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
ENST00000366621 [[233749749, 233750272], [233802340, 233802736], [233807016, 233808258]] [[233749917, 233750272], [233802340, 233802736], [233807016, 233807276]]
ENST00000472190 [[233765303, 233765660], [233802340, 233802736], [233807016, 233807445]] None
ENST00000366620 [[233765352, 233765660], [233766253, 233766549], [233767000, 233767033], [233802340, 233802736], [233807016, 233807984]] [[233767026, 233767033], [233802340, 233802736], [233807016, 233807276]]
ENST00000487728 [[233772269, 233772327], [233773033, 233773180], [233802340, 233802736]] None
ENST00000446915 [[233785686, 233785795], [233802340, 233802736], [233807016, 233807237]] [[233785686, 233785795], [233802340, 233802736], [233807016, 233807237]]
ENST00000472869 [[233791440, 233791547], [233796219, 233796412], [233797601, 233797682], [233802340, 233802432]] None
NM_002245 [[233749749, 233750272], [233802340, 233802736], [233807016, 233808258]] [[233749917, 233750272], [233802340, 233802736], [233807016, 233807276]]
Promoter
Chrom Start End Description
chr1 233749309 233749322 CAGE_peak_10_at_KCNK1_5end
chr1 233749347 233749411 CAGE_peak_2_at_KCNK1_5end
chr1 233749454 233749466 CAGE_peak_16_at_KCNK1_5end
chr1 233749556 233749570 CAGE_peak_6_at_KCNK1_5end
chr1 233749586 233749602 CAGE_peak_9_at_KCNK1_5end
chr1 233749712 233749731 CAGE_peak_3_at_KCNK1_5end
chr1 233749739 233749761 CAGE_peak_4_at_KCNK1_5end
chr1 233749836 233749859 CAGE_peak_5_at_KCNK1_5end
chr1 233749872 233749930 CAGE_peak_1_at_KCNK1_5end
chr1 233750113 233750125 CAGE_peak_8_at_KCNK1_5end
chr1 233750141 233750152 CAGE_peak_11_at_KCNK1_5end
chr1 233765375 233765391 CAGE_peak_14_at_KCNK1_5end
chr1 233765401 233765415 CAGE_peak_12_at_KCNK1_5end
chr1 233765422 233765439 CAGE_peak_13_at_KCNK1_5end
chr1 233765566 233765580 CAGE_peak_20_at_KCNK1_5end
chr1 233791439 233791444 CAGE_peak_7_at_KCNK1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I233635 233635291 233636916 1.1 [{'connected_gene': 'RPS7P3', 'score': 60.21}, {'connected_gene': 'IRF2BP2', 'score': 42.87}, {'connected_gene': 'KCNK1', 'score': 18.9}, {'connected_gene': 'LOC101927765', 'score': 11.07}, {'connected_gene': 'NTPCR', 'score': 9.85}, {'connected_gene': 'MIR4427', 'score': 0.39}, {'connected_gene': 'GC01P233696', 'score': 0.22}]
chr1 GH01I233665 233665791 233666504 1.2 [{'connected_gene': 'RPS7P3', 'score': 11.23}, {'connected_gene': 'IRF2BP2', 'score': 11.09}, {'connected_gene': 'KCNK1', 'score': 6.23}, {'connected_gene': 'GC01P233696', 'score': 0.31}, {'connected_gene': 'MIR4427', 'score': 0.26}]
chr1 GH01I233667 233667932 233669795 1.17 [{'connected_gene': 'KCNK1', 'score': 28.83}, {'connected_gene': 'TARBP1', 'score': 10.73}, {'connected_gene': 'GC01P233696', 'score': 0.31}, {'connected_gene': 'MIR4427', 'score': 0.26}]
chr1 GH01I233720 233720978 233721330 0.78 [{'connected_gene': 'KCNK1', 'score': 24.13}, {'connected_gene': 'TARBP1', 'score': 10.73}, {'connected_gene': 'GC01P233727', 'score': 0.44}, {'connected_gene': 'GC01M233697', 'score': 0.34}]
chr1 GH01I233613 233613182 233616424 2.67 [{'connected_gene': 'KCNK1', 'score': 558.65}, {'connected_gene': 'IRF2BP2', 'score': 16.5}, {'connected_gene': 'PCNX2', 'score': 12.82}, {'connected_gene': 'RPS7P3', 'score': 10.71}, {'connected_gene': 'MIR4427', 'score': 0.44}]
chr1 GH01I233627 233627561 233627629 0.39 [{'connected_gene': 'KCNK1', 'score': 8.33}, {'connected_gene': 'MIR4427', 'score': 0.77}, {'connected_gene': 'GC01P233696', 'score': 0.2}]
chr1 GH01I233670 233670690 233672056 0.46 [{'connected_gene': 'KCNK1', 'score': 6.54}, {'connected_gene': 'GC01P233696', 'score': 0.34}, {'connected_gene': 'MIR4427', 'score': 0.25}]
chr1 GH01I233638 233638444 233640273 0.54 [{'connected_gene': 'KCNK1', 'score': 16.88}, {'connected_gene': 'MIR4427', 'score': 0.37}, {'connected_gene': 'GC01P233696', 'score': 0.22}]
chr1 GH01I233646 233646460 233648389 0.43 [{'connected_gene': 'KCNK1', 'score': 17.49}, {'connected_gene': 'MIR4427', 'score': 0.34}, {'connected_gene': 'GC01P233696', 'score': 0.25}]
chr1 GH01I233660 233660765 233663255 0.38 [{'connected_gene': 'KCNK1', 'score': 17.78}, {'connected_gene': 'GC01P233696', 'score': 0.29}, {'connected_gene': 'MIR4427', 'score': 0.28}]
chr1 GH01I233649 233649600 233653728 0.43 [{'connected_gene': 'KCNK1', 'score': 17.82}, {'connected_gene': 'MIR4427', 'score': 0.31}, {'connected_gene': 'GC01P233696', 'score': 0.26}]
chr1 GH01I233672 233672675 233675162 1.33 [{'connected_gene': 'KCNK1', 'score': 16.2}, {'connected_gene': 'GC01P233696', 'score': 0.34}, {'connected_gene': 'MIR4427', 'score': 0.25}]
chr1 GH01I233654 233654479 233656924 1.06 [{'connected_gene': 'KCNK1', 'score': 25.59}, {'connected_gene': 'MIR4427', 'score': 0.29}, {'connected_gene': 'GC01P233696', 'score': 0.26}]
chr1 GH01I233616 233616747 233618074 0.43 [{'connected_gene': 'KCNK1', 'score': 0.77}, {'connected_gene': 'MIR4427', 'score': 0.44}]
chr1 GH01I233734 233734339 233737227 0.66 [{'connected_gene': 'KCNK1', 'score': 9.4}, {'connected_gene': 'GC01P233727', 'score': 0.44}, {'connected_gene': 'GC01P233751', 'score': 0.37}, {'connected_gene': 'GC01M233735', 'score': 0.31}]
chr1 GH01I233706 233706283 233708827 1.2 [{'connected_gene': 'KCNK1', 'score': 5.28}, {'connected_gene': 'GC01M233697', 'score': 0.44}, {'connected_gene': 'GC01P233696', 'score': 0.39}, {'connected_gene': 'GC01P233727', 'score': 0.37}]
chr1 GH01I233588 233588201 233588400 0.59 [{'connected_gene': 'KCNK1', 'score': 13.01}, {'connected_gene': 'GC01M233527', 'score': 0.22}]
chr1 GH01I233607 233607595 233607744 0.57 [{'connected_gene': 'KCNK1', 'score': 0.44}, {'connected_gene': 'GC01M233527', 'score': 0.19}]
chr1 GH01I233542 233542798 233544713 1.13 [{'connected_gene': 'LOC101927765', 'score': 11.07}, {'connected_gene': 'GC01M233527', 'score': 0.39}, {'connected_gene': 'KCNK1', 'score': 0.19}]
chr1 GH01I233629 233629129 233633438 0.56 [{'connected_gene': 'MIR4427', 'score': 0.44}, {'connected_gene': 'KCNK1', 'score': 0.37}, {'connected_gene': 'GC01P233696', 'score': 0.21}]
chr1 GH01I233625 233625263 233626815 0.74 [{'connected_gene': 'MIR4427', 'score': 550.77}, {'connected_gene': 'KCNK1', 'score': 0.39}, {'connected_gene': 'GC01P233696', 'score': 0.2}]