| Variant ID | 29653 |
|---|---|
| Entrez Gene ID | 129607 |
| Gene | CMPK2 (GeneCards) |
| Location | hg19 2:6990025-6990025
hg38 2:6849894-6849894 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000002.11:g.6990025 G>A (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4755 |
| CADD Raw score (version 1.3) | 10.566529 (Deleterious) |
| FATHMM raw prediction score | 0.96832 (Tolerated) |
| LRT score | 0.03 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.77 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.828 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.265 |
| Deleterious probability by DeFine | 0.8863 (Deleterious) |
| Entrez Gene ID | 129607 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CMPK2 (GeneCards) |
| Number of variants in CMPK2 in this database | 3 (view all the variants) |
| Full name | cytidine/uridine monophosphate kinase 2 |
| Band | 2p25.2 |
| Other IDs | Vega: OTTHUMG00000151629 OMIM: 611787 HGNC: HGNC:27015 Ensembl: ENSG00000134326 |
| Other names | NDK, TYKi, TMPK2, UMP-CMPK2 |
| Summary | This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] |
| Individual ID | 28714951.329 (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; |