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
ENST00000509657 [[164415593, 164415711], [164428184, 164428297], [164433973, 164434011], [164435225, 164435310], [164436464, 164436613], [164438585, 164438628], [164440485, 164440872]] [[164415593, 164415711], [164428184, 164428297], [164433973, 164434011], [164435225, 164435310], [164436464, 164436613], [164438585, 164438628], [164440485, 164440666]]
ENST00000358572 [[164415612, 164415956], [164428184, 164428297], [164433973, 164434011], [164435225, 164435310], [164436464, 164436613], [164438585, 164438628], [164440485, 164441691]] [[164415953, 164415956], [164428184, 164428297], [164433973, 164434011], [164435225, 164435310], [164436464, 164436613], [164438585, 164438628], [164440485, 164440666]]
ENST00000513272 [[164415818, 164415956], [164428184, 164428297], [164433973, 164434011], [164435225, 164435310], [164438585, 164438628], [164440485, 164440871]] [[164415953, 164415956], [164428184, 164428297], [164433973, 164434011], [164435225, 164435310], [164438585, 164438613]]
ENST00000511562 [[164415819, 164415988], [164428184, 164428297], [164433973, 164434011], [164435225, 164435310], [164436464, 164436613]] None
ENST00000508652 [[164415819, 164415988], [164428184, 164428297], [164433973, 164434011], [164435225, 164435310], [164436464, 164437254]] None
ENST00000513134 [[164415839, 164415956], [164428184, 164428297], [164433973, 164434011], [164435225, 164435310], [164441133, 164441527]] [[164415953, 164415956], [164428184, 164428297], [164433973, 164434011], [164435225, 164435310], [164441133, 164441200]]
ENST00000508268 [[164415859, 164415956], [164428184, 164428297], [164433973, 164434011], [164435225, 164435310], [164436464, 164436613], [164438585, 164438711]] [[164415953, 164415956], [164428184, 164428297], [164433973, 164434011], [164435225, 164435310], [164436464, 164436613], [164438585, 164438632]]
ENST00000506214 [[164433575, 164434011], [164435225, 164435310], [164436464, 164436613], [164438585, 164438628], [164440485, 164440615]] None
ENST00000503148 [[164438223, 164438628], [164440485, 164440710]] None
NM_018352 [[164415672, 164415956], [164428184, 164428297], [164433973, 164434011], [164435225, 164435310], [164436464, 164436613], [164438585, 164438628], [164440485, 164441691]] [[164415953, 164415956], [164428184, 164428297], [164433973, 164434011], [164435225, 164435310], [164436464, 164436613], [164438585, 164438628], [164440485, 164440666]]
Promoter
Chrom Start End Description
chr4 164415635 164415669 CAGE_peak_4_at_C4orf43_5end
chr4 164415670 164415690 CAGE_peak_2_at_C4orf43_5end
chr4 164415785 164415848 CAGE_peak_1_at_C4orf43_5end
chr4 164415855 164415866 CAGE_peak_5_at_C4orf43_5end
chr4 164415871 164415899 CAGE_peak_3_at_C4orf43_5end
chr4 164415913 164415917 CAGE_peak_11_at_C4orf43_5end
chr4 164415932 164415934 CAGE_peak_14_at_C4orf43_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I163481 163481769 163483079 0.4 [{'connected_gene': 'TKTL2', 'score': 0.44}, {'connected_gene': 'TMA16', 'score': 0.39}]
chr4 GH04I163543 163543051 163543198 0.26 [{'connected_gene': 'TMA16', 'score': 12.32}, {'connected_gene': 'TKTL2', 'score': 10.7}, {'connected_gene': 'MARCH1', 'score': 2.36}, {'connected_gene': 'NPY5R', 'score': 2.31}, {'connected_gene': 'NPY1R', 'score': 1.94}, {'connected_gene': 'ENSG00000273449', 'score': 0.39}, {'connected_gene': 'PIR37872', 'score': 0.06}]
chr4 GH04I163484 163484949 163485098 0.65 [{'connected_gene': 'TMA16', 'score': 0.44}, {'connected_gene': 'TKTL2', 'score': 0.39}]
chr4 GH04I163866 163866638 163867678 0.57 [{'connected_gene': 'TMA16', 'score': 12.56}, {'connected_gene': 'GC04M163825', 'score': 0.28}, {'connected_gene': 'YWHAQP4', 'score': 0.2}, {'connected_gene': 'MARCH1', 'score': 0.03}, {'connected_gene': 'GC04M163839', 'score': 0.03}]
chr4 GH04I163493 163493060 163496419 2.35 [{'connected_gene': 'TMA16', 'score': 553.1}, {'connected_gene': 'MARCH1', 'score': 47.28}, {'connected_gene': 'ENSG00000273449', 'score': 8.92}, {'connected_gene': 'TKTL2', 'score': 1.55}]
chr4 GH04I163496 163496801 163497200 0.31 [{'connected_gene': 'TMA16', 'score': 0.77}, {'connected_gene': 'ENSG00000273449', 'score': 0.29}]
chr4 GH04I163550 163550001 163550800 1.39 [{'connected_gene': 'MARCH1', 'score': 19.86}, {'connected_gene': 'TMA16', 'score': 12.37}, {'connected_gene': 'TKTL2', 'score': 10.59}, {'connected_gene': 'ENSG00000273449', 'score': 0.34}, {'connected_gene': 'PIR37872', 'score': 0.07}]
chr4 GH04I163540 163540565 163542395 0.43 [{'connected_gene': 'MARCH1', 'score': 53.23}, {'connected_gene': 'TMA16', 'score': 12.32}, {'connected_gene': 'TKTL2', 'score': 10.7}, {'connected_gene': 'ENSG00000273449', 'score': 0.39}, {'connected_gene': 'PIR37872', 'score': 0.06}]
chr4 GH04I163535 163535774 163536756 0.51 [{'connected_gene': 'MARCH1', 'score': 47.68}, {'connected_gene': 'TMA16', 'score': 12.28}, {'connected_gene': 'TKTL2', 'score': 10.68}, {'connected_gene': 'ENSG00000273449', 'score': 0.44}, {'connected_gene': 'PIR37872', 'score': 0.06}]
chr4 GH04I163544 163544201 163545639 1.08 [{'connected_gene': 'MARCH1', 'score': 48.75}, {'connected_gene': 'TMA16', 'score': 12.31}, {'connected_gene': 'TKTL2', 'score': 10.57}, {'connected_gene': 'ENSG00000273449', 'score': 0.37}, {'connected_gene': 'PIR37872', 'score': 0.06}]
chr4 GH04I163622 163622201 163623200 0.65 [{'connected_gene': 'MARCH1', 'score': 7.75}, {'connected_gene': 'TMA16', 'score': 4.76}, {'connected_gene': 'ENSG00000273449', 'score': 0.16}, {'connected_gene': 'PIR37872', 'score': 0.08}]
chr4 GH04I163528 163528033 163529942 0.2 [{'connected_gene': 'ENSG00000273449', 'score': 550.77}, {'connected_gene': 'MARCH1', 'score': 48.78}, {'connected_gene': 'TKTL2', 'score': 10.87}, {'connected_gene': 'TMA16', 'score': 5.6}]