Angelman syndrome
Transcript of Angelman syndrome
• Official name “ubiquitin protein ligase E3A.”
• Ubiquitin protein ligases target other proteins to be broken down (degraded) within cells.
• Removes damaged or unnecessary proteins.
• Critical role in the normal development and function of the nervous system
Gene Introduction
• Mutations in the UBE3A gene.
• Developmental delays
• Lack of or minimal speech
• Inability to walk
• Trembling movement of arms and legs
• Frequent smiling and laughter
• Happy, excitable personality
• (Happy puppets)
Angelman Syndrome
Gene Sequencehttp://www.ncbi.nlm.nih.gov/nuccore/NC_000015.10?report=fa
sta&from=25337245&to=25439043&strand=true
Protein Sequence
• http://www.ncbi.nlm.nih.gov/protein/14424503?report=fasta
http://asia.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000114062;r=15:25582381-25684128;t=ENST00000232165
No. of Transcripts
http://asia.ensembl.org/Homo_sapiens/Transcript/Summary?db=core;g=ENSG00000114062;r=15:25582381-25684128;t=ENST00000232165
6 transcripts
5’ and 3’ UTR
• http://asia.ensembl.org/Homo_sapiens/Transcript/Exons?db=core;g=ENSG00000114062;r=15:25582381-25684128;t=ENST00000232165
5’ UTR Repeats
• http://www.repeatmasker.org/tmp/d693122da91a30c1e327e39f8172c2b7.html
3’UTR Repeats
http://www.repeatmasker.org/tmp/ea4c61183827c7237346323b0e36bce6.html
Repeats
http://www.repeatmasker.org/tmp/ea4c61183827c7237346323b0e36bce6.html
SNPs
• There are 1938 active SNPs in human gene UBE3A
http://www.ncbi.nlm.nih.gov/snp/?term=UBE3A
Phylogenetic Tree
• http://www.genome.jp/tools-bin/clustalwtree?tree_upgma+140521141839eYiuH
UCSC GENE
http://genome.ucsc.edu/cgi-bin/hgPcr?hgsid=376038365_d1AKZAZ4u4FaQEydv3lKpru0h2o4&org=Human&db=hg38&wp_target=hg38Kgv15&wp_f=TGGTGACCAATGAATCTCCC&wp_r=GTATAGCCACCGTCATATTCTGT&Submit=submit&wp_size=4000&wp_perfect=15&wp_good=15&boolshad.wp_flipReverse=0
Genome Assembly
http://genome.ucsc.edu/cgi-bin/hgPcr?wp_target=&db=hg38&org=Human&wp_f=&wp_r=ATCTAGATTCCGGCTTCCACA&wp_size=4000&wp_perfect=15&wp_good=15&wp_showPage=true&hgsid=376038365_d1AKZAZ4u4FaQEydv3lKpru0h2o4