| Variant ID | 29526 |
|---|---|
| Entrez Gene ID | 2996 |
| Gene | GYPE (GeneCards) |
| Location | hg19 4:144797973-144797973
hg38 4:143876820-143876820 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000004.11:g.144797973 C>T (Genome Assembly: hg19) |
| 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 | -1.0759 |
| CADD Raw score (version 1.3) | -1.35457 (Deleterious) |
| FATHMM raw prediction score | 0.01163 (Tolerated) |
| SIFT score | 1 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| PROVEAN score | 0.63 (Tolerated) |
| MetaSVM score | -0.947 (Tolerated) |
| MetaLR score | 0.004 (Tolerated) |
| MCAP score | 0.002 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.055 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.269 |
| Deleterious probability by iFish2 | 0.0033 (Neutral) |
| Deleterious probability by DeFine | 0.0826 (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 | 28714951.202 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |