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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
PNLDC1 ENST00000610273 42.77 53.33 46.77 0.78 0.66 0.67 1.77 1.71 1.87
PILRB ENST00000610247 97.15 73.95 88.68 0.10 0.53 0.20 0.11 1.02 0.28
RNASE11 ENST00000610205 84.50 99.72 94.91 0.30 0.17 0.09 0.46 0.11 0.11
RPAP2 ENST00000610020 44.03 42.08 41.29 0.73 0.61 0.75 1.78 1.85 2.02
AC005358.1 ENST00000609971 28.79 10.42 17.47 1.13 2.23 1.62 1.53 0.50 0.75
SLC25A16 ENST00000609923 62.01 58.93 61.07 0.70 0.52 0.43 1.28 1.43 1.53
HOXC4 ENST00000609810 34.95 42.15 36.74 0.92 0.61 0.82 1.85 1.87 1.94
UGT1A1 ENST00000609767 71.15 73.33 75.16 0.42 0.54 0.38 0.86 1.02 0.67
KCNJ6 ENST00000609713 1.07 19.50 7.63 4.40 1.46 2.72 0.18 0.74 0.33
GRIN2B ENST00000609686 0.49 0.23 0.02 4.40 4.11 4.89 0.18 0.28 0.15
AC006435.1 ENST00000609667 87.75 96.61 94.93 0.23 0.23 0.09 0.37 0.20 0.11
PAGR1 ENST00000609618 40.58 27.33 32.16 0.86 1.27 0.91 1.75 1.16 1.59
GPRIN3 ENST00000609438 83.81 78.02 84.20 0.29 0.42 0.34 0.49 0.77 0.42
FPGT ENST00000609362 56.48 71.04 65.22 0.58 0.49 0.53 1.65 1.07 1.31
BHLHA15 ENST00000609256 93.61 91.66 95.48 0.13 0.24 0.08 0.13 0.32 0.11
FNDC5 ENST00000609187 35.29 43.70 37.73 0.92 0.62 0.84 1.85 1.96 2.01
ZBTB8B ENST00000609129 34.94 47.64 39.64 0.94 0.61 0.80 1.85 1.97 2.05
SYT6 ENST00000609117 42.82 44.99 42.18 0.78 0.68 0.68 1.78 1.97 2.01
PPP1R12B ENST00000608999 43.27 24.00 31.83 0.81 1.38 0.91 1.80 0.96 1.58
PPM1K ENST00000608933 25.80 56.94 39.73 1.34 0.56 0.78 1.21 1.53 2.02
FBXW2 ENST00000608872 6.90 3.46 2.66 2.91 3.40 4.02 0.37 0.29 0.23
ZNF8 ENST00000608843 47.69 37.52 40.75 0.53 0.78 0.81 1.80 1.66 2.04
GPATCH11 ENST00000608836 72.90 61.69 69.45 0.32 0.56 0.44 0.78 1.39 0.98
NAA60 ENST00000608722 24.16 33.19 26.84 1.34 0.82 0.97 1.12 1.50 1.27
FKBP8 ENST00000608443 23.74 3.49 11.28 1.35 3.39 2.16 1.12 0.29 0.45

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