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C2ORF15 vs C2orf15

Open blajoie opened this issue 6 years ago • 1 comments

We (@vgainullin) have found an occurrence of case-sensitive gene names?

http://exac.broadinstitute.org/gene/ENSG00000273045 http://exac.broadinstitute.org/gene/ENSG00000241962

Both of these GENES exist in the fordist_cleaned_exac_r03_march16_z_pli_rec_null_data.txt.gz dump.

C2ORF15 looks to be invalid. Perhaps this is a bug? Affecting GNOMAD as well?

{ u'bp': 378, u'cds_end': 99767297, u'cds_start': 99763930, u'chr': u'2', u'exp_lof': 4.02128738, u'exp_mis': 31.9587584, u'exp_syn': 12.886011, u'gene': u'C2ORF15', u'lof_z': 0.50449294, u'mis_z': 0.34251584, u'mu_lof': 2.8e-07, u'mu_mis': 2.75e-06, u'mu_syn': 1.06e-06, u'n_exons': 2, u'n_lof': 3, u'n_mis': 28, u'n_syn': 14, u'pLI': 0.01311959, u'pNull': 0.3262246, u'pRec': 0.66065581, u'syn_z': -0.19238513, u'transcript': u'ENST00000302513.2'}

{ u'bp': 486, u'cds_end': 99812168, u'cds_start': 99802666, u'chr': u'2', u'exp_lof': 6.23037702, u'exp_mis': 48.13188456, u'exp_syn': 18.57931905, u'gene': u'C2orf15', u'lof_z': 2.0757045, u'mis_z': -0.41371287, u'mu_lof': 3.9e-07, u'mu_mis': 4.24e-06, u'mu_syn': 1.5e-06, u'n_exons': 5, u'n_lof': 1, u'n_mis': 54, u'n_syn': 15, u'pLI': 0.54325245, u'pNull': 0.01430108, u'pRec': 0.44244647, u'syn_z': 0.5147959, u'transcript': u'ENST00000512183.2'}

blajoie avatar Feb 28 '18 23:02 blajoie