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
ENST00000006053 [[57406369, 57406550], [57413545, 57413666], [57415941, 57418960]] [[57406480, 57406550], [57413545, 57413666], [57415941, 57416944]]
ENST00000563383 [[57406388, 57406550], [57413527, 57413666], [57415941, 57418953]] [[57406480, 57406550], [57413527, 57413666], [57415941, 57416944]]
ENST00000564948 [[57406436, 57406550], [57415941, 57416390]] [[57406480, 57406550], [57415941, 57416039]]
ENST00000565912 [[57410883, 57413666], [57415941, 57418954]] [[57413589, 57413666], [57415941, 57416944]]
NM_001304392 [[57406372, 57406550], [57415941, 57418960]] [[57416005, 57416944]]
NM_002996 [[57406372, 57406550], [57413545, 57413666], [57415941, 57418960]] [[57406480, 57406550], [57413545, 57413666], [57415941, 57416944]]
Promoter
Chrom Start End Description
chr16 57406368 57406392 CAGE_peak_2_at_CX3CL1_5end
chr16 57406393 57406411 CAGE_peak_1_at_CX3CL1_5end
chr16 57406456 57406465 CAGE_peak_3_at_CX3CL1_5end
chr16 57416881 57416890 CAGE_peak_4_at_CX3CL1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I057633 57633289 57640276 1.94 [{'connected_gene': 'ADGRG1', 'score': 568.62}, {'connected_gene': 'ADGRG3', 'score': 11.85}, {'connected_gene': 'CCL17', 'score': 5.26}, {'connected_gene': 'PLLP', 'score': 2.11}, {'connected_gene': 'CX3CL1', 'score': 1.31}, {'connected_gene': 'GC16M057629', 'score': 0.77}, {'connected_gene': 'GC16P057639', 'score': 0.77}]
chr16 GH16I057392 57392355 57393447 0.31 [{'connected_gene': 'CX3CL1', 'score': 12.76}, {'connected_gene': 'CCL22', 'score': 12.71}, {'connected_gene': 'PLLP', 'score': 10.64}, {'connected_gene': 'DOK4', 'score': 6.33}, {'connected_gene': 'CIAPIN1', 'score': 5.58}, {'connected_gene': 'COQ9', 'score': 4.93}, {'connected_gene': 'GC16M057389', 'score': 0.77}, {'connected_gene': 'CCL17', 'score': 0.77}]
chr16 GH16I057342 57340189 57340253 0.49 [{'connected_gene': 'CX3CL1', 'score': 12.15}, {'connected_gene': 'ENSG00000271456', 'score': 0.44}, {'connected_gene': 'CCL22', 'score': 0.37}, {'connected_gene': 'GC16M057308', 'score': 0.25}]
chr16 GH16I057339 57339485 57340149 0.98 [{'connected_gene': 'CX3CL1', 'score': 12.15}, {'connected_gene': 'ENSG00000271456', 'score': 0.44}, {'connected_gene': 'CCL22', 'score': 0.37}, {'connected_gene': 'GC16M057308', 'score': 0.25}]
chr16 GH16I057340 57339201 57339400 0.38 [{'connected_gene': 'CX3CL1', 'score': 12.15}, {'connected_gene': 'ENSG00000271456', 'score': 0.44}, {'connected_gene': 'CCL22', 'score': 0.37}, {'connected_gene': 'GC16M057308', 'score': 0.25}]
chr16 GH16I057341 57340777 57342378 1 [{'connected_gene': 'CX3CL1', 'score': 17.03}, {'connected_gene': 'CIAPIN1', 'score': 11.3}, {'connected_gene': 'RSPRY1', 'score': 10.66}, {'connected_gene': 'CNGB1', 'score': 8.82}, {'connected_gene': 'ENSG00000271456', 'score': 0.44}, {'connected_gene': 'CCL22', 'score': 0.37}, {'connected_gene': 'GC16M057308', 'score': 0.25}]
chr16 GH16I057371 57371350 57374770 2.15 [{'connected_gene': 'CX3CL1', 'score': 550.77}, {'connected_gene': 'CIAPIN1', 'score': 12.26}, {'connected_gene': 'GC16M057308', 'score': 0.37}]
chr16 GH16I057376 57376925 57379051 1.05 [{'connected_gene': 'CX3CL1', 'score': 0.44}, {'connected_gene': 'GC16M057308', 'score': 0.39}]
chr16 GH16I057306 57306505 57308408 0.46 [{'connected_gene': 'CCL22', 'score': 12.04}, {'connected_gene': 'CX3CL1', 'score': 12.01}, {'connected_gene': 'PLLP', 'score': 11.72}, {'connected_gene': 'ARL2BP', 'score': 10.39}, {'connected_gene': 'ENSG00000261114', 'score': 5.94}, {'connected_gene': 'TRL-CAG2-2', 'score': 0.44}, {'connected_gene': 'RPL23AP91', 'score': 0.39}, {'connected_gene': 'GC16M057308', 'score': 0.18}]
chr16 GH16I057303 57303574 57305811 1.35 [{'connected_gene': 'CCL22', 'score': 12.04}, {'connected_gene': 'CX3CL1', 'score': 12.01}, {'connected_gene': 'PLLP', 'score': 11.72}, {'connected_gene': 'ARL2BP', 'score': 10.68}, {'connected_gene': 'TRL-CAG2-2', 'score': 0.77}, {'connected_gene': 'RPL23AP91', 'score': 0.37}]
chr16 GH16I057343 57343301 57344000 0.9 [{'connected_gene': 'CCL22', 'score': 33.76}, {'connected_gene': 'CX3CL1', 'score': 13.03}, {'connected_gene': 'LOC105371286', 'score': 5.8}, {'connected_gene': 'ENSG00000271456', 'score': 0.39}, {'connected_gene': 'GC16M057308', 'score': 0.25}]
chr16 GH16I057413 57413079 57414118 1.06 [{'connected_gene': 'CCL17', 'score': 550.37}, {'connected_gene': 'PLLP', 'score': 11.77}, {'connected_gene': 'CX3CL1', 'score': 11.55}, {'connected_gene': 'CCL22', 'score': 11.52}, {'connected_gene': 'COQ9', 'score': 5.0}, {'connected_gene': 'GC16P057430', 'score': 0.37}]
chr16 GH16I057394 57394169 57395019 0.92 [{'connected_gene': 'CCL17', 'score': 555.98}, {'connected_gene': 'NUDT21', 'score': 20.29}, {'connected_gene': 'CX3CL1', 'score': 12.76}, {'connected_gene': 'CCL22', 'score': 12.7}, {'connected_gene': 'PLLP', 'score': 11.12}, {'connected_gene': 'CNGB1', 'score': 9.37}, {'connected_gene': 'ADGRG1', 'score': 1.35}, {'connected_gene': 'GC16M057389', 'score': 0.77}]
chr16 GH16I057380 57380669 57381492 0.8 [{'connected_gene': 'CIAPIN1', 'score': 10.22}, {'connected_gene': 'GC16M057308', 'score': 0.44}, {'connected_gene': 'CX3CL1', 'score': 0.44}]
chr16 GH16I057386 57386042 57386903 0.43 [{'connected_gene': 'CIAPIN1', 'score': 14.91}, {'connected_gene': 'CCL22', 'score': 13.33}, {'connected_gene': 'PLLP', 'score': 10.76}, {'connected_gene': 'GC16M057308', 'score': 0.77}, {'connected_gene': 'CX3CL1', 'score': 0.39}]
chr16 GH16I057416 57416107 57419785 1.18 [{'connected_gene': 'CIAPIN1', 'score': 15.43}, {'connected_gene': 'NUDT21', 'score': 12.22}, {'connected_gene': 'CX3CL1', 'score': 11.84}, {'connected_gene': 'CCL22', 'score': 11.81}, {'connected_gene': 'PLLP', 'score': 11.76}, {'connected_gene': 'POLR2C', 'score': 11.37}, {'connected_gene': 'ARL2BP', 'score': 10.87}, {'connected_gene': 'GC16P057430', 'score': 0.39}, {'connected_gene': 'CCL17', 'score': 0.34}]
chr16 GH16I057482 57482163 57487479 2.22 [{'connected_gene': 'DOK4', 'score': 563.38}, {'connected_gene': 'CIAPIN1', 'score': 21.15}, {'connected_gene': 'COQ9', 'score': 20.29}, {'connected_gene': 'LOC105371286', 'score': 13.11}, {'connected_gene': 'POLR2C', 'score': 12.07}, {'connected_gene': 'CX3CL1', 'score': 10.1}, {'connected_gene': 'CCL22', 'score': 10.09}, {'connected_gene': 'USB1', 'score': 6.55}, {'connected_gene': 'PIR51542', 'score': 0.37}]
chr16 GH16I057434 57434069 57434218 0.2 [{'connected_gene': 'DOK4', 'score': 11.85}, {'connected_gene': 'POLR2C', 'score': 11.84}, {'connected_gene': 'CX3CL1', 'score': 10.84}, {'connected_gene': 'CCL22', 'score': 10.81}, {'connected_gene': 'ARL2BP', 'score': 10.08}, {'connected_gene': 'GC16P057430', 'score': 0.77}, {'connected_gene': 'GC16P057442', 'score': 0.44}, {'connected_gene': 'CIAPIN1', 'score': 0.39}]
chr16 GH16I057235 57235534 57236340 0.76 [{'connected_gene': 'PLLP', 'score': 27.64}, {'connected_gene': 'FAM192A', 'score': 11.53}, {'connected_gene': 'RSPRY1', 'score': 11.53}, {'connected_gene': 'CCL22', 'score': 10.74}, {'connected_gene': 'CX3CL1', 'score': 10.73}, {'connected_gene': 'ARL2BP', 'score': 0.44}]
chr16 GH16I057234 57234890 57235475 0.38 [{'connected_gene': 'PLLP', 'score': 11.65}, {'connected_gene': 'FAM192A', 'score': 11.53}, {'connected_gene': 'RSPRY1', 'score': 11.53}, {'connected_gene': 'CCL22', 'score': 10.74}, {'connected_gene': 'CX3CL1', 'score': 10.73}, {'connected_gene': 'ARL2BP', 'score': 0.44}]
chr16 GH16I057382 57382970 57385790 0.87 [{'connected_gene': 'PLLP', 'score': 10.68}, {'connected_gene': 'DOK4', 'score': 7.75}, {'connected_gene': 'CIAPIN1', 'score': 6.67}, {'connected_gene': 'GC16M057308', 'score': 0.77}, {'connected_gene': 'CX3CL1', 'score': 0.39}]
chr16 GH16I057297 57297051 57297723 0.43 [{'connected_gene': 'ARL2BP', 'score': 11.65}, {'connected_gene': 'CCL22', 'score': 11.35}, {'connected_gene': 'CX3CL1', 'score': 11.32}, {'connected_gene': 'CIAPIN1', 'score': 10.86}, {'connected_gene': 'COQ9', 'score': 10.86}, {'connected_gene': 'POLR2C', 'score': 10.49}, {'connected_gene': 'MT1F', 'score': 5.21}, {'connected_gene': 'TRL-CAG2-1', 'score': 0.77}, {'connected_gene': 'PLLP', 'score': 0.39}]
chr16 GH16I057349 57349001 57349800 0.94 [{'connected_gene': 'NUDT21', 'score': 13.62}, {'connected_gene': 'CX3CL1', 'score': 5.4}, {'connected_gene': 'CCL22', 'score': 0.44}, {'connected_gene': 'ENSG00000271456', 'score': 0.37}, {'connected_gene': 'GC16M057308', 'score': 0.28}]
chr16 GH16I057299 57297929 57298502 1 [{'connected_gene': 'TRL-CAG2-1', 'score': 550.77}, {'connected_gene': 'ARL2BP', 'score': 11.65}, {'connected_gene': 'CCL22', 'score': 11.35}, {'connected_gene': 'CX3CL1', 'score': 11.33}, {'connected_gene': 'CIAPIN1', 'score': 10.87}, {'connected_gene': 'COQ9', 'score': 10.87}, {'connected_gene': 'POLR2C', 'score': 10.49}, {'connected_gene': 'PLLP', 'score': 0.39}]
chr16 GH16I057298 57298675 57301483 1.52 [{'connected_gene': 'TRL-CAG2-2', 'score': 550.77}, {'connected_gene': 'TRL-CAG2-1', 'score': 550.77}, {'connected_gene': 'RSPRY1', 'score': 26.99}, {'connected_gene': 'POLR2C', 'score': 22.24}, {'connected_gene': 'FAM192A', 'score': 14.45}, {'connected_gene': 'CSNK2A2', 'score': 12.03}, {'connected_gene': 'CCL22', 'score': 11.83}, {'connected_gene': 'CX3CL1', 'score': 11.8}, {'connected_gene': 'ARL2BP', 'score': 11.65}, {'connected_gene': 'CIAPIN1', 'score': 10.87}, {'connected_gene': 'COQ9', 'score': 10.87}, {'connected_gene': 'NUDT21', 'score': 10.59}, {'connected_gene': 'LOC101927556', 'score': 9.73}, {'connected_gene': 'PLLP', 'score': 6.74}, {'connected_gene': 'MT1F', 'score': 5.12}, {'connected_gene': 'GINS3', 'score': 4.98}]
chr16 GH16I057631 57631376 57633047 0.93 [{'connected_gene': 'GC16M057629', 'score': 550.77}, {'connected_gene': 'ENSG00000261633', 'score': 550.77}, {'connected_gene': 'ADGRG1', 'score': 14.02}, {'connected_gene': 'ADGRG3', 'score': 11.84}, {'connected_gene': 'PLLP', 'score': 6.45}, {'connected_gene': 'CX3CL1', 'score': 1.87}]
chr16 GH16I057379 57379409 57380335 0.65 [{'connected_gene': 'GC16M057308', 'score': 0.44}, {'connected_gene': 'CX3CL1', 'score': 0.44}]
chr16 GH16I057640 57640596 57640978 0.79 [{'connected_gene': 'GC16P057639', 'score': 550.77}, {'connected_gene': 'CNGB1', 'score': 9.19}, {'connected_gene': 'ADGRG1', 'score': 6.09}, {'connected_gene': 'PLLP', 'score': 5.59}, {'connected_gene': 'CX3CL1', 'score': 3.0}, {'connected_gene': 'GC16M057649', 'score': 0.37}]
chr16 GH16I057387 57387571 57388833 1.08 [{'connected_gene': 'GC16M057308', 'score': 550.77}, {'connected_gene': 'NUDT21', 'score': 24.01}, {'connected_gene': 'RSPRY1', 'score': 23.16}, {'connected_gene': 'LOC105371286', 'score': 22.41}, {'connected_gene': 'CCL22', 'score': 13.33}, {'connected_gene': 'LOC101927556', 'score': 13.2}, {'connected_gene': 'CIAPIN1', 'score': 11.77}, {'connected_gene': 'POLR2C', 'score': 10.01}, {'connected_gene': 'CFAP20', 'score': 9.93}, {'connected_gene': 'CCL17', 'score': 3.5}, {'connected_gene': 'CX3CL1', 'score': 0.37}]