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
ENST00000591891 [[68049569, 68049761], [68104441, 68104522], [68127019, 68127116], [68128135, 68128334]] [[68128228, 68128334]]
ENST00000588112 [[68071386, 68071531], [68096798, 68098351]] None
ENST00000392671 [[68071425, 68071531], [68096798, 68096907], [68127019, 68127116], [68128135, 68131744]] [[68128228, 68129485]]
ENST00000283936 [[68071425, 68071531], [68096798, 68096907], [68104441, 68104522], [68127019, 68127116], [68128135, 68131744]] [[68128228, 68129485]]
ENST00000589377 [[68071461, 68071531], [68128135, 68131749]] [[68128228, 68129485]]
ENST00000586462 [[68092780, 68093067], [68128135, 68129745]] [[68093043, 68093067], [68128135, 68129485]]
ENST00000392670 [[68100994, 68101216], [68104441, 68104522], [68127019, 68127116], [68128135, 68131744]] [[68128228, 68129485]]
ENST00000585558 [[68100994, 68101216], [68104441, 68104522], [68127019, 68127116], [68128135, 68131749]] [[68127104, 68127116], [68128135, 68129485]]
ENST00000587698 [[68101138, 68101216], [68127019, 68127116], [68127493, 68127621], [68128135, 68128421]] [[68128228, 68128421]]
ENST00000587892 [[68101140, 68101216], [68104441, 68104522], [68127019, 68127116], [68127493, 68127621], [68128135, 68128335]] [[68128228, 68128335]]
NM_170741 [[68071365, 68071531], [68096798, 68096907], [68127019, 68127116], [68128135, 68131749]] [[68127104, 68127116], [68128135, 68129485]]
NM_018658 [[68071365, 68071531], [68096798, 68096907], [68104441, 68104522], [68127019, 68127116], [68128135, 68131749]] [[68127104, 68127116], [68128135, 68129485]]
NM_001270422 [[68071365, 68071531], [68096798, 68096907], [68104441, 68104522], [68127019, 68127116], [68127493, 68127621], [68128135, 68131749]] [[68128228, 68129485]]
NM_001291622 [[68071365, 68071531], [68096798, 68096907], [68104441, 68104522], [68106501, 68106583], [68127019, 68127116], [68128135, 68131749]] [[68127104, 68127116], [68128135, 68129485]]
NM_001291623 [[68100985, 68101216], [68127019, 68127116], [68128135, 68131749]] [[68127104, 68127116], [68128135, 68129485]]
NM_001291624 [[68100985, 68101216], [68127019, 68127116], [68127493, 68127621], [68128135, 68131749]] [[68128228, 68129485]]
NM_170742 [[68100985, 68101216], [68104441, 68104522], [68127019, 68127116], [68128135, 68131749]] [[68127104, 68127116], [68128135, 68129485]]
NM_001291625 [[68100985, 68101216], [68104441, 68104522], [68127019, 68127116], [68127493, 68127621], [68128135, 68131749]] [[68128228, 68129485]]
Promoter
Chrom Start End Description
chr17 68071356 68071379 CAGE_peak_3_at_KCNJ16_5end
chr17 68071389 68071396 CAGE_peak_7_at_KCNJ16_5end
chr17 68071458 68071481 CAGE_peak_1_at_KCNJ16_5end
chr17 68100989 68101026 CAGE_peak_5_at_KCNJ16_5end
chr17 68101047 68101078 CAGE_peak_4_at_KCNJ16_5end
chr17 68101098 68101109 CAGE_peak_6_at_KCNJ16_5end
chr17 68101117 68101162 CAGE_peak_2_at_KCNJ16_5end
chr17 68128382 68128407 CAGE_peak_10_at_KCNJ16_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I070053 70053058 70054291 0.63 [{'connected_gene': 'KCNJ16', 'score': 555.51}, {'connected_gene': 'LOC105371881', 'score': 4.74}, {'connected_gene': 'LINC01028', 'score': 0.77}, {'connected_gene': 'GC17P070078', 'score': 0.34}]
chr17 GH17I070080 70080686 70080809 0.2 [{'connected_gene': 'KCNJ16', 'score': 16.85}, {'connected_gene': 'LOC105371881', 'score': 11.55}, {'connected_gene': 'GC17P070078', 'score': 0.77}, {'connected_gene': 'GC17P070128', 'score': 0.25}]
chr17 GH17I070104 70104880 70104939 0.5 [{'connected_gene': 'KCNJ16', 'score': 550.23}, {'connected_gene': 'LOC105371881', 'score': 11.43}, {'connected_gene': 'GC17P070128', 'score': 0.34}, {'connected_gene': 'GC17P070078', 'score': 0.31}]
chr17 GH17I070082 70082404 70082802 0.22 [{'connected_gene': 'KCNJ16', 'score': 17.65}, {'connected_gene': 'LOC105371881', 'score': 11.45}, {'connected_gene': 'GC17P070078', 'score': 0.77}, {'connected_gene': 'GC17P070128', 'score': 0.25}]
chr17 GH17I070109 70109314 70111445 0.88 [{'connected_gene': 'KCNJ16', 'score': 11.75}, {'connected_gene': 'LOC105371881', 'score': 0.37}, {'connected_gene': 'GC17P070128', 'score': 0.37}, {'connected_gene': 'GC17P070078', 'score': 0.29}]
chr17 GH17I070029 70029454 70031173 0.2 [{'connected_gene': 'KCNJ16', 'score': 11.27}, {'connected_gene': 'PIR50953', 'score': 0.77}, {'connected_gene': 'GC17M070016', 'score': 0.44}, {'connected_gene': 'LOC105371881', 'score': 0.15}]
chr17 GH17I069997 69997380 69997529 0.46 [{'connected_gene': 'KCNJ16', 'score': 10.98}, {'connected_gene': 'ENSG00000199801', 'score': 0.39}, {'connected_gene': 'GC17M070016', 'score': 0.34}, {'connected_gene': 'LOC105371881', 'score': 0.12}]
chr17 GH17I070089 70089740 70090193 0.74 [{'connected_gene': 'KCNJ16', 'score': 12.93}, {'connected_gene': 'GC17P070078', 'score': 0.39}, {'connected_gene': 'LOC105371881', 'score': 0.28}, {'connected_gene': 'GC17P070128', 'score': 0.28}]
chr17 GH17I070074 70074008 70075823 1.06 [{'connected_gene': 'KCNJ16', 'score': 566.89}, {'connected_gene': 'LOC105371881', 'score': 10.72}, {'connected_gene': 'GC17P070078', 'score': 0.77}]
chr17 GH17I069856 69856370 69858018 0.93 [{'connected_gene': 'KCNJ16', 'score': 11.09}, {'connected_gene': 'LINC01497', 'score': 4.44}, {'connected_gene': 'GC17P069832', 'score': 0.34}, {'connected_gene': 'GC17M069883', 'score': 0.31}, {'connected_gene': 'LINC01483', 'score': 0.06}]
chr17 GH17I070059 70059407 70059500 0.31 [{'connected_gene': 'KCNJ16', 'score': 0.44}, {'connected_gene': 'LINC01028', 'score': 0.44}, {'connected_gene': 'GC17P070078', 'score': 0.37}, {'connected_gene': 'LOC105371881', 'score': 0.2}]
chr17 GH17I069853 69853120 69854635 0.69 [{'connected_gene': 'KCNJ16', 'score': 11.09}, {'connected_gene': 'GC17P069832', 'score': 0.34}, {'connected_gene': 'GC17M069883', 'score': 0.31}, {'connected_gene': 'LINC01483', 'score': 0.06}]
chr17 GH17I069606 69606178 69611112 1.25 [{'connected_gene': 'KCNJ16', 'score': 4.11}, {'connected_gene': 'GC17M069586', 'score': 0.44}, {'connected_gene': 'LINC01483', 'score': 0.29}, {'connected_gene': 'GC17M069657', 'score': 0.22}]
chr17 GH17I070123 70123307 70123445 0.46 [{'connected_gene': 'KCNJ2', 'score': 11.98}, {'connected_gene': 'LOC105371881', 'score': 0.44}, {'connected_gene': 'GC17P070128', 'score': 0.44}, {'connected_gene': 'GC17P070078', 'score': 0.25}, {'connected_gene': 'KCNJ16', 'score': 0.2}]
chr17 GH17I070121 70121171 70121317 0.34 [{'connected_gene': 'KCNJ2', 'score': 5.83}, {'connected_gene': 'LOC105371881', 'score': 0.44}, {'connected_gene': 'GC17P070128', 'score': 0.44}, {'connected_gene': 'GC17P070078', 'score': 0.26}, {'connected_gene': 'KCNJ16', 'score': 0.2}]
chr17 GH17I070099 70099201 70100149 0.76 [{'connected_gene': 'LOC105371881', 'score': 11.85}, {'connected_gene': 'KCNJ16', 'score': 8.68}, {'connected_gene': 'GC17P070078', 'score': 0.34}, {'connected_gene': 'GC17P070128', 'score': 0.31}]
chr17 GH17I070119 70119966 70120836 0.51 [{'connected_gene': 'LOC105371881', 'score': 0.44}, {'connected_gene': 'GC17P070128', 'score': 0.44}, {'connected_gene': 'GC17P070078', 'score': 0.26}, {'connected_gene': 'KCNJ16', 'score': 0.2}]
chr17 GH17I070127 70127320 70127469 0.31 [{'connected_gene': 'LOC105371881', 'score': 550.77}, {'connected_gene': 'GC17P070128', 'score': 550.77}, {'connected_gene': 'GC17P070078', 'score': 0.25}, {'connected_gene': 'KCNJ16', 'score': 0.19}]
chr17 GH17I070131 70131192 70131384 0.25 [{'connected_gene': 'LOC105371881', 'score': 0.77}, {'connected_gene': 'LOC105371882', 'score': 0.31}, {'connected_gene': 'KCNJ16', 'score': 0.18}]
chr17 GH17I069059 69059113 69063562 1.46 [{'connected_gene': 'ABCA9', 'score': 552.22}, {'connected_gene': 'KCNJ16', 'score': 6.06}, {'connected_gene': 'ABCA6', 'score': 5.79}, {'connected_gene': 'ABCA10', 'score': 4.74}, {'connected_gene': 'GC17P069034', 'score': 0.31}]
chr17 GH17I070072 70072801 70073000 0.31 [{'connected_gene': 'GC17P070078', 'score': 0.44}, {'connected_gene': 'KCNJ16', 'score': 0.37}, {'connected_gene': 'LOC105371881', 'score': 0.22}]
chr17 GH17I070070 70070460 70070549 0.49 [{'connected_gene': 'GC17P070078', 'score': 0.44}, {'connected_gene': 'KCNJ16', 'score': 0.37}, {'connected_gene': 'LOC105371881', 'score': 0.22}]
chr17 GH17I070073 70073020 70073169 0.2 [{'connected_gene': 'GC17P070078', 'score': 0.44}, {'connected_gene': 'KCNJ16', 'score': 0.37}, {'connected_gene': 'LOC105371881', 'score': 0.22}]