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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
UBE2L3 ENST00000458578 0.26 25.58 10.49 4.47 1.25 2.18 0.17 1.05 0.43
H3F3B ENST00000254810 0.27 28.95 12.17 4.47 1.15 2.29 0.17 1.31 0.49
CAMK2A ENST00000398376 0.27 9.48 2.48 4.46 2.48 4.03 0.17 0.49 0.23
GRIA2 ENST00000296526 0.28 8.95 2.33 4.46 2.44 4.02 0.17 0.47 0.22
SMARCE1 ENST00000348513 0.28 5.40 1.06 4.46 3.06 4.43 0.17 0.33 0.21
ZNF706 ENST00000520347 0.29 38.24 17.11 4.45 0.76 1.64 0.17 1.70 0.73
SRF ENST00000265354 0.29 12.56 3.77 4.45 2.09 3.78 0.17 0.58 0.24
TUBB2B ENST00000259818 0.30 7.28 1.70 4.44 2.58 4.25 0.17 0.37 0.23
FOXG1 ENST00000382535 0.30 13.88 4.36 4.44 2.05 3.73 0.17 0.60 0.24
PSMC1 ENST00000261303 0.31 2.44 0.28 4.43 3.59 4.86 0.17 0.29 0.18
TBR1 ENST00000389554 0.32 6.34 1.36 4.43 2.69 4.32 0.17 0.37 0.23
NEDD8 ENST00000250495 0.32 23.11 9.13 4.43 1.47 2.35 0.17 0.91 0.38
GABRA1 ENST00000428797 1.24 11.67 3.81 4.42 2.10 3.78 0.17 0.57 0.24
BATF ENST00000286639 0.33 22.39 8.70 4.42 1.51 2.51 0.17 0.82 0.37
PCGF1 ENST00000233630 1.24 4.14 0.99 4.42 3.26 4.46 0.17 0.32 0.21
POLR2A ENST00000322644 0.33 3.52 0.55 4.42 3.39 4.72 0.17 0.29 0.17
PHYHIP ENST00000454243 1.25 22.44 9.30 4.42 1.52 2.32 0.17 0.82 0.38
GRIN1 ENST00000371553 0.36 12.09 3.61 4.42 2.06 3.84 0.16 0.57 0.23
RAP1B ENST00000250559 0.34 17.63 6.30 4.41 1.58 3.13 0.17 0.73 0.32
TUBB4B ENST00000340384 0.48 20.61 7.88 4.41 1.46 2.63 0.17 0.76 0.35
ARF5 ENST00000000233 1.26 14.93 5.39 4.41 1.94 3.50 0.17 0.63 0.25
EIF4A2 ENST00000323963 0.37 6.31 1.37 4.41 2.69 4.33 0.16 0.36 0.23
COPS4 ENST00000264389 1.12 5.37 1.29 4.41 3.06 4.37 0.18 0.32 0.21
SENP3 ENST00000429205 0.34 14.09 4.50 4.41 2.07 3.70 0.17 0.59 0.25
SCN2A ENST00000357398 1.26 2.31 0.51 4.41 3.64 4.71 0.17 0.29 0.17

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