYPB, and GYPE are organized in tandem on chromosome 4. This gene might have derived from an ancestral gene common to the GPB gene by gene duplication. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.08 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |