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
ENST00000535240 [[68164813, 68164998], [68170964, 68172464]] [[68171180, 68172464]]
ENST00000243457 [[68165675, 68165842], [68170964, 68176189]] [[68171180, 68172464]]
NM_000891 [[68165675, 68165842], [68170964, 68176185]] [[68171180, 68172464]]
Promoter
Chrom Start End Description
chr17 68164415 68164431 CAGE_peak_3_at_KCNJ2_5end
chr17 68164752 68164760 CAGE_peak_5_at_KCNJ2_5end
chr17 68165657 68165688 CAGE_peak_1_at_KCNJ2_5end
chr17 68165689 68165700 CAGE_peak_2_at_KCNJ2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I070174 70174826 70178887 0.43 [{'connected_gene': 'KCNJ2-AS1', 'score': 6.86}, {'connected_gene': 'GC17M070172', 'score': 0.77}, {'connected_gene': 'KCNJ2', 'score': 0.44}, {'connected_gene': 'CALM2P1', 'score': 0.21}]
chr17 GH17I070136 70136618 70139200 1.32 [{'connected_gene': 'KCNJ2', 'score': 4.98}, {'connected_gene': 'KCNJ2-AS1', 'score': 4.69}, {'connected_gene': 'LOC105371881', 'score': 0.44}, {'connected_gene': 'LOC105371882', 'score': 0.34}]
chr17 GH17I070167 70167503 70171801 2.1 [{'connected_gene': 'KCNJ2', 'score': 550.77}, {'connected_gene': 'KCNJ2-AS1', 'score': 550.77}, {'connected_gene': 'GC17M070164', 'score': 550.77}, {'connected_gene': 'GC17M070172', 'score': 0.77}]
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 GH17I069757 69757551 69758923 1.06 [{'connected_gene': 'KCNJ2', 'score': 8.28}, {'connected_gene': 'GC17P069764', 'score': 0.44}, {'connected_gene': 'GC17M069737', 'score': 0.37}, {'connected_gene': 'LINC01483', 'score': 0.09}]
chr17 GH17I070265 70265493 70265751 0.25 [{'connected_gene': 'KCNJ2', 'score': 20.29}, {'connected_gene': 'GC17P070276', 'score': 0.39}, {'connected_gene': 'CALM2P1', 'score': 0.34}]
chr17 GH17I070266 70266441 70266723 0.3 [{'connected_gene': 'KCNJ2', 'score': 26.1}, {'connected_gene': 'GC17P070276', 'score': 0.39}, {'connected_gene': 'CALM2P1', 'score': 0.31}]
chr17 GH17I070344 70344001 70345040 0.99 [{'connected_gene': 'KCNJ2', 'score': 15.07}, {'connected_gene': 'GC17P070324', 'score': 0.37}, {'connected_gene': 'ENSG00000267109', 'score': 0.34}]
chr17 GH17I070364 70364790 70365961 1.21 [{'connected_gene': 'KCNJ2', 'score': 13.41}, {'connected_gene': 'ENSG00000267109', 'score': 0.77}, {'connected_gene': 'GC17P070324', 'score': 0.26}]
chr17 GH17I070289 70289401 70289800 0.2 [{'connected_gene': 'KCNJ2', 'score': 6.02}, {'connected_gene': 'GC17P070294', 'score': 0.44}, {'connected_gene': 'GC17P070276', 'score': 0.39}]
chr17 GH17I070527 70527001 70527889 0.87 [{'connected_gene': 'KCNJ2', 'score': 8.32}, {'connected_gene': 'GC17M070495', 'score': 0.29}, {'connected_gene': 'PIR58465', 'score': 0.29}, {'connected_gene': 'PIR37193', 'score': 0.25}]
chr17 GH17I070290 70290148 70290563 0.31 [{'connected_gene': 'KCNJ2', 'score': 19.55}, {'connected_gene': 'GC17P070294', 'score': 0.77}, {'connected_gene': 'GC17P070276', 'score': 0.39}]
chr17 GH17I070343 70343169 70343461 0.37 [{'connected_gene': 'KCNJ2', 'score': 13.87}, {'connected_gene': 'GC17P070324', 'score': 0.37}, {'connected_gene': 'ENSG00000267109', 'score': 0.31}]
chr17 GH17I070288 70288555 70289024 0.51 [{'connected_gene': 'KCNJ2', 'score': 24.49}, {'connected_gene': 'GC17P070294', 'score': 0.44}, {'connected_gene': 'GC17P070276', 'score': 0.39}]
chr17 GH17I070292 70292549 70292693 0.39 [{'connected_gene': 'KCNJ2', 'score': 14.5}, {'connected_gene': 'GC17P070294', 'score': 0.77}, {'connected_gene': 'GC17M070291', 'score': 0.39}, {'connected_gene': 'GC17P070276', 'score': 0.37}]
chr17 GH17I070313 70313058 70315199 1.12 [{'connected_gene': 'KCNJ2', 'score': 23.75}, {'connected_gene': 'GC17M070291', 'score': 0.44}, {'connected_gene': 'GC17P070324', 'score': 0.39}, {'connected_gene': 'ENSG00000267109', 'score': 0.23}]
chr17 GH17I070298 70298933 70299540 0.78 [{'connected_gene': 'KCNJ2', 'score': 21.44}, {'connected_gene': 'ENSG00000267194', 'score': 5.95}, {'connected_gene': 'GC17P070294', 'score': 0.77}, {'connected_gene': 'GC17M070291', 'score': 0.44}]
chr17 GH17I070286 70286232 70286820 0.24 [{'connected_gene': 'KCNJ2', 'score': 27.07}, {'connected_gene': 'GC17P070294', 'score': 0.44}, {'connected_gene': 'GC17P070276', 'score': 0.44}]
chr17 GH17I070156 70156643 70161344 0.46 [{'connected_gene': 'LOC105371882', 'score': 550.77}, {'connected_gene': 'LOC105371881', 'score': 11.24}, {'connected_gene': 'KCNJ2-AS1', 'score': 6.26}, {'connected_gene': 'KCNJ2', 'score': 0.44}]
chr17 GH17I070164 70164115 70166147 0.31 [{'connected_gene': 'LOC105371881', 'score': 10.96}, {'connected_gene': 'KCNJ2-AS1', 'score': 6.42}, {'connected_gene': 'KCNJ2', 'score': 0.77}, {'connected_gene': 'GC17M070164', 'score': 0.77}, {'connected_gene': 'LOC105371882', 'score': 0.44}]
chr17 GH17I070173 70173008 70174642 0.52 [{'connected_gene': 'GC17M070172', 'score': 550.77}, {'connected_gene': 'KCNJ2-AS1', 'score': 7.05}, {'connected_gene': 'KCNJ2', 'score': 0.44}, {'connected_gene': 'CALM2P1', 'score': 0.2}]
chr17 GH17I069759 69759966 69765234 1.28 [{'connected_gene': 'GC17P069764', 'score': 550.77}, {'connected_gene': 'KCNJ2', 'score': 8.85}, {'connected_gene': 'GC17M069737', 'score': 0.34}, {'connected_gene': 'LINC01483', 'score': 0.09}]
chr17 GH17I070296 70295952 70296354 0.33 [{'connected_gene': 'GC17P070294', 'score': 550.77}, {'connected_gene': 'KCNJ2', 'score': 18.44}, {'connected_gene': 'GC17M070291', 'score': 0.44}]
chr17 GH17I070295 70295001 70295858 0.6 [{'connected_gene': 'GC17P070294', 'score': 550.77}, {'connected_gene': 'KCNJ2', 'score': 26.29}, {'connected_gene': 'GC17M070291', 'score': 0.44}]