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
ENST00000391759 [[54610319, 54610476], [54611332, 54611551], [54611632, 54611702], [54613433, 54613504], [54617821, 54618080], [54618626, 54619055]] [[54610356, 54610476], [54611332, 54611551], [54611632, 54611702], [54613433, 54613504], [54617821, 54618080], [54618626, 54618649]]
ENST00000391758 [[54610326, 54610476], [54611332, 54611551], [54611632, 54611702], [54613433, 54613504], [54617821, 54618080], [54618419, 54618454]] [[54610356, 54610476], [54611332, 54611551], [54611632, 54611702], [54613433, 54613504], [54617821, 54618076]]
ENST00000420715 [[54610326, 54610476], [54611332, 54611551], [54611632, 54611702], [54617821, 54618080], [54618626, 54618665]] [[54611666, 54611702], [54617821, 54618080], [54618626, 54618649]]
ENST00000391757 [[54610326, 54610476], [54611332, 54611514], [54611632, 54611702], [54613433, 54613504], [54617821, 54618080], [54618626, 54618668]] [[54611355, 54611514], [54611632, 54611702], [54613433, 54613504], [54617821, 54618080], [54618626, 54618649]]
NM_001321792 [[54610319, 54610476], [54611332, 54611551], [54611632, 54611702], [54613433, 54613504], [54617821, 54618080], [54618419, 54618454]] [[54610356, 54610476], [54611332, 54611551], [54611632, 54611702], [54613433, 54613504], [54617821, 54618076]]
NM_013342 [[54610319, 54610476], [54611332, 54611551], [54611632, 54611702], [54613433, 54613504], [54617821, 54618080], [54618626, 54619055]] [[54610356, 54610476], [54611332, 54611551], [54611632, 54611702], [54613433, 54613504], [54617821, 54618080], [54618626, 54618649]]
Promoter
Chrom Start End Description
chr19 54618650 54618688 CAGE_peak_3_at_TFPT_5end
chr19 54618690 54618734 CAGE_peak_2_at_TFPT_5end
chr19 54619006 54619046 CAGE_peak_1_at_TFPT_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I053864 53864030 53873798 2.58 [{'connected_gene': 'MYADM', 'score': 565.22}, {'connected_gene': 'LOC105372457', 'score': 550.77}, {'connected_gene': 'ENSG00000269001', 'score': 23.24}, {'connected_gene': 'ZNF845', 'score': 21.85}, {'connected_gene': 'ZNF765', 'score': 19.63}, {'connected_gene': 'ZNF816', 'score': 17.82}, {'connected_gene': 'LENG8', 'score': 16.99}, {'connected_gene': 'ENSG00000235681', 'score': 16.64}, {'connected_gene': 'ZNF813', 'score': 16.37}, {'connected_gene': 'TPM3P6', 'score': 16.28}, {'connected_gene': 'ZNF160', 'score': 15.96}, {'connected_gene': 'LENG8-AS1', 'score': 15.9}, {'connected_gene': 'ZNF525', 'score': 15.07}, {'connected_gene': 'ZNF761', 'score': 14.63}, {'connected_gene': 'CNOT3', 'score': 14.15}, {'connected_gene': 'ZNF665', 'score': 13.75}, {'connected_gene': 'TPM3P9', 'score': 11.39}, {'connected_gene': 'CDC42EP5', 'score': 10.69}, {'connected_gene': 'PRPF31', 'score': 10.35}, {'connected_gene': 'LENG1', 'score': 10.14}, {'connected_gene': 'ZNF888', 'score': 9.99}, {'connected_gene': 'PRKCG', 'score': 8.58}, {'connected_gene': 'NLRP12', 'score': 3.05}, {'connected_gene': 'MBOAT7', 'score': 2.63}, {'connected_gene': 'VSTM1', 'score': 2.52}, {'connected_gene': 'LILRA5', 'score': 2.13}, {'connected_gene': 'OSCAR', 'score': 2.05}, {'connected_gene': 'TFPT', 'score': 1.7}, {'connected_gene': 'LILRA6', 'score': 1.56}, {'connected_gene': 'LILRB2', 'score': 1.53}, {'connected_gene': 'LILRB3', 'score': 1.21}, {'connected_gene': 'ENSG00000232324', 'score': 0.77}]
chr19 GH19I053961 53961989 53962240 1.11 [{'connected_gene': 'CACNG8', 'score': 555.12}, {'connected_gene': 'ZNF347', 'score': 13.4}, {'connected_gene': 'ZNF702P', 'score': 10.89}, {'connected_gene': 'ENSG00000267838', 'score': 10.32}, {'connected_gene': 'ZNF665', 'score': 10.29}, {'connected_gene': 'TFPT', 'score': 3.36}, {'connected_gene': 'NDUFA3', 'score': 1.74}, {'connected_gene': 'CACNG7', 'score': 1.44}, {'connected_gene': 'MYADM', 'score': 1.31}, {'connected_gene': 'PRPF31', 'score': 1.21}, {'connected_gene': 'PIR36356', 'score': 0.26}]
chr19 GH19I054114 54114020 54116401 2.11 [{'connected_gene': 'PRPF31', 'score': 570.73}, {'connected_gene': 'PIR52942', 'score': 550.77}, {'connected_gene': 'GC19P054118', 'score': 550.77}, {'connected_gene': 'TFPT', 'score': 550.77}, {'connected_gene': 'GC19P054117', 'score': 550.77}, {'connected_gene': 'LENG8-AS1', 'score': 24.07}, {'connected_gene': 'ZNF765', 'score': 23.61}, {'connected_gene': 'CNOT3', 'score': 21.29}, {'connected_gene': 'LENG8', 'score': 19.83}, {'connected_gene': 'ZNF845', 'score': 19.57}, {'connected_gene': 'ENSG00000269001', 'score': 16.95}, {'connected_gene': 'ZNF525', 'score': 14.84}, {'connected_gene': 'ENSG00000235681', 'score': 14.8}, {'connected_gene': 'TPM3P6', 'score': 14.47}, {'connected_gene': 'ZNF761', 'score': 12.12}, {'connected_gene': 'ZNF665', 'score': 11.03}, {'connected_gene': 'LENG1', 'score': 10.64}, {'connected_gene': 'OSCAR', 'score': 10.64}, {'connected_gene': 'TPM3P9', 'score': 10.48}, {'connected_gene': 'ENSG00000269873', 'score': 9.89}, {'connected_gene': 'LOC105372457', 'score': 9.83}, {'connected_gene': 'ZNF347', 'score': 9.68}, {'connected_gene': 'NDUFA3', 'score': 5.88}, {'connected_gene': 'PIR52357', 'score': 0.77}]