Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000375094 [[32146130, 32146428], [32147317, 32147336], [32147427, 32147540], [32147653, 32147708], [32147785, 32147903], [32148005, 32148570]] [[32146288, 32146428], [32147317, 32147336], [32147427, 32147540], [32147653, 32147708], [32147785, 32147903], [32148005, 32148103]]
ENST00000487940 [[32146213, 32146428], [32147317, 32147336], [32147427, 32147550]] None
ENST00000427134 [[32146273, 32146428], [32147317, 32147336], [32147427, 32147540], [32147653, 32147708], [32147785, 32147903], [32151065, 32151930]] [[32146288, 32146428], [32147317, 32147336], [32147427, 32147540], [32147653, 32147708], [32147785, 32147903], [32151065, 32151169]]
NM_006913 [[32146161, 32146428], [32147317, 32147336], [32147427, 32147540], [32147653, 32147708], [32147785, 32147903], [32148005, 32148570]] [[32146288, 32146428], [32147317, 32147336], [32147427, 32147540], [32147653, 32147708], [32147785, 32147903], [32148005, 32148103]]
NM_006913 [[3460902, 3461169], [3462058, 3462077], [3462168, 3462281], [3462394, 3462449], [3462526, 3462644], [3462746, 3463311]] [[3461029, 3461169], [3462058, 3462077], [3462168, 3462281], [3462394, 3462449], [3462526, 3462644], [3462746, 3462844]]
NM_006913 [[3616842, 3617109], [3617998, 3618017], [3618108, 3618221], [3618334, 3618389], [3618466, 3618584], [3618686, 3619251]] [[3616969, 3617109], [3617998, 3618017], [3618108, 3618221], [3618334, 3618389], [3618466, 3618584], [3618686, 3618784]]
NM_006913 [[3525990, 3526257], [3527144, 3527163], [3527254, 3527367], [3527480, 3527535], [3527612, 3527730], [3527832, 3528397]] [[3526117, 3526257], [3527144, 3527163], [3527254, 3527367], [3527480, 3527535], [3527612, 3527730], [3527832, 3527930]]
NM_006913 [[3407181, 3407448], [3408337, 3408356], [3408447, 3408560], [3408673, 3408728], [3408805, 3408923], [3409025, 3409590]] [[3407308, 3407448], [3408337, 3408356], [3408447, 3408560], [3408673, 3408728], [3408805, 3408923], [3409025, 3409123]]
NM_006913 [[3488985, 3489252], [3490141, 3490160], [3490251, 3490364], [3490477, 3490532], [3490609, 3490727], [3490829, 3491394]] [[3489112, 3489252], [3490141, 3490160], [3490251, 3490364], [3490477, 3490532], [3490609, 3490727], [3490829, 3490927]]
NM_006913 [[3493889, 3494156], [3495045, 3495064], [3495155, 3495268], [3495381, 3495436], [3495513, 3495631], [3495733, 3496298]] [[3494016, 3494156], [3495045, 3495064], [3495155, 3495268], [3495381, 3495436], [3495513, 3495631], [3495733, 3495831]]
Promoter
Chrom Start End Description
chr6 32146167 32146230 CAGE_peak_1_at_RNF5_5end
chr6 32146268 32146280 CAGE_peak_2_at_RNF5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I032118 32118424 32119960 0.91 [{'connected_gene': 'PPT2', 'score': 11.82}, {'connected_gene': 'PRRT1', 'score': 11.8}, {'connected_gene': 'EGFL8', 'score': 11.77}, {'connected_gene': 'AGPAT1', 'score': 11.75}, {'connected_gene': 'RNF5', 'score': 11.75}, {'connected_gene': 'SKIV2L', 'score': 5.48}, {'connected_gene': 'TNXB', 'score': 0.77}, {'connected_gene': 'ATF6B', 'score': 0.44}]
chr6 GH06I032106 32106381 32116122 2.04 [{'connected_gene': 'TNXB', 'score': 559.11}, {'connected_gene': 'C4A', 'score': 33.8}, {'connected_gene': 'HLA-DRB1', 'score': 25.68}, {'connected_gene': 'ATF6B', 'score': 24.39}, {'connected_gene': 'SKIV2L', 'score': 13.9}, {'connected_gene': 'STK19', 'score': 11.52}, {'connected_gene': 'TNXA', 'score': 10.96}, {'connected_gene': 'AGER', 'score': 10.9}, {'connected_gene': 'CYP21A1P', 'score': 10.59}, {'connected_gene': 'STK19B', 'score': 9.12}, {'connected_gene': 'CYP21A2', 'score': 6.53}, {'connected_gene': 'VWA7', 'score': 6.09}, {'connected_gene': 'PPT2', 'score': 5.82}, {'connected_gene': 'HLA-DRB6', 'score': 5.21}, {'connected_gene': 'LY6G5B', 'score': 4.05}, {'connected_gene': 'LY6G6C', 'score': 2.55}, {'connected_gene': 'EGFL8', 'score': 2.46}, {'connected_gene': 'RNF5', 'score': 2.01}, {'connected_gene': 'RNA5SP206', 'score': 0.29}]
chr6 GH06I032075 32075578 32077347 0.87 [{'connected_gene': 'TNXB', 'score': 11.84}, {'connected_gene': 'ATF6B', 'score': 11.8}, {'connected_gene': 'FKBPL', 'score': 11.48}, {'connected_gene': 'PPT2', 'score': 11.43}, {'connected_gene': 'PRRT1', 'score': 11.43}, {'connected_gene': 'EGFL8', 'score': 11.41}, {'connected_gene': 'RNF5', 'score': 11.39}, {'connected_gene': 'AGPAT1', 'score': 11.39}, {'connected_gene': 'RNA5SP206', 'score': 0.77}, {'connected_gene': 'CYP21A2', 'score': 0.28}]
chr6 GH06I032090 32090705 32091062 0.2 [{'connected_gene': 'TNXB', 'score': 12.25}, {'connected_gene': 'ATF6B', 'score': 12.18}, {'connected_gene': 'FKBPL', 'score': 11.33}, {'connected_gene': 'PPT2', 'score': 11.26}, {'connected_gene': 'PRRT1', 'score': 11.26}, {'connected_gene': 'EGFL8', 'score': 11.24}, {'connected_gene': 'AGPAT1', 'score': 11.22}, {'connected_gene': 'RNF5', 'score': 11.22}, {'connected_gene': 'SKIV2L', 'score': 10.03}, {'connected_gene': 'MIR1236', 'score': 10.03}, {'connected_gene': 'ENSG00000271821', 'score': 4.79}, {'connected_gene': 'RNA5SP206', 'score': 0.39}]
chr6 GH06I032089 32089752 32089900 0.38 [{'connected_gene': 'SKIV2L', 'score': 15.03}, {'connected_gene': 'TNXB', 'score': 12.24}, {'connected_gene': 'ATF6B', 'score': 12.2}, {'connected_gene': 'FKBPL', 'score': 11.55}, {'connected_gene': 'PPT2', 'score': 11.5}, {'connected_gene': 'PRRT1', 'score': 11.5}, {'connected_gene': 'EGFL8', 'score': 11.48}, {'connected_gene': 'AGPAT1', 'score': 11.46}, {'connected_gene': 'RNF5', 'score': 11.46}, {'connected_gene': 'CFB', 'score': 10.61}, {'connected_gene': 'ENSG00000244255', 'score': 10.59}, {'connected_gene': 'C2', 'score': 10.58}, {'connected_gene': 'RNA5SP206', 'score': 0.39}]
chr6 GH06I032172 32172874 32173534 0.89 [{'connected_gene': 'RNF5', 'score': 22.0}, {'connected_gene': 'ATF6B', 'score': 7.11}, {'connected_gene': 'MIR6721', 'score': 0.77}, {'connected_gene': 'AGPAT1', 'score': 0.77}]
chr6 GH06I032175 32175199 32180320 2.32 [{'connected_gene': 'RNF5', 'score': 572.87}, {'connected_gene': 'AGPAT1', 'score': 563.82}, {'connected_gene': 'BRD2', 'score': 66.14}, {'connected_gene': 'LSM2', 'score': 61.15}, {'connected_gene': 'LY6G5B', 'score': 60.65}, {'connected_gene': 'DDX39B', 'score': 59.26}, {'connected_gene': 'ATF6B', 'score': 42.03}, {'connected_gene': 'GPANK1', 'score': 37.04}, {'connected_gene': 'VARS', 'score': 36.0}, {'connected_gene': 'BAG6', 'score': 35.57}, {'connected_gene': 'TNXB', 'score': 34.77}, {'connected_gene': 'CSNK2B', 'score': 34.08}, {'connected_gene': 'MSH5', 'score': 33.43}, {'connected_gene': 'MICA', 'score': 26.25}, {'connected_gene': 'HLA-DRB1', 'score': 24.52}, {'connected_gene': 'PPT2', 'score': 23.46}, {'connected_gene': 'DXO', 'score': 21.61}, {'connected_gene': 'NFKBIL1', 'score': 19.35}, {'connected_gene': 'CLIC1', 'score': 17.93}, {'connected_gene': 'STK19B', 'score': 16.88}, {'connected_gene': 'AGER', 'score': 14.79}, {'connected_gene': 'SKIV2L', 'score': 12.2}, {'connected_gene': 'RPL3P2', 'score': 11.71}, {'connected_gene': 'TAP1', 'score': 11.42}, {'connected_gene': 'EHMT2', 'score': 10.99}, {'connected_gene': 'NELFE', 'score': 10.84}, {'connected_gene': 'EGFL8', 'score': 10.6}, {'connected_gene': 'PBX2', 'score': 10.59}, {'connected_gene': 'STK19', 'score': 10.48}, {'connected_gene': 'SAPCD1', 'score': 10.42}, {'connected_gene': 'MICA-AS1', 'score': 10.28}, {'connected_gene': 'C6orf47', 'score': 10.17}, {'connected_gene': 'HLA-B', 'score': 9.72}, {'connected_gene': 'HLA-DRB6', 'score': 6.57}, {'connected_gene': 'HLA-C', 'score': 5.23}, {'connected_gene': 'HCG23', 'score': 5.22}, {'connected_gene': 'MIR6833', 'score': 0.77}, {'connected_gene': 'MIR6721', 'score': 0.44}]
chr6 GH06I032185 32184602 32197957 2.54 [{'connected_gene': 'PBX2', 'score': 575.9}, {'connected_gene': 'GPSM3', 'score': 550.77}, {'connected_gene': 'ATF6B', 'score': 43.48}, {'connected_gene': 'DDX39B', 'score': 42.43}, {'connected_gene': 'BRD2', 'score': 33.02}, {'connected_gene': 'LSM2', 'score': 31.35}, {'connected_gene': 'LY6G5B', 'score': 29.56}, {'connected_gene': 'HLA-DRB1', 'score': 27.91}, {'connected_gene': 'MSH5', 'score': 21.88}, {'connected_gene': 'MICA', 'score': 21.32}, {'connected_gene': 'RPL3P2', 'score': 21.17}, {'connected_gene': 'AGER', 'score': 20.02}, {'connected_gene': 'RNF5', 'score': 19.95}, {'connected_gene': 'SKIV2L', 'score': 18.93}, {'connected_gene': 'NOTCH4', 'score': 16.13}, {'connected_gene': 'STK19B', 'score': 16.08}, {'connected_gene': 'C4A', 'score': 14.86}, {'connected_gene': 'CSNK2B', 'score': 12.24}, {'connected_gene': 'C6orf47', 'score': 12.19}, {'connected_gene': 'NFKBIL1', 'score': 11.98}, {'connected_gene': 'GPANK1', 'score': 11.04}, {'connected_gene': 'EHMT2', 'score': 10.99}, {'connected_gene': 'SAPCD1', 'score': 10.42}, {'connected_gene': 'BAG6', 'score': 9.87}, {'connected_gene': 'CLIC1', 'score': 9.68}, {'connected_gene': 'TNXA', 'score': 8.87}, {'connected_gene': 'HLA-DQA2', 'score': 8.38}, {'connected_gene': 'DXO', 'score': 7.78}, {'connected_gene': 'HLA-DRB6', 'score': 6.09}, {'connected_gene': 'HLA-C', 'score': 5.46}, {'connected_gene': 'VWA7', 'score': 4.47}, {'connected_gene': 'ENSG00000273333', 'score': 0.44}]
chr6 GH06I032165 32165924 32170077 1 [{'connected_gene': 'ATF6B', 'score': 26.82}, {'connected_gene': 'RNF5', 'score': 22.06}, {'connected_gene': 'AGPAT1', 'score': 14.49}, {'connected_gene': 'SKIV2L', 'score': 14.14}, {'connected_gene': 'DXO', 'score': 13.09}, {'connected_gene': 'MICB', 'score': 12.85}, {'connected_gene': 'HLA-DQA2', 'score': 5.91}, {'connected_gene': 'HLA-C', 'score': 5.49}, {'connected_gene': 'EGFL8', 'score': 0.77}, {'connected_gene': 'MIR6721', 'score': 0.77}, {'connected_gene': 'PPT2-EGFL8', 'score': 0.39}]
chr6 GH06I032369 32369477 32372101 1.15 [{'connected_gene': 'C6orf10', 'score': 550.77}, {'connected_gene': 'HLA-DRB1', 'score': 33.75}, {'connected_gene': 'HLA-DRB6', 'score': 29.94}, {'connected_gene': 'HLA-DQA2', 'score': 26.11}, {'connected_gene': 'RNF5', 'score': 12.36}, {'connected_gene': 'C4A', 'score': 11.62}, {'connected_gene': 'HLA-DRB5', 'score': 11.24}, {'connected_gene': 'HLA-DQB2', 'score': 10.69}, {'connected_gene': 'LOC101929163', 'score': 10.67}, {'connected_gene': 'ATF6B', 'score': 9.77}, {'connected_gene': 'TNXB', 'score': 9.67}, {'connected_gene': 'HCG23', 'score': 6.87}, {'connected_gene': 'SKIV2L', 'score': 5.87}, {'connected_gene': 'BTNL2', 'score': 5.43}, {'connected_gene': 'C6orf48', 'score': 4.97}, {'connected_gene': 'MICA', 'score': 4.21}, {'connected_gene': 'RNU6-603P', 'score': 0.37}]
chr6 GH06I032243 32243991 32245423 1.07 [{'connected_gene': 'HLA-DRB1', 'score': 33.55}, {'connected_gene': 'RING1', 'score': 11.74}, {'connected_gene': 'HLA-DRB6', 'score': 11.16}, {'connected_gene': 'RNF5', 'score': 11.02}, {'connected_gene': 'AGPAT1', 'score': 11.02}, {'connected_gene': 'EGFL8', 'score': 10.99}, {'connected_gene': 'PPT2', 'score': 10.97}, {'connected_gene': 'PRRT1', 'score': 10.97}, {'connected_gene': 'HLA-DRB5', 'score': 10.97}, {'connected_gene': 'FKBPL', 'score': 10.95}, {'connected_gene': 'ATF6B', 'score': 10.94}, {'connected_gene': 'HLA-C', 'score': 9.89}, {'connected_gene': 'HLA-DQA2', 'score': 6.64}, {'connected_gene': 'HCG23', 'score': 5.09}, {'connected_gene': 'HLA-B', 'score': 4.98}, {'connected_gene': 'STK19B', 'score': 4.54}, {'connected_gene': 'ENSG00000277427', 'score': 0.39}, {'connected_gene': 'NOTCH4', 'score': 0.34}]
chr6 GH06I032254 32254433 32256637 1.38 [{'connected_gene': 'LOC101929163', 'score': 550.77}, {'connected_gene': 'ENSG00000277427', 'score': 550.77}, {'connected_gene': 'HLA-DRB1', 'score': 23.27}, {'connected_gene': 'RNF5', 'score': 12.99}, {'connected_gene': 'HLA-DRB6', 'score': 10.84}, {'connected_gene': 'HCG23', 'score': 9.58}, {'connected_gene': 'CYP21A1P', 'score': 6.77}, {'connected_gene': 'PRRT1', 'score': 6.4}, {'connected_gene': 'SKIV2L', 'score': 5.47}, {'connected_gene': 'CYP21A2', 'score': 5.05}]
chr6 GH06I032150 32150846 32155987 2.11 [{'connected_gene': 'PPT2-EGFL8', 'score': 550.77}, {'connected_gene': 'PPT2', 'score': 550.77}, {'connected_gene': 'PRRT1', 'score': 550.77}, {'connected_gene': 'LOC100507547', 'score': 550.77}, {'connected_gene': 'ATF6B', 'score': 42.91}, {'connected_gene': 'MSH5', 'score': 34.74}, {'connected_gene': 'BRD2', 'score': 30.21}, {'connected_gene': 'HLA-DRB1', 'score': 28.79}, {'connected_gene': 'DDX39B', 'score': 28.71}, {'connected_gene': 'SKIV2L', 'score': 28.67}, {'connected_gene': 'RNF5', 'score': 21.79}, {'connected_gene': 'SAPCD1', 'score': 19.97}, {'connected_gene': 'LY6G5B', 'score': 17.47}, {'connected_gene': 'PBX2', 'score': 14.89}, {'connected_gene': 'LSM2', 'score': 14.1}, {'connected_gene': 'RPL3P2', 'score': 12.66}, {'connected_gene': 'CSNK2B', 'score': 12.09}, {'connected_gene': 'NELFE', 'score': 12.08}, {'connected_gene': 'NFKBIL1', 'score': 11.97}, {'connected_gene': 'TCF19', 'score': 11.33}, {'connected_gene': 'CCHCR1', 'score': 10.96}, {'connected_gene': 'MICA', 'score': 10.87}, {'connected_gene': 'EGFL8', 'score': 10.63}, {'connected_gene': 'GPANK1', 'score': 10.52}, {'connected_gene': 'FKBPL', 'score': 10.21}, {'connected_gene': 'HLA-DRB6', 'score': 6.11}, {'connected_gene': 'HLA-DQA1', 'score': 5.06}, {'connected_gene': 'GC06M032131', 'score': 0.34}]

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