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
ENST00000382172 [[24304327, 24304584], [24330683, 24330757], [24334234, 24334356], [24380088, 24380208], [24383988, 24384063], [24410378, 24410488], [24411690, 24411895], [24413787, 24413865], [24415473, 24415627], [24432998, 24433051], [24436440, 24436501], [24438279, 24438328], [24443430, 24443587], [24444151, 24444334], [24448984, 24449048], [24453406, 24453493], [24455837, 24455926], [24460471, 24460645], [24463270, 24463558]] [[24304486, 24304584], [24330683, 24330757], [24334234, 24334356], [24380088, 24380208], [24383988, 24384063], [24410378, 24410488], [24411690, 24411895], [24413787, 24413865], [24415473, 24415627], [24432998, 24433051], [24436440, 24436501], [24438279, 24438328], [24443430, 24443587], [24444151, 24444334], [24448984, 24449048], [24453406, 24453493], [24455837, 24455926], [24460471, 24460645], [24463270, 24463459]]
ENST00000464194 [[24304327, 24304584], [24330683, 24330969]] None
ENST00000433710 [[24304327, 24304584], [24330683, 24330757], [24334234, 24334356], [24334671, 24334712]] [[24304545, 24304584], [24330683, 24330757], [24334234, 24334356], [24334671, 24334712]]
ENST00000494139 [[24416408, 24416708], [24432998, 24433051], [24436440, 24436501], [24438279, 24438328], [24443430, 24443587], [24444151, 24444334]] None
ENST00000469167 [[24455837, 24455926], [24460471, 24460645], [24462816, 24463537]] None
NM_005932 [[24304327, 24304584], [24330683, 24330757], [24334234, 24334356], [24380088, 24380208], [24383988, 24384063], [24410378, 24410488], [24411690, 24411895], [24413787, 24413865], [24415473, 24415627], [24432998, 24433051], [24436440, 24436501], [24438279, 24438328], [24443430, 24443587], [24444151, 24444334], [24448984, 24449048], [24453406, 24453493], [24455837, 24455926], [24460471, 24460645], [24463270, 24463587]] [[24304486, 24304584], [24330683, 24330757], [24334234, 24334356], [24380088, 24380208], [24383988, 24384063], [24410378, 24410488], [24411690, 24411895], [24413787, 24413865], [24415473, 24415627], [24432998, 24433051], [24436440, 24436501], [24438279, 24438328], [24443430, 24443587], [24444151, 24444334], [24448984, 24449048], [24453406, 24453493], [24455837, 24455926], [24460471, 24460645], [24463270, 24463459]]
Promoter
Chrom Start End Description
chr13 24463456 24463528 CAGE_peak_2_at_MIPEP_5end
chr13 24463530 24463592 CAGE_peak_1_at_MIPEP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I023578 23578505 23581085 1.97 [{'connected_gene': 'TNFRSF19', 'score': 550.44}, {'connected_gene': 'C1QTNF9B', 'score': 10.28}, {'connected_gene': 'MIPEP', 'score': 10.05}, {'connected_gene': 'PCOTH', 'score': 10.05}, {'connected_gene': 'LOC105370114', 'score': 0.12}]
chr13 GH13I023762 23762369 23764047 0.2 [{'connected_gene': 'TNFRSF19', 'score': 9.4}, {'connected_gene': 'C1QTNF9', 'score': 7.12}, {'connected_gene': 'MIPEP', 'score': 6.81}, {'connected_gene': 'MTCO3P2', 'score': 0.77}, {'connected_gene': 'PIR57166', 'score': 0.25}]
chr13 GH13I023859 23859308 23859421 0.46 [{'connected_gene': 'PCOTH', 'score': 0.31}, {'connected_gene': 'MIPEP', 'score': 0.29}, {'connected_gene': 'MTCO3P2', 'score': 0.16}]
chr13 GH13I023769 23769183 23772824 0.96 [{'connected_gene': 'MIPEP', 'score': 10.5}, {'connected_gene': 'TNFRSF19', 'score': 9.62}, {'connected_gene': 'C1QTNF9', 'score': 4.75}, {'connected_gene': 'MTCO3P2', 'score': 0.77}, {'connected_gene': 'PCOTH', 'score': 0.13}]
chr13 GH13I023608 23608043 23610999 1.05 [{'connected_gene': 'MIPEP', 'score': 11.22}, {'connected_gene': 'PCOTH', 'score': 11.22}, {'connected_gene': 'C1QTNF9B', 'score': 11.22}, {'connected_gene': 'TNFRSF19', 'score': 10.51}, {'connected_gene': 'LOC105370114', 'score': 0.14}]
chr13 GH13I023504 23504584 23508235 1.09 [{'connected_gene': 'MIPEP', 'score': 11.27}, {'connected_gene': 'PCOTH', 'score': 11.27}, {'connected_gene': 'C1QTNF9B', 'score': 11.27}, {'connected_gene': 'TNFRSF19', 'score': 11.22}, {'connected_gene': 'LINC00352', 'score': 0.44}, {'connected_gene': 'PIR60894', 'score': 0.31}]
chr13 GH13I023887 23887795 23890292 2.03 [{'connected_gene': 'MIPEP', 'score': 562.0}, {'connected_gene': 'PCOTH', 'score': 550.77}, {'connected_gene': 'C1QTNF9', 'score': 43.24}]
chr13 GH13I023860 23859582 23859731 0.62 [{'connected_gene': 'MIPEP', 'score': 0.31}, {'connected_gene': 'PCOTH', 'score': 0.31}, {'connected_gene': 'MTCO3P2', 'score': 0.16}]
chr13 GH13I023749 23749870 23755311 1.19 [{'connected_gene': 'MIPEP', 'score': 9.38}, {'connected_gene': 'C1QTNF9', 'score': 4.77}, {'connected_gene': 'MTCO3P2', 'score': 0.39}, {'connected_gene': 'PIR57166', 'score': 0.28}]
chr13 GH13I023789 23789636 23792199 0.87 [{'connected_gene': 'MIPEP', 'score': 11.09}, {'connected_gene': 'MTCO3P2', 'score': 0.34}, {'connected_gene': 'PCOTH', 'score': 0.15}]
chr13 GH13I023748 23748116 23748864 0.38 [{'connected_gene': 'MIPEP', 'score': 10.02}, {'connected_gene': 'MTCO3P2', 'score': 0.37}, {'connected_gene': 'PIR57166', 'score': 0.29}]
chr13 GH13I023468 23468864 23471435 0.59 [{'connected_gene': 'C1QTNF9B', 'score': 11.97}, {'connected_gene': 'MIPEP', 'score': 11.72}, {'connected_gene': 'PCOTH', 'score': 11.72}, {'connected_gene': 'SACS', 'score': 11.27}, {'connected_gene': 'TNFRSF19', 'score': 10.4}, {'connected_gene': 'LINC00327', 'score': 0.77}, {'connected_gene': 'LINC00352', 'score': 0.31}]
chr13 GH13I023903 23903201 23903800 0.31 [{'connected_gene': 'C1QTNF9B', 'score': 550.77}, {'connected_gene': 'C1QTNF9', 'score': 15.23}, {'connected_gene': 'MIPEP', 'score': 9.63}, {'connected_gene': 'PIR57853', 'score': 0.26}]
chr13 GH13I023805 23805792 23808699 0.95 [{'connected_gene': 'C1QTNF9', 'score': 27.18}, {'connected_gene': 'TNFRSF19', 'score': 9.14}, {'connected_gene': 'MIPEP', 'score': 8.74}, {'connected_gene': 'MTCO3P2', 'score': 0.26}, {'connected_gene': 'PCOTH', 'score': 0.18}]
chr13 GH13I023848 23848162 23849490 0.31 [{'connected_gene': 'C1QTNF9', 'score': 28.33}, {'connected_gene': 'MIPEP', 'score': 11.67}, {'connected_gene': 'TNFRSF19', 'score': 9.96}, {'connected_gene': 'PCOTH', 'score': 0.26}, {'connected_gene': 'MTCO3P2', 'score': 0.18}]
chr13 GH13I023866 23866304 23869579 1.14 [{'connected_gene': 'C1QTNF9', 'score': 39.85}, {'connected_gene': 'MIPEP', 'score': 21.1}, {'connected_gene': 'PCOTH', 'score': 11.96}, {'connected_gene': 'C1QTNF9B', 'score': 11.91}, {'connected_gene': 'TNFRSF19', 'score': 10.34}, {'connected_gene': 'MTCO3P2', 'score': 0.15}]
chr13 GH13I023899 23899702 23900000 0.74 [{'connected_gene': 'C1QTNF9', 'score': 14.37}, {'connected_gene': 'MIPEP', 'score': 10.34}, {'connected_gene': 'C1QTNF9B', 'score': 0.77}]
chr13 GH13I023897 23897506 23899369 0.38 [{'connected_gene': 'C1QTNF9', 'score': 38.58}, {'connected_gene': 'MIPEP', 'score': 10.6}, {'connected_gene': 'C1QTNF9B', 'score': 0.77}]
chr13 GH13I023722 23722382 23725476 0.63 [{'connected_gene': 'C1QTNF9', 'score': 19.01}, {'connected_gene': 'MIPEP', 'score': 5.37}, {'connected_gene': 'LOC105370113', 'score': 0.44}, {'connected_gene': 'PIR57166', 'score': 0.44}, {'connected_gene': 'MTCO3P2', 'score': 0.26}]
chr13 GH13I023719 23719126 23719779 0.43 [{'connected_gene': 'C1QTNF9', 'score': 6.68}, {'connected_gene': 'MIPEP', 'score': 4.96}, {'connected_gene': 'LOC105370113', 'score': 0.77}, {'connected_gene': 'PIR57166', 'score': 0.77}, {'connected_gene': 'MTCO3P2', 'score': 0.25}]
chr13 GH13I023792 23792629 23797485 1.18 [{'connected_gene': 'C1QTNF9', 'score': 26.39}, {'connected_gene': 'MIPEP', 'score': 8.97}, {'connected_gene': 'MTCO3P2', 'score': 0.31}, {'connected_gene': 'PCOTH', 'score': 0.16}]
chr13 GH13I023799 23799132 23801644 1.04 [{'connected_gene': 'C1QTNF9', 'score': 21.57}, {'connected_gene': 'MIPEP', 'score': 8.56}, {'connected_gene': 'MTCO3P2', 'score': 0.29}, {'connected_gene': 'PCOTH', 'score': 0.17}]
chr13 GH13I023776 23776705 23779221 1.04 [{'connected_gene': 'C1QTNF9', 'score': 24.43}, {'connected_gene': 'MIPEP', 'score': 10.27}, {'connected_gene': 'MTCO3P2', 'score': 0.39}, {'connected_gene': 'PCOTH', 'score': 0.14}]
chr13 GH13I023810 23810581 23812636 0.63 [{'connected_gene': 'C1QTNF9', 'score': 26.64}, {'connected_gene': 'MTCO3P2', 'score': 0.25}, {'connected_gene': 'MIPEP', 'score': 0.18}, {'connected_gene': 'PCOTH', 'score': 0.18}]
chr13 GH13I023460 23460601 23461000 0.54 [{'connected_gene': 'SACS', 'score': 11.96}, {'connected_gene': 'MIPEP', 'score': 11.35}, {'connected_gene': 'PCOTH', 'score': 11.35}, {'connected_gene': 'C1QTNF9B', 'score': 11.35}, {'connected_gene': 'TNFRSF19', 'score': 9.96}, {'connected_gene': 'LINC00327', 'score': 0.44}]
chr13 GH13I023372 23372012 23380327 2.14 [{'connected_gene': 'SACS', 'score': 558.64}, {'connected_gene': 'MIPEP', 'score': 11.07}, {'connected_gene': 'PCOTH', 'score': 11.07}, {'connected_gene': 'C1QTNF9B', 'score': 11.07}, {'connected_gene': 'RPLP1P13', 'score': 0.77}, {'connected_gene': 'SACS-AS1', 'score': 0.26}]
chr13 GH13I023766 23766462 23766611 0.52 [{'connected_gene': 'MTCO3P2', 'score': 550.77}, {'connected_gene': 'TNFRSF19', 'score': 9.59}, {'connected_gene': 'MIPEP', 'score': 0.13}, {'connected_gene': 'PCOTH', 'score': 0.13}]
chr13 GH13I023743 23743822 23743971 0.57 [{'connected_gene': 'MTCO3P2', 'score': 0.34}, {'connected_gene': 'PIR57166', 'score': 0.31}, {'connected_gene': 'MIPEP', 'score': 0.11}]
chr13 GH13I023744 23743322 23743491 0.49 [{'connected_gene': 'MTCO3P2', 'score': 0.34}, {'connected_gene': 'PIR57166', 'score': 0.31}, {'connected_gene': 'MIPEP', 'score': 0.11}]
chr13 GH13I023465 23465989 23467989 1.38 [{'connected_gene': 'LINC00327', 'score': 550.77}, {'connected_gene': 'C1QTNF9B', 'score': 11.97}, {'connected_gene': 'MIPEP', 'score': 11.72}, {'connected_gene': 'PCOTH', 'score': 11.72}, {'connected_gene': 'TNFRSF19', 'score': 10.4}, {'connected_gene': 'LINC00352', 'score': 0.29}]