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
ENST00000253023 [[59067078, 59067596], [59067682, 59067746], [59068053, 59068157], [59068258, 59068297], [59068429, 59068524], [59069639, 59070327]] [[59067455, 59067596], [59067682, 59067746], [59068053, 59068157], [59068258, 59068297], [59068429, 59068524], [59069639, 59069748]]
ENST00000595957 [[59067507, 59067596], [59067682, 59067746], [59068053, 59068157], [59068258, 59068297], [59068429, 59068524], [59069639, 59069721], [59070060, 59070321]] [[59067507, 59067596], [59067682, 59067746], [59068053, 59068109]]
ENST00000596985 [[59067567, 59067746], [59068053, 59068157], [59068258, 59068297], [59068429, 59068456]] [[59067571, 59067746], [59068053, 59068157], [59068258, 59068297], [59068429, 59068456]]
ENST00000599829 [[59067948, 59068157], [59068258, 59068496]] None
ENST00000593801 [[59067960, 59068157], [59068258, 59068297], [59068429, 59068516]] None
NM_003969 [[59067078, 59067596], [59067682, 59067746], [59068053, 59068157], [59068258, 59068297], [59068429, 59068524], [59069639, 59070343]] [[59067455, 59067596], [59067682, 59067746], [59068053, 59068157], [59068258, 59068297], [59068429, 59068524], [59069639, 59069748]]
Promoter
Chrom Start End Description
chr19 59069872 59069904 CAGE_peak_3_at_UBE2M_5end
chr19 59069928 59069993 CAGE_peak_2_at_UBE2M_5end
chr19 59070133 59070155 CAGE_peak_6_at_UBE2M_5end
chr19 59070206 59070223 CAGE_peak_4_at_UBE2M_5end
chr19 59070239 59070359 CAGE_peak_1_at_UBE2M_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I058553 58553537 58560688 2.34 [{'connected_gene': 'UBE2M', 'score': 550.77}, {'connected_gene': 'CHMP2A', 'score': 550.77}, {'connected_gene': 'TRIM28', 'score': 80.14}, {'connected_gene': 'ZNF417', 'score': 58.65}, {'connected_gene': 'ZNF134', 'score': 57.03}, {'connected_gene': 'ZNF606', 'score': 54.49}, {'connected_gene': 'ZNF274', 'score': 46.08}, {'connected_gene': 'MZF1', 'score': 45.22}, {'connected_gene': 'LOC100128398', 'score': 42.41}, {'connected_gene': 'ERVK3-1', 'score': 40.47}, {'connected_gene': 'ZNF550', 'score': 39.34}, {'connected_gene': 'ZNF586', 'score': 36.91}, {'connected_gene': 'ZNF329', 'score': 34.35}, {'connected_gene': 'ZNF324B', 'score': 33.77}, {'connected_gene': 'ZNF418', 'score': 33.61}, {'connected_gene': 'ZNF446', 'score': 33.42}, {'connected_gene': 'MZF1-AS1', 'score': 29.54}, {'connected_gene': 'ZNF776', 'score': 28.69}, {'connected_gene': 'ZNF135', 'score': 24.97}, {'connected_gene': 'ZSCAN22', 'score': 23.03}, {'connected_gene': 'ZSCAN18', 'score': 22.47}, {'connected_gene': 'ZNF544', 'score': 21.64}, {'connected_gene': 'ZNF587B', 'score': 21.55}, {'connected_gene': 'ZNF587', 'score': 21.47}, {'connected_gene': 'LOC105372482', 'score': 20.64}, {'connected_gene': 'RPS5', 'score': 20.17}, {'connected_gene': 'LOC100419848', 'score': 20.11}, {'connected_gene': 'ENSG00000268392', 'score': 18.22}, {'connected_gene': 'ZNF584', 'score': 17.57}, {'connected_gene': 'CENPBD1P1', 'score': 16.5}, {'connected_gene': 'ZNF551', 'score': 16.1}, {'connected_gene': 'ENSG00000268912', 'score': 14.79}, {'connected_gene': 'ZIK1', 'score': 14.33}, {'connected_gene': 'ZNF132', 'score': 13.22}, {'connected_gene': 'ENSG00000268201', 'score': 12.56}, {'connected_gene': 'ZNF530', 'score': 12.28}, {'connected_gene': 'ZNF416', 'score': 12.04}, {'connected_gene': 'ZNF256', 'score': 11.74}, {'connected_gene': 'LOC105372483', 'score': 10.96}, {'connected_gene': 'ENSG00000232098', 'score': 10.78}, {'connected_gene': 'ZNF324', 'score': 10.76}, {'connected_gene': 'ZSCAN1', 'score': 10.31}, {'connected_gene': 'ENSG00000269600', 'score': 4.38}]
chr19 GH19I058517 58517247 58522169 2.83 [{'connected_gene': 'ZBTB45', 'score': 560.04}, {'connected_gene': 'PIR40518', 'score': 550.77}, {'connected_gene': 'ZNF324B', 'score': 58.62}, {'connected_gene': 'TRIM28', 'score': 47.96}, {'connected_gene': 'ZNF446', 'score': 41.93}, {'connected_gene': 'ZNF134', 'score': 38.29}, {'connected_gene': 'ZNF417', 'score': 37.5}, {'connected_gene': 'ZSCAN22', 'score': 34.61}, {'connected_gene': 'ZNF549', 'score': 32.67}, {'connected_gene': 'ZNF274', 'score': 31.01}, {'connected_gene': 'CENPBD1P1', 'score': 29.16}, {'connected_gene': 'LOC105372483', 'score': 26.97}, {'connected_gene': 'ZNF584', 'score': 26.55}, {'connected_gene': 'ENSG00000268543', 'score': 24.39}, {'connected_gene': 'ZNF135', 'score': 24.3}, {'connected_gene': 'ZNF550', 'score': 23.64}, {'connected_gene': 'ENSG00000232098', 'score': 23.61}, {'connected_gene': 'ZNF132', 'score': 22.8}, {'connected_gene': 'ZNF256', 'score': 22.46}, {'connected_gene': 'MZF1', 'score': 22.24}, {'connected_gene': 'ZSCAN18', 'score': 21.59}, {'connected_gene': 'ZNF606', 'score': 20.9}, {'connected_gene': 'ZNF587', 'score': 20.82}, {'connected_gene': 'ZNF530', 'score': 13.31}, {'connected_gene': 'LOC100128398', 'score': 13.16}, {'connected_gene': 'UBE2M', 'score': 13.11}, {'connected_gene': 'CHMP2A', 'score': 13.11}, {'connected_gene': 'ENSG00000268912', 'score': 12.77}, {'connected_gene': 'LOC105372482', 'score': 12.21}, {'connected_gene': 'ZNF329', 'score': 11.79}, {'connected_gene': 'ZNF587B', 'score': 11.79}, {'connected_gene': 'RNU6-1337P', 'score': 11.6}, {'connected_gene': 'ZNF418', 'score': 11.3}, {'connected_gene': 'ZNF776', 'score': 11.05}, {'connected_gene': 'ZNF324', 'score': 10.97}, {'connected_gene': 'ZNF551', 'score': 10.84}, {'connected_gene': 'LOC100419848', 'score': 10.47}, {'connected_gene': 'ZSCAN4', 'score': 10.33}, {'connected_gene': 'ZNF544', 'score': 9.98}, {'connected_gene': 'ZNF586', 'score': 9.87}, {'connected_gene': 'LOC105372486', 'score': 0.44}]
chr19 GH19I058537 58537187 58539451 1.49 [{'connected_gene': 'ZBTB45', 'score': 550.77}, {'connected_gene': 'ZNF584', 'score': 17.46}, {'connected_gene': 'ZSCAN18', 'score': 7.24}, {'connected_gene': 'ENSG00000232098', 'score': 6.04}, {'connected_gene': 'ZNF8', 'score': 4.12}, {'connected_gene': 'ZNF544', 'score': 3.79}, {'connected_gene': 'TRIM28', 'score': 3.58}, {'connected_gene': 'ZNF329', 'score': 2.41}, {'connected_gene': 'ZNF497', 'score': 1.95}, {'connected_gene': 'ZNF324', 'score': 1.8}, {'connected_gene': 'ZNF135', 'score': 1.66}, {'connected_gene': 'UBE2M', 'score': 1.57}, {'connected_gene': 'MZF1', 'score': 1.52}, {'connected_gene': 'ZNF324B', 'score': 1.45}, {'connected_gene': 'ZNF132', 'score': 1.22}, {'connected_gene': 'PIR40518', 'score': 0.37}]
chr19 GH19I058522 58522634 58523207 0.31 [{'connected_gene': 'TRIM28', 'score': 13.18}, {'connected_gene': 'CHMP2A', 'score': 13.13}, {'connected_gene': 'UBE2M', 'score': 13.11}, {'connected_gene': 'MZF1', 'score': 11.92}, {'connected_gene': 'CENPBD1P1', 'score': 11.92}, {'connected_gene': 'RNU6-1337P', 'score': 11.6}, {'connected_gene': 'ZNF446', 'score': 11.57}, {'connected_gene': 'ZNF324', 'score': 10.96}, {'connected_gene': 'ZNF324B', 'score': 10.74}, {'connected_gene': 'PIR40518', 'score': 0.77}, {'connected_gene': 'ZBTB45', 'score': 0.37}]
chr19 GH19I058580 58580516 58582012 1.14 [{'connected_gene': 'PIR59692', 'score': 550.77}, {'connected_gene': 'ENSG00000268784', 'score': 550.77}, {'connected_gene': 'TRIM28', 'score': 26.13}, {'connected_gene': 'ZNF274', 'score': 16.59}, {'connected_gene': 'ZNF417', 'score': 15.9}, {'connected_gene': 'CENPBD1P1', 'score': 13.05}, {'connected_gene': 'ZNF587', 'score': 12.55}, {'connected_gene': 'ZNF586', 'score': 12.32}, {'connected_gene': 'ZBTB45', 'score': 12.3}, {'connected_gene': 'UBE2M', 'score': 12.28}, {'connected_gene': 'CHMP2A', 'score': 12.25}, {'connected_gene': 'RNU6-1337P', 'score': 11.14}, {'connected_gene': 'ZNF446', 'score': 11.13}, {'connected_gene': 'RPS5', 'score': 11.0}, {'connected_gene': 'ZSCAN22', 'score': 10.88}, {'connected_gene': 'ZNF134', 'score': 10.77}, {'connected_gene': 'ZNF132', 'score': 10.52}, {'connected_gene': 'ZNF587B', 'score': 10.17}, {'connected_gene': 'ENSG00000232098', 'score': 5.73}, {'connected_gene': 'MZF1', 'score': 0.44}]