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
ENST00000343986 [[60962171, 60962192], [60962376, 60962444], [60962666, 60962730], [60962898, 60962970], [60963364, 60963420], [60963512, 60963575]] [[60962394, 60962444], [60962666, 60962730], [60962898, 60962970], [60963364, 60963420], [60963512, 60963522]]
ENST00000492356 [[60962178, 60962192], [60962376, 60962444], [60962666, 60962730], [60962898, 60962970], [60963364, 60963575]] None
ENST00000370562 [[60962352, 60962444], [60962666, 60963576]] [[60962394, 60962444], [60962666, 60962817]]
ENST00000450116 [[60962373, 60962444], [60962666, 60962730], [60962898, 60962970], [60963364, 60963575]] [[60962394, 60962444], [60962666, 60962730], [60962898, 60962970], [60963364, 60963424]]
ENST00000370592 [[60962380, 60962444], [60962666, 60962730], [60962898, 60963171]] [[60962394, 60962444], [60962666, 60962730], [60962898, 60963057]]
NM_001024 [[60962120, 60962192], [60962376, 60962444], [60962666, 60962730], [60962898, 60962970], [60963364, 60963420], [60963512, 60963576]] [[60962394, 60962444], [60962666, 60962730], [60962898, 60962970], [60963364, 60963420], [60963512, 60963522]]
Promoter
Chrom Start End Description
chr20 60962115 60962126 CAGE_peak_2_at_RPS21_5end
chr20 60962143 60962171 CAGE_peak_1_at_RPS21_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I062231 62231597 62233758 0.88 [{'connected_gene': 'OSBPL2', 'score': 556.1}, {'connected_gene': 'DIDO1', 'score': 19.72}, {'connected_gene': 'RPS21', 'score': 12.3}, {'connected_gene': 'TAF4', 'score': 11.82}, {'connected_gene': 'ENSG00000226332', 'score': 10.05}, {'connected_gene': 'LAMA5-AS1', 'score': 7.24}, {'connected_gene': 'LOC105369209', 'score': 0.77}, {'connected_gene': 'GC20M062290', 'score': 0.22}]
chr20 GH20I063101 63101589 63103279 1.37 [{'connected_gene': 'HAR1B', 'score': 566.71}, {'connected_gene': 'HAR1A', 'score': 562.43}, {'connected_gene': 'GC20P063103', 'score': 550.77}, {'connected_gene': 'ENSG00000274915', 'score': 550.77}, {'connected_gene': 'LAMA5', 'score': 10.4}, {'connected_gene': 'RPS21', 'score': 10.15}, {'connected_gene': 'SOX18', 'score': 9.81}, {'connected_gene': 'GC20P063099', 'score': 0.77}, {'connected_gene': 'LOC105372719', 'score': 0.39}]
chr20 GH20I062880 62879249 62879398 0.38 [{'connected_gene': 'TAF4', 'score': 20.84}, {'connected_gene': 'DIDO1', 'score': 18.81}, {'connected_gene': 'GMEB2', 'score': 14.06}, {'connected_gene': 'RTEL1', 'score': 12.74}, {'connected_gene': 'YTHDF1', 'score': 11.01}, {'connected_gene': 'RPS21', 'score': 10.31}, {'connected_gene': 'ARF4P2', 'score': 0.44}, {'connected_gene': 'ENSG00000273759', 'score': 0.25}]
chr20 GH20I062879 62879509 62879658 0.43 [{'connected_gene': 'TAF4', 'score': 20.84}, {'connected_gene': 'DIDO1', 'score': 18.81}, {'connected_gene': 'GMEB2', 'score': 14.06}, {'connected_gene': 'RTEL1', 'score': 12.74}, {'connected_gene': 'YTHDF1', 'score': 11.01}, {'connected_gene': 'RPS21', 'score': 10.31}, {'connected_gene': 'ARF4P2', 'score': 0.44}, {'connected_gene': 'ENSG00000273759', 'score': 0.25}]
chr20 GH20I061387 61387401 61388046 0.96 [{'connected_gene': 'RPS21', 'score': 13.26}, {'connected_gene': 'LAMA5', 'score': 11.81}, {'connected_gene': 'ENSG00000276786', 'score': 0.37}, {'connected_gene': 'LOC105372703', 'score': 0.25}, {'connected_gene': 'CDH4', 'score': 0.12}]
chr20 GH20I062385 62385353 62389298 2.26 [{'connected_gene': 'RPS21', 'score': 582.48}, {'connected_gene': 'ENSG00000273619', 'score': 550.77}, {'connected_gene': 'DIDO1', 'score': 74.25}, {'connected_gene': 'TAF4', 'score': 23.37}, {'connected_gene': 'CABLES2', 'score': 21.29}, {'connected_gene': 'ENSG00000226332', 'score': 18.84}, {'connected_gene': 'LAMA5', 'score': 12.13}, {'connected_gene': 'LSM14B', 'score': 11.74}, {'connected_gene': 'GID8', 'score': 9.79}, {'connected_gene': 'OSBPL2', 'score': 4.83}, {'connected_gene': 'GC20M062395', 'score': 0.77}, {'connected_gene': 'PIR58957', 'score': 0.77}]
chr20 GH20I062793 62793333 62798318 2.62 [{'connected_gene': 'MRGBP', 'score': 560.75}, {'connected_gene': 'LOC105372716', 'score': 550.77}, {'connected_gene': 'OGFR', 'score': 23.89}, {'connected_gene': 'DIDO1', 'score': 19.55}, {'connected_gene': 'YTHDF1', 'score': 13.31}, {'connected_gene': 'RPS21', 'score': 13.28}, {'connected_gene': 'LSM14B', 'score': 13.18}, {'connected_gene': 'LAMA5', 'score': 11.83}, {'connected_gene': 'RTEL1', 'score': 10.66}, {'connected_gene': 'SS18L1', 'score': 9.72}, {'connected_gene': 'DPH3P1', 'score': 1.95}]
chr20 GH20I062293 62293195 62294862 0.38 [{'connected_gene': 'LAMA5', 'score': 11.92}, {'connected_gene': 'RPS21', 'score': 11.73}, {'connected_gene': 'HRH3', 'score': 11.11}, {'connected_gene': 'OSBPL2', 'score': 9.21}, {'connected_gene': 'LAMA5-AS1', 'score': 7.98}, {'connected_gene': 'GC20M062290', 'score': 0.77}, {'connected_gene': 'ADRM1', 'score': 0.44}]
chr20 GH20I062344 62344845 62344994 0.31 [{'connected_gene': 'LAMA5', 'score': 25.55}, {'connected_gene': 'RPS21', 'score': 12.07}, {'connected_gene': 'ENSG00000226332', 'score': 12.03}, {'connected_gene': 'ADRM1', 'score': 12.01}, {'connected_gene': 'LAMA5-AS1', 'score': 0.44}, {'connected_gene': 'MIR4758', 'score': 0.39}]
chr20 GH20I062352 62352563 62371667 2.81 [{'connected_gene': 'LAMA5', 'score': 580.43}, {'connected_gene': 'LAMA5-AS1', 'score': 24.46}, {'connected_gene': 'ARFGAP1', 'score': 15.55}, {'connected_gene': 'YTHDF1', 'score': 12.39}, {'connected_gene': 'MTG2', 'score': 8.95}, {'connected_gene': 'CABLES2', 'score': 8.74}, {'connected_gene': 'OSBPL2', 'score': 8.56}, {'connected_gene': 'BHLHE23', 'score': 5.94}, {'connected_gene': 'MRGBP', 'score': 3.35}, {'connected_gene': 'ADRM1', 'score': 3.31}, {'connected_gene': 'RPS21', 'score': 2.12}, {'connected_gene': 'RBBP8NL', 'score': 1.96}, {'connected_gene': 'PSMA7', 'score': 1.85}, {'connected_gene': 'SLCO4A1', 'score': 1.82}, {'connected_gene': 'NTSR1', 'score': 1.47}, {'connected_gene': 'SS18L1', 'score': 1.19}, {'connected_gene': 'TAF4', 'score': 1.12}]
chr20 GH20I062181 62181759 62184792 2.3 [{'connected_gene': 'MTG2', 'score': 555.66}, {'connected_gene': 'DIDO1', 'score': 16.47}, {'connected_gene': 'RPS21', 'score': 13.32}, {'connected_gene': 'LAMA5', 'score': 11.87}, {'connected_gene': 'SS18L1', 'score': 5.72}, {'connected_gene': 'CABLES2', 'score': 1.49}, {'connected_gene': 'GATA5', 'score': 1.2}, {'connected_gene': 'PIR52239', 'score': 0.37}]
chr20 GH20I062118 62118491 62124364 2.06 [{'connected_gene': 'LSM14B', 'score': 550.77}, {'connected_gene': 'DIDO1', 'score': 46.87}, {'connected_gene': 'TAF4', 'score': 25.47}, {'connected_gene': 'MRGBP', 'score': 20.43}, {'connected_gene': 'ENSG00000226332', 'score': 18.45}, {'connected_gene': 'RPS21', 'score': 12.26}, {'connected_gene': 'ADRM1', 'score': 10.11}, {'connected_gene': 'SS18L1', 'score': 7.47}, {'connected_gene': 'LOC105372706', 'score': 0.77}, {'connected_gene': 'LOC105372705', 'score': 0.22}]
chr20 GH20I062549 62549109 62568311 1.11 [{'connected_gene': 'MIR1-1HG', 'score': 19.51}, {'connected_gene': 'LAMA5', 'score': 14.73}, {'connected_gene': 'MIR1-1HG-AS1', 'score': 14.37}, {'connected_gene': 'ENSG00000229882', 'score': 11.86}, {'connected_gene': 'ENSG00000232121', 'score': 11.86}, {'connected_gene': 'RPS21', 'score': 10.21}, {'connected_gene': 'ENSG00000223669', 'score': 9.99}, {'connected_gene': 'ENSG00000264490', 'score': 6.8}, {'connected_gene': 'MIR1-1', 'score': 0.77}, {'connected_gene': 'GC20P062818', 'score': 0.77}, {'connected_gene': 'GC20P062819', 'score': 0.77}, {'connected_gene': 'GC20P062820', 'score': 0.44}, {'connected_gene': 'MIR133A2', 'score': 0.44}]
chr20 GH20I063019 63019449 63019598 0.63 [{'connected_gene': 'DIDO1', 'score': 19.87}, {'connected_gene': 'MIR647', 'score': 14.99}, {'connected_gene': 'UCKL1', 'score': 13.68}, {'connected_gene': 'RPS21', 'score': 12.22}, {'connected_gene': 'TAF4', 'score': 11.74}, {'connected_gene': 'GMEB2', 'score': 10.67}, {'connected_gene': 'ENSG00000226332', 'score': 9.88}, {'connected_gene': 'LOC105372718', 'score': 0.44}, {'connected_gene': 'GC20P063014', 'score': 0.44}, {'connected_gene': 'LINC01749', 'score': 0.39}]
chr20 GH20I062380 62380401 62382124 1.51 [{'connected_gene': 'DIDO1', 'score': 28.93}, {'connected_gene': 'TAF4', 'score': 24.68}, {'connected_gene': 'LAMA5', 'score': 13.94}, {'connected_gene': 'RPS21', 'score': 12.63}, {'connected_gene': 'ENSG00000226332', 'score': 10.05}, {'connected_gene': 'MRGBP', 'score': 9.89}, {'connected_gene': 'LOC105372708', 'score': 0.77}, {'connected_gene': 'ENSG00000273619', 'score': 0.44}]
chr20 GH20I062500 62500245 62503000 1.59 [{'connected_gene': 'DIDO1', 'score': 73.03}, {'connected_gene': 'TAF4', 'score': 54.43}, {'connected_gene': 'LAMA5', 'score': 30.28}, {'connected_gene': 'ENSG00000226332', 'score': 28.86}, {'connected_gene': 'MRGBP', 'score': 25.6}, {'connected_gene': 'RPS21', 'score': 23.79}, {'connected_gene': 'HAR1A', 'score': 12.11}, {'connected_gene': 'MTG2', 'score': 10.82}, {'connected_gene': 'YTHDF1', 'score': 10.26}, {'connected_gene': 'DPH3P1', 'score': 7.25}, {'connected_gene': 'OGFR', 'score': 4.15}, {'connected_gene': 'GC20M062490', 'score': 0.77}, {'connected_gene': 'PIR36870', 'score': 0.77}]
chr20 GH20I062935 62935428 62940078 2.3 [{'connected_gene': 'DIDO1', 'score': 603.2}, {'connected_gene': 'GID8', 'score': 556.29}, {'connected_gene': 'GMEB2', 'score': 28.65}, {'connected_gene': 'RPS21', 'score': 13.27}, {'connected_gene': 'SLC17A9', 'score': 12.32}, {'connected_gene': 'FNDC11', 'score': 12.03}, {'connected_gene': 'MRGBP', 'score': 11.83}, {'connected_gene': 'LAMA5', 'score': 11.82}, {'connected_gene': 'ENSG00000226332', 'score': 10.21}, {'connected_gene': 'RTEL1', 'score': 9.91}, {'connected_gene': 'ENSG00000273759', 'score': 0.44}]
chr20 GH20I062300 62300941 62306639 2.6 [{'connected_gene': 'ADRM1', 'score': 565.37}, {'connected_gene': 'DIDO1', 'score': 69.78}, {'connected_gene': 'TAF4', 'score': 59.93}, {'connected_gene': 'MRGBP', 'score': 29.86}, {'connected_gene': 'ENSG00000226332', 'score': 22.28}, {'connected_gene': 'RPS21', 'score': 12.37}, {'connected_gene': 'LAMA5', 'score': 10.96}, {'connected_gene': 'GID8', 'score': 10.43}, {'connected_gene': 'LAMA5-AS1', 'score': 10.4}, {'connected_gene': 'CABLES2', 'score': 7.15}, {'connected_gene': 'OSBPL2', 'score': 6.0}, {'connected_gene': 'GATA5', 'score': 1.53}, {'connected_gene': 'LOC105372707', 'score': 0.77}]
chr20 GH20I062425 62425828 62432193 1.8 [{'connected_gene': 'LOC105372710', 'score': 566.47}, {'connected_gene': 'RBBP8NL', 'score': 555.87}, {'connected_gene': 'CABLES2', 'score': 22.39}, {'connected_gene': 'DIDO1', 'score': 19.73}, {'connected_gene': 'ARFGAP1', 'score': 15.55}, {'connected_gene': 'RPS21', 'score': 12.46}, {'connected_gene': 'YTHDF1', 'score': 12.39}, {'connected_gene': 'TAF4', 'score': 11.77}, {'connected_gene': 'LAMA5', 'score': 11.23}, {'connected_gene': 'MIR1-1', 'score': 11.0}, {'connected_gene': 'MIR1-1HG-AS1', 'score': 11.0}, {'connected_gene': 'MIR1-1HG', 'score': 11.0}, {'connected_gene': 'ENSG00000226332', 'score': 9.98}, {'connected_gene': 'GATA5', 'score': 0.25}]
chr20 GH20I062775 62775343 62777763 1.42 [{'connected_gene': 'LINC00659', 'score': 550.77}, {'connected_gene': 'DIDO1', 'score': 67.72}, {'connected_gene': 'RPS21', 'score': 23.71}, {'connected_gene': 'GMEB2', 'score': 22.29}, {'connected_gene': 'TAF4', 'score': 20.58}, {'connected_gene': 'MRGBP', 'score': 12.09}, {'connected_gene': 'FNDC11', 'score': 12.03}, {'connected_gene': 'LAMA5', 'score': 11.83}, {'connected_gene': 'ENSG00000226332', 'score': 9.9}, {'connected_gene': 'GID8', 'score': 9.84}, {'connected_gene': 'GC20P062821', 'score': 0.77}]
chr20 GH20I062291 62291869 62292945 0.38 [{'connected_gene': 'GC20M062290', 'score': 550.77}, {'connected_gene': 'LAMA5', 'score': 11.73}, {'connected_gene': 'RPS21', 'score': 11.54}, {'connected_gene': 'HRH3', 'score': 11.23}, {'connected_gene': 'LAMA5-AS1', 'score': 10.0}, {'connected_gene': 'ENSG00000226332', 'score': 7.45}, {'connected_gene': 'ADRM1', 'score': 0.44}, {'connected_gene': 'OSBPL2', 'score': 0.21}]
chr20 GH20I062971 62971901 62975697 1.22 [{'connected_gene': 'GC20P062974', 'score': 550.77}, {'connected_gene': 'DIDO1', 'score': 19.97}, {'connected_gene': 'MIR647', 'score': 14.99}, {'connected_gene': 'UCKL1', 'score': 13.68}, {'connected_gene': 'RPS21', 'score': 12.22}, {'connected_gene': 'TAF4', 'score': 11.74}, {'connected_gene': 'GMEB2', 'score': 10.67}, {'connected_gene': 'ENSG00000226332', 'score': 9.88}, {'connected_gene': 'SLC17A9', 'score': 5.61}]

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