GeVIR Banner

Export Results to CSV Clear Search

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
ACER3 ENST00000532485 9.69 14.40 9.49 2.15 2.05 2.30 0.49 0.61 0.40
ANTXR1 ENST00000303714 9.69 11.74 8.08 2.15 2.07 2.59 0.49 0.57 0.37
TMEM184C ENST00000296582 9.70 25.69 15.52 2.15 1.24 1.80 0.49 1.05 0.67
SLC5A7 ENST00000264047 9.71 28.18 16.79 2.15 1.18 1.70 0.49 1.21 0.70
LINC00955 ENST00000514422 9.71 79.40 42.87 2.15 0.38 0.68 0.49 0.67 1.99
TRIM26 ENST00000454678 9.72 22.66 13.88 2.15 1.46 2.10 0.49 0.87 0.59
MDM2 ENST00000462284 9.72 3.48 3.93 2.15 3.39 3.77 0.49 0.29 0.23
RALGAPB ENST00000262879 9.73 1.31 2.90 2.15 3.97 4.00 0.49 0.27 0.23
ST8SIA4 ENST00000231461 9.73 47.98 27.03 2.15 0.61 0.99 0.49 2.00 1.29
CKS1B ENST00000308987 9.74 48.50 27.25 2.15 0.65 0.99 0.49 2.02 1.25
TCF21 ENST00000367882 9.74 24.73 15.04 2.16 1.32 1.87 0.49 1.05 0.63
EPHA4 ENST00000281821 9.75 3.13 3.80 2.15 3.44 3.78 0.49 0.28 0.24
SCAF4 ENST00000286835 9.75 1.32 2.95 2.14 3.97 3.99 0.49 0.27 0.23
GRIK3 ENST00000373091 9.76 5.51 4.89 2.14 3.02 3.67 0.49 0.33 0.25
RAB9B ENST00000243298 9.76 34.76 20.31 2.13 0.77 1.47 0.50 1.55 0.88
CGGBP1 ENST00000398392 9.77 31.86 18.81 2.13 0.94 1.57 0.50 1.48 0.82
FGF9 ENST00000382353 9.77 13.33 8.93 2.13 2.05 2.48 0.50 0.61 0.38
LSM6 ENST00000502781 9.78 24.61 14.99 2.14 1.30 1.89 0.50 1.05 0.63
SAP130 ENST00000357702 9.78 3.51 3.97 2.14 3.38 3.77 0.50 0.29 0.23
ARID4B ENST00000264183 9.79 5.11 4.76 2.14 3.20 3.67 0.50 0.33 0.25
CDH8 ENST00000577390 9.79 11.75 8.14 2.14 2.07 2.58 0.50 0.57 0.37
CERS2 ENST00000271688 9.80 21.26 13.13 2.13 1.42 2.10 0.50 0.81 0.52
KCNJ13 ENST00000233826 9.80 49.08 27.58 2.11 0.67 0.96 0.50 2.04 1.26
HPCAL1 ENST00000381765 9.81 18.80 11.90 2.11 1.53 2.28 0.50 0.74 0.46
NAP1L1 ENST00000261182 9.81 4.64 4.55 2.11 3.27 3.70 0.50 0.31 0.25

Cookies disclaimer

I agree Our site saves small pieces of text information (cookies) on your device in order to deliver better content and for statistical purposes. You can disable the usage of cookies by changing the settings of your browser. By browsing our website without changing the browser settings you grant us permission to store that information on your device.