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
ENST00000316610 [[89754019, 89757369], [89769655, 89770585]] [[89756983, 89757369], [89769655, 89770109]]
ENST00000514906 [[89768259, 89770195]] [[89769509, 89770109]]
NM_203406 [[89754019, 89757369], [89769655, 89770585]] [[89756983, 89757369], [89769655, 89770109]]
Promoter
Chrom Start End Description
chr5 89770171 89770258 CAGE_peak_2_at_MBLAC2_5end
chr5 89770430 89770441 CAGE_peak_8_at_MBLAC2_5end
chr5 89770470 89770485 CAGE_peak_4_at_MBLAC2_5end
chr5 89770522 89770539 CAGE_peak_6_at_MBLAC2_5end
chr5 89770542 89770574 CAGE_peak_1_at_MBLAC2_5end
chr5 89770582 89770603 CAGE_peak_3_at_MBLAC2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I090439 90439552 90440600 0.97 [{'connected_gene': 'ADGRV1', 'score': 11.76}, {'connected_gene': 'LYSMD3', 'score': 11.76}, {'connected_gene': 'POLR3G', 'score': 11.55}, {'connected_gene': 'MBLAC2', 'score': 11.24}, {'connected_gene': 'LOC731157', 'score': 10.79}, {'connected_gene': 'CETN3', 'score': 10.79}]
chr5 GH05I090020 90020567 90022350 1.09 [{'connected_gene': 'MBLAC2', 'score': 11.18}, {'connected_gene': 'ENSG00000260871', 'score': 10.86}, {'connected_gene': 'LYSMD3', 'score': 10.52}, {'connected_gene': 'CETN3', 'score': 9.68}, {'connected_gene': 'MIR3660', 'score': 0.77}, {'connected_gene': 'GC05M090101', 'score': 0.18}]
chr5 GH05I090482 90482658 90482717 0.61 [{'connected_gene': 'POLR3G', 'score': 550.39}, {'connected_gene': 'ADGRV1', 'score': 11.02}, {'connected_gene': 'LYSMD3', 'score': 11.02}, {'connected_gene': 'MBLAC2', 'score': 0.44}]
chr5 GH05I090472 90472740 90478253 2.3 [{'connected_gene': 'POLR3G', 'score': 557.32}, {'connected_gene': 'MBLAC2', 'score': 550.77}, {'connected_gene': 'ADGRV1', 'score': 0.23}]
chr5 GH05I091310 91310046 91315799 1.45 [{'connected_gene': 'ENSG00000271762', 'score': 550.77}, {'connected_gene': 'LUCAT1', 'score': 550.77}, {'connected_gene': 'GC05P091311', 'score': 550.77}, {'connected_gene': 'RPS18P7', 'score': 13.08}, {'connected_gene': 'ENSG00000241059', 'score': 13.08}, {'connected_gene': 'MBLAC2', 'score': 12.51}, {'connected_gene': 'ARRDC3', 'score': 12.23}, {'connected_gene': 'ENSG00000277001', 'score': 0.77}]