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
ENST00000214869 [[10943113, 10943889], [10945609, 10945793], [10945931, 10946029], [10946684, 10946966]] [[10943670, 10943889], [10945609, 10945793], [10945931, 10946029], [10946684, 10946867]]
ENST00000586835 [[10943362, 10943889], [10945494, 10945680]] [[10943878, 10943889], [10945494, 10945680]]
ENST00000591695 [[10943488, 10943889], [10945931, 10946029], [10946684, 10946994]] [[10943612, 10943889], [10945931, 10946029], [10946684, 10946867]]
ENST00000588259 [[10943650, 10943889], [10945609, 10945793], [10946684, 10946877]] [[10945751, 10945793], [10946684, 10946867]]
ENST00000588289 [[10943660, 10943889], [10945609, 10945793], [10945931, 10946029], [10946278, 10946308]] [[10943670, 10943889], [10945609, 10945639]]
ENST00000591157 [[10943660, 10943889], [10945609, 10945793], [10945966, 10946029], [10946684, 10946925]] [[10945751, 10945793], [10945966, 10946029], [10946684, 10946867]]
ENST00000589638 [[10943726, 10943889], [10945609, 10945739], [10945931, 10946029], [10946684, 10946871]] [[10943726, 10943889], [10945609, 10945739], [10945931, 10946029], [10946684, 10946867]]
NR_104015 [[10942742, 10943889], [10945609, 10945793], [10945931, 10946029], [10946278, 10946416]] None
NM_006858 [[10942742, 10943889], [10945609, 10945793], [10945931, 10946029], [10946684, 10946983]] [[10943670, 10943889], [10945609, 10945793], [10945931, 10946029], [10946684, 10946867]]
Promoter
Chrom Start End Description
chr19 10946872 10946894 CAGE_peak_1_at_TMED1_5end
chr19 10946949 10947006 CAGE_peak_2_at_TMED1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I011140 11140977 11146405 2.12 [{'connected_gene': 'SPC24', 'score': 9.39}, {'connected_gene': 'DOCK6', 'score': 3.68}, {'connected_gene': 'YIPF2', 'score': 2.88}, {'connected_gene': 'TMED1', 'score': 2.47}, {'connected_gene': 'PRKCSH', 'score': 1.94}, {'connected_gene': 'CARM1', 'score': 1.62}, {'connected_gene': 'ECSIT', 'score': 1.56}, {'connected_gene': 'MIR6886', 'score': 0.29}]
chr19 GH19I010834 10834816 10837234 2.12 [{'connected_gene': 'TMED1', 'score': 550.77}, {'connected_gene': 'C19orf38', 'score': 550.77}, {'connected_gene': 'ILF3', 'score': 48.83}, {'connected_gene': 'ZNF627', 'score': 41.8}, {'connected_gene': 'ZNF441', 'score': 40.85}, {'connected_gene': 'ZNF491', 'score': 40.59}, {'connected_gene': 'KRI1', 'score': 27.64}, {'connected_gene': 'ILF3-AS1', 'score': 27.35}, {'connected_gene': 'RAVER1', 'score': 24.28}, {'connected_gene': 'QTRT1', 'score': 19.81}, {'connected_gene': 'DNMT1', 'score': 19.01}, {'connected_gene': 'ELOF1', 'score': 17.48}, {'connected_gene': 'HNRNPA1P10', 'score': 11.38}, {'connected_gene': 'EIF3G', 'score': 10.87}, {'connected_gene': 'PRKCSH', 'score': 10.64}, {'connected_gene': 'PPAN', 'score': 10.51}, {'connected_gene': 'ZNF823', 'score': 9.81}, {'connected_gene': 'ICAM1', 'score': 9.67}, {'connected_gene': 'SMARCA4', 'score': 6.87}, {'connected_gene': 'MIR6793', 'score': 0.44}]
chr19 GH19I010829 10829385 10829409 0.52 [{'connected_gene': 'MIR6793', 'score': 550.77}, {'connected_gene': 'ILF3', 'score': 10.69}, {'connected_gene': 'TMED1', 'score': 0.44}, {'connected_gene': 'DNM2', 'score': 0.14}]
chr19 GH19I010830 10829145 10829294 0.57 [{'connected_gene': 'MIR6793', 'score': 550.77}, {'connected_gene': 'ILF3', 'score': 10.69}, {'connected_gene': 'TMED1', 'score': 0.44}, {'connected_gene': 'DNM2', 'score': 0.14}]