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
ENST00000370981 [[68511644, 68513045], [68516230, 68516481], [68516566, 68516680], [68517107, 68517314]] [[68512290, 68512980]]
ENST00000395201 [[68511646, 68513045], [68516230, 68516460]] [[68512290, 68512980]]
NM_004675 [[68511644, 68513045], [68516230, 68516481], [68516566, 68516680], [68517107, 68517314]] [[68512290, 68512980]]
Promoter
Chrom Start End Description
chr1 68513698 68513702 CAGE_peak_5_at_DIRAS3_5end
chr1 68516268 68516294 CAGE_peak_2_at_DIRAS3_5end
chr1 68516298 68516336 CAGE_peak_1_at_DIRAS3_5end
chr1 68516345 68516360 CAGE_peak_4_at_DIRAS3_5end
chr1 68516361 68516380 CAGE_peak_3_at_DIRAS3_5end
chr1 68516393 68516402 CAGE_peak_6_at_DIRAS3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I068049 68049925 68051847 1.65 [{'connected_gene': 'DIRAS3', 'score': 561.64}, {'connected_gene': 'ARL5AP3', 'score': 550.77}, {'connected_gene': 'GC01M068050', 'score': 0.31}, {'connected_gene': 'GNG12-AS1', 'score': 0.08}]
chr1 GH01I067625 67625643 67635800 1.46 [{'connected_gene': 'MIER1', 'score': 13.81}, {'connected_gene': 'GADD45A', 'score': 11.63}, {'connected_gene': 'SERBP1', 'score': 11.16}, {'connected_gene': 'RNU6-1031P', 'score': 10.09}, {'connected_gene': 'CTBP2P8', 'score': 9.98}, {'connected_gene': 'DIRAS3', 'score': 6.15}, {'connected_gene': 'RN7SL392P', 'score': 0.31}, {'connected_gene': 'LOC105378780', 'score': 0.2}]
chr1 GH01I067824 67824419 67825678 0.66 [{'connected_gene': 'GNG12', 'score': 11.97}, {'connected_gene': 'DIRAS3', 'score': 5.78}, {'connected_gene': 'GNG12-AS1', 'score': 0.44}, {'connected_gene': 'RNU7-80P', 'score': 0.23}]
chr1 GH01I067822 67822478 67824237 0.38 [{'connected_gene': 'GNG12', 'score': 11.96}, {'connected_gene': 'DIRAS3', 'score': 4.73}, {'connected_gene': 'GNG12-AS1', 'score': 0.44}, {'connected_gene': 'RNU7-80P', 'score': 0.23}]
chr1 GH01I067826 67826781 67829179 0.83 [{'connected_gene': 'GNG12', 'score': 11.86}, {'connected_gene': 'DIRAS3', 'score': 4.64}, {'connected_gene': 'GNG12-AS1', 'score': 0.77}, {'connected_gene': 'RNU7-80P', 'score': 0.22}]
chr1 GH01I067887 67887814 67891367 1.32 [{'connected_gene': 'GNG12', 'score': 23.24}, {'connected_gene': 'GNG12-AS1', 'score': 10.57}, {'connected_gene': 'DIRAS3', 'score': 4.68}, {'connected_gene': 'LOC100133029', 'score': 0.1}]
chr1 GH01I067801 67801189 67805831 1.05 [{'connected_gene': 'GNG12', 'score': 26.13}, {'connected_gene': 'GNG12-AS1', 'score': 11.73}, {'connected_gene': 'RNU7-80P', 'score': 11.36}, {'connected_gene': 'RNU6-1031P', 'score': 9.95}, {'connected_gene': 'DIRAS3', 'score': 5.44}]
chr1 GH01I067811 67811531 67819992 1.18 [{'connected_gene': 'GNG12', 'score': 14.55}, {'connected_gene': 'RNU7-80P', 'score': 11.21}, {'connected_gene': 'DIRAS3', 'score': 5.72}, {'connected_gene': 'GNG12-AS1', 'score': 0.37}]
chr1 GH01I067790 67790167 67795393 1.78 [{'connected_gene': 'GNG12', 'score': 575.62}, {'connected_gene': 'RNU7-80P', 'score': 12.65}, {'connected_gene': 'GNG12-AS1', 'score': 11.85}, {'connected_gene': 'DIRAS3', 'score': 4.52}]
chr1 GH01I068022 68022596 68022711 0.39 [{'connected_gene': 'ARL5AP3', 'score': 11.67}, {'connected_gene': 'DIRAS3', 'score': 11.67}, {'connected_gene': 'LOC100133029', 'score': 0.34}, {'connected_gene': 'GNG12', 'score': 0.09}, {'connected_gene': 'GNG12-AS1', 'score': 0.08}]
chr1 GH01I067773 67773171 67775006 0.31 [{'connected_gene': 'GC01M067773', 'score': 550.77}, {'connected_gene': 'RNU7-80P', 'score': 550.77}, {'connected_gene': 'DIRAS3', 'score': 5.79}, {'connected_gene': 'GNG12', 'score': 5.19}, {'connected_gene': 'LOC105378781', 'score': 0.34}, {'connected_gene': 'GNG12-AS1', 'score': 0.22}]