Published May 2024 | Version v2
Dataset Open

Fine Mapping and Candidate Gene Analysis of Dravet Syndrome Modifier Loci on Mouse Chromosomes 7 and 8

  • 1. ROR icon Northwestern University

Description

Fine Mapping of Dravet Syndrome Modifier Loci on Mouse Chromosomes 7 and 8. 

  1. Hawkins2024_Dsm2_Dsm3_Survival.xlsx - Survival data used for mapping are contained in this workbook.
    1. Contents:
      1. Sheet 1: Dsm2 / Chromosome 7 Survival
        1. Column A: age at event (death or censoring)
        2. Columns B-J: event (1=death; 0=censored) by line
      2. Sheet 2: Dsm3 / Chromosome 8 Survival
        1. Column A: age at event (death or censoring)
        2. Columns B-J: event (1=death; 0=censored) by line
  2. Hawkins2024_Dsm2b_SNPs.csv - C57BL/6J v 129S6/SvEvTac SNPs in Dsm2b (see below for column content)
  3. Hawkins2024_Dsm2b_Indels.csv - C57BL/6J v 129S6/SvEvTac Indels in Dsm2b (see below for column content)
  4. Hawkins2024_Dsm3_SNPs.csv -   C57BL/6J v 129S6/SvEvTac SNPs in Dsm3 (see below for column content)
  5. Hawkins2024_Dsm3_Indels.csv - C57BL/6J v 129S6/SvEvTac Indels in Dsm3 (see below for column content)
  • Column Descriptions for Files 2-5
    • Column A: Chr - Chromosome
    • Column B: Start (m39) - Start position in m39 Genome Assembly
    • Column C: End (m39) - End position in m39 Genome Assembly
    • Column D: Func - variant class
    • Column E: Gene - Gene symbol
    • Column F: Exonic|Biotype - variant type
    • Column G: Transcript - Trancript ID and variant
    • Column H: Codon_Change - the alternative codons with the variant base in upper case
    • Column I: Impact - the impact modifier for the consequence type
    • Column J: dbSNP - dbSNP ID
    • Column K: LOF|NMD - ratio of transcripts with loss of function or nonsense mediated decay
    • Column L: Chr Chromosome
    • Column M: Start (mm10) - Start position in mm10 Genome Assembly
    • Column N: End (mm10) - End position in mm10 Genome Assembly
    • Column O: Ref - Reference base
    • Column P: Obs - Alternate non-reference allele
    • Column Q: Otherinfo - zygosity
    • Column R: isoform - all transcripts

 

Files

Hawkins2024_Dsm2b_Indels.csv

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Additional details

Funding

Genetic Modifiers of Childhood Epilepsy R01 NS084959
National Institute of Neurological Disorders and Stroke