| Variant ID | 1243 |
|---|---|
| Entrez Gene ID | 1499 |
| Gene | CTNNB1 (GeneCards) |
| Location | hg19 3:41274877-41274877
hg38 3:41233386-41233386 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000003.11:g.41274877 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 376 |
| Amino acid changes in protein | R > H |
| Position in cDNA | 1127 |
| Changes in cDNA | G > A |
| mRNA accession | NM_001098209.1 |
| mRNA length | 3415 |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 327069 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 1.02 |
| CADD Raw score (version 1.3) | 7.268903 (Deleterious) |
| FATHMM raw prediction score | 0.99533 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.09 (Deleterious) |
| PROVEAN score | -4.6 (Deleterious) |
| MetaSVM score | 0.239 (Deleterious) |
| MetaLR score | 0.575 (Deleterious) |
| MCAP score | 0.057 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.72 |
| PhyloP score based on multiple alignment of 100 vertebrates | 10.003 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.874 |
| Deleterious probability by iFish2 | 0.9612 (Deleterious) |
| Deleterious probability by DeFine | 0.9524 (Deleterious) |
| Entrez Gene ID | 1499 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CTNNB1 (GeneCards) |
| Number of variants in CTNNB1 in this database | 2 (view all the variants) |
| Full name | catenin beta 1 |
| Band | 3p22.1 |
| Other IDs | Vega: OTTHUMG00000131393 OMIM: 116806 HGNC: HGNC:2514 Ensembl: ENSG00000168036 |
| Other names | EVR7, CTNNB, MRD19, armadillo |
| Summary | The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016] |
| Individual ID | 28867142.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |