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
ENST00000376215 [[26986587, 26986769], [26991090, 26991123], [26993605, 26993670], [26994214, 26994323], [26998566, 26998697], [27009146, 27009288], [27012734, 27012846], [27012942, 27013052], [27024168, 27024249], [27024394, 27024508], [27031425, 27031506], [27035261, 27035727]] [[26986640, 26986769], [26991090, 26991123], [26993605, 26993670], [26994214, 26994323], [26998566, 26998697], [27009146, 27009288], [27012734, 27012846], [27012942, 27013052], [27024168, 27024249], [27024394, 27024508], [27031425, 27031506], [27035261, 27035402]]
ENST00000376203 [[26986594, 26986769], [26991090, 26991123], [26993605, 26993670], [26994214, 26994323], [26998566, 26998697], [27009146, 27009288], [27012734, 27012846], [27012942, 27013056], [27031425, 27031506], [27035261, 27035724]] [[26986640, 26986769], [26991090, 26991123], [26993605, 26993670], [26994214, 26994323], [26998566, 26998697], [27009146, 27009288], [27012734, 27012846], [27012942, 27013056], [27031425, 27031506], [27035261, 27035266]]
ENST00000473224 [[26994236, 26994323], [26998566, 26998697], [27009063, 27009288], [27012734, 27012846], [27012942, 27012948]] None
ENST00000491711 [[27009271, 27009288], [27012734, 27012846], [27012942, 27013052], [27024168, 27024249], [27024394, 27024508], [27029573, 27029746], [27031425, 27031506], [27035261, 27035470]] [[27009271, 27009288], [27012734, 27012846], [27012942, 27013052], [27024168, 27024249], [27024394, 27024508], [27029573, 27029615]]
ENST00000470978 [[27023579, 27023652], [27024168, 27024249], [27024394, 27024508], [27031425, 27031506], [27035261, 27035711]] None
NM_014317 [[26986352, 26986769], [26991090, 26991123], [26993605, 26993670], [26994214, 26994323], [26998566, 26998697], [27009146, 27009288], [27012734, 27012846], [27012942, 27013052], [27024168, 27024249], [27024394, 27024508], [27031425, 27031506], [27035261, 27035727]] [[26986640, 26986769], [26991090, 26991123], [26993605, 26993670], [26994214, 26994323], [26998566, 26998697], [27009146, 27009288], [27012734, 27012846], [27012942, 27013052], [27024168, 27024249], [27024394, 27024508], [27031425, 27031506], [27035261, 27035402]]
NM_001321978 [[26986352, 26986769], [26991090, 26991123], [26993605, 26993670], [26994214, 26994323], [26998566, 26998697], [27009146, 27009288], [27012734, 27012846], [27012942, 27013056], [27031425, 27031506], [27035261, 27035727]] [[26986640, 26986769], [26991090, 26991123], [26993605, 26993670], [26994214, 26994323], [26998566, 26998697], [27009146, 27009288], [27012734, 27012846], [27012942, 27013056], [27031425, 27031506], [27035261, 27035266]]
NM_001321979 [[26986352, 26986769], [26991090, 26991123], [26993605, 26993670], [26994214, 26994323], [26998566, 26998697], [27009063, 27009288], [27012734, 27012846], [27012942, 27013052], [27024168, 27024249], [27024394, 27024508], [27031425, 27031506], [27035261, 27035727]] [[27009189, 27009288], [27012734, 27012846], [27012942, 27013052], [27024168, 27024249], [27024394, 27024508], [27031425, 27031506], [27035261, 27035402]]
Promoter
Chrom Start End Description
chr10 26986102 26986129 CAGE_peak_4_at_PDSS1_5end
chr10 26986138 26986149 CAGE_peak_10_at_PDSS1_5end
chr10 26986180 26986208 CAGE_peak_5_at_PDSS1_5end
chr10 26986212 26986230 CAGE_peak_6_at_PDSS1_5end
chr10 26986245 26986254 CAGE_peak_11_at_PDSS1_5end
chr10 26986285 26986293 CAGE_peak_8_at_PDSS1_5end
chr10 26986294 26986310 CAGE_peak_2_at_PDSS1_5end
chr10 26986374 26986414 CAGE_peak_3_at_PDSS1_5end
chr10 26986582 26986640 CAGE_peak_1_at_PDSS1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I026479 26479202 26490122 1.58 [{'connected_gene': 'APBB1IP', 'score': 18.23}, {'connected_gene': 'YME1L1', 'score': 9.66}, {'connected_gene': 'ABI1', 'score': 6.17}, {'connected_gene': 'PDSS1', 'score': 1.99}, {'connected_gene': 'GC10M026472', 'score': 0.44}, {'connected_gene': 'RNA5SP307', 'score': 0.34}]
chr10 GH10I026430 26430111 26431714 1.45 [{'connected_gene': 'APBB1IP', 'score': 28.95}, {'connected_gene': 'ABI1', 'score': 4.94}, {'connected_gene': 'PDSS1', 'score': 2.29}, {'connected_gene': 'GC10M026395', 'score': 0.28}, {'connected_gene': 'GC10M026396', 'score': 0.28}]
chr10 GH10I026690 26690682 26691086 0.31 [{'connected_gene': 'PDSS1', 'score': 67.27}, {'connected_gene': 'MASTL', 'score': 6.85}, {'connected_gene': 'ABI1', 'score': 5.63}, {'connected_gene': 'SELENOOLP', 'score': 0.37}, {'connected_gene': 'GC10M026672', 'score': 0.34}]
chr10 GH10I026685 26685401 26685759 0.42 [{'connected_gene': 'PDSS1', 'score': 41.13}, {'connected_gene': 'MASTL', 'score': 4.75}, {'connected_gene': 'ABI1', 'score': 3.17}, {'connected_gene': 'SELENOOLP', 'score': 0.44}, {'connected_gene': 'GC10M026672', 'score': 0.31}]
chr10 GH10I026691 26691855 26692049 0.27 [{'connected_gene': 'PDSS1', 'score': 50.25}, {'connected_gene': 'MASTL', 'score': 4.85}, {'connected_gene': 'ABI1', 'score': 3.71}, {'connected_gene': 'SELENOOLP', 'score': 0.37}, {'connected_gene': 'GC10M026672', 'score': 0.34}]
chr10 GH10I026700 26700292 26701974 0.46 [{'connected_gene': 'PDSS1', 'score': 23.34}, {'connected_gene': 'ANKRD26', 'score': 10.68}, {'connected_gene': 'FAM238B', 'score': 5.8}, {'connected_gene': 'ENSG00000279212', 'score': 0.77}, {'connected_gene': 'GC10M026672', 'score': 0.39}]
chr10 GH10I026681 26681801 26683998 0.96 [{'connected_gene': 'PDSS1', 'score': 24.26}, {'connected_gene': 'ABI1', 'score': 13.01}, {'connected_gene': 'MASTL', 'score': 2.25}, {'connected_gene': 'SELENOOLP', 'score': 0.44}, {'connected_gene': 'GC10M026672', 'score': 0.29}]
chr10 GH10I026689 26689512 26689661 0.2 [{'connected_gene': 'PDSS1', 'score': 23.75}, {'connected_gene': 'SELENOOLP', 'score': 0.39}, {'connected_gene': 'GC10M026672', 'score': 0.34}]
chr10 GH10I026665 26665289 26665685 0.64 [{'connected_gene': 'PDSS1', 'score': 7.98}, {'connected_gene': 'SELENOOLP', 'score': 0.39}, {'connected_gene': 'ENSG00000234296', 'score': 0.34}]
chr10 GH10I026696 26696641 26699353 2.02 [{'connected_gene': 'PDSS1', 'score': 573.97}, {'connected_gene': 'ENSG00000279212', 'score': 550.77}, {'connected_gene': 'GC10M026672', 'score': 0.37}]
chr10 GH10I026726 26726212 26726361 0.67 [{'connected_gene': 'PDSS1', 'score': 4.69}, {'connected_gene': 'ENSG00000235843', 'score': 0.44}, {'connected_gene': 'GC10P026755', 'score': 0.31}]
chr10 GH10I026699 26699932 26700081 0.31 [{'connected_gene': 'PDSS1', 'score': 0.77}, {'connected_gene': 'ENSG00000279212', 'score': 0.77}, {'connected_gene': 'GC10M026672', 'score': 0.39}]
chr10 GH10I026684 26684643 26685200 0.8 [{'connected_gene': 'PDSS1', 'score': 23.85}, {'connected_gene': 'SELENOOLP', 'score': 0.44}, {'connected_gene': 'GC10M026672', 'score': 0.31}]
chr10 GH10I026713 26713310 26717149 0.52 [{'connected_gene': 'HSPA8P3', 'score': 550.77}, {'connected_gene': 'GC10M026672', 'score': 550.77}, {'connected_gene': 'PDSS1', 'score': 7.4}, {'connected_gene': 'ENSG00000235843', 'score': 0.77}]
chr10 GH10I026778 26778756 26782951 1.43 [{'connected_gene': 'ABI1', 'score': 17.01}, {'connected_gene': 'MASTL', 'score': 7.09}, {'connected_gene': 'PDSS1', 'score': 6.66}, {'connected_gene': 'ACBD5', 'score': 2.73}, {'connected_gene': 'ENSG00000223027', 'score': 0.44}, {'connected_gene': 'GC10P026755', 'score': 0.31}, {'connected_gene': 'GC10M026780', 'score': 0.28}]
chr10 GH10I026856 26856715 26862150 2.57 [{'connected_gene': 'ABI1', 'score': 566.04}, {'connected_gene': 'MASTL', 'score': 17.91}, {'connected_gene': 'RNU6-946P', 'score': 11.7}, {'connected_gene': 'ENSG00000223027', 'score': 11.68}, {'connected_gene': 'PDSS1', 'score': 2.23}, {'connected_gene': 'ACBD5', 'score': 1.82}, {'connected_gene': 'APBB1IP', 'score': 1.18}, {'connected_gene': 'YME1L1', 'score': 1.17}, {'connected_gene': 'GC10P026852', 'score': 0.44}]
chr10 GH10I026407 26407512 26407793 0.7 [{'connected_gene': 'ABI1', 'score': 2.44}, {'connected_gene': 'PDSS1', 'score': 1.56}, {'connected_gene': 'APBB1IP', 'score': 1.41}, {'connected_gene': 'GC10M026395', 'score': 0.39}, {'connected_gene': 'GC10M026396', 'score': 0.39}]
chr10 GH10I026736 26736801 26740988 1.49 [{'connected_gene': 'ABI1', 'score': 21.57}, {'connected_gene': 'PDSS1', 'score': 13.81}, {'connected_gene': 'ENSG00000223027', 'score': 11.99}, {'connected_gene': 'RNU6-946P', 'score': 11.99}, {'connected_gene': 'MASTL', 'score': 8.38}, {'connected_gene': 'APBB1IP', 'score': 1.28}, {'connected_gene': 'GC10P026755', 'score': 0.37}, {'connected_gene': 'ENSG00000235843', 'score': 0.34}]
chr10 GH10I026721 26721000 26722303 0.31 [{'connected_gene': 'ABI1', 'score': 10.9}, {'connected_gene': 'RNU6-946P', 'score': 10.62}, {'connected_gene': 'ENSG00000223027', 'score': 10.62}, {'connected_gene': 'PDSS1', 'score': 7.02}, {'connected_gene': 'ENSG00000235843', 'score': 0.77}, {'connected_gene': 'GC10P026755', 'score': 0.29}]
chr10 GH10I026733 26733118 26735775 1.11 [{'connected_gene': 'ABI1', 'score': 11.48}, {'connected_gene': 'ENSG00000223027', 'score': 11.03}, {'connected_gene': 'RNU6-946P', 'score': 11.02}, {'connected_gene': 'ENSG00000235843', 'score': 0.37}, {'connected_gene': 'GC10P026755', 'score': 0.34}, {'connected_gene': 'PDSS1', 'score': 0.28}]
chr10 GH10I026745 26745109 26750477 0.38 [{'connected_gene': 'ABI1', 'score': 25.34}, {'connected_gene': 'RNU6-946P', 'score': 11.85}, {'connected_gene': 'ENSG00000223027', 'score': 11.85}, {'connected_gene': 'GC10P026755', 'score': 0.44}, {'connected_gene': 'ENSG00000235843', 'score': 0.29}, {'connected_gene': 'PDSS1', 'score': 0.23}]