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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
FAM90A26 ENST00000512047 91.47 93.71 95.18 0.15 0.28 0.08 0.20 0.26 0.10
FAM182B ENST00000376403 93.75 94.23 96.82 0.11 0.25 0.08 0.13 0.25 0.07
DEFB130 ENST00000437818 91.04 93.38 95.19 0.16 0.28 0.08 0.21 0.28 0.10
GOLGA8O ENST00000509311 94.40 93.62 96.82 0.10 0.28 0.08 0.11 0.28 0.07
FCRL6 ENST00000368106 95.57 89.32 95.19 0.11 0.27 0.08 0.11 0.37 0.10
DNAH10OS ENST00000514254 93.28 94.50 96.83 0.15 0.23 0.08 0.15 0.24 0.07
C1orf134 ENST00000375605 93.79 93.77 95.20 0.11 0.27 0.08 0.13 0.26 0.10
AP005482.1 ENST00000400514 93.04 94.72 96.83 0.15 0.23 0.08 0.15 0.24 0.07
CLLU1 ENST00000378485 94.49 90.39 95.20 0.10 0.25 0.08 0.11 0.37 0.10
SSX5 ENST00000311798 96.33 91.74 96.84 0.12 0.24 0.08 0.11 0.32 0.07
C12orf36 ENST00000318426 95.05 89.86 95.21 0.10 0.27 0.08 0.12 0.37 0.10
RP11-315O6.2 ENST00000529278 90.04 97.75 96.84 0.16 0.21 0.08 0.26 0.17 0.07
AC090616.2 ENST00000398832 92.73 91.91 95.21 0.15 0.23 0.08 0.17 0.32 0.10
CGB8 ENST00000448456 89.40 95.56 95.22 0.16 0.23 0.08 0.32 0.21 0.10
FKSG52 ENST00000412930 90.06 97.76 96.85 0.16 0.21 0.08 0.26 0.17 0.07
TMEM238 ENST00000444469 91.22 93.27 95.22 0.15 0.28 0.08 0.21 0.30 0.10
RP11-410N8.4 ENST00000375670 91.54 94.38 96.85 0.15 0.23 0.08 0.21 0.24 0.07
BLOC1S3 ENST00000433642 91.01 94.90 95.23 0.16 0.23 0.08 0.21 0.23 0.10
CRYGN ENST00000337323 95.74 92.36 96.86 0.11 0.25 0.08 0.12 0.30 0.07
TMEM221 ENST00000341130 93.42 92.10 95.23 0.13 0.24 0.08 0.15 0.32 0.10
APOC4 ENST00000419266 95.12 92.98 96.86 0.10 0.28 0.08 0.12 0.30 0.07
KRTAP12-3 ENST00000397907 85.34 99.91 95.24 0.28 0.17 0.08 0.47 0.10 0.10
AP003733.1 ENST00000601917 90.07 97.76 96.87 0.16 0.21 0.08 0.26 0.17 0.07
C5orf60 ENST00000448248 99.95 85.06 95.24 0.10 0.25 0.08 0.14 0.45 0.10
OR5D16 ENST00000378396 86.54 98.27 95.25 0.25 0.21 0.08 0.41 0.15 0.10

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