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journALS is funded by Science Foundation Ireland and FutureNeuro
This work was supported by TCHPC (Research IT, Trinity College Dublin)
This website is currently under development and Beta testing
Select Gene of Interest:
Select Variant of Interest:
Filter Search To Variants Present In:
Choose
Literature
ALSdb
ALSVS_FAMILIAL
ProjectMinE
Variants to Include:
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Pathogenic
Likely Pathogenic
VUS
Likely Benign
Benign
Pathogenicity
Phenotype Information
Geographic Heterogeneity
Age of Onset
Pedigrees
Select Columns To Display
Choose
HGVS
identifier
Nationality
Ethnicity
Ethnicity: Explanation
Primary Phenotype
Detailed Phenotype
Family History
Sex
Age of Onset
Disease Duration
Onset Site
Zygosity
Cognitive Impairment (Y/N)
de novo
de novo: confirmed parentage
Concurrent Variants
PMID
Comments
Pedigree ID
Continent
Population:
Continent Comparison
Asia
Australasia
Europe
Middle East
North America
South America
Africa
Phenotype:
ALS
FTD
Family History:
Familial
Sporadic
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Phenotype:
All
ALS
FTD
Comparison
Phenotype:
All
ALS
FTD
Sex:
All
Male
Female
Comparison
Sex:
All
Male
Female
Family History:
All
Familial
Sporadic
Comparison
Family History:
All
Familial
Sporadic
Plot Type:
Cumulative Distribution
Kernal Density Estimate
Select Pedigree:
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Save Ped File
Country or Continent:
Country
Continent
Global
Select Region of Interest:
Individuals
Analysis
Population Studies
Filter Variants To:
Pathogenic Variants
Pathogenic or Likely Pathogenic Variants
Reported Variants in Pathogenic or Likely Pathogenic Genes
Phenotype:
ALS
FTD
Family History:
Familial
Sporadic
Overall
Estimated Proportion of Cases which are Familial:
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Select Gene of Interest:
Comparison Plot
Gene Plot
Variant Table
X Axis:
Overall Allele Frequency (Literature)
Familial ALS Case Frequency (%) (Literature)
Sporadic ALS Case Frequency (%) (Literature)
Familial FTD Case Frequency (%) (Literature)
Sporadic FTD Case Frequency (%) (Literature)
gnomAD Allele Frequency
Project MinE Case Allele Frequency
Project MinE Control Allele Frequency
ALSdb Allele Frequency
ALSVS Famlial Allele Frequency
ALS Lifetime Penetrance (Population)
FTD Lifetime Penetrance (Population)
ALS & FTD Combined Lifetime Penetrance (Population)
ALS Lifetime Penetrance (Familial)
Adjusted CADD Score
Proportion of Cases with Positive Family History
Y Axis:
Overall Allele Frequency (Literature)
Familial ALS Case Frequency (%) (Literature)
Sporadic ALS Case Frequency (%) (Literature)
Familial FTD Case Frequency (%) (Literature)
Sporadic FTD Case Frequency (%) (Literature)
gnomAD Allele Frequency
Project MinE Case Allele Frequency
Project MinE Control Allele Frequency
ALSdb Allele Frequency
ALSVS Famlial Allele Frequency
ALS Lifetime Penetrance (Population)
FTD Lifetime Penetrance (Population)
ALS & FTD Combined Lifetime Penetrance (Population)
ALS Lifetime Penetrance (Familial)
Adjusted CADD Score
Proportion of Cases with Positive Family History
Colour by:
Penetrance
Familial Proportion
Adjusted CADD Score
Highlight Variant:
Variants to Include:
Pathogenic
Likely Pathogenic
Variant of Uncertain Significance
Likely Benign
Benign
Display Regression Line
Allele Frequency Range:
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Filter Display To Variants Present In:
Literature
ALSdb
ALSVS_FAMILIAL
ProjectMinE
Display Introns
Select Transcript:
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Select Columns To Display
Choose
HGVS
identifier
impact
familial_count
sporadic_count
ProjectMinE_AC_cases
ProjectMinE_Alleles_cases
ProjectMinE_AF_cases
gnomAD_non_neuro_use_AC
gnomAD_non_neuro_use_AN
gnomAD_non_neuro_use_AF
ALSVS_FALS_AC
ALSVS_FALS_AN
ALSVS_FALS_AF
ALSdb_Allele_Count
ALSdb_AN
ALSdb_AF
population_carriers_count
lit_review_AN
lit_review_AF
gene
cadd_scaled
all_carriers_count
all_carriers_pmid
all_carriers_aoo
all_carriers_disease_duration
all_carriers_primary_phenotype
all_carriers_detailed_phenotype
all_carriers_denovo
all_carriers_denovo_confirmed
all_carriers_nationality
all_carriers_ethnicity
all_carriers_ethnicity_explanation
all_carriers_sex
all_carriers_onset_site
all_carriers_onset_site_explanation
all_carriers_family_history
all_carriers_cognitive_impairment
all_carriers_zygosity
all_carriers_concurrent_variants
all_carriers_pedigree
all_carriers_comment
population_carriers_nationality
population_carriers_continent
population_carriers_family_history
population_carriers_zygosity
ProjectMinE_AF_all
ProjectMinE_AF_controls
ProjectMinE_Alleles_all
ProjectMinE_Alleles_controls
ProjectMinE_allHOM_A1_PARTICIPANTS
ProjectMinE_allHET_PARTICIPANTS
ProjectMinE_allHOM_A2_PARTICIPANTS
ProjectMinE_allMISSING_PARTICIPANTS
ProjectMinE_allTOTAL_PARTICIPANTS
ProjectMinE_casesHOM_A1_PARTICIPANTS
ProjectMinE_casesHET_PARTICIPANTS
ProjectMinE_casesHOM_A2_PARTICIPANTS
ProjectMinE_casesMISSING_PARTICIPANTS
ProjectMinE_casesTOTAL_PARTICIPANTS
ProjectMinE_controlsHOM_A1_PARTICIPANTS
ProjectMinE_controlsHET_PARTICIPANTS
ProjectMinE_controlsHOM_A2_PARTICIPANTS
ProjectMinE_controlsMISSING_PARTICIPANTS
ProjectMinE_controlsTOTAL_PARTICIPANTS
ALSVS_FALS_het
ALSVS_FALS_homAlt
ALSVS_FALS_homRef
ALSdb_Sample_Count
ALSdb_Hom_Count
ALSdb_Heteroz_Count
ALSdb_Ref_Count
gnomAD_genomes_controls_AC
gnomAD_genomes_controls_AN
gnomAD_exomes_controls_AC
gnomAD_exomes_controls_AN
gnomAD_exomes_controls_use_AC
gnomAD_genomes_controls_use_AC
gnomAD_exomes_controls_use_AN
gnomAD_genomes_controls_use_AN
population_carriers_HOM_cases
population_carriers_HET_cases
all_carriers_HOM_cases
all_carriers_HET_cases
ProjectMinE_AC_controls
lit_review_pen_ALS_penetrance
lit_review_pen_ALS_penetrance.lower
lit_review_pen_ALS_penetrance.upper
ALSdb_pen_point
ALSdb_lower
ALSdb_upper
ALSVS_FALS_pen_point
ALSVS_FALS_lower
ALSVS_FALS_upper
ProjectMinE_pen_point
ProjectMinE_lower
ProjectMinE_upper
familial_proportion
familial_proportion_lower
familial_proportion_upper
all_carriers.HOM.cases
all_carriers.HET.cases
acmg_literal
Select Variant Type
Choose
3_prime_UTR_variant
5_prime_UTR_variant
bidirectional_gene_fusion
conservative_inframe_deletion
conservative_inframe_insertion
disruptive_inframe_deletion
disruptive_inframe_insertion
downstream_gene_variant
exon_loss_variant
frameshift_variant
gene_fusion
initiator_codon_variant
intron_variant
missense_variant
non_coding_transcript_exon_variant
splice_acceptor_variant
splice_donor_variant
splice_region_variant
start_lost
stop_gained
stop_lost
stop_retained_variant
structural_interaction_variant
synonymous_variant
upstream_gene_variant
Other
Must Be Present In:
Choose
Literature
ALSdb
ALSVS_FAMILIAL
ProjectMinE
Choose identifier.txt file
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