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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
ARF5 ENST00000000233 1.26 14.93 5.39 4.41 1.94 3.50 0.17 0.63 0.25
M6PR ENST00000000412 23.51 39.38 29.61 1.38 0.70 0.85 1.08 1.65 1.39
FKBP4 ENST00000001008 20.26 23.88 20.12 1.53 1.39 1.49 1.00 0.95 0.86
CYP26B1 ENST00000001146 34.48 5.53 17.92 1.00 3.00 1.68 1.80 0.33 0.77
NDUFAF7 ENST00000002125 58.49 81.21 72.52 0.57 0.35 0.46 1.52 0.55 0.83
FUCA2 ENST00000002165 53.33 50.09 50.77 0.62 0.67 0.66 1.75 1.98 1.84
HS3ST1 ENST00000002596 49.24 59.34 53.71 0.57 0.51 0.62 1.80 1.41 1.81
SEMA3F ENST00000002829 23.97 7.06 13.06 1.34 2.57 2.09 1.11 0.37 0.52
CFTR ENST00000003084 59.74 71.60 67.47 0.58 0.53 0.52 1.40 1.07 1.14
CYP51A1 ENST00000003100 46.02 57.23 50.68 0.58 0.56 0.66 1.79 1.49 1.85
USP28 ENST00000003302 35.25 33.84 32.72 0.92 0.85 0.86 1.85 1.56 1.65
SLC7A2 ENST00000004531 65.78 55.78 61.46 0.59 0.52 0.44 1.06 1.58 1.47
CCL18 ENST00000004921 79.50 89.41 87.59 0.34 0.27 0.27 0.57 0.37 0.31
SENP1 ENST00000004980 9.18 9.25 6.56 2.28 2.47 3.01 0.47 0.47 0.32
PDK4 ENST00000005178 47.32 70.12 58.81 0.56 0.53 0.51 1.82 1.12 1.65
USH1C ENST00000005226 35.93 47.69 40.10 0.94 0.61 0.82 1.87 1.97 1.99
RALA ENST00000005257 1.62 10.04 3.26 4.30 2.35 3.88 0.20 0.49 0.24
BAIAP2L1 ENST00000005260 50.07 35.32 40.88 0.54 0.77 0.78 1.81 1.58 2.06
CACNG3 ENST00000005284 3.68 6.67 2.67 3.81 2.66 4.01 0.31 0.37 0.23
TMEM132A ENST00000005286 57.99 42.77 49.28 0.56 0.62 0.70 1.52 1.91 1.85
DVL2 ENST00000005340 51.00 34.61 41.01 0.62 0.80 0.76 1.85 1.54 2.04
RPAP3 ENST00000005386 37.98 31.43 32.89 0.92 0.96 0.86 1.72 1.42 1.67
PRSS21 ENST00000005995 97.96 70.97 87.60 0.11 0.49 0.27 0.11 1.06 0.31
HOXA11 ENST00000006015 12.53 14.20 11.01 1.67 2.06 2.20 0.63 0.60 0.44
CX3CL1 ENST00000006053 98.52 19.84 59.42 0.10 1.42 0.49 0.11 0.74 1.71

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