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
ENST00000464839 [[89571814, 89572735], [89573705, 89573974], [89575359, 89575553], [89575846, 89575949], [89578154, 89578367], [89579698, 89579979], [89582674, 89582917], [89583259, 89583456], [89585861, 89585971], [89586825, 89586953], [89587459, 89587666], [89591545, 89591745], [89613249, 89613462], [89614974, 89615255], [89616012, 89616139]] [[89573857, 89573974], [89575359, 89575553], [89575846, 89575949], [89578154, 89578367], [89579698, 89579979], [89582674, 89582917], [89583259, 89583456], [89585861, 89585971], [89586825, 89586953], [89587459, 89587649]]
ENST00000370466 [[89573682, 89573974], [89575359, 89575553], [89575846, 89575949], [89578154, 89578367], [89579698, 89579979], [89582674, 89582917], [89583259, 89583456], [89585861, 89585971], [89586825, 89586953], [89587459, 89587666], [89591545, 89591797]] [[89573857, 89573974], [89575359, 89575553], [89575846, 89575949], [89578154, 89578367], [89579698, 89579979], [89582674, 89582917], [89583259, 89583456], [89585861, 89585971], [89586825, 89586953], [89587459, 89587649]]
ENST00000493802 [[89573799, 89573974], [89575359, 89575553], [89575846, 89575949], [89578154, 89578367], [89578624, 89578733]] None
ENST00000463660 [[89575869, 89575949], [89578154, 89578367], [89579698, 89579979], [89582674, 89582917], [89583259, 89585903]] None
NM_004120 [[89571814, 89573974], [89575359, 89575553], [89575846, 89575949], [89578154, 89578367], [89579698, 89579979], [89582674, 89582917], [89583259, 89583456], [89585861, 89585971], [89586825, 89586953], [89587459, 89587666], [89591545, 89591842]] [[89573857, 89573974], [89575359, 89575553], [89575846, 89575949], [89578154, 89578367], [89579698, 89579979], [89582674, 89582917], [89583259, 89583456], [89585861, 89585971], [89586825, 89586953], [89587459, 89587649]]
Promoter
Chrom Start End Description
chr1 89591578 89591596 CAGE_peak_3_at_GBP2_5end
chr1 89591731 89591740 CAGE_peak_2_at_GBP2_5end
chr1 89591749 89591816 CAGE_peak_1_at_GBP2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I089444 89444875 89445205 0.27 [{'connected_gene': 'LRRC8C', 'score': 17.72}, {'connected_gene': 'GBP3', 'score': 9.44}, {'connected_gene': 'GBP2', 'score': 6.8}, {'connected_gene': 'GBP4', 'score': 3.02}, {'connected_gene': 'GBP1', 'score': 2.84}, {'connected_gene': 'LRRC8B', 'score': 1.91}, {'connected_gene': 'PIR33822', 'score': 0.37}, {'connected_gene': 'GC01M089463', 'score': 0.34}]
chr1 GH01I089451 89451099 89451248 0.52 [{'connected_gene': 'LRRC8C', 'score': 17.31}, {'connected_gene': 'GBP6', 'score': 11.08}, {'connected_gene': 'GBP3', 'score': 9.36}, {'connected_gene': 'GBP2', 'score': 6.71}, {'connected_gene': 'GBP4', 'score': 2.81}, {'connected_gene': 'GBP1', 'score': 2.36}, {'connected_gene': 'LRRC8B', 'score': 1.81}, {'connected_gene': 'GC01M089463', 'score': 0.37}, {'connected_gene': 'PIR33822', 'score': 0.34}]
chr1 GH01I088700 88700001 88702600 1.22 [{'connected_gene': 'GBP3', 'score': 14.58}, {'connected_gene': 'PKN2', 'score': 10.9}, {'connected_gene': 'RBMXL1', 'score': 10.37}, {'connected_gene': 'GTF2B', 'score': 7.95}, {'connected_gene': 'GBP2', 'score': 6.73}, {'connected_gene': 'GBP4', 'score': 3.37}, {'connected_gene': 'GBP1', 'score': 2.6}, {'connected_gene': 'GC01P088703', 'score': 0.77}, {'connected_gene': 'PKN2-AS1', 'score': 0.37}]
chr1 GH01I089113 89113557 89116007 0.31 [{'connected_gene': 'GBP3', 'score': 20.06}, {'connected_gene': 'GBP7', 'score': 10.72}, {'connected_gene': 'GBP5', 'score': 10.12}, {'connected_gene': 'PTGES3P1', 'score': 0.44}, {'connected_gene': 'LOC105378842', 'score': 0.39}, {'connected_gene': 'GBP2', 'score': 0.28}]
chr1 GH01I089175 89175993 89176052 0.82 [{'connected_gene': 'GBP7', 'score': 550.77}, {'connected_gene': 'GBP2', 'score': 0.31}, {'connected_gene': 'LOC105378842', 'score': 0.25}]
chr1 GH01I088837 88837386 88837510 0.24 [{'connected_gene': 'GTF2B', 'score': 2.39}, {'connected_gene': 'GBP2', 'score': 1.38}, {'connected_gene': 'GBP4', 'score': 1.22}, {'connected_gene': 'ELOCP19', 'score': 0.44}, {'connected_gene': 'GC01M088841', 'score': 0.44}]
chr1 GH01I089103 89103031 89110672 0.56 [{'connected_gene': 'PTGES3P1', 'score': 556.21}, {'connected_gene': 'GBP7', 'score': 35.74}, {'connected_gene': 'GBP3', 'score': 23.45}, {'connected_gene': 'GBP6', 'score': 10.7}, {'connected_gene': 'LOC100421401', 'score': 10.26}, {'connected_gene': 'GBP5', 'score': 10.21}, {'connected_gene': 'GC01M089104', 'score': 0.77}, {'connected_gene': 'LOC105378842', 'score': 0.34}, {'connected_gene': 'GBP2', 'score': 0.26}]
chr1 GH01I089124 89124263 89128187 2.05 [{'connected_gene': 'GBP2', 'score': 550.34}, {'connected_gene': 'GBP7', 'score': 37.36}, {'connected_gene': 'GBP3', 'score': 20.85}, {'connected_gene': 'GBP4', 'score': 11.87}, {'connected_gene': 'GBP5', 'score': 11.2}, {'connected_gene': 'PTGES3P1', 'score': 5.14}, {'connected_gene': 'LOC105378842', 'score': 0.77}]
chr1 GH01I089354 89354201 89354600 0.66 [{'connected_gene': 'GBP2', 'score': 13.37}, {'connected_gene': 'GBP5', 'score': 10.15}, {'connected_gene': 'GBP1', 'score': 9.3}, {'connected_gene': 'GBP4', 'score': 7.52}, {'connected_gene': 'GTF2B', 'score': 5.81}, {'connected_gene': 'KYAT3', 'score': 2.76}, {'connected_gene': 'LRRC8C', 'score': 1.7}, {'connected_gene': 'GBP6', 'score': 0.44}, {'connected_gene': 'PIR56754', 'score': 0.39}]
chr1 GH01I089831 89831748 89833509 0.84 [{'connected_gene': 'GBP2', 'score': 11.22}, {'connected_gene': 'LOC101927975', 'score': 5.77}, {'connected_gene': 'LRRC8D', 'score': 0.39}, {'connected_gene': 'GC01P089867', 'score': 0.28}, {'connected_gene': 'ENSG00000271949', 'score': 0.08}]
chr1 GH01I089069 89069665 89070800 1.04 [{'connected_gene': 'GBP1', 'score': 47.24}, {'connected_gene': 'GBP5', 'score': 29.84}, {'connected_gene': 'GBP7', 'score': 26.06}, {'connected_gene': 'GBP4', 'score': 24.99}, {'connected_gene': 'GBP2', 'score': 11.45}, {'connected_gene': 'GBP6', 'score': 10.26}, {'connected_gene': 'GBP3', 'score': 9.61}, {'connected_gene': 'GTF2B', 'score': 6.02}, {'connected_gene': 'GC01M089104', 'score': 0.29}, {'connected_gene': 'LOC105378841', 'score': 0.28}]
chr1 GH01I089312 89312775 89312821 0.24 [{'connected_gene': 'GBP1', 'score': 22.78}, {'connected_gene': 'GBP5', 'score': 18.53}, {'connected_gene': 'GBP2', 'score': 14.01}, {'connected_gene': 'GBP4', 'score': 13.07}, {'connected_gene': 'GTF2B', 'score': 6.64}, {'connected_gene': 'LRRC8C', 'score': 2.54}, {'connected_gene': 'ENSG00000233235', 'score': 0.39}, {'connected_gene': 'GC01P089291', 'score': 0.34}]
chr1 GH01I089351 89351593 89351858 0.4 [{'connected_gene': 'GBP1', 'score': 39.0}, {'connected_gene': 'GBP5', 'score': 34.74}, {'connected_gene': 'GBP4', 'score': 17.32}, {'connected_gene': 'GBP2', 'score': 16.77}, {'connected_gene': 'GTF2B', 'score': 8.28}, {'connected_gene': 'LRRC8C', 'score': 3.82}, {'connected_gene': 'GBP3', 'score': 2.34}, {'connected_gene': 'PIR56754', 'score': 0.44}, {'connected_gene': 'GBP6', 'score': 0.39}]
chr1 GH01I089309 89309629 89312167 1.36 [{'connected_gene': 'GBP1', 'score': 51.98}, {'connected_gene': 'GBP5', 'score': 34.0}, {'connected_gene': 'GBP4', 'score': 21.86}, {'connected_gene': 'GBP2', 'score': 15.91}, {'connected_gene': 'GTF2B', 'score': 7.81}, {'connected_gene': 'PKN2', 'score': 5.22}, {'connected_gene': 'GBP3', 'score': 4.79}, {'connected_gene': 'LOC101927975', 'score': 4.24}, {'connected_gene': 'LRRC8C', 'score': 3.57}, {'connected_gene': 'ENSG00000233235', 'score': 0.39}, {'connected_gene': 'GC01P089291', 'score': 0.37}]
chr1 GH01I089068 89068790 89069114 0.34 [{'connected_gene': 'GBP1', 'score': 10.51}, {'connected_gene': 'GBP5', 'score': 4.68}, {'connected_gene': 'GBP4', 'score': 4.02}, {'connected_gene': 'GBP2', 'score': 3.08}, {'connected_gene': 'GTF2B', 'score': 1.88}, {'connected_gene': 'LOC105378841', 'score': 0.29}, {'connected_gene': 'GC01M089104', 'score': 0.28}]
chr1 GH01I089284 89284727 89288153 1.33 [{'connected_gene': 'GBP1', 'score': 61.46}, {'connected_gene': 'GBP5', 'score': 35.65}, {'connected_gene': 'GBP4', 'score': 35.19}, {'connected_gene': 'GBP2', 'score': 14.64}, {'connected_gene': 'GBP6', 'score': 10.85}, {'connected_gene': 'GTF2B', 'score': 7.4}, {'connected_gene': 'LRRC8C', 'score': 3.51}, {'connected_gene': 'GBP3', 'score': 1.71}, {'connected_gene': 'LOC729930', 'score': 0.77}, {'connected_gene': 'GC01P089283', 'score': 0.77}, {'connected_gene': 'LOC100421401', 'score': 0.25}]
chr1 GH01I089277 89277765 89280569 1.09 [{'connected_gene': 'GBP1', 'score': 35.51}, {'connected_gene': 'GBP5', 'score': 32.1}, {'connected_gene': 'GBP4', 'score': 29.22}, {'connected_gene': 'GBP2', 'score': 12.04}, {'connected_gene': 'LOC100421401', 'score': 10.69}, {'connected_gene': 'GBP7', 'score': 9.72}, {'connected_gene': 'GTF2B', 'score': 5.74}, {'connected_gene': 'LRRC8C', 'score': 2.83}, {'connected_gene': 'KYAT3', 'score': 1.73}, {'connected_gene': 'GBP3', 'score': 1.7}, {'connected_gene': 'GC01P089283', 'score': 0.77}]
chr1 GH01I089565 89565032 89567697 1.31 [{'connected_gene': 'LRRC8B', 'score': 31.11}, {'connected_gene': 'LRRC8D', 'score': 1.9}, {'connected_gene': 'LRRC8C', 'score': 1.39}, {'connected_gene': 'GBP2', 'score': 1.39}, {'connected_gene': 'LOC105378845', 'score': 0.39}, {'connected_gene': 'GC01M089607', 'score': 0.26}]
chr1 GH01I089555 89555925 89558573 1.23 [{'connected_gene': 'LRRC8B', 'score': 30.86}, {'connected_gene': 'LRRC8D', 'score': 12.37}, {'connected_gene': 'GBP2', 'score': 3.74}, {'connected_gene': 'LRRC8C', 'score': 2.72}, {'connected_gene': 'GBP4', 'score': 2.36}, {'connected_gene': 'GBP1', 'score': 2.02}, {'connected_gene': 'GBP5', 'score': 1.38}, {'connected_gene': 'ZNF326', 'score': 1.17}, {'connected_gene': 'LOC105378845', 'score': 0.77}, {'connected_gene': 'GC01M089607', 'score': 0.23}]
chr1 GH01I089123 89123001 89123200 0.4 [{'connected_gene': 'GBP5', 'score': 11.24}, {'connected_gene': 'GBP2', 'score': 11.18}, {'connected_gene': 'GBP4', 'score': 10.97}, {'connected_gene': 'GBP7', 'score': 10.36}, {'connected_gene': 'KYAT3', 'score': 4.48}, {'connected_gene': 'LOC105378842', 'score': 0.44}, {'connected_gene': 'PTGES3P1', 'score': 0.37}]
chr1 GH01I089271 89271717 89275687 1.89 [{'connected_gene': 'GBP5', 'score': 580.88}, {'connected_gene': 'GBP1', 'score': 62.68}, {'connected_gene': 'GBP4', 'score': 25.28}, {'connected_gene': 'GBP2', 'score': 25.21}, {'connected_gene': 'GTF2B', 'score': 13.97}, {'connected_gene': 'GBP3', 'score': 12.44}, {'connected_gene': 'LRRC8C', 'score': 9.67}, {'connected_gene': 'GC01P089283', 'score': 0.44}, {'connected_gene': 'LOC100421401', 'score': 0.28}]
chr1 GH01I089421 89421907 89422279 0.29 [{'connected_gene': 'GBP5', 'score': 18.36}, {'connected_gene': 'GBP4', 'score': 18.19}, {'connected_gene': 'GBP2', 'score': 17.08}, {'connected_gene': 'GBP1', 'score': 15.62}, {'connected_gene': 'GBP7', 'score': 9.38}, {'connected_gene': 'LRRC8C', 'score': 8.92}, {'connected_gene': 'LRRC8B', 'score': 5.62}, {'connected_gene': 'GBP3', 'score': 3.8}, {'connected_gene': 'PIR33822', 'score': 0.44}, {'connected_gene': 'GBP1P1', 'score': 0.39}]
chr1 GH01I089128 89128396 89130169 1.32 [{'connected_gene': 'LOC105378842', 'score': 550.77}, {'connected_gene': 'GBP1', 'score': 45.8}, {'connected_gene': 'GBP5', 'score': 33.01}, {'connected_gene': 'GBP4', 'score': 28.25}, {'connected_gene': 'GBP2', 'score': 16.77}, {'connected_gene': 'GBP7', 'score': 10.97}, {'connected_gene': 'GTF2B', 'score': 8.76}, {'connected_gene': 'GBP3', 'score': 7.12}, {'connected_gene': 'PTGES3P1', 'score': 4.75}]
chr1 GH01I089130 89130201 89130600 0.51 [{'connected_gene': 'LOC105378842', 'score': 550.77}, {'connected_gene': 'GBP4', 'score': 11.51}, {'connected_gene': 'GBP7', 'score': 10.71}, {'connected_gene': 'GBP3', 'score': 5.01}, {'connected_gene': 'GBP2', 'score': 0.34}]
chr1 GH01I089001 89001251 89001492 0.26 [{'connected_gene': 'GC01P089002', 'score': 550.77}, {'connected_gene': 'GBP3', 'score': 24.37}, {'connected_gene': 'GBP5', 'score': 10.39}, {'connected_gene': 'GBP7', 'score': 9.74}, {'connected_gene': 'GTF2B', 'score': 1.37}, {'connected_gene': 'GBP2', 'score': 1.26}, {'connected_gene': 'KYAT3', 'score': 0.44}, {'connected_gene': 'RBMXL1', 'score': 0.44}]

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