See
Genome Information for Homo sapiens
The ~80% of individuals with classic familial adenomatous polyposis (FAP) have detectable mutations in the coding sequence of the adenomatous polyposis coli (APC) gene. To investigate the 20% of families without detectable causative mutations, we used exome sequencing and second-generation sequencing of the APC locus including non-coding regions. We identified a novel ~11kb deletion 44kb upstream of APC that was present only in affected individuals of three kindreds. SNP analysis showed that this ~11kb deletion was accompanied by silencing of one of the APC alleles in blood-derived RNA of affected individuals.
| Accession | PRJNA282060; dbGaP: phs000904 |
| Type | Umbrella project (Subtype:Authorized Access) |
| Organism | Homo sapiens[Taxonomy ID: 9606] Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo; Homo sapiens |
| Submission | Registration date: 24-Apr-2015
NIDDK |
| Relevance | Medical |
Project Data:
| Resource Name | Number
of Links |
|---|
| Sequence data |
| SRA Experiments | 8 |
| Other datasets |
| BioSample | 8 |
| Genotype and Phenotype (dbGaP) | 1 |
Homo sapiens encompasses the following sub-project:
| Project Type | Number of Projects |
| Phenotype or Genotype | 1 |
BioProject
accession | Organism | Title |
|---|
| PRJNA282061 | Homo sapiens | Molecular and Family-Based Studies of Gastrointestinal Neoplasia (WASHINGTON UNIVERSITY) |
|