Structural Variant Effects on Protein Function — Hands-on

Learn how to interpret structural variants (SVs) and complex genomic alterations at the protein level. From mapping breakpoints to transcripts and domains through modeling impacted proteins and assessing effects on stability, interfaces and regulation, you will build workflows that turn SV calls into mechanistic hypotheses for disease, drug response and engineering studies.

Structural Variant Effects on Protein Function

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Session Index

Session 1 — Structural Variants, Transcripts & Proteins Session 2 — Mapping SVs to Domains, Motifs & Models Session 3 — Impact on Stability, Interfaces & Regulation Session 4 — Workflows, Visualisation & Reporting

Session 1

Fee: Rs 12320

Structural Variants, Transcripts & Proteins

SV classes and annotation basics

deletions, duplications, inversions, translocations copy number and complex rearrangements VCF fields and breakpoint descriptions (concepts)

From genome breakpoints to transcripts

gene models, exons and isoform choice ideas frame preserving vs frame shifting events truncations, fusions and internal deletions

Protein level consequence categories

loss of domains or motifs gain of novel junction sequences reading frame and stop codon changes

Session 2

Fee: Rs 16520

Mapping SVs to Domains, Motifs & Models

Domain and motif level mapping

mapping altered regions to Pfam and InterPro signal peptides, transmembrane segments and repeats loss or gain of regulatory motifs concepts

Working with experimental and predicted structures

locating affected residues in PDB or AlphaFold models building simple models for truncated isoforms handling low confidence and disordered segments

Fusion proteins and chimeric architectures

drawing domain cartoons for fusions orientation and linker region awareness examples from kinases and transcription factors ideas

Session 3

Fee: Rs 20720

Impact on Stability, Interfaces & Regulation

Stability and folding consequences

removal of cores vs peripheral elements exposed hydrophobics and aggregation risk simple stability scoring views (concepts)

Interfaces, complexes and network context

checking if SVs hit interaction surfaces gain or loss of oligomerisation interfaces placing SV effects on interaction networks

Regulatory elements, PTMs and localisation

creation or loss of PTM sites concepts nuclear localisation, export and targeting signals auto inhibition and activation segment hits

Session 4

Fee: Rs 26320

Workflows, Visualisation & Reporting

End to end SV to protein impact workflows

from VCF and annotation to ranked SV events combining domain, structure and network views tiered prioritisation for follow up studies

Visualisation of structural impacts

domain cartoons and lollipop plots 3D snapshots highlighting altered regions network and pathway overlays for SV events

Figures, tables and documentation for teams

SV event tables with structural summaries clear mechanistic hypotheses and caveats checklists for reproducible SV interpretation

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Structural Variant Effects on Protein Function Training | Domains, Fusions & Mechanistic Impact

Structural Variant Effects on Protein Function — Hands-on