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
ENST00000219235 [[57392683, 57392801], [57394348, 57394472], [57397415, 57400102]] [[57392728, 57392801], [57394348, 57394472], [57397415, 57397500]]
NM_002990 [[57392694, 57392801], [57394348, 57394472], [57397415, 57400102]] [[57392728, 57392801], [57394348, 57394472], [57397415, 57397500]]
Promoter
Chrom Start End Description
chr16 57392687 57392702 CAGE_peak_1_at_CCL22_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I057078 57078742 57080342 0.2 [{'connected_gene': 'FAM192A', 'score': 10.92}, {'connected_gene': 'RSPRY1', 'score': 10.92}, {'connected_gene': 'CCL22', 'score': 5.14}, {'connected_gene': 'ENSG00000260148', 'score': 0.39}, {'connected_gene': 'ENSG00000260145', 'score': 0.34}, {'connected_gene': 'NLRC5', 'score': 0.16}]
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 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 GH16I057357 57357523 57358570 0.74 [{'connected_gene': 'CCL22', 'score': 550.77}, {'connected_gene': 'CIAPIN1', 'score': 7.28}, {'connected_gene': 'POLR2C', 'score': 4.89}, {'connected_gene': 'PLLP', 'score': 4.71}, {'connected_gene': 'ENSG00000271456', 'score': 0.31}, {'connected_gene': 'GC16M057308', 'score': 0.29}]
chr16 GH16I057360 57358801 57359200 0.6 [{'connected_gene': 'CCL22', 'score': 550.77}, {'connected_gene': 'DOK4', 'score': 7.34}, {'connected_gene': 'COQ9', 'score': 4.95}, {'connected_gene': 'GC16P057369', 'score': 0.44}, {'connected_gene': 'GC16M057308', 'score': 0.29}]
chr16 GH16I057358 57358734 57358793 0.89 [{'connected_gene': 'CCL22', 'score': 550.77}, {'connected_gene': 'ENSG00000271456', 'score': 0.31}, {'connected_gene': 'GC16M057308', 'score': 0.29}]
chr16 GH16I057359 57358589 57358668 0.59 [{'connected_gene': 'CCL22', 'score': 550.77}, {'connected_gene': 'ENSG00000271456', 'score': 0.31}, {'connected_gene': 'GC16M057308', 'score': 0.29}]
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 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 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 GH16I057390 57390709 57390858 0.31 [{'connected_gene': 'GC16M057308', 'score': 550.77}, {'connected_gene': 'GC16M057389', 'score': 550.77}, {'connected_gene': 'CCL22', 'score': 13.31}, {'connected_gene': 'CCL17', 'score': 0.44}]
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}]