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
ENST00000349155 [[115108058, 115110107], [115111969, 115112640], [115114117, 115114275], [115115384, 115115461], [115117309, 115117456], [115118683, 115118951], [115120616, 115121969]] [[115109645, 115110107], [115111969, 115112640], [115114117, 115114275], [115115384, 115115461], [115117309, 115117456], [115118683, 115118951], [115120616, 115121005]]
ENST00000257566 [[115108059, 115110107], [115111969, 115112640], [115114117, 115114275], [115115384, 115115461], [115117309, 115117456], [115117717, 115117777], [115118683, 115118951], [115120616, 115121395]] [[115109645, 115110107], [115111969, 115112640], [115114117, 115114275], [115115384, 115115461], [115117309, 115117456], [115117717, 115117777], [115118683, 115118951], [115120616, 115121005]]
ENST00000548503 [[115115396, 115115461], [115117309, 115117738]] None
ENST00000552054 [[115117760, 115118951], [115120616, 115121239]] None
NM_016569 [[115108058, 115110107], [115111969, 115112640], [115114117, 115114275], [115115384, 115115461], [115117309, 115117456], [115117717, 115117777], [115118683, 115118951], [115120616, 115121969]] [[115109645, 115110107], [115111969, 115112640], [115114117, 115114275], [115115384, 115115461], [115117309, 115117456], [115117717, 115117777], [115118683, 115118951], [115120616, 115121005]]
NM_005996 [[115108058, 115110107], [115111969, 115112640], [115114117, 115114275], [115115384, 115115461], [115117309, 115117456], [115118683, 115118951], [115120616, 115121969]] [[115109645, 115110107], [115111969, 115112640], [115114117, 115114275], [115115384, 115115461], [115117309, 115117456], [115118683, 115118951], [115120616, 115121005]]
Promoter
Chrom Start End Description
chr12 115121587 115121597 CAGE_peak_10_at_TBX3_5end
chr12 115121770 115121781 CAGE_peak_4_at_TBX3_5end
chr12 115121802 115121814 CAGE_peak_5_at_TBX3_5end
chr12 115121962 115121987 CAGE_peak_1_at_TBX3_5end
chr12 115122005 115122016 CAGE_peak_3_at_TBX3_5end
chr12 115122224 115122233 CAGE_peak_12_at_TBX3_5end
chr12 115122262 115122271 CAGE_peak_7_at_TBX3_5end
chr12 115122297 115122302 CAGE_peak_15_at_TBX3_5end
chr12 115122303 115122314 CAGE_peak_6_at_TBX3_5end
chr12 115122318 115122331 CAGE_peak_2_at_TBX3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I114663 114663952 114689575 3.13 [{'connected_gene': 'TBX3', 'score': 558.33}, {'connected_gene': 'RBM19', 'score': 66.64}, {'connected_gene': 'LOC105370000', 'score': 6.28}, {'connected_gene': 'GC12M114672', 'score': 0.77}, {'connected_gene': 'GC12P114687', 'score': 0.44}, {'connected_gene': 'GC12P114686', 'score': 0.44}, {'connected_gene': 'PIR34512', 'score': 0.44}, {'connected_gene': 'GC12P114684', 'score': 0.44}]
chr12 GH12I114742 114742051 114742820 0.4 [{'connected_gene': 'TBX3', 'score': 10.38}, {'connected_gene': 'ENSG00000252459', 'score': 0.77}, {'connected_gene': 'GC12P114750', 'score': 0.44}, {'connected_gene': 'LOC105370000', 'score': 0.31}]
chr12 GH12I114690 114690050 114693626 1.24 [{'connected_gene': 'TBX3', 'score': 8.74}, {'connected_gene': 'LOC105370000', 'score': 8.42}, {'connected_gene': 'GC12P114686', 'score': 0.44}]
chr12 GH12I114740 114740688 114741298 0.38 [{'connected_gene': 'TBX3', 'score': 10.53}, {'connected_gene': 'ENSG00000252459', 'score': 0.77}, {'connected_gene': 'GC12P114750', 'score': 0.44}, {'connected_gene': 'LOC105370000', 'score': 0.31}]
chr12 GH12I114744 114744135 114748196 0.92 [{'connected_gene': 'TBX3', 'score': 10.82}, {'connected_gene': 'GC12P114750', 'score': 0.77}, {'connected_gene': 'ENSG00000252459', 'score': 0.44}, {'connected_gene': 'LOC105370000', 'score': 0.29}]
chr12 GH12I114701 114701008 114701390 0.39 [{'connected_gene': 'TBX3', 'score': 1.65}, {'connected_gene': 'LOC105370000', 'score': 0.39}, {'connected_gene': 'GC12P114686', 'score': 0.37}]
chr12 GH12I114732 114732474 114732989 0.49 [{'connected_gene': 'TBX3', 'score': 10.72}, {'connected_gene': 'LOC105369999', 'score': 0.77}, {'connected_gene': 'LOC105370000', 'score': 0.37}]
chr12 GH12I114625 114625271 114626005 0.73 [{'connected_gene': 'TBX3', 'score': 10.03}, {'connected_gene': 'ENSG00000258254', 'score': 0.77}, {'connected_gene': 'GC12M114639', 'score': 0.37}]
chr12 GH12I114655 114655082 114659783 1.4 [{'connected_gene': 'ENSG00000199220', 'score': 550.77}, {'connected_gene': 'GC12M114659', 'score': 550.77}, {'connected_gene': 'RBM19', 'score': 41.15}, {'connected_gene': 'TBX3', 'score': 11.66}, {'connected_gene': 'GC12M114639', 'score': 0.37}]