| Variant ID | 29325 |
|---|---|
| Entrez Gene ID | 56265 |
| Gene | CPXM1 (GeneCards) |
| Location | hg19 20:2775267-2775267
hg38 20:2794621-2794621 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000020.10:g.2775267 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9988 |
| CADD Raw score (version 1.3) | 7.326297 (Deleterious) |
| FATHMM raw prediction score | 0.9581 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.145 (Deleterious) |
| PROVEAN score | -7.63 (Deleterious) |
| MetaSVM score | 0.899 (Deleterious) |
| MetaLR score | 0.814 (Deleterious) |
| MCAP score | 0.269 (Deleterious) |
| FitCons score | 0.635 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.53 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.905 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.004 |
| Deleterious probability by iFish2 | 0.0953 (Neutral) |
| Deleterious probability by DeFine | 0.9661 (Deleterious) |
| Entrez Gene ID | 56265 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CPXM1 (GeneCards) |
| Number of variants in CPXM1 in this database | 3 (view all the variants) |
| Full name | carboxypeptidase X, M14 family member 1 |
| Band | 20p13 |
| Other IDs | Vega: OTTHUMG00000031706 OMIM: 609555 HGNC: HGNC:15771 Ensembl: ENSG00000088882 |
| Other names | CPX1, CPXM |
| Summary | This gene likely encodes a member of the carboxypeptidase family of proteins. Cloning of a comparable locus in mouse indicates that the encoded protein contains a discoidin domain and a carboxypeptidase domain, but the protein appears to lack residues necessary for carboxypeptidase activity.[provided by RefSeq, May 2010] |
| Individual ID | 28714951.01 (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; |