| Variant ID | 23867 |
|---|---|
| Entrez Gene ID | 1009 |
| Gene | CDH11 (GeneCards) |
| Location | hg19 16:65113752-65113752
hg38 16:65079849-65079849 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000016.9:g.65113752 C>T (Genome Assembly: GRCh37) |
| 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2176 |
| CADD Raw score (version 1.3) | 0.426757 (Deleterious) |
| FATHMM raw prediction score | 0.17019 (Tolerated) |
| Deleterious probability by DeFine | 0.6336 (Deleterious) |
| Entrez Gene ID | 1009 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDH11 (GeneCards) |
| Number of variants in CDH11 in this database | 3 (view all the variants) |
| Full name | cadherin 11 |
| Band | 16q21 |
| Other IDs | Vega: OTTHUMG00000137494 OMIM: 600023 HGNC: HGNC:1750 Ensembl: ENSG00000140937 |
| Other names | OB, ESWS, CAD11, CDHOB, OSF-4 |
| Summary | This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Expression of this particular cadherin in osteoblastic cell lines, and its upregulation during differentiation, suggests a specific function in bone development and maintenance. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |