| Variant ID | 29762 |
|---|---|
| Entrez Gene ID | 1062 |
| Gene | CENPE (GeneCards) |
| Location | hg19 4:104066794-104066794
hg38 4:103145637-103145637 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000004.11:g.104066794 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 1.1359 |
| CADD Raw score (version 1.3) | 1.323974 (Deleterious) |
| FATHMM raw prediction score | 0.86123 (Tolerated) |
| Deleterious probability by DeFine | 0.8264 (Deleterious) |
| Entrez Gene ID | 1062 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CENPE (GeneCards) |
| Number of variants in CENPE in this database | 3 (view all the variants) |
| Full name | centromere protein E |
| Band | 4q24 |
| Other IDs | Vega: OTTHUMG00000160980 OMIM: 117143 HGNC: HGNC:1856 Ensembl: ENSG00000138778 |
| Other names | KIF10, CENP-E, MCPH13, PPP1R61 |
| Summary | Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014] |
| Individual ID | 28867142.33 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |