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
ENST00000378797 [[46916138, 46917632], [46918875, 46918966], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946732], [46952024, 46952140], [46961268, 46961635]] [[46917446, 46917632], [46918875, 46918966], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946610]]
ENST00000378781 [[46916138, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946732], [46952024, 46952140], [46961268, 46961635]] [[46935667, 46935708], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946610]]
ENST00000429979 [[46916138, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946732], [46952024, 46952140], [46961268, 46961635]] [[46917519, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946610]]
ENST00000487195 [[46917098, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46925142]] None
ENST00000378784 [[46917098, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946345], [46952024, 46952140], [46961268, 46961368]] [[46917519, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946345], [46952024, 46952088]]
ENST00000441284 [[46917098, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942172, 46942384], [46942867, 46942950], [46946075, 46946732], [46952024, 46952140], [46961268, 46961370]] [[46937314, 46937348], [46942172, 46942384], [46942867, 46942950], [46946075, 46946610]]
ENST00000378787 [[46917098, 46917632], [46918875, 46918966], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946732], [46961268, 46961621]] [[46917446, 46917632], [46918875, 46918966], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946610]]
ENST00000389908 [[46917098, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946732], [46961811, 46962014], [46963919, 46964177]] [[46917519, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946610]]
ENST00000409879 [[46917101, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46952024, 46952140], [46961811, 46962014], [47011519, 47012325]] [[46917519, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46952024, 46952088]]
ENST00000322896 [[46917201, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46952024, 46952140], [46961268, 46961317]] [[46917519, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46952024, 46952088]]
ENST00000534925 [[46917414, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946345], [46961268, 46961387]] [[46917519, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946205]]
ENST00000417405 [[46942208, 46942384], [46942867, 46942950], [46946075, 46946213], [46961268, 46961365]] [[46942208, 46942384], [46942867, 46942950], [46946075, 46946205]]
ENST00000439642 [[46946075, 46946732], [46952024, 46952140], [46952581, 46952780]] [[46946075, 46946610]]
ENST00000480935 [[46946187, 46946345], [46961268, 46961367]] None
NM_025113 [[46916134, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946732], [46952024, 46952140], [46961268, 46961635]] [[46917519, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946610]]
NM_001286763 [[46916134, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946345], [46952024, 46952140], [46961268, 46961635]] [[46917519, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946345], [46952024, 46952088]]
NM_001286765 [[46916134, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46952024, 46952140], [46961268, 46961635]] [[46917519, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46952024, 46952088]]
NM_001286762 [[46916134, 46917632], [46918875, 46918966], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946732], [46961268, 46961635]] [[46917446, 46917632], [46918875, 46918966], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946610]]
NM_001286764 [[46916134, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946345], [46961268, 46961635]] [[46917519, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946205]]
NM_001286766 [[46916134, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46961268, 46961635]] [[46917519, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942357]]
NM_001286761 [[46916134, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946732], [46961811, 46962014], [46963919, 46964177]] [[46917519, 46917632], [46918875, 46918966], [46919581, 46919735], [46923420, 46923482], [46924247, 46924486], [46930566, 46930631], [46933620, 46933766], [46935575, 46935708], [46936672, 46936733], [46937249, 46937348], [46942176, 46942384], [46942867, 46942950], [46946075, 46946610]]
Promoter
Chrom Start End Description
chr13 46952645 46952692 CAGE_peak_3_at_KIAA0226L_5end
chr13 46961319 46961328 CAGE_peak_7_at_KIAA0226L_5end
chr13 46961337 46961359 CAGE_peak_2_at_KIAA0226L_5end
chr13 46961366 46961394 CAGE_peak_1_at_KIAA0226L_5end
chr13 46961530 46961558 CAGE_peak_6_at_KIAA0226L_5end
chr13 46961580 46961620 CAGE_peak_4_at_KIAA0226L_5end
chr13 46961692 46961712 CAGE_peak_10_at_KIAA0226L_5end
chr13 46961830 46961840 CAGE_peak_12_at_KIAA0226L_5end
chr13 46961859 46961883 CAGE_peak_5_at_KIAA0226L_5end
chr13 46964297 46964315 CAGE_peak_8_at_KIAA0226L_5end
chr13 47012352 47012366 CAGE_peak_11_at_KIAA0226L_5end,CAGE_peak_2_at_PPP1R2P4_5end
chr13 47012377 47012399 CAGE_peak_1_at_PPP1R2P4_5end,CAGE_peak_9_at_KIAA0226L_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I046159 46159526 46162582 1.36 [{'connected_gene': 'LCP1', 'score': 11.87}, {'connected_gene': 'RUBCNL', 'score': 5.86}, {'connected_gene': 'ZC3H13', 'score': 1.28}, {'connected_gene': 'RN7SL288P', 'score': 0.44}, {'connected_gene': 'ENSG00000278937', 'score': 0.26}]
chr13 GH13I046163 46163889 46185703 2.49 [{'connected_gene': 'LCP1', 'score': 571.32}, {'connected_gene': 'ERICH6B', 'score': 16.87}, {'connected_gene': 'COG3', 'score': 15.73}, {'connected_gene': 'RNU2-6P', 'score': 10.26}, {'connected_gene': 'RUBCNL', 'score': 8.44}, {'connected_gene': 'LRRC63', 'score': 7.57}, {'connected_gene': 'TPT1-AS1', 'score': 7.38}, {'connected_gene': 'ZC3H13', 'score': 1.71}, {'connected_gene': 'RN7SL288P', 'score': 0.44}, {'connected_gene': 'LOC105370192', 'score': 0.39}]
chr13 GH13I046293 46293406 46298199 1.52 [{'connected_gene': 'LCP1', 'score': 9.53}, {'connected_gene': 'LINC01198', 'score': 4.48}, {'connected_gene': 'RUBCNL', 'score': 3.48}, {'connected_gene': 'ZC3H13', 'score': 1.95}, {'connected_gene': 'LINC00563', 'score': 0.77}, {'connected_gene': 'GC13P046277', 'score': 0.37}, {'connected_gene': 'LOC105370194', 'score': 0.31}, {'connected_gene': 'GC13M046284', 'score': 0.25}]
chr13 GH13I046354 46354158 46355943 1.49 [{'connected_gene': 'COG3', 'score': 15.12}, {'connected_gene': 'LINC01198', 'score': 12.13}, {'connected_gene': 'LRCH1', 'score': 10.8}, {'connected_gene': 'LCP1', 'score': 3.53}, {'connected_gene': 'RUBCNL', 'score': 2.72}, {'connected_gene': 'GC13M046284', 'score': 0.44}, {'connected_gene': 'RNU2-6P', 'score': 0.37}, {'connected_gene': 'GC13M046376', 'score': 0.37}]
chr13 GH13I046403 46403601 46405879 1.24 [{'connected_gene': 'OR7E101P', 'score': 18.54}, {'connected_gene': 'LCP1', 'score': 18.48}, {'connected_gene': 'RNU2-6P', 'score': 12.15}, {'connected_gene': 'LINC01198', 'score': 11.25}, {'connected_gene': 'RUBCNL', 'score': 7.43}, {'connected_gene': 'ZC3H13', 'score': 1.91}, {'connected_gene': 'GC13P046411', 'score': 0.44}, {'connected_gene': 'GC13P046380', 'score': 0.34}]
chr13 GH13I046338 46338463 46342319 1.38 [{'connected_gene': 'OR7E101P', 'score': 20.66}, {'connected_gene': 'LINC01198', 'score': 12.04}, {'connected_gene': 'RNU2-6P', 'score': 11.85}, {'connected_gene': 'LCP1', 'score': 3.51}, {'connected_gene': 'RUBCNL', 'score': 1.62}, {'connected_gene': 'GC13M046284', 'score': 0.44}, {'connected_gene': 'LOC105370194', 'score': 0.37}]
chr13 GH13I046359 46359295 46360533 0.83 [{'connected_gene': 'OR7E101P', 'score': 20.68}, {'connected_gene': 'LINC01198', 'score': 11.74}, {'connected_gene': 'RNU2-6P', 'score': 0.39}, {'connected_gene': 'GC13M046284', 'score': 0.39}, {'connected_gene': 'GC13M046376', 'score': 0.39}, {'connected_gene': 'RUBCNL', 'score': 0.18}]
chr13 GH13I046372 46372727 46391611 2.59 [{'connected_gene': 'RUBCNL', 'score': 554.53}, {'connected_gene': 'GC13P046380', 'score': 550.77}, {'connected_gene': 'OR7E101P', 'score': 19.03}, {'connected_gene': 'COG3', 'score': 16.63}, {'connected_gene': 'LINC01198', 'score': 16.47}, {'connected_gene': 'LRCH1', 'score': 10.46}, {'connected_gene': 'LCP1', 'score': 2.31}, {'connected_gene': 'GC13M046376', 'score': 0.44}, {'connected_gene': 'RNU2-6P', 'score': 0.44}, {'connected_gene': 'GC13P046411', 'score': 0.31}]
chr13 GH13I046584 46584495 46586538 0.96 [{'connected_gene': 'RUBCNL', 'score': 6.36}, {'connected_gene': 'LRCH1', 'score': 5.65}, {'connected_gene': 'GC13P046577', 'score': 0.44}, {'connected_gene': 'GC13P046617', 'score': 0.29}]
chr13 GH13I047087 47087883 47088499 0.31 [{'connected_gene': 'RUBCNL', 'score': 5.08}, {'connected_gene': 'LOC105370195', 'score': 0.1}, {'connected_gene': 'GC13M046913', 'score': 0.09}]
chr13 GH13I046664 46664402 46669653 1.5 [{'connected_gene': 'LRCH1', 'score': 20.84}, {'connected_gene': 'LCP1', 'score': 1.31}, {'connected_gene': 'RUBCNL', 'score': 1.2}, {'connected_gene': 'GC13P046617', 'score': 0.25}, {'connected_gene': 'ENSG00000278462', 'score': 0.23}]
chr13 GH13I046551 46551913 46556346 2.5 [{'connected_gene': 'LRCH1', 'score': 558.09}, {'connected_gene': 'RUBCNL', 'score': 7.01}, {'connected_gene': 'LINC01198', 'score': 5.09}, {'connected_gene': 'LCP1', 'score': 1.81}, {'connected_gene': 'GC13P046577', 'score': 0.34}]
chr13 GH13I046632 46632115 46634236 0.78 [{'connected_gene': 'LRCH1', 'score': 6.81}, {'connected_gene': 'RUBCNL', 'score': 6.18}, {'connected_gene': 'GC13P046617', 'score': 0.37}, {'connected_gene': 'ENSG00000278462', 'score': 0.18}]
chr13 GH13I046638 46638708 46642941 1.17 [{'connected_gene': 'LRCH1', 'score': 18.19}, {'connected_gene': 'ESD', 'score': 10.41}, {'connected_gene': 'RUBCNL', 'score': 6.26}, {'connected_gene': 'GC13P046617', 'score': 0.34}, {'connected_gene': 'ENSG00000278462', 'score': 0.18}]
chr13 GH13I046604 46604167 46610353 1.34 [{'connected_gene': 'LRCH1', 'score': 18.69}, {'connected_gene': 'RNU2-6P', 'score': 10.14}, {'connected_gene': 'RUBCNL', 'score': 6.3}, {'connected_gene': 'GC13P046617', 'score': 0.44}, {'connected_gene': 'GC13P046577', 'score': 0.31}]
chr13 GH13I046368 46368962 46370883 1.26 [{'connected_gene': 'LINC01198', 'score': 16.36}, {'connected_gene': 'LCP1', 'score': 1.53}, {'connected_gene': 'RUBCNL', 'score': 1.43}, {'connected_gene': 'RNU2-6P', 'score': 0.77}, {'connected_gene': 'GC13M046376', 'score': 0.77}, {'connected_gene': 'GC13M046284', 'score': 0.34}]
chr13 GH13I046401 46401016 46401841 0.31 [{'connected_gene': 'LINC01198', 'score': 16.44}, {'connected_gene': 'RNU2-6P', 'score': 12.17}, {'connected_gene': 'GC13P046411', 'score': 0.44}, {'connected_gene': 'GC13P046380', 'score': 0.34}, {'connected_gene': 'RUBCNL', 'score': 0.28}]
chr13 GH13I046349 46349998 46352190 0.49 [{'connected_gene': 'LINC01198', 'score': 14.16}, {'connected_gene': 'RNU2-6P', 'score': 12.3}, {'connected_gene': 'GC13M046284', 'score': 0.44}, {'connected_gene': 'GC13M046376', 'score': 0.34}, {'connected_gene': 'RUBCNL', 'score': 0.17}]
chr13 GH13I046352 46352806 46353096 0.51 [{'connected_gene': 'RNU2-6P', 'score': 12.3}, {'connected_gene': 'LCP1', 'score': 2.03}, {'connected_gene': 'GC13M046284', 'score': 0.44}, {'connected_gene': 'GC13M046376', 'score': 0.34}, {'connected_gene': 'RUBCNL', 'score': 0.17}]
chr13 GH13I046400 46400580 46400655 0.4 [{'connected_gene': 'RNU2-6P', 'score': 12.17}, {'connected_gene': 'GC13P046411', 'score': 0.44}, {'connected_gene': 'GC13P046380', 'score': 0.37}, {'connected_gene': 'RUBCNL', 'score': 0.28}]
chr13 GH13I046345 46345200 46346190 0.4 [{'connected_gene': 'GC13M046284', 'score': 550.77}, {'connected_gene': 'OR7E101P', 'score': 20.67}, {'connected_gene': 'LINC01198', 'score': 12.04}, {'connected_gene': 'RNU2-6P', 'score': 11.66}, {'connected_gene': 'LOC105370194', 'score': 0.34}, {'connected_gene': 'RUBCNL', 'score': 0.16}]
chr13 GH13I046618 46618234 46619378 0.43 [{'connected_gene': 'GC13P046617', 'score': 550.77}, {'connected_gene': 'RUBCNL', 'score': 6.45}, {'connected_gene': 'LRCH1', 'score': 5.78}, {'connected_gene': 'ENSG00000278462', 'score': 0.15}]
chr13 GH13I046393 46393046 46393195 0.84 [{'connected_gene': 'GC13P046380', 'score': 0.39}, {'connected_gene': 'GC13P046411', 'score': 0.37}, {'connected_gene': 'RUBCNL', 'score': 0.25}]
chr13 GH13I046356 46356006 46356155 0.4 [{'connected_gene': 'GC13M046284', 'score': 0.39}, {'connected_gene': 'RNU2-6P', 'score': 0.37}, {'connected_gene': 'GC13M046376', 'score': 0.37}, {'connected_gene': 'RUBCNL', 'score': 0.18}]

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