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
NM_148842 [[74441222, 74442183], [74466817, 74466903], [74470007, 74470181], [74471635, 74471723], [74474399, 74474581], [74477019, 74477104], [74479106, 74479158], [74480394, 74480461], [74482476, 74482605], [74486453, 74486583], [74489249, 74489717]] [[74442135, 74442183], [74466817, 74466903], [74470007, 74470181], [74471635, 74471723], [74474399, 74474581], [74477019, 74477104], [74479106, 74479158], [74480394, 74480461], [74482476, 74482605], [74486453, 74486583], [74489249, 74489573]]
NM_030798 [[74456268, 74457217], [74466817, 74466903], [74470007, 74470181], [74471635, 74471723], [74474399, 74474581], [74477019, 74477104], [74479106, 74479158], [74480394, 74480461], [74482476, 74482605], [74486453, 74486583], [74489249, 74489717]] [[74457139, 74457217], [74466817, 74466903], [74470007, 74470181], [74471635, 74471723], [74474399, 74474581], [74477019, 74477104], [74479106, 74479158], [74480394, 74480461], [74482476, 74482605], [74486453, 74486583], [74489249, 74489573]]
NM_001281441 [[74470619, 74470831], [74471635, 74471723], [74474399, 74474581], [74477019, 74477104], [74479106, 74479158], [74480394, 74480461], [74482476, 74482605], [74486453, 74486583], [74489249, 74489717]] [[74470811, 74470831], [74471635, 74471723], [74474399, 74474581], [74477019, 74477104], [74479106, 74479158], [74480394, 74480461], [74482476, 74482605], [74486453, 74486583], [74489249, 74489573]]
Promoter
Chrom Start End Description
chr7 74489594 74489607 CAGE_peak_2_at_WBSCR16_5end
chr7 74489609 74489697 CAGE_peak_1_at_WBSCR16_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I075151 75151001 75151400 0.2 [{'connected_gene': 'RCC1L', 'score': 5.08}, {'connected_gene': 'NCF1C', 'score': 0.34}, {'connected_gene': 'GC07P075127', 'score': 0.34}]
chr7 GH07I075072 75072392 75074434 2.01 [{'connected_gene': 'RCC1L', 'score': 562.22}, {'connected_gene': 'RFC2', 'score': 12.49}, {'connected_gene': 'PMS2P3', 'score': 10.38}, {'connected_gene': 'GTF2IRD2', 'score': 4.15}, {'connected_gene': 'ENSG00000277127', 'score': 0.37}]
chr7 GH07I075075 75075601 75076201 0.43 [{'connected_gene': 'RCC1L', 'score': 550.77}, {'connected_gene': 'STAG3L2', 'score': 11.9}, {'connected_gene': 'GTF2IRD2B', 'score': 0.37}]
chr7 GH07I075077 75077600 75078001 0.62 [{'connected_gene': 'RCC1L', 'score': 0.77}, {'connected_gene': 'GTF2IRD2B', 'score': 0.39}]
chr7 GH07I075094 75094852 75096555 0.2 [{'connected_gene': 'RCC1L', 'score': 5.34}, {'connected_gene': 'GTF2IRD2B', 'score': 0.77}, {'connected_gene': 'GC07P075127', 'score': 0.29}]
chr7 GH07I075092 75092000 75093801 2.11 [{'connected_gene': 'GTF2IRD2B', 'score': 550.77}, {'connected_gene': 'SPDYE5', 'score': 15.4}, {'connected_gene': 'STAG3L1', 'score': 14.83}, {'connected_gene': 'RCC1L', 'score': 5.78}, {'connected_gene': 'GC07P075127', 'score': 0.29}]