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
ENST00000536642 [[64008474, 64008604], [64009855, 64010030], [64010670, 64010783], [64010922, 64011141]] None
ENST00000309366 [[64008475, 64008604], [64009855, 64010030], [64010670, 64010783], [64010922, 64010969], [64011312, 64011348], [64011439, 64011596]] [[64009859, 64010030], [64010670, 64010783], [64010922, 64010969], [64011312, 64011348], [64011439, 64011501]]
ENST00000541388 [[64008545, 64008604], [64009855, 64010030], [64010670, 64010969], [64011312, 64011348], [64011439, 64011575]] None
ENST00000449942 [[64008627, 64008710], [64009855, 64010030], [64010670, 64010783], [64010922, 64010969], [64011312, 64011348], [64011439, 64011598]] [[64009859, 64010030], [64010670, 64010783], [64010922, 64010969], [64011312, 64011348], [64011439, 64011501]]
ENST00000535135 [[64009137, 64009466], [64009855, 64010030], [64010670, 64010783], [64010922, 64010944]] [[64009859, 64010030], [64010670, 64010783], [64010922, 64010944]]
ENST00000394540 [[64009219, 64009685], [64009855, 64010030], [64010670, 64010783], [64010922, 64010969], [64011312, 64011348], [64011439, 64011604]] [[64009859, 64010030], [64010670, 64010783], [64010922, 64010969], [64011312, 64011348], [64011439, 64011501]]
NM_004470 [[64008412, 64008604], [64009855, 64010030], [64010670, 64010783], [64010922, 64010969], [64011312, 64011348], [64011439, 64011607]] [[64009859, 64010030], [64010670, 64010783], [64010922, 64010969], [64011312, 64011348], [64011439, 64011501]]
NM_001135208 [[64008603, 64008710], [64009855, 64010030], [64010670, 64010783], [64010922, 64010969], [64011312, 64011348], [64011439, 64011607]] [[64009859, 64010030], [64010670, 64010783], [64010922, 64010969], [64011312, 64011348], [64011439, 64011501]]
NM_057092 [[64009587, 64009685], [64009855, 64010030], [64010670, 64010783], [64010922, 64010969], [64011312, 64011348], [64011439, 64011607]] [[64009859, 64010030], [64010670, 64010783], [64010922, 64010969], [64011312, 64011348], [64011439, 64011501]]
Promoter
Chrom Start End Description
chr11 64008110 64008119 CAGE_peak_23_at_FKBP2_5end
chr11 64008133 64008168 CAGE_peak_11_at_FKBP2_5end
chr11 64008422 64008431 CAGE_peak_6_at_FKBP2_5end
chr11 64008443 64008477 CAGE_peak_3_at_FKBP2_5end
chr11 64008483 64008494 CAGE_peak_4_at_FKBP2_5end
chr11 64008525 64008585 CAGE_peak_1_at_FKBP2_5end
chr11 64008991 64009014 CAGE_peak_8_at_FKBP2_5end
chr11 64009072 64009137 CAGE_peak_2_at_FKBP2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I064354 64354689 64361259 2.72 [{'connected_gene': 'RPS6KA4', 'score': 559.68}, {'connected_gene': 'LOC102723878', 'score': 20.26}, {'connected_gene': 'PLCB3', 'score': 13.55}, {'connected_gene': 'ENSG00000231680', 'score': 6.78}, {'connected_gene': 'TRPT1', 'score': 4.82}, {'connected_gene': 'MARK2', 'score': 4.13}, {'connected_gene': 'PPP1R14B', 'score': 3.69}, {'connected_gene': 'ESRRA', 'score': 3.36}, {'connected_gene': 'PRDX5', 'score': 2.81}, {'connected_gene': 'TRMT112', 'score': 2.76}, {'connected_gene': 'BAD', 'score': 2.56}, {'connected_gene': 'NUDT22', 'score': 2.25}, {'connected_gene': 'CDC42BPG', 'score': 1.9}, {'connected_gene': 'FKBP2', 'score': 1.29}, {'connected_gene': 'GC11M064349', 'score': 0.77}, {'connected_gene': 'CCDC88B', 'score': 0.37}]
chr11 GH11I064093 64093372 64095726 1.24 [{'connected_gene': 'PLCB3', 'score': 17.24}, {'connected_gene': 'SF1', 'score': 16.07}, {'connected_gene': 'ENSG00000256341', 'score': 11.89}, {'connected_gene': 'ZFPL1', 'score': 10.37}, {'connected_gene': 'NAALADL1', 'score': 10.36}, {'connected_gene': 'TRPT1', 'score': 9.42}, {'connected_gene': 'VEGFB', 'score': 6.92}, {'connected_gene': 'NRXN2', 'score': 4.55}, {'connected_gene': 'FKBP2', 'score': 4.31}, {'connected_gene': 'ENSG00000256481', 'score': 0.39}, {'connected_gene': 'PIR46997', 'score': 0.34}, {'connected_gene': 'FLRT1', 'score': 0.22}, {'connected_gene': 'ENSG00000256824', 'score': 0.22}, {'connected_gene': 'MACROD1', 'score': 0.19}]
chr11 GH11I064237 64237035 64253602 2.32 [{'connected_gene': 'PPP1R14B', 'score': 572.68}, {'connected_gene': 'FKBP2', 'score': 550.77}, {'connected_gene': 'LOC105369340', 'score': 550.77}, {'connected_gene': 'PLCB3', 'score': 550.44}, {'connected_gene': 'TRPT1', 'score': 23.86}, {'connected_gene': 'LOC102723878', 'score': 22.35}, {'connected_gene': 'VEGFB', 'score': 19.71}, {'connected_gene': 'TRMT112', 'score': 17.45}, {'connected_gene': 'FERMT3', 'score': 12.7}, {'connected_gene': 'GPR137', 'score': 11.63}, {'connected_gene': 'BAD', 'score': 11.57}, {'connected_gene': 'ENSG00000257086', 'score': 6.66}, {'connected_gene': 'ENSG00000256116', 'score': 5.79}, {'connected_gene': 'FLRT1', 'score': 5.1}, {'connected_gene': 'PIR60417', 'score': 0.44}]
chr11 GH11I064215 64215169 64215258 0.49 [{'connected_gene': 'FKBP2', 'score': 12.56}, {'connected_gene': 'LOC105369340', 'score': 12.55}, {'connected_gene': 'ENSG00000257086', 'score': 12.55}, {'connected_gene': 'PPP1R14B', 'score': 12.55}, {'connected_gene': 'PLCB3', 'score': 12.53}, {'connected_gene': 'GPR137', 'score': 11.59}, {'connected_gene': 'BAD', 'score': 11.56}, {'connected_gene': 'MACROD1', 'score': 10.78}, {'connected_gene': 'FERMT3', 'score': 0.44}, {'connected_gene': 'NUDT22', 'score': 0.39}]
chr11 GH11I063999 63998949 64000024 1.39 [{'connected_gene': 'LOC101927673', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 15.23}, {'connected_gene': 'ENSG00000257086', 'score': 11.6}, {'connected_gene': 'MEN1', 'score': 10.84}, {'connected_gene': 'OTUB1', 'score': 10.32}, {'connected_gene': 'RARRES3', 'score': 4.64}, {'connected_gene': 'NAA40', 'score': 4.6}, {'connected_gene': 'FKBP2', 'score': 4.29}, {'connected_gene': 'GC11P063911', 'score': 0.16}, {'connected_gene': 'MACROD1', 'score': 0.1}]
chr11 GH11I064090 64090801 64091800 1.4 [{'connected_gene': 'ENSG00000256341', 'score': 11.77}, {'connected_gene': 'TRPT1', 'score': 9.23}, {'connected_gene': 'LOC102723878', 'score': 5.02}, {'connected_gene': 'FKBP2', 'score': 4.29}, {'connected_gene': 'ENSG00000256481', 'score': 0.44}, {'connected_gene': 'PIR46997', 'score': 0.31}, {'connected_gene': 'FLRT1', 'score': 0.22}, {'connected_gene': 'ENSG00000256824', 'score': 0.22}, {'connected_gene': 'MACROD1', 'score': 0.19}]