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
ENST00000283228 [[71031861, 71033057], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71148081], [71155250, 71155406], [71158444, 71158558], [71286458, 71286757], [71314112, 71314623]] [[71032963, 71033057], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71148081], [71155250, 71155406], [71158444, 71158558], [71286458, 71286757], [71314112, 71314170]]
ENST00000440835 [[71031852, 71033057], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71148441]] [[71032963, 71033057], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71147973]]
ENST00000537619 [[71031858, 71033057], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71058112, 71058457]] None
ENST00000551219 [[71031858, 71033057], [71033298, 71033452], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71066499, 71066756], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71139597, 71139866], [71147970, 71148371]] [[71066624, 71066756], [71077906, 71078044], [71078483, 71078563], [71092044, 71092120]]
ENST00000547752 [[71031861, 71033057], [71050483, 71050597], [71054719, 71054987], [71056274, 71056385], [71058112, 71058152]] None
ENST00000378778 [[71031861, 71033057], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71148081], [71148364, 71148373]] [[71032963, 71033057], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71148081], [71148364, 71148373]]
ENST00000342084 [[71032710, 71033057], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71148081], [71155250, 71155406], [71158444, 71158558], [71182595, 71182762]] [[71032963, 71033057], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71148081], [71155250, 71155406], [71158444, 71158558], [71182595, 71182616]]
ENST00000549308 [[71032839, 71033057], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71148081], [71148364, 71148496]] [[71032963, 71033057], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71147973]]
ENST00000549107 [[71032909, 71033057], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71077906, 71078044], [71078483, 71078676]] None
ENST00000548220 [[71054769, 71054987], [71056274, 71056385], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71148081], [71148364, 71148539]] None
ENST00000550661 [[71078511, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71148081], [71148195, 71148515]] [[71078511, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71147973]]
NM_002849 [[71031852, 71033057], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71148081], [71155250, 71155406], [71158444, 71158558], [71286458, 71286757], [71314112, 71314584]] [[71032963, 71033057], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71148081], [71155250, 71155406], [71158444, 71158558], [71286458, 71286757], [71314112, 71314170]]
NM_130846 [[71031852, 71033057], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71148388]] [[71032963, 71033057], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71147973]]
NR_073474 [[71031852, 71033057], [71033298, 71033452], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71066499, 71066756], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71139597, 71139866], [71147970, 71148388]] None
NM_001207016 [[71031852, 71033057], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71148081], [71148364, 71148539]] [[71032963, 71033057], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71148081], [71148364, 71148373]]
NM_001207015 [[71031852, 71033057], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71148081], [71155250, 71155406], [71158444, 71158558], [71182595, 71182710]] [[71032963, 71033057], [71050483, 71050597], [71054719, 71054877], [71056274, 71056385], [71077906, 71078044], [71078483, 71078563], [71092044, 71092129], [71094916, 71095103], [71139597, 71139866], [71147970, 71148081], [71155250, 71155406], [71158444, 71158558], [71182595, 71182616]]
Promoter
Chrom Start End Description
chr12 71058399 71058412 CAGE_peak_10_at_PTPRR_5end
chr12 71058417 71058442 CAGE_peak_5_at_PTPRR_5end
chr12 71148228 71148248 CAGE_peak_6_at_PTPRR_5end
chr12 71148329 71148334 CAGE_peak_15_at_PTPRR_5end
chr12 71148357 71148369 CAGE_peak_7_at_PTPRR_5end
chr12 71148381 71148405 CAGE_peak_3_at_PTPRR_5end
chr12 71148413 71148422 CAGE_peak_11_at_PTPRR_5end
chr12 71182681 71182693 CAGE_peak_18_at_PTPRR_5end
chr12 71182695 71182705 CAGE_peak_23_at_PTPRR_5end
chr12 71314311 71314312 CAGE_peak_20_at_PTPRR_5end
chr12 71314319 71314322 CAGE_peak_14_at_PTPRR_5end
chr12 71314342 71314347 CAGE_peak_12_at_PTPRR_5end
chr12 71314356 71314378 CAGE_peak_4_at_PTPRR_5end
chr12 71314392 71314444 CAGE_peak_2_at_PTPRR_5end
chr12 71314446 71314530 CAGE_peak_1_at_PTPRR_5end
chr12 71314547 71314562 CAGE_peak_8_at_PTPRR_5end
chr12 71314617 71314622 CAGE_peak_16_at_PTPRR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I070720 70720161 70720310 0.57 [{'connected_gene': 'FAHD2P1', 'score': 0.25}, {'connected_gene': 'GC12P070907', 'score': 0.09}, {'connected_gene': 'PTPRR', 'score': 0.08}]
chr12 GH12I070756 70755786 70757148 1.05 [{'connected_gene': 'FAHD2P1', 'score': 0.18}, {'connected_gene': 'GC12P070907', 'score': 0.1}, {'connected_gene': 'PTPRR', 'score': 0.1}]
chr12 GH12I070755 70754321 70754470 0.72 [{'connected_gene': 'FAHD2P1', 'score': 0.18}, {'connected_gene': 'GC12P070907', 'score': 0.1}, {'connected_gene': 'PTPRR', 'score': 0.1}]
chr12 GH12I070750 70750574 70751747 0.38 [{'connected_gene': 'FAHD2P1', 'score': 0.18}, {'connected_gene': 'GC12P070907', 'score': 0.1}, {'connected_gene': 'PTPRR', 'score': 0.1}]
chr12 GH12I070719 70719047 70720070 0.89 [{'connected_gene': 'FAHD2P1', 'score': 0.25}, {'connected_gene': 'GC12P070907', 'score': 0.09}, {'connected_gene': 'PTPRR', 'score': 0.08}]
chr12 GH12I070733 70733521 70733650 0.65 [{'connected_gene': 'FAHD2P1', 'score': 0.21}, {'connected_gene': 'GC12P070907', 'score': 0.09}, {'connected_gene': 'PTPRR', 'score': 0.09}]
chr12 GH12I070743 70743669 70744763 0.68 [{'connected_gene': 'FAHD2P1', 'score': 0.19}, {'connected_gene': 'GC12P070907', 'score': 0.1}, {'connected_gene': 'PTPRR', 'score': 0.1}]
chr12 GH12I070757 70757982 70758801 0.76 [{'connected_gene': 'FAHD2P1', 'score': 0.17}, {'connected_gene': 'GC12P070907', 'score': 0.11}, {'connected_gene': 'PTPRR', 'score': 0.1}]
chr12 GH12I070670 70670136 70672238 0.31 [{'connected_gene': 'FAHD2P1', 'score': 550.77}, {'connected_gene': 'PTPRB', 'score': 17.15}, {'connected_gene': 'PTPRR', 'score': 0.07}]
chr12 GH12I070663 70663905 70665110 1.03 [{'connected_gene': 'FAHD2P1', 'score': 5.5}, {'connected_gene': 'PTPRB', 'score': 0.31}, {'connected_gene': 'PTPRR', 'score': 0.07}]
chr12 GH12I070644 70644385 70649750 1.58 [{'connected_gene': 'FAHD2P1', 'score': 9.05}, {'connected_gene': 'PTPRB', 'score': 6.48}, {'connected_gene': 'CNOT2', 'score': 2.22}, {'connected_gene': 'PTPRR', 'score': 0.06}]
chr12 GH12I070838 70838271 70838488 0.39 [{'connected_gene': 'PTPRR', 'score': 18.79}, {'connected_gene': 'GC12P070907', 'score': 0.2}, {'connected_gene': 'FAHD2P1', 'score': 0.1}]
chr12 GH12I070771 70771328 70778898 0.46 [{'connected_gene': 'PTPRR', 'score': 5.67}, {'connected_gene': 'FAHD2P1', 'score': 0.15}, {'connected_gene': 'GC12P070907', 'score': 0.12}]
chr12 GH12I070754 70754598 70754657 0.93 [{'connected_gene': 'PTPRR', 'score': 550.1}, {'connected_gene': 'FAHD2P1', 'score': 0.18}, {'connected_gene': 'GC12P070907', 'score': 0.1}]
chr12 GH12I070788 70788910 70788969 0.5 [{'connected_gene': 'PTPRR', 'score': 550.12}, {'connected_gene': 'GC12P070907', 'score': 0.13}, {'connected_gene': 'FAHD2P1', 'score': 0.13}]
chr12 GH12I070643 70643663 70643794 0.22 [{'connected_gene': 'PTPRR', 'score': 8.47}, {'connected_gene': 'KCNMB4', 'score': 2.77}, {'connected_gene': 'PTPRB', 'score': 0.44}, {'connected_gene': 'FAHD2P1', 'score': 0.31}]
chr12 GH12I070920 70920681 70920781 0.99 [{'connected_gene': 'PTPRR', 'score': 550.77}, {'connected_gene': 'ENSG00000207387', 'score': 0.39}]
chr12 GH12I070949 70949141 70949290 0.2 [{'connected_gene': 'PTPRR', 'score': 0.31}, {'connected_gene': 'ENSG00000257265', 'score': 0.18}]
chr12 GH12I070972 70971141 70971290 0.2 [{'connected_gene': 'PTPRR', 'score': 0.23}, {'connected_gene': 'ENSG00000257265', 'score': 0.21}]
chr12 GH12I070921 70920601 70920630 0.49 [{'connected_gene': 'PTPRR', 'score': 550.77}, {'connected_gene': 'ENSG00000207387', 'score': 0.39}]
chr12 GH12I070971 70971541 70971690 0.31 [{'connected_gene': 'PTPRR', 'score': 0.23}, {'connected_gene': 'ENSG00000257265', 'score': 0.21}]
chr12 GH12I070691 70691052 70691962 0.93 [{'connected_gene': 'PTPRB', 'score': 11.39}, {'connected_gene': 'FAHD2P1', 'score': 0.37}, {'connected_gene': 'GC12P070907', 'score': 0.08}, {'connected_gene': 'PTPRR', 'score': 0.07}]
chr12 GH12I070638 70638733 70639208 0.76 [{'connected_gene': 'PTPRB', 'score': 550.77}, {'connected_gene': 'FAHD2P1', 'score': 0.29}, {'connected_gene': 'PTPRR', 'score': 0.06}]
chr12 GH12I070721 70721801 70724129 0.76 [{'connected_gene': 'PTPRB', 'score': 10.08}, {'connected_gene': 'FAHD2P1', 'score': 0.23}, {'connected_gene': 'GC12P070907', 'score': 0.09}, {'connected_gene': 'PTPRR', 'score': 0.08}]
chr12 GH12I070660 70660217 70662811 1.64 [{'connected_gene': 'CNOT2', 'score': 45.22}, {'connected_gene': 'PTPRB', 'score': 11.2}, {'connected_gene': 'LINC01481', 'score': 10.94}, {'connected_gene': 'FAHD2P1', 'score': 9.22}, {'connected_gene': 'PTPRR', 'score': 0.07}]
chr12 GH12I070808 70808101 70808250 0.31 [{'connected_gene': 'GC12P070907', 'score': 0.15}, {'connected_gene': 'PTPRR', 'score': 0.14}, {'connected_gene': 'FAHD2P1', 'score': 0.12}]
chr12 GH12I070830 70830728 70832370 0.57 [{'connected_gene': 'GC12P070907', 'score': 0.18}, {'connected_gene': 'PTPRR', 'score': 0.17}, {'connected_gene': 'FAHD2P1', 'score': 0.1}]
chr12 GH12I070853 70853461 70853610 0.64 [{'connected_gene': 'GC12P070907', 'score': 0.23}, {'connected_gene': 'PTPRR', 'score': 0.2}, {'connected_gene': 'FAHD2P1', 'score': 0.09}]
chr12 GH12I070983 70983095 70984517 0.31 [{'connected_gene': 'ENSG00000257815', 'score': 4.2}, {'connected_gene': 'ENSG00000257265', 'score': 0.25}, {'connected_gene': 'PTPRR', 'score': 0.21}]
chr12 GH12I070993 70993721 70995499 0.69 [{'connected_gene': 'ENSG00000257265', 'score': 0.28}, {'connected_gene': 'PTPRR', 'score': 0.19}]
chr12 GH12I070811 70811622 70818450 0.62 [{'connected_gene': 'ENSG00000257815', 'score': 10.39}, {'connected_gene': 'PTPRB', 'score': 4.89}, {'connected_gene': 'GC12P070907', 'score': 0.16}, {'connected_gene': 'PTPRR', 'score': 0.14}, {'connected_gene': 'FAHD2P1', 'score': 0.11}]

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