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
ENST00000493899 [[64574192, 64574228], [64575620, 64575729], [64653266, 64653310], [64654216, 64654297], [64661354, 64661480], [64676720, 64676817], [64678860, 64678970], [64679577, 64679660]] None
ENST00000242480 [[64571755, 64574228], [64575620, 64576115]] [[64572966, 64574228], [64575620, 64575789]]
ENST00000411732 [[64571762, 64574228], [64575620, 64575729], [64575829, 64576126]] [[64572966, 64574228], [64575620, 64575639]]
ENST00000439032 [[64571762, 64574228], [64575620, 64575829], [64578300, 64578407], [64578865, 64578927]] [[64572966, 64574228], [64575620, 64575789]]
NM_000399 [[64571755, 64574228], [64575620, 64576140]] [[64572966, 64574228], [64575620, 64575789]]
NM_001136179 [[64571755, 64574228], [64575620, 64575729], [64575829, 64576140]] [[64572966, 64574228], [64575620, 64575639]]
NM_001136177 [[64571755, 64574228], [64575620, 64575829], [64576012, 64576140]] [[64572966, 64574228], [64575620, 64575789]]
NM_001321037 [[64571755, 64574228], [64575620, 64575729], [64576012, 64576140]] [[64572966, 64574228], [64575620, 64575639]]
NM_001136178 [[64571755, 64574228], [64575620, 64575829], [64578300, 64578407], [64578865, 64578927]] [[64572966, 64574228], [64575620, 64575789]]
Promoter
Chrom Start End Description
chr10 64575812 64575824 CAGE_peak_4_at_EGR2_5end
chr10 64576035 64576046 CAGE_peak_2_at_EGR2_5end
chr10 64576105 64576133 CAGE_peak_1_at_EGR2_5end
chr10 64578528 64578542 CAGE_peak_5_at_EGR2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I062652 62652497 62653656 1.23 [{'connected_gene': 'ADO', 'score': 11.25}, {'connected_gene': 'ENSG00000238280', 'score': 11.25}, {'connected_gene': 'EGR2', 'score': 4.03}, {'connected_gene': 'NRBF2', 'score': 1.58}, {'connected_gene': 'LOC105378327', 'score': 0.77}, {'connected_gene': 'GC10M062430', 'score': 0.08}, {'connected_gene': 'ZNF365', 'score': 0.06}]
chr10 GH10I062865 62865432 62867927 0.2 [{'connected_gene': 'ADO', 'score': 14.9}, {'connected_gene': 'EGR2', 'score': 11.23}, {'connected_gene': 'ENSG00000238280', 'score': 10.29}, {'connected_gene': 'GC10P062845', 'score': 0.34}]
chr10 GH10I062852 62852952 62854350 0.91 [{'connected_gene': 'ADO', 'score': 5.2}, {'connected_gene': 'GC10P062845', 'score': 0.44}, {'connected_gene': 'EGR2', 'score': 0.2}]
chr10 GH10I062915 62915833 62916937 0.69 [{'connected_gene': 'ADO', 'score': 7.57}, {'connected_gene': 'EGR2', 'score': 0.77}, {'connected_gene': 'GC10P062845', 'score': 0.19}]
chr10 GH10I062924 62924275 62925190 0.58 [{'connected_gene': 'ADO', 'score': 7.29}, {'connected_gene': 'EGR2', 'score': 0.77}, {'connected_gene': 'GC10P062931', 'score': 0.44}]
chr10 GH10I062611 62611584 62611693 0.24 [{'connected_gene': 'ADO', 'score': 11.21}, {'connected_gene': 'ENSG00000238280', 'score': 11.21}, {'connected_gene': 'RNU6-543P', 'score': 10.46}, {'connected_gene': 'EGR2', 'score': 5.29}, {'connected_gene': 'LOC105378327', 'score': 0.26}, {'connected_gene': 'GC10M062430', 'score': 0.1}, {'connected_gene': 'ZNF365', 'score': 0.07}]
chr10 GH10I062742 62742401 62742973 1.08 [{'connected_gene': 'ALDH7A1P4', 'score': 550.77}, {'connected_gene': 'EGR2', 'score': 32.24}, {'connected_gene': 'ADO', 'score': 23.83}, {'connected_gene': 'ENSG00000238280', 'score': 11.06}, {'connected_gene': 'NRBF2', 'score': 3.22}, {'connected_gene': 'GC10P062785', 'score': 0.26}]
chr10 GH10I063391 63391601 63392400 0.38 [{'connected_gene': 'MRPL35P2', 'score': 8.6}, {'connected_gene': 'EGR2', 'score': 4.97}, {'connected_gene': 'GC10P063381', 'score': 0.39}, {'connected_gene': 'PRELID1P3', 'score': 0.28}, {'connected_gene': 'JMJD1C', 'score': 0.13}]
chr10 GH10I062378 62378960 62388210 1.43 [{'connected_gene': 'ZNF365', 'score': 9.78}, {'connected_gene': 'EGR2', 'score': 1.62}, {'connected_gene': 'ARID5B', 'score': 1.21}, {'connected_gene': 'LOC283045', 'score': 0.44}, {'connected_gene': 'GC10M062430', 'score': 0.23}]
chr10 GH10I062869 62869044 62871873 0.74 [{'connected_gene': 'JMJD1C', 'score': 48.83}, {'connected_gene': 'ADO', 'score': 15.8}, {'connected_gene': 'EGR2', 'score': 11.36}, {'connected_gene': 'ENSG00000238280', 'score': 10.36}, {'connected_gene': 'GC10P062845', 'score': 0.31}]
chr10 GH10I062732 62732581 62734256 1.3 [{'connected_gene': 'EGR2', 'score': 30.49}, {'connected_gene': 'ADO', 'score': 22.96}, {'connected_gene': 'ENSG00000238280', 'score': 11.66}, {'connected_gene': 'NRBF2', 'score': 2.41}, {'connected_gene': 'ALDH7A1P4', 'score': 0.44}, {'connected_gene': 'LOC105378327', 'score': 0.18}]
chr10 GH10I062708 62708401 62709000 0.94 [{'connected_gene': 'EGR2', 'score': 29.79}, {'connected_gene': 'ADO', 'score': 11.0}, {'connected_gene': 'ENSG00000238280', 'score': 11.0}, {'connected_gene': 'NRBF2', 'score': 2.82}, {'connected_gene': 'ALDH7A1P4', 'score': 0.29}, {'connected_gene': 'LOC105378327', 'score': 0.23}]
chr10 GH10I062710 62710001 62710650 0.68 [{'connected_gene': 'EGR2', 'score': 36.62}, {'connected_gene': 'ADO', 'score': 11.01}, {'connected_gene': 'ENSG00000238280', 'score': 11.0}, {'connected_gene': 'NRBF2', 'score': 3.04}, {'connected_gene': 'ALDH7A1P4', 'score': 0.29}, {'connected_gene': 'LOC105378327', 'score': 0.23}]
chr10 GH10I062735 62735804 62736174 1.04 [{'connected_gene': 'EGR2', 'score': 38.81}, {'connected_gene': 'ADO', 'score': 11.37}, {'connected_gene': 'ENSG00000238280', 'score': 11.37}, {'connected_gene': 'NRBF2', 'score': 3.47}, {'connected_gene': 'ALDH7A1P4', 'score': 0.44}, {'connected_gene': 'LOC105378327', 'score': 0.18}]
chr10 GH10I062728 62728668 62728826 0.42 [{'connected_gene': 'EGR2', 'score': 25.92}, {'connected_gene': 'ADO', 'score': 11.16}, {'connected_gene': 'ENSG00000238280', 'score': 11.16}, {'connected_gene': 'NRBF2', 'score': 2.77}, {'connected_gene': 'ALDH7A1P4', 'score': 0.39}, {'connected_gene': 'LOC105378327', 'score': 0.19}]
chr10 GH10I062759 62759696 62761599 1.13 [{'connected_gene': 'EGR2', 'score': 26.96}, {'connected_gene': 'ADO', 'score': 24.63}, {'connected_gene': 'ENSG00000238280', 'score': 11.59}, {'connected_gene': 'NRBF2', 'score': 2.21}, {'connected_gene': 'ALDH7A1P4', 'score': 0.37}, {'connected_gene': 'GC10P062785', 'score': 0.31}]
chr10 GH10I062744 62744269 62744455 0.43 [{'connected_gene': 'EGR2', 'score': 36.63}, {'connected_gene': 'ADO', 'score': 23.45}, {'connected_gene': 'ENSG00000238280', 'score': 11.06}, {'connected_gene': 'NRBF2', 'score': 3.04}, {'connected_gene': 'ALDH7A1P4', 'score': 0.77}, {'connected_gene': 'GC10P062785', 'score': 0.26}]
chr10 GH10I062745 62745562 62745931 0.3 [{'connected_gene': 'EGR2', 'score': 28.89}, {'connected_gene': 'ADO', 'score': 23.82}, {'connected_gene': 'ENSG00000238280', 'score': 11.06}, {'connected_gene': 'NRBF2', 'score': 2.54}, {'connected_gene': 'ALDH7A1P4', 'score': 0.77}, {'connected_gene': 'GC10P062785', 'score': 0.26}]
chr10 GH10I062680 62680862 62681909 1.32 [{'connected_gene': 'EGR2', 'score': 34.46}, {'connected_gene': 'ADO', 'score': 7.76}, {'connected_gene': 'NRBF2', 'score': 3.56}, {'connected_gene': 'LOC105378327', 'score': 0.31}, {'connected_gene': 'ALDH7A1P4', 'score': 0.21}]
chr10 GH10I062687 62687474 62687613 0.58 [{'connected_gene': 'EGR2', 'score': 31.92}, {'connected_gene': 'ADO', 'score': 10.77}, {'connected_gene': 'ENSG00000238280', 'score': 10.77}, {'connected_gene': 'NRBF2', 'score': 3.09}, {'connected_gene': 'LOC105378327', 'score': 0.29}, {'connected_gene': 'ALDH7A1P4', 'score': 0.23}]
chr10 GH10I062689 62689115 62690599 0.95 [{'connected_gene': 'EGR2', 'score': 28.49}, {'connected_gene': 'ADO', 'score': 15.41}, {'connected_gene': 'ENSG00000238280', 'score': 14.97}, {'connected_gene': 'NRBF2', 'score': 3.58}, {'connected_gene': 'LOC105378327', 'score': 0.29}, {'connected_gene': 'ALDH7A1P4', 'score': 0.23}]
chr10 GH10I062640 62640400 62640800 1.11 [{'connected_gene': 'EGR2', 'score': 25.04}, {'connected_gene': 'ENSG00000238280', 'score': 11.19}, {'connected_gene': 'ADO', 'score': 11.19}, {'connected_gene': 'NRBF2', 'score': 3.3}, {'connected_gene': 'LOC105378327', 'score': 0.39}, {'connected_gene': 'GC10M062430', 'score': 0.08}, {'connected_gene': 'ZNF365', 'score': 0.06}]
chr10 GH10I062635 62635168 62639199 1.51 [{'connected_gene': 'EGR2', 'score': 32.36}, {'connected_gene': 'ADO', 'score': 18.92}, {'connected_gene': 'ENSG00000238280', 'score': 11.19}, {'connected_gene': 'NRBF2', 'score': 4.01}, {'connected_gene': 'LOC105378327', 'score': 0.37}, {'connected_gene': 'GC10M062430', 'score': 0.08}, {'connected_gene': 'ZNF365', 'score': 0.07}]
chr10 GH10I062778 62778720 62780063 1.19 [{'connected_gene': 'EGR2', 'score': 13.6}, {'connected_gene': 'ADO', 'score': 12.17}, {'connected_gene': 'ENSG00000238280', 'score': 12.17}, {'connected_gene': 'JMJD1C', 'score': 5.61}, {'connected_gene': 'NRBF2', 'score': 3.22}, {'connected_gene': 'GC10P062785', 'score': 0.44}, {'connected_gene': 'ALDH7A1P4', 'score': 0.28}]
chr10 GH10I062613 62613260 62615540 1.44 [{'connected_gene': 'EGR2', 'score': 32.36}, {'connected_gene': 'ADO', 'score': 12.98}, {'connected_gene': 'ENSG00000238280', 'score': 11.56}, {'connected_gene': 'RNU6-543P', 'score': 10.46}, {'connected_gene': 'LOC105378327', 'score': 0.26}, {'connected_gene': 'GC10M062430', 'score': 0.09}, {'connected_gene': 'ZNF365', 'score': 0.07}]
chr10 GH10I062616 62616602 62621514 1.4 [{'connected_gene': 'EGR2', 'score': 37.36}, {'connected_gene': 'ADO', 'score': 11.91}, {'connected_gene': 'ENSG00000238280', 'score': 11.91}, {'connected_gene': 'LOC105378327', 'score': 0.28}, {'connected_gene': 'GC10M062430', 'score': 0.09}, {'connected_gene': 'ZNF365', 'score': 0.07}]
chr10 GH10I062622 62622127 62622302 0.48 [{'connected_gene': 'EGR2', 'score': 28.86}, {'connected_gene': 'ADO', 'score': 12.96}, {'connected_gene': 'ENSG00000238280', 'score': 11.51}, {'connected_gene': 'LOC105378327', 'score': 0.29}, {'connected_gene': 'GC10M062430', 'score': 0.09}, {'connected_gene': 'ZNF365', 'score': 0.07}]
chr10 GH10I062631 62631360 62633307 1.56 [{'connected_gene': 'EGR2', 'score': 34.12}, {'connected_gene': 'ADO', 'score': 7.49}, {'connected_gene': 'LOC105378327', 'score': 0.34}, {'connected_gene': 'GC10M062430', 'score': 0.08}, {'connected_gene': 'ZNF365', 'score': 0.07}]
chr10 GH10I062958 62958419 62963477 0.2 [{'connected_gene': 'EGR2', 'score': 11.48}, {'connected_gene': 'ADO', 'score': 6.36}, {'connected_gene': 'ENSG00000238280', 'score': 5.42}, {'connected_gene': 'GC10P062931', 'score': 0.31}, {'connected_gene': 'PIR50053', 'score': 0.15}]
chr10 GH10I062819 62819218 62819277 0.88 [{'connected_gene': 'EGR2', 'score': 550.15}, {'connected_gene': 'ADO', 'score': 8.19}, {'connected_gene': 'ENSG00000238280', 'score': 0.39}, {'connected_gene': 'GC10P062845', 'score': 0.31}]
chr10 GH10I062978 62978047 62982808 0.46 [{'connected_gene': 'EGR2', 'score': 11.04}, {'connected_gene': 'ADO', 'score': 6.37}, {'connected_gene': 'ENSG00000238280', 'score': 5.12}, {'connected_gene': 'GC10P062931', 'score': 0.25}, {'connected_gene': 'PIR50053', 'score': 0.18}]
chr10 GH10I062634 62634685 62634870 0.73 [{'connected_gene': 'EGR2', 'score': 19.19}, {'connected_gene': 'NRBF2', 'score': 3.85}, {'connected_gene': 'LOC105378327', 'score': 0.34}, {'connected_gene': 'GC10M062430', 'score': 0.08}, {'connected_gene': 'ZNF365', 'score': 0.07}]
chr10 GH10I062501 62501637 62501840 0.22 [{'connected_gene': 'EGR2', 'score': 4.53}, {'connected_gene': 'GC10M062430', 'score': 0.2}, {'connected_gene': 'ZNF365', 'score': 0.13}, {'connected_gene': 'LOC105378327', 'score': 0.1}]
chr10 GH10I062503 62503313 62503506 0.65 [{'connected_gene': 'EGR2', 'score': 15.26}, {'connected_gene': 'GC10M062430', 'score': 0.2}, {'connected_gene': 'ZNF365', 'score': 0.13}, {'connected_gene': 'LOC105378327', 'score': 0.1}]
chr10 GH10I062540 62540201 62542736 1.03 [{'connected_gene': 'EGR2', 'score': 22.86}, {'connected_gene': 'JMJD1C', 'score': 10.19}, {'connected_gene': 'GC10M062430', 'score': 0.14}, {'connected_gene': 'LOC105378327', 'score': 0.14}, {'connected_gene': 'ZNF365', 'score': 0.1}]
chr10 GH10I062815 62815481 62818870 2.26 [{'connected_gene': 'EGR2', 'score': 550.15}, {'connected_gene': 'JMJD1C', 'score': 20.41}, {'connected_gene': 'ENSG00000238280', 'score': 0.39}, {'connected_gene': 'GC10P062845', 'score': 0.31}]
chr10 GH10I062580 62580593 62586499 1.21 [{'connected_gene': 'EGR2', 'score': 16.05}, {'connected_gene': 'RNU6-543P', 'score': 10.41}, {'connected_gene': 'ADO', 'score': 10.33}, {'connected_gene': 'ENSG00000238280', 'score': 10.33}, {'connected_gene': 'LOC105378327', 'score': 0.19}, {'connected_gene': 'GC10M062430', 'score': 0.11}, {'connected_gene': 'ZNF365', 'score': 0.08}]
chr10 GH10I062883 62883595 62887764 0.49 [{'connected_gene': 'EGR2', 'score': 11.73}, {'connected_gene': 'RNU6-543P', 'score': 10.19}, {'connected_gene': 'ADO', 'score': 8.56}, {'connected_gene': 'ENSG00000238280', 'score': 5.32}, {'connected_gene': 'GC10P062845', 'score': 0.26}]
chr10 GH10I062577 62577177 62578750 0.78 [{'connected_gene': 'EGR2', 'score': 10.33}, {'connected_gene': 'RNU6-543P', 'score': 10.3}, {'connected_gene': 'LOC105378327', 'score': 0.18}, {'connected_gene': 'GC10M062430', 'score': 0.11}, {'connected_gene': 'ZNF365', 'score': 0.08}]
chr10 GH10I062545 62545133 62546375 0.89 [{'connected_gene': 'EGR2', 'score': 7.98}, {'connected_gene': 'LOC105378327', 'score': 0.14}, {'connected_gene': 'GC10M062430', 'score': 0.14}, {'connected_gene': 'ZNF365', 'score': 0.09}]
chr10 GH10I062911 62911681 62911850 0.4 [{'connected_gene': 'EGR2', 'score': 0.44}, {'connected_gene': 'GC10P062845', 'score': 0.2}]
chr10 GH10I062904 62904361 62904510 0.4 [{'connected_gene': 'EGR2', 'score': 0.37}, {'connected_gene': 'GC10P062845', 'score': 0.22}]
chr10 GH10I062903 62903937 62904256 0.58 [{'connected_gene': 'EGR2', 'score': 0.37}, {'connected_gene': 'GC10P062845', 'score': 0.22}]
chr10 GH10I062592 62592222 62592622 0.45 [{'connected_gene': 'RNU6-543P', 'score': 11.14}, {'connected_gene': 'ADO', 'score': 10.39}, {'connected_gene': 'ENSG00000238280', 'score': 10.39}, {'connected_gene': 'EGR2', 'score': 7.19}, {'connected_gene': 'LOC105378327', 'score': 0.21}, {'connected_gene': 'GC10M062430', 'score': 0.1}, {'connected_gene': 'ZNF365', 'score': 0.08}]
chr10 GH10I062844 62844343 62844568 0.43 [{'connected_gene': 'GC10P062845', 'score': 550.77}, {'connected_gene': 'ADO', 'score': 10.3}, {'connected_gene': 'ENSG00000238280', 'score': 10.3}, {'connected_gene': 'EGR2', 'score': 0.18}]
chr10 GH10I062432 62432195 62434928 1.3 [{'connected_gene': 'GC10M062430', 'score': 550.77}, {'connected_gene': 'ZNF365', 'score': 13.91}, {'connected_gene': 'EGR2', 'score': 11.23}, {'connected_gene': 'RTKN2', 'score': 6.64}, {'connected_gene': 'LOC283045', 'score': 0.22}]
chr10 GH10I062831 62831541 62831690 0.63 [{'connected_gene': 'GC10P062845', 'score': 0.39}, {'connected_gene': 'ENSG00000238280', 'score': 0.31}, {'connected_gene': 'EGR2', 'score': 0.17}]
chr10 GH10I062818 62818901 62818930 0.88 [{'connected_gene': 'ENSG00000238280', 'score': 0.39}, {'connected_gene': 'GC10P062845', 'score': 0.31}, {'connected_gene': 'EGR2', 'score': 0.15}]
chr10 GH10I062812 62812401 62813400 0.63 [{'connected_gene': 'ENSG00000238280', 'score': 0.44}, {'connected_gene': 'GC10P062845', 'score': 0.29}, {'connected_gene': 'EGR2', 'score': 0.14}]
chr10 GH10I062816 62815200 62815401 1.14 [{'connected_gene': 'ENSG00000238280', 'score': 0.44}, {'connected_gene': 'GC10P062845', 'score': 0.29}, {'connected_gene': 'EGR2', 'score': 0.15}]
chr10 GH10I062860 62860520 62862682 0.62 [{'connected_gene': 'GC10P062845', 'score': 0.37}, {'connected_gene': 'EGR2', 'score': 0.22}]
chr10 GH10I062814 62814001 62814600 0.51 [{'connected_gene': 'ENSG00000238280', 'score': 0.44}, {'connected_gene': 'GC10P062845', 'score': 0.29}, {'connected_gene': 'EGR2', 'score': 0.14}]
chr10 GH10I062856 62856201 62856350 0.38 [{'connected_gene': 'GC10P062845', 'score': 0.39}, {'connected_gene': 'EGR2', 'score': 0.21}]

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