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
ENST00000338040 [[121311965, 121312349], [121339392, 121339425], [121340279, 121342190], [121345541, 121349139]] [[121339422, 121339425], [121340279, 121342190], [121345541, 121345757]]
NM_016298 [[121312169, 121312349], [121339392, 121339425], [121340279, 121342190], [121345541, 121349139]] [[121339422, 121339425], [121340279, 121342190], [121345541, 121345757]]
Promoter
Chrom Start End Description
chr3 121312209 121312244 CAGE_peak_1_at_FBXO40_5end
chr3 121312289 121312298 CAGE_peak_2_at_FBXO40_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I121624 121624141 121625413 0.31 [{'connected_gene': 'IQCB1', 'score': 23.38}, {'connected_gene': 'SLC15A2', 'score': 6.37}, {'connected_gene': 'HCLS1', 'score': 5.89}, {'connected_gene': 'RN7SL172P', 'score': 0.31}, {'connected_gene': 'FBXO40', 'score': 0.29}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3 GH03I121625 121625611 121628282 0.2 [{'connected_gene': 'IQCB1', 'score': 23.38}, {'connected_gene': 'SLC15A2', 'score': 6.37}, {'connected_gene': 'HCLS1', 'score': 6.06}, {'connected_gene': 'RN7SL172P', 'score': 0.31}, {'connected_gene': 'FBXO40', 'score': 0.29}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3 GH03I121603 121603875 121604388 0.2 [{'connected_gene': 'IQCB1', 'score': 4.8}, {'connected_gene': 'FBXO40', 'score': 0.39}, {'connected_gene': 'RN7SL172P', 'score': 0.23}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3 GH03I121615 121615691 121616716 0.38 [{'connected_gene': 'IQCB1', 'score': 5.54}, {'connected_gene': 'FBXO40', 'score': 0.34}, {'connected_gene': 'RN7SL172P', 'score': 0.28}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3 GH03I121614 121614233 121615078 0.2 [{'connected_gene': 'IQCB1', 'score': 5.66}, {'connected_gene': 'FBXO40', 'score': 0.34}, {'connected_gene': 'RN7SL172P', 'score': 0.28}, {'connected_gene': 'GC03M121324', 'score': 0.04}]
chr3 GH03I121612 121612956 121613661 0.31 [{'connected_gene': 'IQCB1', 'score': 5.91}, {'connected_gene': 'FBXO40', 'score': 0.34}, {'connected_gene': 'RN7SL172P', 'score': 0.26}, {'connected_gene': 'GC03M121324', 'score': 0.04}]
chr3 GH03I121605 121605117 121606616 0.43 [{'connected_gene': 'IQCB1', 'score': 4.73}, {'connected_gene': 'FBXO40', 'score': 0.39}, {'connected_gene': 'RN7SL172P', 'score': 0.25}, {'connected_gene': 'GC03M121324', 'score': 0.04}]
chr3 GH03I121607 121607719 121608837 0.2 [{'connected_gene': 'SLC15A2', 'score': 4.9}, {'connected_gene': 'IQCB1', 'score': 4.43}, {'connected_gene': 'FBXO40', 'score': 0.37}, {'connected_gene': 'RN7SL172P', 'score': 0.25}, {'connected_gene': 'GC03M121324', 'score': 0.04}]
chr3 GH03I121591 121591901 121594537 1.38 [{'connected_gene': 'FBXO40', 'score': 550.77}, {'connected_gene': 'IQCB1', 'score': 4.77}, {'connected_gene': 'RN7SL172P', 'score': 0.21}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3 GH03I121610 121610725 121611224 0.2 [{'connected_gene': 'FBXO40', 'score': 0.37}, {'connected_gene': 'RN7SL172P', 'score': 0.26}, {'connected_gene': 'GC03M121324', 'score': 0.04}]
chr3 GH03I121599 121599775 121603764 0.43 [{'connected_gene': 'POLQ', 'score': 10.74}, {'connected_gene': 'IQCB1', 'score': 4.74}, {'connected_gene': 'FBXO40', 'score': 0.44}, {'connected_gene': 'RN7SL172P', 'score': 0.23}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3 GH03I121574 121574574 121574683 0.8 [{'connected_gene': 'POLQ', 'score': 12.25}, {'connected_gene': 'CSTA', 'score': 10.45}, {'connected_gene': 'ARGFX', 'score': 0.39}, {'connected_gene': 'FBXO40', 'score': 0.37}, {'connected_gene': 'GC03M121324', 'score': 0.04}]
chr3 GH03I121609 121609253 121610723 0.2 [{'connected_gene': 'HCLS1', 'score': 4.87}, {'connected_gene': 'EAF2', 'score': 4.72}, {'connected_gene': 'IQCB1', 'score': 4.68}, {'connected_gene': 'FBXO40', 'score': 0.37}, {'connected_gene': 'RN7SL172P', 'score': 0.26}, {'connected_gene': 'GC03M121324', 'score': 0.04}]
chr3 GH03I121628 121628723 121630973 0.31 [{'connected_gene': 'HCLS1', 'score': 5.96}, {'connected_gene': 'RN7SL172P', 'score': 0.34}, {'connected_gene': 'FBXO40', 'score': 0.28}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3 GH03I121648 121648734 121648883 0.38 [{'connected_gene': 'RN7SL172P', 'score': 0.44}, {'connected_gene': 'HCLS1', 'score': 0.39}, {'connected_gene': 'FBXO40', 'score': 0.22}, {'connected_gene': 'GC03M121324', 'score': 0.05}]