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+ UCSC Genome Browser · Tutorial 5
+ Teaching with the Browser
+ Ready-made, interactive modules for the classroom
+ ~20 free modules on the Education portal · genome.ucsc.edu
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+ The Education portal
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+ genome.ucsc.edu/training/education : ~20 interactive modules + videos.
+ Self-contained, undergraduate-level, each built on clickable Browser sessions.
+ Topics: codons & reading frames, the Variants curriculum , splicing, CpG/methylation, CRISPR, Huntington’s, lactase, FOXP2…
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Can be used as part of a lecture or assignments.
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+ “Educating with the Genome Browser”: a free library of classroom-ready modules and tutorial videos.
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+ Open the portal and scroll the list so they see the breadth. Each module is classroom-ready: built around clickable sessions, no install for students.
+ Many here teach undergrad genetics/cancer: these are free, vetted teaching assets.
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+ Reading the gene
+ the central dogma, made visible
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+ Reading the gene, base by base
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+ 5′ → 3′ direction — which way a gene is transcribed open
+ Start & stop codons — the signals that begin and end translation open
+ Three reading frames — how one sequence can be read three ways open
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+ Same recipe Each module is a clickable session + a short page , ready to drop into a lecture or assignment.
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+ Another module: the “Wobble Base” module
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+ Teaches codon degeneracy : the 3rd base of a codon can change without changing the amino acid (“wobble”).
+ Example: the GRK4 kinase domain (hg19), codons & amino acids drawn over the sequence.
+ Read it down the 100-vertebrate alignment : the amino acid (V, K, A…) is identical across species even where the wobble base differs, and PhyloP shows those residues are conserved.
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Same recipe
+ Another session + a page : the portal has ~20 like this.
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+ The GRK4 kinase domain (hg19): codons + amino acids, PhyloP conservation, and a 100-vertebrate alignment, the protein is conserved while the wobble (3rd) base varies.
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+ A second education-portal module, paired with the missense one. It makes the synonymous / silent-mutation point concrete: open the GRK4 kinase-domain session, read the amino-acid row, then scan down the Multiz 100-vertebrate alignment, the amino acid (e.g. valine, lysine, alanine) is the same across species even though the third codon base differs. PhyloP conservation (high = functionally critical) reinforces that these residues matter while the wobble position tolerates change. Reinforces codons/reading-frame and conservation from the basics. Source: genome.ucsc.edu/training/education/wobble.html.
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+ Variants and their effects
+ what a change does to the protein
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+ Variants and their effects
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+ Synonymous — a base change that leaves the amino acid unchanged open
+ Nonsense — a change that creates a premature stop codon open
+ Frameshift — an insertion or deletion that shifts the reading frame open
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+ Same recipe Each module is a clickable session + a short page , ready to drop into a lecture or assignment.
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+ Spotlight: the “Missense Variants” module
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+ The Missense Variants module teaches a missense variant on the cancer gene BRCA2 (rs135936718 , His→Gln).
+ Students click a shared link ; dbSNP colours green = synonymous, red = missense.
+ A nice sum-up of the basics : it reuses the gene model, codons & amino acids, and clicking a variant.
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The takeaway
+ A module is just a saved view + a web page . You’ll learn to build your own in the Sessions section of Tutorial 1.
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+ The module’s session at BRCA2 : codons & amino acids over the sequence, with dbSNP variants coloured red = missense / green = synonymous .
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+ Walk the module live: open the BRCA2 missense session, point out the dbSNP colour key (green synonymous / red missense), the codon change His→Gln, and the ClinVar call.
+ Use this to wrap up the navigation/tracks basics; it reuses the gene model, codons and clicking-a-variant they just practised. Forward pointers (don't dwell): BRAF V600E, coming up in the oncology section, is itself a missense variant; and a module is just a session + a page, so they'll be able to author their own once you save a session in Tutorial 1.
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+ Splicing & isoforms
+ one gene, many mRNAs
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+ Bonus module: the “Splicing” module if time
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+ The Splicing module teaches alternative splicing : different exon combinations make distinct mRNA isoforms.
+ Example: FGFR2 (hg19), with exons included or skipped across its GENCODE isoforms.
+ The Spliced ESTs (expressed sequence tags) and alternative splicing tracks show which exons each transcript version includes or skips.
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Same recipe
+ Another session + a page, one of ~20 ready-made modules.
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+ FGFR2 (hg19): GENCODE isoforms include or skip the highlighted exons, the essence of alternative splicing.
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+ Optional third education module on alternative splicing (FGFR2, hg19). Cover it only if running ahead; otherwise skip. Open s/education/fgfr2_highlights: the two highlighted exons are alternatively included or skipped across FGFR2's GENCODE isoforms, and the Spliced ESTs / SIB alt-splicing tracks show real transcripts with different exon combinations. Ties back to the gene-model and exon/intron basics. Source: genome.ucsc.edu/training/education/splicing.html.
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+ Isoforms and tissues
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+ Isoforms across tissues — tissue-dependent alternative splicing open
+ Tissue-specific expression — where a gene is switched on (the PLP gene) open
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+ Same recipe Each module is a clickable session + a short page , ready to drop into a lecture or assignment.
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+ Spotlight: tissue-specific expression
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+ The GTEx track shows how strongly a gene is expressed across 54 human tissues — one coloured bar per tissue.
+ Example: PLP1 , a myelin gene, is switched on almost only in the brain (the tall yellow bars).
+ A quick, visual way to ask “where is this gene active?”
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Same recipe
+ Another session + a page, one of ~20 ready-made modules.
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+ PLP1 GTEx expression: each bar is a tissue; the tall yellow bars are brain, where this myelin gene is active.
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+ A tissue-expression spotlight to pair with the isoforms menu. Open PLP1 with the GTEx track: the colour-coded bars show expression per tissue, and PLP1 (a myelin protein) lights up almost only in brain. Makes "tissue-specific expression" concrete and visual. Same module recipe as the others: a saved view plus a short page.
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+ Regulation & epigenetics
+ beyond the coding sequence
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+ Regulation & epigenetics
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+ CpG islands & methylation — DNA methylation and epigenetic regulation open
+ CRISPR — gene editing, explored in the Browser open
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+ Same recipe Each module is a clickable session + a short page , ready to drop into a lecture or assignment.
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+ Disease & evolution case studies
+ genetics with a story
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+ Case studies: disease
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+ Huntington’s & CAG repeats — a trinucleotide-repeat expansion in HTT open
+ Lactase persistence (LCT) — the genetics of digesting milk open
+ Alcohol intolerance — variation in alcohol metabolism in East Asians open
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+ Same recipe Each module is a clickable session + a short page , ready to drop into a lecture or assignment.
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+ Case studies: evolution
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+ FOXP2 & the evolution of speech — comparing a speech gene across species open
+ Why apes have no tails — an evolutionary loss, seen in the genome open
+ Ebola & Marburg conservation — conserved regions of viral genomes open
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+ Same recipe Each module is a clickable session + a short page , ready to drop into a lecture or assignment.
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+ Spotlight: why apes have no tails
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+ An Alu insertion (a “jumping-gene” element) landed inside the tail-development gene TBXT in the common ancestor of apes.
+ It makes an exon get skipped , altering the protein — linked to the loss of the tail.
+ The RepeatMasker track marks the Alu (highlighted); the GENCODE isoforms show the affected exon.
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Same recipe
+ Another session + a page, one of ~20 ready-made modules.
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+ TBXT (hg19): the highlighted Alu element (a RepeatMasker SINE) sits inside the gene — tied to tail loss in apes.
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+ An evolution spotlight to pair with the case-studies menu. Based on the 2021 finding that an AluY insertion in TBXT causes exon skipping and is associated with tail loss in apes/humans. Open the session: the highlight marks the Alu (RepeatMasker SINE) within TBXT, and the GENCODE isoforms show the exon it affects. Ties conservation, repeats and gene models together.
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+ Bringing it into the classroom
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+ Around 20 self-contained modules , each built on a clickable Browser session.
+ They span the central dogma (reading frames, codons, splicing), variant effects , and real disease & evolution case studies.
+ Use them as lecture demos or student assignments — no install required.
+ Build your own the same way: save a session (see Tutorial 1) and wrap it in a page.
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+ Thank you!
+ Questions? · genome@soe.ucsc.edu
+ UCSC Genome Browser · genome.ucsc.edu
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