Genomics Flashcards
How many coding genes are there?
20,499
How many non-coding genes are there?
23,992
How many short variants are there ?
678 million
How many structural variants are there?
6 million
percentage of the protein coding genes?
1.2%
Recombination is higher in -
Females
Point Mutations are higher in meiosis in -
Males
Percentage of repeats
46%
how many human genes originate from bacteria by HGT ?
145
percentage of genome originating from retroviruses?
8%
More than the coding 1.2%
Largest gene
DMD - Dystrophin
Longest coding sequence
TTN - Titin
Longest exon
TTN - Titin
Gene richest chromosome
19
Gene Poorest chromosome
Y
also poor are 13, 18 - trisomy leads to patao and edwards
Genes derived from common ancestral genes and have diverged from the parent copy by mutation and selection or drift -
Paralogous Genes
Genes with same function in different species -
Ortologous Genes
Dysfunctional relatives of genes that have lost their protein coding ability
Pseudogenes
Pseudogenes can regulate gene expression by means of:
decreasing the mRNA stability, SiRNA or competitiveness.
CpG Islands occurs when in a 200 bp region the n observed-to-expected CpG ratio is greater than __%.
CpG Islands occurs when in a 200 bp region the n observed-to-expected CpG ratio is greater than 60%.
In terminaly differentiated cells up to 90% of genome CpG sites are -
methylated
How many imprinted genes are there ?
> 100
Difference between two genomes ?
0.5%
Genetic diversity is higher in _____ than in europe.
Africa
Every person carries mutations that inactivate at least 1 copy of ___ genes and both copy of __ genes.
Every person carries mutations that inactivate at least 1 copy of 200 genes and both copy of 20 genes.
Beneficial to knockout genes (2 EXAMPLES)
CCR5 - chemokine receptors
FUT2 - required for norovirus infection
knockout genes in human increase the risk of genetic diseases in -
consanguineous marriages
Functional elements in the genome:
- Protein coding
- RNA coding
- Promoter regions
- Enhancer Regions
- Long range chromatin interactions
- Methylated areas
- Histone modification
essential precentage of the functioning genome?
9%
In obesity the strongest association is in ____ 1 and 2 of FTO gene - leading to regulation of _____
In obesity the strongest association is in Introns 1 and 2 of FTO gene - leading to regulation of IRX3/5
Piwi-interacting RNA (piRNA)
post transcriptional silencing of transposons
Transcription in mammals is -
Discontinuous
why many of the genes show Monoallelic expression? (MAE happens in 15% of genes)
Heterozygous advantage - reduce susceptibility for infections
