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
ENST00000338965 [[17373272, 17373586], [17378197, 17378548], [17388555, 17388894], [17390413, 17390511], [17393552, 17398888]] [[17373516, 17373586], [17378197, 17378548], [17388555, 17388894], [17390413, 17390511], [17393552, 17394059]]
ENST00000530403 [[17373445, 17373586], [17378197, 17378548], [17388555, 17388894], [17390413, 17390511], [17393552, 17395021], [17395170, 17395201]] [[17373516, 17373586], [17378197, 17378548], [17388555, 17388894], [17390413, 17390511], [17393552, 17394059]]
NM_001202439 [[17373308, 17373586], [17378197, 17378548], [17388555, 17388894], [17390413, 17390511], [17393552, 17398868]] [[17373516, 17373586], [17378197, 17378548], [17388555, 17388894], [17390413, 17390511], [17393552, 17394059]]
Promoter
Chrom Start End Description
chr11 17373293 17373324 CAGE_peak_3_at_B7H6_5end
chr11 17373338 17373356 CAGE_peak_2_at_B7H6_5end
chr11 17373513 17373572 CAGE_peak_1_at_B7H6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I017388 17388601 17390275 2.1 [{'connected_gene': 'KCNJ11', 'score': 570.53}, {'connected_gene': 'NCR3LG1', 'score': 18.24}, {'connected_gene': 'RPS13', 'score': 9.48}, {'connected_gene': 'GC11P017387', 'score': 0.77}, {'connected_gene': 'GC11P017401', 'score': 0.39}]
chr11 GH11I017354 17354774 17354923 0.72 [{'connected_gene': 'KCNJ11', 'score': 12.26}, {'connected_gene': 'LOC105376576', 'score': 0.77}, {'connected_gene': 'NCR3LG1', 'score': 0.77}, {'connected_gene': 'PIR55310', 'score': 0.37}]
chr11 GH11I017402 17402331 17403355 0.38 [{'connected_gene': 'NCR3LG1', 'score': 19.19}, {'connected_gene': 'ABCC8', 'score': 11.0}, {'connected_gene': 'RPS13', 'score': 5.18}, {'connected_gene': 'GC11P017401', 'score': 0.77}, {'connected_gene': 'GC11P017408', 'score': 0.44}]
chr11 GH11I017313 17313131 17315091 1.2 [{'connected_gene': 'NCR3LG1', 'score': 34.28}, {'connected_gene': 'RPS13', 'score': 19.42}, {'connected_gene': 'SNORD14B', 'score': 9.52}, {'connected_gene': 'GC11P017338', 'score': 0.34}, {'connected_gene': 'GC11M017256', 'score': 0.22}, {'connected_gene': 'NUCB2', 'score': 0.14}]
chr11 GH11I017280 17280601 17280800 0.91 [{'connected_gene': 'NCR3LG1', 'score': 8.87}, {'connected_gene': 'GC11M017256', 'score': 0.34}, {'connected_gene': 'GC11P017338', 'score': 0.22}, {'connected_gene': 'NUCB2', 'score': 0.19}]
chr11 GH11I017383 17383634 17383803 0.58 [{'connected_gene': 'NCR3LG1', 'score': 27.65}, {'connected_gene': 'KCNJ11', 'score': 16.34}, {'connected_gene': 'GC11M017380', 'score': 0.77}, {'connected_gene': 'GC11P017387', 'score': 0.77}]
chr11 GH11I017350 17350929 17351078 0.4 [{'connected_gene': 'NCR3LG1', 'score': 569.83}, {'connected_gene': 'LOC105376576', 'score': 550.77}, {'connected_gene': 'RPS13', 'score': 1.25}, {'connected_gene': 'GC11P017338', 'score': 0.39}]
chr11 GH11I017351 17351285 17354763 2.39 [{'connected_gene': 'NCR3LG1', 'score': 604.95}, {'connected_gene': 'LOC105376576', 'score': 550.77}, {'connected_gene': 'KCNJ11', 'score': 24.2}, {'connected_gene': 'RPS13', 'score': 1.29}, {'connected_gene': 'PIR55310', 'score': 0.37}]
chr11 GH11I017267 17267600 17267843 0.9 [{'connected_gene': 'OR7E14P', 'score': 20.91}, {'connected_gene': 'NCR3LG1', 'score': 10.32}, {'connected_gene': 'GC11M017256', 'score': 0.44}, {'connected_gene': 'NUCB2', 'score': 0.22}, {'connected_gene': 'GC11P017338', 'score': 0.19}]
chr11 GH11I017385 17385737 17387343 1.12 [{'connected_gene': 'GC11P017387', 'score': 550.77}, {'connected_gene': 'KCNJ11', 'score': 19.75}, {'connected_gene': 'NCR3LG1', 'score': 14.59}, {'connected_gene': 'GC11M017380', 'score': 0.77}]
chr11 GH11I017399 17399806 17400853 0.43 [{'connected_gene': 'GC11P017401', 'score': 550.77}, {'connected_gene': 'NCR3LG1', 'score': 19.27}, {'connected_gene': 'ENSG00000260196', 'score': 11.72}, {'connected_gene': 'ABCC8', 'score': 11.34}, {'connected_gene': 'KCNJ11', 'score': 6.43}, {'connected_gene': 'RPS13', 'score': 5.31}, {'connected_gene': 'GC11P017408', 'score': 0.44}]
chr11 GH11I017401 17401109 17401509 0.4 [{'connected_gene': 'GC11P017401', 'score': 550.77}, {'connected_gene': 'NCR3LG1', 'score': 19.88}, {'connected_gene': 'ABCC8', 'score': 11.34}, {'connected_gene': 'GC11P017408', 'score': 0.44}]
chr11 GH11I017344 17344014 17344183 0.38 [{'connected_gene': 'GC11P017338', 'score': 0.44}, {'connected_gene': 'NCR3LG1', 'score': 0.44}, {'connected_gene': 'NUCB2', 'score': 0.12}]
chr11 GH11I017381 17381007 17381943 0.2 [{'connected_gene': 'GC11P017379', 'score': 550.77}, {'connected_gene': 'GC11M017380', 'score': 550.77}, {'connected_gene': 'ENSG00000260196', 'score': 550.77}, {'connected_gene': 'NCR3LG1', 'score': 26.18}, {'connected_gene': 'KCNJ11', 'score': 0.44}]