Genes
Genes
20,000 genes in human genome
Protein Coding regions (CDS)
Each person has 2 copies of each gene (maternal and paternal)
Each copy can be one or an other version - ALLELE
Heterozygous - Each copy is a different allele
Combination of all alleles for a gene in the genome - GENOTYPE
Dominant/Recessive
Versions of translated protein
Leads to phenotype effect
Homozygous - both copies are same allele
Regulatory regions - part of gene that regulates the expression of the gene
DNA level
Methylation state
Accessibility of gene
DNA binding proteins - transcription factors, enhancers/silencers, etc.
RNA level
Maturation - splicing variations for a single gene
Stability
Transportation of mRNA to cytoplasm
Protein level
Stability
Initiation of translation
Overlapping gene products
Due to nested ORFs
Overlapping ORFs from different reading frames
Tool to find genomic coordinates of gene of interest in an organism - UCSC genome browser