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
ENST00000506455 [[156587862, 156588117], [156588497, 156588571], [156617907, 156618274], [156625083, 156625145], [156629387, 156629446], [156631693, 156632403], [156634249, 156634735], [156638310, 156638454], [156643189, 156643344], [156651181, 156651584]] [[156618019, 156618274], [156625083, 156625145], [156629387, 156629446], [156631693, 156632403], [156634249, 156634735], [156638310, 156638454], [156643189, 156643344], [156651181, 156651383]]
ENST00000511108 [[156587877, 156588117], [156588497, 156588571], [156589241, 156589335], [156617907, 156618274], [156625083, 156625145], [156629387, 156629446], [156631693, 156632403], [156634249, 156634735], [156638310, 156638454], [156643189, 156643344], [156651181, 156651782]] [[156618019, 156618274], [156625083, 156625145], [156629387, 156629446], [156631693, 156632403], [156634249, 156634735], [156638310, 156638454], [156643189, 156643344], [156651181, 156651383]]
ENST00000512983 [[156587979, 156588117], [156588497, 156588571], [156617907, 156618274], [156625083, 156625145], [156629387, 156629446], [156631693, 156632533]] None
ENST00000511507 [[156587999, 156588117], [156588497, 156588571], [156617907, 156618274], [156625083, 156625145], [156629387, 156629446], [156631693, 156632403], [156634249, 156634735], [156638310, 156638454], [156643189, 156643721]] [[156618019, 156618274], [156625083, 156625145], [156629387, 156629446], [156631693, 156632403], [156634249, 156634735], [156638310, 156638454], [156643189, 156643348]]
ENST00000515602 [[156588087, 156588117], [156588497, 156588571], [156617907, 156618001], [156618086, 156618274], [156625083, 156625145], [156629387, 156629446], [156631693, 156631763]] None
ENST00000455639 [[156588114, 156588351], [156588497, 156588571], [156617957, 156618274], [156625083, 156625145], [156629387, 156629446], [156631693, 156632403], [156634249, 156634735], [156638310, 156638454], [156643189, 156643344], [156651181, 156651568]] [[156618019, 156618274], [156625083, 156625145], [156629387, 156629446], [156631693, 156632403], [156634249, 156634735], [156638310, 156638454], [156643189, 156643344], [156651181, 156651383]]
ENST00000509901 [[156588193, 156588372], [156588497, 156588571], [156617907, 156618212], [156638310, 156638454], [156643189, 156643344], [156651181, 156651597]] [[156618019, 156618212], [156638310, 156638366]]
ENST00000443668 [[156588255, 156588372], [156588497, 156588571], [156617907, 156618274], [156625083, 156625145], [156629387, 156629446], [156631833, 156632403], [156634249, 156634735], [156638310, 156638454], [156643189, 156643344], [156651181, 156653499]] [[156618019, 156618274], [156625083, 156625145], [156629387, 156629446], [156631833, 156631874]]
ENST00000393832 [[156588280, 156588372], [156588497, 156588571], [156618086, 156618274], [156625083, 156625145], [156629387, 156629446], [156631693, 156632403], [156634249, 156634735], [156638310, 156638454], [156643189, 156643344], [156651181, 156653497]] [[156632091, 156632403], [156634249, 156634735], [156638310, 156638454], [156643189, 156643344], [156651181, 156651383]]
ENST00000296518 [[156588349, 156588372], [156588497, 156588571], [156617907, 156618274], [156625083, 156625145], [156629387, 156629446], [156631693, 156632403], [156634249, 156634735], [156638310, 156638454], [156643189, 156643344], [156651181, 156653501]] [[156618019, 156618274], [156625083, 156625145], [156629387, 156629446], [156631693, 156632403], [156634249, 156634735], [156638310, 156638454], [156643189, 156643344], [156651181, 156651383]]
ENST00000515201 [[156588489, 156588571], [156617907, 156618274], [156625083, 156625145], [156629387, 156629446], [156638310, 156638454], [156643189, 156643344], [156651181, 156651594]] [[156618019, 156618274], [156625083, 156625145], [156629387, 156629446], [156638310, 156638366]]
ENST00000513574 [[156588814, 156589084], [156617907, 156618274], [156625083, 156625145], [156629387, 156629446], [156631693, 156632403], [156634249, 156634735], [156638310, 156638454], [156643189, 156643344], [156651181, 156651584]] [[156618019, 156618274], [156625083, 156625145], [156629387, 156629446], [156631693, 156632403], [156634249, 156634735], [156638310, 156638454], [156643189, 156643344], [156651181, 156651383]]
Promoter
Chrom Start End Description
chr4 156587853 156587884 CAGE_peak_5_at_GUCY1A3_5end
chr4 156587946 156587975 CAGE_peak_2_at_GUCY1A3_5end
chr4 156587979 156588015 CAGE_peak_1_at_GUCY1A3_5end
chr4 156588081 156588093 CAGE_peak_9_at_GUCY1A3_5end
chr4 156588133 156588154 CAGE_peak_10_at_GUCY1A3_5end
chr4 156588249 156588260 CAGE_peak_13_at_GUCY1A3_5end
chr4 156588397 156588406 CAGE_peak_14_at_GUCY1A3_5end
chr4 156588447 156588458 CAGE_peak_12_at_GUCY1A3_5end
chr4 156588481 156588516 CAGE_peak_4_at_GUCY1A3_5end
chr4 156588524 156588548 CAGE_peak_7_at_GUCY1A3_5end
chr4 156588806 156588823 CAGE_peak_3_at_GUCY1A3_5end
chr4 156588844 156588864 CAGE_peak_8_at_GUCY1A3_5end
chr4 156588865 156588882 CAGE_peak_6_at_GUCY1A3_5end
chr4 156588927 156588939 CAGE_peak_11_at_GUCY1A3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I155525 155525989 155527435 0.58 [{'connected_gene': 'GUCY1B1', 'score': 10.8}, {'connected_gene': 'GUCY1A1', 'score': 8.09}, {'connected_gene': 'LOC105377504', 'score': 0.77}]
chr4 GH04I155628 155628542 155630364 0.69 [{'connected_gene': 'GUCY1B1', 'score': 10.66}, {'connected_gene': 'GUCY1A1', 'score': 7.67}, {'connected_gene': 'LOC105377504', 'score': 0.14}]
chr4 GH04I155683 155683479 155685502 0.54 [{'connected_gene': 'GUCY1B1', 'score': 11.43}, {'connected_gene': 'GUCY1A1', 'score': 0.37}, {'connected_gene': 'ENSG00000260244', 'score': 0.25}]
chr4 GH04I155675 155675582 155677051 1.25 [{'connected_gene': 'GUCY1B1', 'score': 11.22}, {'connected_gene': 'GUCY1A1', 'score': 0.44}, {'connected_gene': 'ENSG00000260244', 'score': 0.22}]
chr4 GH04I155679 155679325 155682755 0.72 [{'connected_gene': 'GUCY1B1', 'score': 11.42}, {'connected_gene': 'GUCY1A1', 'score': 0.39}, {'connected_gene': 'ENSG00000260244', 'score': 0.23}]
chr4 GH04I155543 155543198 155543670 0.31 [{'connected_gene': 'GUCY1B1', 'score': 10.87}, {'connected_gene': 'LOC105377504', 'score': 0.34}, {'connected_gene': 'GUCY1A1', 'score': 0.13}]
chr4 GH04I155591 155591855 155593418 0.38 [{'connected_gene': 'GUCY1A1', 'score': 11.32}, {'connected_gene': 'GUCY1B1', 'score': 10.21}, {'connected_gene': 'LOC105377504', 'score': 0.2}]
chr4 GH04I155693 155693210 155693899 0.2 [{'connected_gene': 'GUCY1A1', 'score': 13.02}, {'connected_gene': 'GUCY1B1', 'score': 10.42}, {'connected_gene': 'ENSG00000260244', 'score': 0.26}]
chr4 GH04I155722 155722623 155723360 0.31 [{'connected_gene': 'GUCY1A1', 'score': 11.24}, {'connected_gene': 'ENSG00000260244', 'score': 0.39}, {'connected_gene': 'LOC105377506', 'score': 0.28}, {'connected_gene': 'GC04M155710', 'score': 0.17}]
chr4 GH04I155637 155637454 155640403 0.82 [{'connected_gene': 'GUCY1A1', 'score': 12.51}, {'connected_gene': 'LOC105377504', 'score': 0.13}]
chr4 GH04I155604 155604364 155605512 0.46 [{'connected_gene': 'GUCY1A1', 'score': 8.81}, {'connected_gene': 'LOC105377504', 'score': 0.18}]
chr4 GH04I155666 155666261 155669468 2.09 [{'connected_gene': 'GUCY1A1', 'score': 550.77}, {'connected_gene': 'ENSG00000260244', 'score': 0.2}]
chr4 GH04I155673 155673288 155674042 0.52 [{'connected_gene': 'LOC107986321', 'score': 4.22}, {'connected_gene': 'GUCY1A1', 'score': 0.44}, {'connected_gene': 'ENSG00000260244', 'score': 0.21}]
chr4 GH04I155522 155522329 155522478 0.2 [{'connected_gene': 'LOC105377504', 'score': 550.77}, {'connected_gene': 'GUCY1A1', 'score': 8.2}, {'connected_gene': 'LOC105377505', 'score': 0.31}]
chr4 GH04I155582 155582749 155583818 1.02 [{'connected_gene': 'LOC105377504', 'score': 0.21}, {'connected_gene': 'GUCY1A1', 'score': 0.18}]
chr4 GH04I155566 155566108 155566777 0.2 [{'connected_gene': 'LOC105377504', 'score': 0.26}, {'connected_gene': 'GUCY1A1', 'score': 0.15}]

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