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
ENST00000446702 [[1134259, 1134804], [1189610, 1189747], [1262370, 1262497], [1269501, 1269677], [1320096, 1320192], [1337284, 1337488], [1339572, 1339675], [1363333, 1363518], [1367498, 1367635], [1369140, 1369270], [1371468, 1371619], [1394007, 1394135], [1413982, 1414158], [1414521, 1414639], [1415287, 1415446], [1415607, 1415757], [1418688, 1418759], [1424625, 1424860], [1424976, 1425092], [1427294, 1427481], [1443116, 1443229], [1444001, 1444170], [1445001, 1445901]] [[1189692, 1189747], [1262370, 1262497], [1269501, 1269677], [1320096, 1320192], [1337284, 1337488], [1339572, 1339675], [1363333, 1363518], [1367498, 1367635], [1369140, 1369270], [1371468, 1371619], [1394007, 1394135], [1413982, 1414158], [1414521, 1414639], [1415287, 1415446], [1415607, 1415757], [1418688, 1418759], [1424625, 1424860], [1424976, 1425092], [1427294, 1427481], [1443116, 1443229], [1444001, 1444170], [1445001, 1445102]]
ENST00000397479 [[1134341, 1134804], [1262370, 1262497], [1269501, 1269677], [1320096, 1320192], [1337284, 1337488], [1339572, 1339675], [1363333, 1363518], [1367498, 1367635], [1369140, 1369270], [1371468, 1371619], [1394007, 1394135], [1413982, 1414158], [1414521, 1414639], [1415287, 1415446], [1415607, 1415757], [1418688, 1418759], [1424625, 1424860], [1424976, 1425092], [1427294, 1427481], [1443116, 1443229], [1444001, 1444170], [1445001, 1445126]] [[1134419, 1134611]]
ENST00000539053 [[1134341, 1134804], [1262370, 1262497], [1269501, 1269677], [1320096, 1320192], [1337284, 1337488], [1339572, 1339675], [1363333, 1363518], [1367498, 1367635], [1369140, 1369270], [1371468, 1371619], [1394007, 1394135], [1413982, 1414158], [1414521, 1414639], [1415287, 1415446], [1415607, 1415757], [1418688, 1418759], [1424625, 1424860], [1424976, 1425092], [1427294, 1427481], [1443116, 1443229], [1444001, 1444170], [1445001, 1445126]] [[1269535, 1269677], [1320096, 1320192], [1337284, 1337488], [1339572, 1339675], [1363333, 1363518], [1367498, 1367635], [1369140, 1369270], [1371468, 1371619], [1394007, 1394135], [1413982, 1414158], [1414521, 1414639], [1415287, 1415446], [1415607, 1415757], [1418688, 1418759], [1424625, 1424860], [1424976, 1425092], [1427294, 1427481], [1443116, 1443229], [1444001, 1444170], [1445001, 1445102]]
ENST00000350110 [[1134344, 1134813], [1189610, 1189747], [1262370, 1262497], [1269501, 1269677], [1320096, 1320192], [1337284, 1337488], [1339572, 1339675], [1363333, 1363518], [1367498, 1367635], [1369140, 1369270], [1371468, 1371619], [1394007, 1394135], [1413982, 1414158], [1414521, 1414639], [1415287, 1415446], [1415607, 1415757], [1418688, 1418759], [1424625, 1424860], [1424976, 1425092], [1427294, 1427481], [1443116, 1443229], [1444001, 1444170], [1445001, 1445278]] [[1189692, 1189747], [1262370, 1262497], [1269501, 1269677], [1320096, 1320192], [1337284, 1337488], [1339572, 1339675], [1363333, 1363518], [1367498, 1367635], [1369140, 1369270], [1371468, 1371619], [1394007, 1394135], [1413982, 1414158], [1414521, 1414639], [1415287, 1415446], [1415607, 1415757], [1418688, 1418759], [1424625, 1424860], [1424976, 1425092], [1427294, 1427481], [1443116, 1443229], [1444001, 1444170], [1445001, 1445102]]
ENST00000413210 [[1134405, 1134804], [1169950, 1170061], [1189610, 1189651]] [[1134419, 1134611]]
ENST00000394261 [[1134707, 1134804], [1189610, 1189747], [1214887, 1215002], [1262370, 1262497], [1269501, 1269677], [1320096, 1320192], [1337284, 1337488], [1339572, 1340053]] [[1189703, 1189747], [1214887, 1214969]]
ENST00000485257 [[1442968, 1443229], [1444001, 1444485]] None
NM_001289081 [[1134341, 1134804], [1262370, 1262497], [1269501, 1269677], [1320096, 1320192], [1337284, 1337488], [1339572, 1339675], [1363333, 1363518], [1367498, 1367635], [1369140, 1369270], [1371468, 1371619], [1394007, 1394135], [1413982, 1414158], [1414521, 1414639], [1415287, 1415446], [1415607, 1415757], [1418688, 1418759], [1424625, 1424860], [1424976, 1425092], [1427294, 1427481], [1443116, 1443229], [1444001, 1444170], [1445001, 1445294]] [[1269535, 1269677], [1320096, 1320192], [1337284, 1337488], [1339572, 1339675], [1363333, 1363518], [1367498, 1367635], [1369140, 1369270], [1371468, 1371619], [1394007, 1394135], [1413982, 1414158], [1414521, 1414639], [1415287, 1415446], [1415607, 1415757], [1418688, 1418759], [1424625, 1424860], [1424976, 1425092], [1427294, 1427481], [1443116, 1443229], [1444001, 1444170], [1445001, 1445102]]
NM_001289080 [[1134341, 1134804], [1189610, 1189747], [1262370, 1262497], [1269501, 1269677], [1320096, 1320192], [1337284, 1337488], [1339572, 1339675], [1363333, 1363518], [1367498, 1367635], [1369140, 1369270], [1371468, 1371619], [1394007, 1394135], [1413982, 1414158], [1414521, 1414639], [1415287, 1415446], [1415607, 1415757], [1418688, 1418759], [1424625, 1424860], [1424976, 1425092], [1427294, 1427481], [1443116, 1443229], [1444001, 1444170], [1445001, 1445294]] [[1189692, 1189747], [1262370, 1262497], [1269501, 1269677], [1320096, 1320192], [1337284, 1337488], [1339572, 1339675], [1363333, 1363518], [1367498, 1367635], [1369140, 1369270], [1371468, 1371619], [1394007, 1394135], [1413982, 1414158], [1414521, 1414639], [1415287, 1415446], [1415607, 1415757], [1418688, 1418759], [1424625, 1424860], [1424976, 1425092], [1427294, 1427481], [1443116, 1443229], [1444001, 1444170], [1445001, 1445102]]
NM_014461 [[1134341, 1134813], [1189610, 1189747], [1262370, 1262497], [1269501, 1269677], [1320096, 1320192], [1337284, 1337488], [1339572, 1339675], [1363333, 1363518], [1367498, 1367635], [1369140, 1369270], [1371468, 1371619], [1394007, 1394135], [1413982, 1414158], [1414521, 1414639], [1415287, 1415446], [1415607, 1415757], [1418688, 1418759], [1424625, 1424860], [1424976, 1425092], [1427294, 1427481], [1443116, 1443229], [1444001, 1444170], [1445001, 1445294]] [[1189692, 1189747], [1262370, 1262497], [1269501, 1269677], [1320096, 1320192], [1337284, 1337488], [1339572, 1339675], [1363333, 1363518], [1367498, 1367635], [1369140, 1369270], [1371468, 1371619], [1394007, 1394135], [1413982, 1414158], [1414521, 1414639], [1415287, 1415446], [1415607, 1415757], [1418688, 1418759], [1424625, 1424860], [1424976, 1425092], [1427294, 1427481], [1443116, 1443229], [1444001, 1444170], [1445001, 1445102]]
Promoter
Chrom Start End Description
chr3 1134339 1134350 CAGE_peak_5_at_CNTN6_5end
chr3 1134366 1134376 CAGE_peak_8_at_CNTN6_5end
chr3 1134400 1134417 CAGE_peak_3_at_CNTN6_5end
chr3 1134589 1134643 CAGE_peak_2_at_CNTN6_5end
chr3 1134664 1134715 CAGE_peak_1_at_CNTN6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I001086 1086989 1087959 0.76 [{'connected_gene': 'CNTN6', 'score': 10.53}, {'connected_gene': 'RN7SL120P', 'score': 0.34}, {'connected_gene': 'GC03P001114', 'score': 0.31}]
chr3 GH03I001092 1092463 1093498 1.01 [{'connected_gene': 'CNTN6', 'score': 580.51}, {'connected_gene': 'GC03P001114', 'score': 0.34}, {'connected_gene': 'RN7SL120P', 'score': 0.31}]
chr3 GH03I001117 1117790 1118707 0.52 [{'connected_gene': 'CNTN6', 'score': 17.47}, {'connected_gene': 'GC03P001114', 'score': 0.77}, {'connected_gene': 'LOC105376924', 'score': 0.25}]
chr3 GH03I001183 1183737 1183886 0.46 [{'connected_gene': 'CNTN6', 'score': 10.08}, {'connected_gene': 'LOC105376923', 'score': 0.39}, {'connected_gene': 'LOC105376924', 'score': 0.37}, {'connected_gene': 'GC03P001114', 'score': 0.2}]
chr3 GH03I001197 1197197 1197209 0.2 [{'connected_gene': 'LOC105376923', 'score': 0.77}, {'connected_gene': 'GC03P001114', 'score': 0.18}, {'connected_gene': 'CNTN6', 'score': 0.09}, {'connected_gene': 'CRB3P1', 'score': 0.08}]