| Variant ID | 29129 |
|---|---|
| Entrez Gene ID | 79869 |
| Gene | CPSF7 (GeneCards) |
| Location | hg19 11:61187420-61187420
hg38 11:61419948-61419948 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000011.9:g.61187420 C>T (Genome Assembly: GRCh37) |
| 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0087 |
| CADD Raw score (version 1.3) | 6.289587 (Deleterious) |
| FATHMM raw prediction score | 0.98686 (Tolerated) |
| SIFT score | 0.014 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.7 (Tolerated) |
| PROVEAN score | -1.68 (Tolerated) |
| MetaSVM score | -0.745 (Tolerated) |
| MetaLR score | 0.24 (Tolerated) |
| MCAP score | 0.018 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.15 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.646 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.09 |
| Deleterious probability by iFish2 | 0.173 (Neutral) |
| Deleterious probability by DeFine | 0.9702 (Deleterious) |
| Entrez Gene ID | 79869 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CPSF7 (GeneCards) |
| Number of variants in CPSF7 in this database | 1 (view all the variants) |
| Full name | cleavage and polyadenylation specific factor 7 |
| Band | 11q12.2 |
| Other IDs | Vega: OTTHUMG00000168198 HGNC: HGNC:30098 Ensembl: ENSG00000149532 |
| Other names | CFIm59 |
| Summary | Cleavage factor Im (CFIm) is one of six factors necessary for correct cleavage and polyadenylation of pre-mRNAs. CFIm is composed of three different subunits of 25, 59, and 68 kDa, and it functions as a heterotetramer, with a dimer of the 25 kDa subunit binding to two of the 59 or 68 kDa subunits. The protein encoded by this gene represents the 59 kDa subunit, which can interact with the splicing factor U2 snRNP Auxiliary Factor (U2AF) 65 to link the splicing and polyadenylation complexes. [provided by RefSeq, Oct 2016] |
| Individual ID | 28503910.06 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |