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
ENST00000355754 [[89646830, 89651152], [89652015, 89652209], [89652682, 89652785], [89654264, 89654477], [89655720, 89656001], [89656943, 89657189], [89658586, 89658783], [89658985, 89659095], [89660979, 89661107], [89662792, 89662987], [89664477, 89664615]] [[89650936, 89651152], [89652015, 89652209], [89652682, 89652785], [89654264, 89654477], [89655720, 89656001], [89656943, 89657189], [89658586, 89658783], [89658985, 89659095], [89660979, 89661107], [89662792, 89662987], [89664477, 89664517]]
ENST00000471938 [[89647455, 89648061], [89650919, 89651081]] None
ENST00000481397 [[89648180, 89648210], [89650919, 89651152], [89652015, 89652209]] None
NM_052941 [[89646830, 89651152], [89652015, 89652209], [89652682, 89652785], [89654264, 89654477], [89655720, 89656001], [89656943, 89657189], [89658586, 89658783], [89658985, 89659095], [89660979, 89661107], [89662792, 89662987], [89664477, 89664633]] [[89650936, 89651152], [89652015, 89652209], [89652682, 89652785], [89654264, 89654477], [89655720, 89656001], [89656943, 89657189], [89658586, 89658783], [89658985, 89659095], [89660979, 89661107], [89662792, 89662987], [89664477, 89664517]]
Promoter
Chrom Start End Description
chr1 89664531 89664542 CAGE_peak_3_at_GBP4_5end
chr1 89664551 89664594 CAGE_peak_2_at_GBP4_5end
chr1 89664595 89664636 CAGE_peak_1_at_GBP4_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 GH01I089672 89672182 89672515 1.18 [{'connected_gene': 'LRRC8C', 'score': 36.18}, {'connected_gene': 'LRRC8C-DT', 'score': 11.74}, {'connected_gene': 'GBP4', 'score': 8.66}, {'connected_gene': 'GBP5', 'score': 6.33}, {'connected_gene': 'ZNF326', 'score': 2.65}, {'connected_gene': 'LRRC8B', 'score': 1.6}, {'connected_gene': 'LRRC8D', 'score': 1.17}, {'connected_gene': 'LOC100505788', 'score': 0.39}, {'connected_gene': 'GC01P089694', 'score': 0.34}, {'connected_gene': 'ENSG00000271949', 'score': 0.28}, {'connected_gene': 'ENSG00000230735', 'score': 0.26}]
chr1 GH01I089631 89631751 89637924 2.51 [{'connected_gene': 'LRRC8C', 'score': 572.06}, {'connected_gene': 'ENSG00000271949', 'score': 550.77}, {'connected_gene': 'LRRC8C-DT', 'score': 550.77}, {'connected_gene': 'LOC101927975', 'score': 9.09}, {'connected_gene': 'LRRC8D', 'score': 5.35}, {'connected_gene': 'GBP4', 'score': 4.33}, {'connected_gene': 'GBP5', 'score': 2.46}, {'connected_gene': 'ZNF326', 'score': 1.76}, {'connected_gene': 'LRRC8B', 'score': 1.54}, {'connected_gene': 'ENSG00000230735', 'score': 0.44}, {'connected_gene': 'LOC100505788', 'score': 0.31}]
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 GH01I089669 89669328 89671421 1.48 [{'connected_gene': 'LRRC8C', 'score': 25.28}, {'connected_gene': 'LOC101927975', 'score': 15.34}, {'connected_gene': 'LRRC8C-DT', 'score': 11.94}, {'connected_gene': 'GBP4', 'score': 11.37}, {'connected_gene': 'GBP5', 'score': 10.59}, {'connected_gene': 'LRRC8D', 'score': 9.96}, {'connected_gene': 'ZNF326', 'score': 3.01}, {'connected_gene': 'LRRC8B', 'score': 1.38}, {'connected_gene': 'LOC100505788', 'score': 0.44}, {'connected_gene': 'GC01P089694', 'score': 0.34}, {'connected_gene': 'ENSG00000271949', 'score': 0.28}, {'connected_gene': 'ENSG00000230735', 'score': 0.26}]
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 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 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 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 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 GH01I089197 89197556 89201698 2.06 [{'connected_gene': 'GBP4', 'score': 550.77}, {'connected_gene': 'ENSG00000284734', 'score': 550.77}, {'connected_gene': 'GBP3', 'score': 22.67}, {'connected_gene': 'GBP7', 'score': 14.98}, {'connected_gene': 'ENSG00000284637', 'score': 0.77}]
chr1 GH01I089276 89276798 89276947 0.58 [{'connected_gene': 'GBP4', 'score': 10.76}, {'connected_gene': 'GBP7', 'score': 9.72}, {'connected_gene': 'GBP5', 'score': 7.5}, {'connected_gene': 'GC01P089283', 'score': 0.44}, {'connected_gene': 'LOC100421401', 'score': 0.28}]
chr1 GH01I089358 89358600 89358800 0.63 [{'connected_gene': 'GBP4', 'score': 10.92}, {'connected_gene': 'GBP5', 'score': 10.74}, {'connected_gene': 'LRRC8B', 'score': 4.75}, {'connected_gene': 'GBP6', 'score': 0.44}, {'connected_gene': 'PIR56754', 'score': 0.37}]
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}]

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