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
ENST00000506237 [[32531738, 32532022], [32588617, 32588690], [32591668, 32591791], [32599066, 32599175], [32601110, 32601429]] [[32588618, 32588690], [32591668, 32591791], [32599066, 32599175], [32601110, 32601190]]
ENST00000512913 [[32531923, 32532022], [32571196, 32571280], [32588617, 32588690], [32591668, 32591791], [32599066, 32599175], [32601110, 32601306]] [[32588618, 32588690], [32591668, 32591791], [32599066, 32599175], [32601110, 32601190]]
ENST00000513013 [[32531954, 32532022], [32536743, 32536801], [32571196, 32571280], [32591668, 32591791], [32599066, 32599175], [32601110, 32601161]] None
ENST00000265073 [[32585604, 32585731], [32588617, 32588690], [32591668, 32591791], [32599066, 32599175], [32601110, 32604185]] [[32588618, 32588690], [32591668, 32591791], [32599066, 32599175], [32601110, 32601190]]
ENST00000511615 [[32585664, 32585731], [32588617, 32588690], [32591668, 32591791], [32594676, 32594978], [32599066, 32599175], [32601110, 32602094]] [[32588618, 32588690], [32591668, 32591791], [32594676, 32594736]]
ENST00000515355 [[32585676, 32585731], [32586474, 32586607], [32588617, 32588690], [32591668, 32591791], [32599066, 32599175], [32601110, 32601388]] [[32588618, 32588690], [32591668, 32591791], [32599066, 32599175], [32601110, 32601190]]
ENST00000502897 [[32585693, 32585731], [32586534, 32586607], [32588617, 32588690], [32591668, 32591791], [32599066, 32599175], [32601110, 32601256]] [[32588618, 32588690], [32591668, 32591791], [32599066, 32599175], [32601110, 32601190]]
ENST00000510442 [[32585705, 32586077], [32586597, 32586607], [32588617, 32588690], [32591668, 32591793]] [[32588618, 32588690], [32591668, 32591793]]
ENST00000504789 [[32585992, 32586077], [32591668, 32591791], [32599066, 32599175], [32601110, 32601363]] None
ENST00000511988 [[32586219, 32586607], [32588617, 32588690], [32591668, 32591791]] None
ENST00000504016 [[32588642, 32588690], [32591668, 32591791], [32601110, 32601448]] None
ENST00000511175 [[32591353, 32591791], [32599066, 32599175], [32601110, 32601199]] None
ENST00000502453 [[32595028, 32599175], [32601110, 32601236]] None
NM_006713 [[32585604, 32585731], [32588617, 32588690], [32591668, 32591791], [32599066, 32599175], [32601110, 32604185]] [[32588618, 32588690], [32591668, 32591791], [32599066, 32599175], [32601110, 32601190]]
Promoter
Chrom Start End Description
chr5 32531893 32531930 CAGE_peak_3_at_SUB1_5end
chr5 32531931 32531951 CAGE_peak_2_at_SUB1_5end
chr5 32531956 32531978 CAGE_peak_4_at_SUB1_5end
chr5 32585655 32585686 CAGE_peak_1_at_SUB1_5end
chr5 32586287 32586314 CAGE_peak_6_at_SUB1_5end
chr5 32586322 32586343 CAGE_peak_9_at_SUB1_5end
chr5 32586526 32586534 CAGE_peak_15_at_SUB1_5end
chr5 32586539 32586555 CAGE_peak_8_at_SUB1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I032489 32489355 32491089 1.13 [{'connected_gene': 'LOC646616', 'score': 12.58}, {'connected_gene': 'SUB1', 'score': 12.55}, {'connected_gene': 'ZFR', 'score': 11.29}, {'connected_gene': 'MIR579', 'score': 11.2}]
chr5 GH05I032473 32473789 32475148 0.63 [{'connected_gene': 'LOC646616', 'score': 12.34}, {'connected_gene': 'SUB1', 'score': 12.32}, {'connected_gene': 'ZFR', 'score': 11.69}]
chr5 GH05I032522 32522448 32523254 0.69 [{'connected_gene': 'LOC646616', 'score': 550.77}, {'connected_gene': 'GC05P032525', 'score': 550.77}, {'connected_gene': 'SUB1', 'score': 0.44}]
chr5 GH05I032324 32324640 32325600 0.46 [{'connected_gene': 'MTMR12', 'score': 22.35}, {'connected_gene': 'MIR579', 'score': 10.93}, {'connected_gene': 'GOLPH3', 'score': 10.91}, {'connected_gene': 'ZFR', 'score': 10.85}, {'connected_gene': 'LOC646616', 'score': 10.0}, {'connected_gene': 'SUB1', 'score': 10.0}, {'connected_gene': 'GC05P032360', 'score': 0.28}]
chr5 GH05I032329 32329311 32332495 1.32 [{'connected_gene': 'MTMR12', 'score': 26.7}, {'connected_gene': 'MIR579', 'score': 11.21}, {'connected_gene': 'ZFR', 'score': 11.14}, {'connected_gene': 'GOLPH3', 'score': 10.91}, {'connected_gene': 'LOC646616', 'score': 10.0}, {'connected_gene': 'SUB1', 'score': 10.0}, {'connected_gene': 'GC05P032360', 'score': 0.31}]
chr5 GH05I032390 32390059 32392414 1.41 [{'connected_gene': 'MTMR12', 'score': 15.73}, {'connected_gene': 'SUB1', 'score': 1.78}, {'connected_gene': 'GC05M032394', 'score': 0.77}, {'connected_gene': 'GC05P032360', 'score': 0.29}, {'connected_gene': 'ZFR', 'score': 0.23}]
chr5 GH05I032592 32592844 32593326 0.41 [{'connected_gene': 'MTMR12', 'score': 12.12}, {'connected_gene': 'GC05M032623', 'score': 0.29}, {'connected_gene': 'SUB1', 'score': 0.21}]
chr5 GH05I032540 32540079 32541280 0.65 [{'connected_gene': 'ZFR', 'score': 10.81}, {'connected_gene': 'SUB1', 'score': 0.44}, {'connected_gene': 'GC05M032623', 'score': 0.18}]
chr5 GH05I032590 32590275 32590424 0.91 [{'connected_gene': 'ZFR', 'score': 11.44}, {'connected_gene': 'GC05M032623', 'score': 0.29}, {'connected_gene': 'SUB1', 'score': 0.22}]
chr5 GH05I032027 32027076 32030199 1.38 [{'connected_gene': 'PDZD2', 'score': 16.85}, {'connected_gene': 'SUB1', 'score': 5.61}, {'connected_gene': 'LOC105374711', 'score': 0.2}, {'connected_gene': 'MIR4279', 'score': 0.16}]
chr5 GH05I032759 32759524 32761561 1.42 [{'connected_gene': 'SUB1', 'score': 1.78}, {'connected_gene': 'GC05M032746', 'score': 0.23}, {'connected_gene': 'NPR3', 'score': 0.19}]
chr5 GH05I032577 32577758 32580269 0.54 [{'connected_gene': 'SUB1', 'score': 12.6}, {'connected_gene': 'LOC646616', 'score': 12.57}, {'connected_gene': 'NPR3', 'score': 4.49}, {'connected_gene': 'GC05M032623', 'score': 0.26}]
chr5 GH05I032572 32572521 32575256 1.12 [{'connected_gene': 'SUB1', 'score': 12.54}, {'connected_gene': 'LOC646616', 'score': 12.51}, {'connected_gene': 'ENSG00000249572', 'score': 12.25}, {'connected_gene': 'MTMR12', 'score': 11.64}, {'connected_gene': 'GC05M032623', 'score': 0.25}]
chr5 GH05I032582 32582347 32587599 2.72 [{'connected_gene': 'SUB1', 'score': 565.93}, {'connected_gene': 'LOC646616', 'score': 12.64}, {'connected_gene': 'ZFR', 'score': 10.37}, {'connected_gene': 'GC05M032623', 'score': 0.28}]
chr5 GH05I032581 32581401 32581600 0.4 [{'connected_gene': 'SUB1', 'score': 11.89}, {'connected_gene': 'LOC646616', 'score': 11.86}, {'connected_gene': 'ZFR', 'score': 10.32}, {'connected_gene': 'GC05M032623', 'score': 0.26}]
chr5 GH05I032557 32557036 32557559 0.43 [{'connected_gene': 'SUB1', 'score': 12.85}, {'connected_gene': 'LOC646616', 'score': 12.83}, {'connected_gene': 'GC05M032623', 'score': 0.2}]
chr5 GH05I032530 32530973 32533125 1.2 [{'connected_gene': 'SUB1', 'score': 550.77}, {'connected_gene': 'DROSHA', 'score': 29.15}, {'connected_gene': 'MTMR12', 'score': 21.67}, {'connected_gene': 'GC05M032623', 'score': 0.16}]
chr5 GH05I032017 32017802 32018800 0.72 [{'connected_gene': 'SUB1', 'score': 6.25}, {'connected_gene': 'PDZD2', 'score': 6.04}, {'connected_gene': 'LOC105374711', 'score': 0.18}, {'connected_gene': 'MIR4279', 'score': 0.18}]
chr5 GH05I032563 32563988 32565300 0.38 [{'connected_gene': 'SUB1', 'score': 0.29}, {'connected_gene': 'GC05M032623', 'score': 0.22}]
chr5 GH05I032537 32537400 32538764 1.08 [{'connected_gene': 'SUB1', 'score': 0.44}, {'connected_gene': 'GC05M032623', 'score': 0.17}]
chr5 GH05I032565 32565987 32567431 0.69 [{'connected_gene': 'SUB1', 'score': 0.28}, {'connected_gene': 'GC05M032623', 'score': 0.22}]
chr5 GH05I032542 32542319 32543324 0.86 [{'connected_gene': 'SUB1', 'score': 0.39}, {'connected_gene': 'GC05M032623', 'score': 0.18}]
chr5 GH05I032766 32766912 32770233 1.58 [{'connected_gene': 'ENSG00000249572', 'score': 4.78}, {'connected_gene': 'SUB1', 'score': 1.75}, {'connected_gene': 'GC05M032746', 'score': 0.26}, {'connected_gene': 'NPR3', 'score': 0.18}]
chr5 GH05I032613 32613000 32613401 1.02 [{'connected_gene': 'GC05M032623', 'score': 0.39}, {'connected_gene': 'SUB1', 'score': 0.18}]
chr5 GH05I032599 32599715 32600583 0.54 [{'connected_gene': 'GC05M032623', 'score': 0.34}, {'connected_gene': 'SUB1', 'score': 0.2}]

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