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
ENST00000383699 [[85008131, 85008819], [85775671, 85775698], [85851196, 85851346], [85932440, 85932593], [85935339, 85935477], [85961522, 85961693], [85984916, 85985007], [86010618, 86010797], [86114754, 86114880], [86115814, 86123579]] [[85008758, 85008819], [85775671, 85775698], [85851196, 85851346], [85932440, 85932593], [85935339, 85935477], [85961522, 85961693], [85984916, 85985007], [86010618, 86010797], [86114754, 86114880], [86115814, 86115933]]
ENST00000407528 [[85008696, 85008819], [85851196, 85851346], [85932440, 85932593], [85935339, 85935477], [85961522, 85961693], [85984916, 85985007], [86010618, 86010797], [86028313, 86028433], [86114754, 86114880], [86115814, 86115985]] [[85008758, 85008819], [85851196, 85851346], [85932440, 85932593], [85935339, 85935477], [85961522, 85961693], [85984916, 85985007], [86010618, 86010797], [86028313, 86028433], [86114754, 86114880], [86115814, 86115933]]
ENST00000405615 [[85775631, 85775698], [85851196, 85851346], [85932440, 85932593], [85935339, 85935477], [85961522, 85961693], [85984916, 85985007], [86010618, 86010797], [86028313, 86028433], [86114754, 86114880], [86115814, 86115933]] [[85775631, 85775698], [85851196, 85851346], [85932440, 85932593], [85935339, 85935477], [85961522, 85961693], [85984916, 85985007], [86010618, 86010797], [86028313, 86028433], [86114754, 86114880], [86115814, 86115933]]
ENST00000473523 [[85008139, 85008643], [85008740, 85008787]] None
ENST00000485126 [[85008155, 85008819], [85009247, 85009589]] None
NM_001167674 [[85008132, 85008819], [85851196, 85851346], [85932440, 85932593], [85935339, 85935477], [85961522, 85961693], [85984916, 85985007], [86010618, 86010797], [86028313, 86028433], [86114754, 86114880], [86115814, 86123579]] [[85008758, 85008819], [85851196, 85851346], [85932440, 85932593], [85935339, 85935477], [85961522, 85961693], [85984916, 85985007], [86010618, 86010797], [86028313, 86028433], [86114754, 86114880], [86115814, 86115933]]
NM_001167675 [[85008132, 85008819], [85775671, 85775698], [85851196, 85851346], [85932440, 85932593], [85935339, 85935477], [85961522, 85961693], [85984916, 85985007], [86010618, 86010797], [86114754, 86114880], [86115814, 86123579]] [[85008758, 85008819], [85775671, 85775698], [85851196, 85851346], [85932440, 85932593], [85935339, 85935477], [85961522, 85961693], [85984916, 85985007], [86010618, 86010797], [86114754, 86114880], [86115814, 86115933]]
NM_001256503 [[85554208, 85554400], [85561006, 85561048], [85932440, 85932593], [85935339, 85935477], [85961522, 85961693], [85984916, 85985007], [86010618, 86010797], [86028313, 86028433], [86114754, 86114880], [86115814, 86123579]] [[85932553, 85932593], [85935339, 85935477], [85961522, 85961693], [85984916, 85985007], [86010618, 86010797], [86028313, 86028433], [86114754, 86114880], [86115814, 86115933]]
NM_001256505 [[85554208, 85554400], [85561006, 85561048], [85851196, 85851346], [85932440, 85932593], [85935339, 85935477], [85961522, 85961693], [85984916, 85985007], [86010618, 86010797], [86114754, 86114880], [86115814, 86123579]] [[85932553, 85932593], [85935339, 85935477], [85961522, 85961693], [85984916, 85985007], [86010618, 86010797], [86114754, 86114880], [86115814, 86115933]]
NM_001256502 [[85554208, 85554400], [85561006, 85561048], [85851196, 85851346], [85932440, 85932593], [85935339, 85935477], [85961522, 85961693], [85984916, 85985007], [86010618, 86010797], [86028313, 86028433], [86114754, 86114880], [86115814, 86123579]] [[85932553, 85932593], [85935339, 85935477], [85961522, 85961693], [85984916, 85985007], [86010618, 86010797], [86028313, 86028433], [86114754, 86114880], [86115814, 86115933]]
NM_001256504 [[85554208, 85554400], [85561006, 85561048], [85775671, 85775698], [85851196, 85851346], [85932440, 85932593], [85935339, 85935477], [85961522, 85961693], [85984916, 85985007], [86010618, 86010797], [86114754, 86114880], [86115814, 86123579]] [[85932553, 85932593], [85935339, 85935477], [85961522, 85961693], [85984916, 85985007], [86010618, 86010797], [86114754, 86114880], [86115814, 86115933]]
NM_153184 [[85775631, 85775698], [85851196, 85851346], [85932440, 85932593], [85935339, 85935477], [85961522, 85961693], [85984916, 85985007], [86010618, 86010797], [86028313, 86028433], [86114754, 86114880], [86115814, 86123579]] [[85775631, 85775698], [85851196, 85851346], [85932440, 85932593], [85935339, 85935477], [85961522, 85961693], [85984916, 85985007], [86010618, 86010797], [86028313, 86028433], [86114754, 86114880], [86115814, 86115933]]
Promoter
Chrom Start End Description
chr3 85007662 85007678 CAGE_peak_8_at_CADM2_5end
chr3 85008089 85008189 CAGE_peak_1_at_CADM2_5end
chr3 85008200 85008248 CAGE_peak_2_at_CADM2_5end
chr3 86119561 86119570 CAGE_peak_16_at_CADM2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I085109 85109490 85109785 0.22 [{'connected_gene': 'CADM2', 'score': 4.63}, {'connected_gene': 'GC03P085129', 'score': 0.34}, {'connected_gene': 'GC03P085089', 'score': 0.34}]
chr3 GH03I084958 84958075 84960281 1.76 [{'connected_gene': 'CADM2', 'score': 555.2}, {'connected_gene': 'GC03P085012', 'score': 0.23}]
chr3 GH03I084964 84964730 84965755 0.49 [{'connected_gene': 'CADM2', 'score': 5.02}, {'connected_gene': 'GC03P085012', 'score': 0.25}]
chr3 GH03I085881 85881689 85881843 0.22 [{'connected_gene': 'CADM2-AS1', 'score': 5.04}, {'connected_gene': 'GC03M085902', 'score': 0.34}, {'connected_gene': 'GC03P085851', 'score': 0.29}, {'connected_gene': 'CADM2', 'score': 0.03}]
chr3 GH03I085161 85161186 85162304 0.6 [{'connected_gene': 'GC03M085156', 'score': 0.37}, {'connected_gene': 'GC03P085129', 'score': 0.29}, {'connected_gene': 'CADM2', 'score': 0.08}]
chr3 GH03I085163 85163031 85163180 0.52 [{'connected_gene': 'GC03M085156', 'score': 0.39}, {'connected_gene': 'GC03P085129', 'score': 0.29}, {'connected_gene': 'CADM2', 'score': 0.08}]
chr3 GH03I085071 85071374 85071504 0.22 [{'connected_gene': 'GC03M085046', 'score': 550.77}, {'connected_gene': 'CADM2', 'score': 2.05}, {'connected_gene': 'GC03P085012', 'score': 0.22}]
chr3 GH03I085726 85726431 85726580 0.68 [{'connected_gene': 'GC03P085763', 'score': 0.28}, {'connected_gene': 'GC03M085644', 'score': 0.28}, {'connected_gene': 'GC03P085652', 'score': 0.19}, {'connected_gene': 'CADM2', 'score': 0.02}]