| Variant ID | 29933 |
|---|---|
| Entrez Gene ID | 56265 |
| Gene | CPXM1 (GeneCards) |
| Location | hg19 20:2775947-2775947
hg38 20:2795301-2795301 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000020.10:g.2775947 G>A (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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003235 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs186626222 |
| Variant IDs in COSMIC (version 89) | 6635010 |
| Variant occurences in COSMIC | 1(haematopoietic_and_lymphoid_tissue)|1(large_intestine) |
| EIGEN score | 0.1655 |
| CADD Raw score (version 1.3) | 0.01774 (Deleterious) |
| FATHMM raw prediction score | 0.38369 (Tolerated) |
| Deleterious probability by DeFine | 0.7617 (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 | 28867142.23 (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; |