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Genes Fold Enrichment Color Codes
  • Gene Name, Canonical Transcript - gene identifiers from gnomAD database (Build 37)
  • GeVIR % - gene rank measured in percentiles based on Gene Variation Intolerance Ranking (GeVIR) (low values indicate more variation intolerant genes, which is also true for "LOEUF %" and "VIRLoF %"). GeVIR is a method which we developed and applied on a list of 19,361 genes to sort them based on number, length and evolutionary conservation of regions without functional variants (i.e. between two missense, loss-of-function, insertion or delition variants) in gnomAD database (version 2.0.1). Only canonical transcripts were analysed.
  • LOEUF % - gene rank measured in percentiles based gnomAD loss-of-function observed/expected upper bound fraction (LOEUF) (see Figure 1). For more information about this metric, please read "Constraint" section of MacArthur Lab blog post. If you use this metric please cite gnomAD flagship paper and use most up-to-date values from gnomAD website.

    LoF observed/expected (o/e) upper Confidence Interval (CI)

    Figure 1. Screenshot of ELN gene constraint metrics from gnomAD browser

  • VIRLoF % - gene rank measured in percentiles based on both GeVIR and gnomAD LOEUF (shows the best overall performance, see Figure 2). If you use this metric please cite both GeVIR and gnomAD flagship paper.
  • GeVIR AD, LOEUF AD, VIRLoF AD, GeVIR AR, LOEUF AR, VIRLoF AR - to help users interpret gene ranks, we calculated fold enrichment of Autosomal Dominant (AD) and Autosomal Recessive (AR) genes with known molecular basis of disorder in OMIM in a range of +-5% of gene X (see Figure 2). Statistical significant fold enrichements (Fisher Exact Test p-value < 1e-5) are shown in bold in the table. For example CDK19 gene's GeVIR % is 2.37, so examined range is from 0 (2.37-5, rounded to minimal percentile) to 7.37% (2.37+5). Genes in this range are ~4 times more often (4.05 fold enrichement) associated with AD diseases and ~4 times less often (0.25 fold enrichement) associated with AR diseases. Both enrichment of AD genes and deficiency of AR genes is statistical significant. Thus GeVIR metric adds supportive evidence that CDK19 is more likely to be associated with AD than AR disease.

    Gene Percentiles AD AR Fold Enrichment

    Figure 2. Fold Enrichment of known Autosomal Dominant (AD) and Autosomal Recessive (AR) genes of each gene in the ranked lists (GeVIR, LOEUF, VIRLoF. AD genes are enriched among top ranked genes (lowest percentiles), whereas AR genes are enriched among middle ranked genes (approximetly 35-65 percentiles). Combined metric (VIRLoF, purple) shows the best perfornance, i.e. high ranked genes are more often associated with AD than AR diseases, low ranked genes are less often associated with both AD and AR diseases.
Gene Name Canonical Transcript GeVIR % LOEUF % VIRLoF % GeVIR AD LOEUF AD VIRLoF AD GeVIR AR LOEUF AR VIRLoF AR
MBD3L1 ENST00000595891 80.24 99.48 92.10 0.32 0.16 0.14 0.58 0.13 0.16
IFNA5 ENST00000259555 97.84 99.48 99.78 0.11 0.16 0.12 0.11 0.13 0.04
MTRNR2L3 ENST00000543500 93.31 99.47 98.66 0.15 0.16 0.10 0.15 0.13 0.05
DKFZP434O1614 ENST00000554299 93.30 99.47 97.32 0.15 0.16 0.08 0.15 0.13 0.07
C1orf229 ENST00000408893 93.26 99.46 97.28 0.15 0.16 0.08 0.15 0.13 0.07
POM121L12 ENST00000408890 98.02 99.46 99.81 0.11 0.16 0.12 0.11 0.13 0.04
C3orf36 ENST00000408895 98.15 99.45 99.84 0.11 0.16 0.12 0.11 0.12 0.04
TIAF1 ENST00000359450 81.66 99.45 93.30 0.32 0.16 0.13 0.60 0.12 0.15
EDDM3A ENST00000326842 86.76 99.44 95.88 0.24 0.16 0.07 0.40 0.12 0.11
C11orf72 ENST00000333139 99.92 99.44 99.89 0.10 0.16 0.12 0.14 0.12 0.04
TMEM14E ENST00000408960 96.15 99.43 99.40 0.11 0.16 0.11 0.11 0.12 0.05
AC023632.1 ENST00000391679 93.23 99.43 98.65 0.15 0.16 0.10 0.15 0.12 0.05
FAM218A ENST00000513876 96.46 99.42 99.49 0.10 0.16 0.11 0.11 0.12 0.05
C9orf38 ENST00000355513 93.21 99.42 98.54 0.15 0.16 0.10 0.16 0.12 0.05
MTRNR2L6 ENST00000604952 93.19 99.41 98.10 0.15 0.16 0.09 0.16 0.12 0.05
KRTAP25-1 ENST00000416044 93.14 99.41 98.08 0.15 0.16 0.09 0.16 0.12 0.05
FAM27E1 ENST00000377525 93.13 99.40 98.62 0.15 0.16 0.10 0.16 0.12 0.05
NPAP1 ENST00000329468 99.37 99.40 99.88 0.11 0.16 0.12 0.12 0.12 0.04
TGIF2LY ENST00000321217 94.64 99.39 99.07 0.10 0.16 0.11 0.11 0.12 0.04
AC006372.1 ENST00000444154 93.10 99.39 98.34 0.15 0.16 0.09 0.16 0.12 0.05
IFNB1 ENST00000380232 87.86 99.38 96.44 0.23 0.16 0.07 0.36 0.12 0.09
CTAGE6 ENST00000470691 84.62 99.38 94.77 0.29 0.16 0.09 0.46 0.12 0.11
VN1R2 ENST00000341702 96.21 99.37 99.41 0.12 0.16 0.11 0.11 0.12 0.05
IFNA7 ENST00000239347 95.44 99.36 98.85 0.11 0.16 0.10 0.11 0.12 0.05
PTTG2 ENST00000504686 94.32 99.36 98.91 0.10 0.16 0.10 0.11 0.12 0.04

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