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
NM_003487 [[34136458, 34136580], [34144719, 34144759], [34147027, 34147079], [34147167, 34147243], [34147335, 34147441], [34149643, 34149837], [34151081, 34151202], [34160910, 34160945], [34161569, 34161602], [34163135, 34163245], [34165427, 34165557], [34169370, 34169463], [34171080, 34171162], [34171283, 34171372], [34171480, 34172042], [34173909, 34174246]] [[34136573, 34136580], [34144719, 34144759], [34147027, 34147079], [34147167, 34147243], [34147335, 34147441], [34149643, 34149837], [34151081, 34151202], [34160910, 34160945], [34161569, 34161602], [34163135, 34163245], [34165427, 34165557], [34169370, 34169463], [34171080, 34171162], [34171283, 34171372], [34171480, 34172042], [34173909, 34173949]]
NM_139215 [[34136458, 34136580], [34144719, 34144759], [34147027, 34147079], [34147167, 34147252], [34147335, 34147441], [34149643, 34149837], [34151081, 34151202], [34160910, 34160945], [34161569, 34161602], [34163135, 34163245], [34165427, 34165557], [34169370, 34169463], [34171080, 34171162], [34171283, 34171372], [34171480, 34172042], [34173909, 34174246]] [[34136573, 34136580], [34144719, 34144759], [34147027, 34147079], [34147167, 34147252], [34147335, 34147441], [34149643, 34149837], [34151081, 34151202], [34160910, 34160945], [34161569, 34161602], [34163135, 34163245], [34165427, 34165557], [34169370, 34169463], [34171080, 34171162], [34171283, 34171372], [34171480, 34172042], [34173909, 34173949]]
Promoter
Chrom Start End Description
chr17 34136478 34136494 CAGE_peak_1_at_TAF15_5end
chr17 34171486 34171520 CAGE_peak_3_at_TAF15_5end
chr17 34171523 34171544 CAGE_peak_5_at_TAF15_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I035731 35731329 35732468 1.87 [{'connected_gene': 'RASL10B', 'score': 550.77}, {'connected_gene': 'GC17P035735', 'score': 550.77}, {'connected_gene': 'PIR33765', 'score': 550.77}, {'connected_gene': 'GC17P035734', 'score': 550.77}, {'connected_gene': 'TAF15', 'score': 0.37}]
chr17 GH17I035777 35777260 35779305 0.8 [{'connected_gene': 'TAF15', 'score': 11.51}, {'connected_gene': 'RASL10B', 'score': 10.81}, {'connected_gene': 'GC17P035762', 'score': 0.37}, {'connected_gene': 'MMP28', 'score': 0.37}]
chr17 GH17I035712 35712578 35714548 0.96 [{'connected_gene': 'TAF15', 'score': 550.77}, {'connected_gene': 'MMP28', 'score': 10.08}, {'connected_gene': 'AP2B1', 'score': 5.48}, {'connected_gene': 'LOC100420062', 'score': 5.43}, {'connected_gene': 'PIR37925', 'score': 0.19}]
chr17 GH17I035875 35875239 35877442 1.18 [{'connected_gene': 'TAF15', 'score': 11.63}, {'connected_gene': 'ENSG00000267744', 'score': 5.47}, {'connected_gene': 'CCL14', 'score': 5.37}, {'connected_gene': 'HEATR9', 'score': 4.9}, {'connected_gene': 'CCL5', 'score': 0.77}, {'connected_gene': 'ENSG00000270240', 'score': 0.44}, {'connected_gene': 'LOC105371744', 'score': 0.44}]
chr17 GH17I035772 35772943 35774601 0.69 [{'connected_gene': 'MMP28', 'score': 12.44}, {'connected_gene': 'GAS2L2', 'score': 11.7}, {'connected_gene': 'TAF15', 'score': 11.25}, {'connected_gene': 'RASL10B', 'score': 10.2}, {'connected_gene': 'GC17P035762', 'score': 0.39}]
chr17 GH17I035747 35747562 35747731 0.75 [{'connected_gene': 'MMP28', 'score': 10.82}, {'connected_gene': 'GC17P035742', 'score': 0.77}, {'connected_gene': 'GAS2L2', 'score': 0.44}, {'connected_gene': 'TAF15', 'score': 0.29}]
chr17 GH17I035716 35716417 35716451 0.2 [{'connected_gene': 'MMP28', 'score': 10.08}, {'connected_gene': 'RPL17P42', 'score': 0.77}, {'connected_gene': 'TAF15', 'score': 0.77}, {'connected_gene': 'AP2B1', 'score': 0.12}]
chr17 GH17I035878 35878307 35881482 1.71 [{'connected_gene': 'CCL5', 'score': 550.77}, {'connected_gene': 'C17orf50', 'score': 14.51}, {'connected_gene': 'TAF15', 'score': 11.98}, {'connected_gene': 'GAS2L2', 'score': 11.52}, {'connected_gene': 'ENSG00000270240', 'score': 0.39}, {'connected_gene': 'LOC105371744', 'score': 0.39}]
chr17 GH17I035752 35752957 35753016 0.5 [{'connected_gene': 'GAS2L2', 'score': 550.77}, {'connected_gene': 'GC17P035742', 'score': 0.39}, {'connected_gene': 'TAF15', 'score': 0.28}]
chr17 GH17I035749 35749836 35750921 0.68 [{'connected_gene': 'GAS2L2', 'score': 13.24}, {'connected_gene': 'C17orf50', 'score': 7.87}, {'connected_gene': 'GC17P035742', 'score': 0.44}, {'connected_gene': 'TAF15', 'score': 0.28}]
chr17 GH17I035790 35790189 35793832 0.46 [{'connected_gene': 'GAS2L2', 'score': 11.66}, {'connected_gene': 'C17orf50', 'score': 11.58}, {'connected_gene': 'RDM1', 'score': 5.45}, {'connected_gene': 'MMP28', 'score': 0.77}, {'connected_gene': 'GC17P035762', 'score': 0.31}, {'connected_gene': 'TAF15', 'score': 0.18}]
chr17 GH17I035725 35725265 35727707 1 [{'connected_gene': 'AP2B1', 'score': 18.16}, {'connected_gene': 'ZNF830', 'score': 13.68}, {'connected_gene': 'C17orf50', 'score': 11.32}, {'connected_gene': 'MMP28', 'score': 10.85}, {'connected_gene': 'LIG3', 'score': 9.84}, {'connected_gene': 'GAS2L2', 'score': 5.63}, {'connected_gene': 'RASL10B', 'score': 0.44}, {'connected_gene': 'RPL17P42', 'score': 0.44}, {'connected_gene': 'TAF15', 'score': 0.39}]
chr17 GH17I035617 35617055 35617711 0.46 [{'connected_gene': 'AP2B1', 'score': 16.67}, {'connected_gene': 'C17orf50', 'score': 10.72}, {'connected_gene': 'RASL10B', 'score': 10.69}, {'connected_gene': 'TAF15', 'score': 10.62}, {'connected_gene': 'MMP28', 'score': 9.81}, {'connected_gene': 'GC17M035631', 'score': 0.37}, {'connected_gene': 'LOC100420062', 'score': 0.34}]
chr17 GH17I035683 35683787 35685278 0.43 [{'connected_gene': 'AP2B1', 'score': 18.73}, {'connected_gene': 'C17orf50', 'score': 11.05}, {'connected_gene': 'TAF15', 'score': 10.99}, {'connected_gene': 'RASL10B', 'score': 10.9}, {'connected_gene': 'LOC100420062', 'score': 5.45}, {'connected_gene': 'PIR37925', 'score': 0.26}]
chr17 GH17I035613 35613062 35613191 0.56 [{'connected_gene': 'C17orf50', 'score': 11.18}, {'connected_gene': 'TAF15', 'score': 10.71}, {'connected_gene': 'RASL10B', 'score': 10.65}, {'connected_gene': 'PEX12', 'score': 10.6}, {'connected_gene': 'MMP28', 'score': 10.18}, {'connected_gene': 'LOC100420062', 'score': 0.37}, {'connected_gene': 'GC17M035631', 'score': 0.34}, {'connected_gene': 'AP2B1', 'score': 0.28}]
chr17 GH17I035801 35801261 35802325 0.83 [{'connected_gene': 'C17orf50', 'score': 26.51}, {'connected_gene': 'GC17P035798', 'score': 0.44}, {'connected_gene': 'GC17P035797', 'score': 0.44}, {'connected_gene': 'PIR58663', 'score': 0.44}, {'connected_gene': 'ENSG00000270829', 'score': 0.44}, {'connected_gene': 'TAF15', 'score': 0.17}]
chr17 GH17I035799 35799919 35800778 0.77 [{'connected_gene': 'C17orf50', 'score': 11.81}, {'connected_gene': 'GC17P035798', 'score': 0.77}, {'connected_gene': 'GC17P035797', 'score': 0.77}, {'connected_gene': 'PIR58663', 'score': 0.77}, {'connected_gene': 'ENSG00000270829', 'score': 0.44}, {'connected_gene': 'TAF15', 'score': 0.17}]
chr17 GH17I035760 35760847 35760906 0.5 [{'connected_gene': 'C17orf50', 'score': 550.77}, {'connected_gene': 'GC17P035762', 'score': 550.77}, {'connected_gene': 'MMP28', 'score': 0.29}, {'connected_gene': 'TAF15', 'score': 0.25}]
chr17 GH17I035717 35716718 35717592 0.57 [{'connected_gene': 'C17orf50', 'score': 11.29}, {'connected_gene': 'MMP28', 'score': 10.39}, {'connected_gene': 'AP2B1', 'score': 9.59}, {'connected_gene': 'RPL17P42', 'score': 0.77}, {'connected_gene': 'TAF15', 'score': 0.77}]
chr17 GH17I035895 35895253 35903351 1.44 [{'connected_gene': 'C17orf50', 'score': 14.23}, {'connected_gene': 'CCL5', 'score': 12.85}, {'connected_gene': 'GAS2L2', 'score': 11.51}, {'connected_gene': 'TAF15', 'score': 8.64}, {'connected_gene': 'HEATR9', 'score': 5.55}, {'connected_gene': 'SLFN12L', 'score': 5.51}, {'connected_gene': 'SLFN14', 'score': 2.65}, {'connected_gene': 'GC17M035888', 'score': 0.44}, {'connected_gene': 'GC17M035909', 'score': 0.44}, {'connected_gene': 'PIR57610', 'score': 0.44}, {'connected_gene': 'LRRC37A8P', 'score': 0.39}]
chr17 GH17I035804 35804377 35805310 1.11 [{'connected_gene': 'C17orf50', 'score': 5.45}, {'connected_gene': 'HEATR9', 'score': 4.95}, {'connected_gene': 'ENSG00000270829', 'score': 0.77}, {'connected_gene': 'GC17P035798', 'score': 0.44}, {'connected_gene': 'GC17P035797', 'score': 0.44}, {'connected_gene': 'PIR58663', 'score': 0.44}, {'connected_gene': 'TAF15', 'score': 0.16}]
chr17 GH17I035783 35783027 35789942 1.24 [{'connected_gene': 'C17orf50', 'score': 23.64}, {'connected_gene': 'GAS2L2', 'score': 11.69}, {'connected_gene': 'TAF15', 'score': 11.4}, {'connected_gene': 'RASL10B', 'score': 10.79}, {'connected_gene': 'MMP28', 'score': 9.16}, {'connected_gene': 'RDM1', 'score': 5.48}, {'connected_gene': 'HEATR9', 'score': 4.85}, {'connected_gene': 'GC17P035762', 'score': 0.34}]
chr17 GH17I035666 35666524 35667867 0.67 [{'connected_gene': 'C17orf50', 'score': 10.6}, {'connected_gene': 'AP2B1', 'score': 10.57}, {'connected_gene': 'RASL10B', 'score': 10.37}, {'connected_gene': 'GAS2L2', 'score': 5.48}, {'connected_gene': 'PIR37925', 'score': 0.31}, {'connected_gene': 'TAF15', 'score': 0.25}]
chr17 GH17I035763 35763762 35767323 1.26 [{'connected_gene': 'LIG3', 'score': 135.81}, {'connected_gene': 'ZNF830', 'score': 119.6}, {'connected_gene': 'LINC02001', 'score': 30.04}, {'connected_gene': 'PEX12', 'score': 21.16}, {'connected_gene': 'AP2B1', 'score': 19.59}, {'connected_gene': 'C17orf50', 'score': 19.01}, {'connected_gene': 'GAS2L2', 'score': 11.76}, {'connected_gene': 'CCT6B', 'score': 10.45}, {'connected_gene': 'RAD51D', 'score': 9.96}, {'connected_gene': 'GC17P035762', 'score': 0.77}, {'connected_gene': 'MMP28', 'score': 0.29}, {'connected_gene': 'TAF15', 'score': 0.23}]
chr17 GH17I035718 35718162 35718311 0.38 [{'connected_gene': 'RPL17P42', 'score': 550.77}, {'connected_gene': 'C17orf50', 'score': 11.29}, {'connected_gene': 'MMP28', 'score': 10.39}, {'connected_gene': 'AP2B1', 'score': 5.48}, {'connected_gene': 'TAF15', 'score': 0.77}]
chr17 GH17I035807 35807390 35811315 2.08 [{'connected_gene': 'ENSG00000270829', 'score': 550.77}, {'connected_gene': 'TAF15', 'score': 550.15}, {'connected_gene': 'C17orf50', 'score': 14.74}, {'connected_gene': 'GAS2L2', 'score': 11.58}, {'connected_gene': 'LIG3', 'score': 11.45}, {'connected_gene': 'MMP28', 'score': 9.05}, {'connected_gene': 'HEATR9', 'score': 6.22}, {'connected_gene': 'RDM1', 'score': 5.53}, {'connected_gene': 'AP2B1', 'score': 4.6}, {'connected_gene': 'ENSG00000270894', 'score': 0.44}]
chr17 GH17I035905 35905940 35906961 0.38 [{'connected_gene': 'PIR57610', 'score': 550.77}, {'connected_gene': 'PIR45594', 'score': 550.77}, {'connected_gene': 'GC17M035909', 'score': 550.77}, {'connected_gene': 'TAF15', 'score': 7.3}, {'connected_gene': 'LRRC37A8P', 'score': 0.77}, {'connected_gene': 'GC17M035888', 'score': 0.37}]
chr17 GH17I035794 35794617 35795801 1.8 [{'connected_gene': 'GC17P035798', 'score': 550.77}, {'connected_gene': 'GC17P035797', 'score': 550.77}, {'connected_gene': 'PIR58663', 'score': 550.77}, {'connected_gene': 'MMP28', 'score': 550.77}, {'connected_gene': 'ZNF830', 'score': 12.68}, {'connected_gene': 'LIG3', 'score': 10.32}, {'connected_gene': 'GC17P035762', 'score': 0.29}, {'connected_gene': 'TAF15', 'score': 0.18}]
chr17 GH17I035741 35741222 35741351 0.64 [{'connected_gene': 'GC17P035742', 'score': 550.77}, {'connected_gene': 'MMP28', 'score': 11.16}, {'connected_gene': 'TAF15', 'score': 11.04}, {'connected_gene': 'NLE1', 'score': 9.43}, {'connected_gene': 'RASL10B', 'score': 0.44}, {'connected_gene': 'GC17P035735', 'score': 0.44}, {'connected_gene': 'PIR33765', 'score': 0.44}, {'connected_gene': 'GC17P035734', 'score': 0.44}]
chr17 GH17I035849 35849577 35849746 0.65 [{'connected_gene': 'PIR47475', 'score': 550.77}, {'connected_gene': 'CCL5', 'score': 11.31}, {'connected_gene': 'TAF15', 'score': 11.06}, {'connected_gene': 'C17orf50', 'score': 10.22}, {'connected_gene': 'RASL10B', 'score': 9.6}, {'connected_gene': 'GC17M035815', 'score': 0.37}]
chr17 GH17I035888 35888487 35894010 1.47 [{'connected_gene': 'ENSG00000271394', 'score': 550.77}, {'connected_gene': 'GC17M035888', 'score': 550.77}, {'connected_gene': 'CCL3', 'score': 22.25}, {'connected_gene': 'CCL4', 'score': 20.3}, {'connected_gene': 'CCL3L3', 'score': 18.82}, {'connected_gene': 'TAF15', 'score': 11.89}, {'connected_gene': 'GAS2L2', 'score': 11.52}, {'connected_gene': 'C17orf50', 'score': 9.27}, {'connected_gene': 'HEATR9', 'score': 5.59}, {'connected_gene': 'CCL5', 'score': 3.8}, {'connected_gene': 'SLFN12L', 'score': 2.39}, {'connected_gene': 'LYZL6', 'score': 2.17}, {'connected_gene': 'CCL23', 'score': 1.52}, {'connected_gene': 'GC17M035909', 'score': 0.37}, {'connected_gene': 'PIR57610', 'score': 0.37}, {'connected_gene': 'LRRC37A8P', 'score': 0.37}]
chr17 GH17I035559 35559331 35561587 0.97 [{'connected_gene': 'ENSG00000267625', 'score': 550.77}, {'connected_gene': 'SLFN14', 'score': 550.77}, {'connected_gene': 'RASL10B', 'score': 20.73}, {'connected_gene': 'SLFN12L', 'score': 11.26}, {'connected_gene': 'TAF15', 'score': 10.31}, {'connected_gene': 'AP2B1', 'score': 5.73}, {'connected_gene': 'LOC100420062', 'score': 5.51}, {'connected_gene': 'GAS2L2', 'score': 5.38}, {'connected_gene': 'GC17M035546', 'score': 0.44}]
chr17 GH17I035817 35817377 35817526 0.43 [{'connected_gene': 'ENSG00000270894', 'score': 550.77}, {'connected_gene': 'C17orf50', 'score': 11.57}, {'connected_gene': 'MMP28', 'score': 11.35}, {'connected_gene': 'HEATR9', 'score': 4.73}, {'connected_gene': 'ENSG00000270829', 'score': 0.44}, {'connected_gene': 'ENSG00000270871', 'score': 0.39}, {'connected_gene': 'GC17M035815', 'score': 0.37}, {'connected_gene': 'TAF15', 'score': 0.15}]
chr17 GH17I035850 35850157 35850291 0.31 [{'connected_gene': 'PIR47475', 'score': 550.77}, {'connected_gene': 'C17orf50', 'score': 19.06}, {'connected_gene': 'CCL5', 'score': 11.31}, {'connected_gene': 'TAF15', 'score': 11.06}, {'connected_gene': 'RASL10B', 'score': 9.6}, {'connected_gene': 'GC17M035815', 'score': 0.37}]
chr17 GH17I035913 35913808 35916493 0.72 [{'connected_gene': 'GC17M036104', 'score': 550.77}, {'connected_gene': 'PIR35668', 'score': 550.77}, {'connected_gene': 'LOC100133244', 'score': 550.77}, {'connected_gene': 'GC17M035998', 'score': 550.77}, {'connected_gene': 'GC17M036091', 'score': 550.77}, {'connected_gene': 'PIR33389', 'score': 550.77}, {'connected_gene': 'GC17M036089', 'score': 550.77}, {'connected_gene': 'GC17M036095', 'score': 550.77}, {'connected_gene': 'PIR61102', 'score': 550.77}, {'connected_gene': 'PIR48977', 'score': 550.77}, {'connected_gene': 'PIR33779', 'score': 550.77}, {'connected_gene': 'GC17M036100', 'score': 550.77}, {'connected_gene': 'TAF15', 'score': 9.81}, {'connected_gene': 'C17orf50', 'score': 7.34}, {'connected_gene': 'HEATR9', 'score': 6.67}, {'connected_gene': 'LRRC37A9P', 'score': 0.77}]

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