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
ENST00000370487 [[61427804, 61428023], [61428461, 61428583], [61429938, 61430020], [61430326, 61430401], [61430807, 61431945]] [[61427875, 61428023], [61428461, 61428583], [61429938, 61430020], [61430326, 61430401], [61430807, 61430995]]
NM_018270 [[61427756, 61428023], [61428461, 61428583], [61429938, 61430020], [61430326, 61430401], [61430807, 61433090]] [[61427875, 61428023], [61428461, 61428583], [61429938, 61430020], [61430326, 61430401], [61430807, 61430995]]
NR_136405 [[61427756, 61428023], [61428461, 61428583], [61429938, 61430020], [61430204, 61430401], [61430807, 61433090]] None
Promoter
Chrom Start End Description
chr20 61427797 61427863 CAGE_peak_1_at_C20orf20_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I062236 62236314 62240328 2.45 [{'connected_gene': 'OSBPL2', 'score': 562.65}, {'connected_gene': 'TAF4', 'score': 27.26}, {'connected_gene': 'MRGBP', 'score': 20.44}, {'connected_gene': 'DIDO1', 'score': 19.47}, {'connected_gene': 'MTG2', 'score': 10.52}, {'connected_gene': 'ADRM1', 'score': 10.23}, {'connected_gene': 'LAMA5-AS1', 'score': 7.86}, {'connected_gene': 'CABLES2', 'score': 2.46}, {'connected_gene': 'GATA5', 'score': 1.64}, {'connected_gene': 'GC20M062290', 'score': 0.23}]
chr20 GH20I063536 63536075 63539506 2.55 [{'connected_gene': 'PTK6', 'score': 562.74}, {'connected_gene': 'PPDPF', 'score': 24.76}, {'connected_gene': 'MRGBP', 'score': 20.43}, {'connected_gene': 'GMEB2', 'score': 14.43}, {'connected_gene': 'FNDC11', 'score': 12.8}, {'connected_gene': 'DIDO1', 'score': 10.53}, {'connected_gene': 'SRMS', 'score': 1.85}, {'connected_gene': 'SAMD10', 'score': 1.5}, {'connected_gene': 'PRPF6', 'score': 1.43}, {'connected_gene': 'UCKL1', 'score': 1.33}, {'connected_gene': 'YTHDF1', 'score': 1.29}, {'connected_gene': 'ENSG00000275812', 'score': 0.44}]
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 GH20I063657 63657077 63659792 2.13 [{'connected_gene': 'RTEL1', 'score': 595.45}, {'connected_gene': 'STMN3', 'score': 573.88}, {'connected_gene': 'RTEL1-TNFRSF6B', 'score': 550.77}, {'connected_gene': 'DIDO1', 'score': 98.98}, {'connected_gene': 'MIR647', 'score': 61.65}, {'connected_gene': 'GMEB2', 'score': 50.71}, {'connected_gene': 'UCKL1', 'score': 35.8}, {'connected_gene': 'CICP4', 'score': 29.24}, {'connected_gene': 'TCEA2', 'score': 22.09}, {'connected_gene': 'MRGBP', 'score': 21.29}, {'connected_gene': 'FNDC11', 'score': 12.14}, {'connected_gene': 'HAR1A', 'score': 12.11}, {'connected_gene': 'ZNF512B', 'score': 11.56}, {'connected_gene': 'ARFRP1', 'score': 11.26}, {'connected_gene': 'LIME1', 'score': 11.14}, {'connected_gene': 'PRPF6', 'score': 10.72}, {'connected_gene': 'ENSG00000237371', 'score': 10.5}, {'connected_gene': 'PCMTD2', 'score': 10.48}, {'connected_gene': 'GID8', 'score': 10.42}, {'connected_gene': 'GC20P063666', 'score': 0.44}]
chr20 GH20I063651 63651670 63655025 2.25 [{'connected_gene': 'STMN3', 'score': 561.05}, {'connected_gene': 'LOC105372726', 'score': 550.77}, {'connected_gene': 'DIDO1', 'score': 25.17}, {'connected_gene': 'MRGBP', 'score': 20.43}, {'connected_gene': 'GMEB2', 'score': 14.57}, {'connected_gene': 'MIR647', 'score': 14.22}, {'connected_gene': 'UCKL1', 'score': 11.87}, {'connected_gene': 'LIME1', 'score': 11.59}, {'connected_gene': 'FNDC11', 'score': 10.99}, {'connected_gene': 'RTEL1', 'score': 8.2}]
chr20 GH20I062708 62708787 62713063 1.75 [{'connected_gene': 'NTSR1', 'score': 550.77}, {'connected_gene': 'RTEL1', 'score': 19.89}, {'connected_gene': 'ARFGAP1', 'score': 15.56}, {'connected_gene': 'TNFRSF6B', 'score': 13.58}, {'connected_gene': 'YTHDF1', 'score': 12.4}, {'connected_gene': 'ARFRP1', 'score': 12.24}, {'connected_gene': 'ENSG00000223669', 'score': 11.99}, {'connected_gene': 'OGFR-AS1', 'score': 11.51}, {'connected_gene': 'OGFR', 'score': 11.51}, {'connected_gene': 'SLCO4A1-AS1', 'score': 11.5}, {'connected_gene': 'SLCO4A1', 'score': 11.44}, {'connected_gene': 'MRGBP', 'score': 10.96}, {'connected_gene': 'ENSG00000229882', 'score': 10.49}, {'connected_gene': 'ENSG00000232121', 'score': 10.49}, {'connected_gene': 'MIR133A2', 'score': 10.15}, {'connected_gene': 'PTK6', 'score': 5.98}]
chr20 GH20I062785 62785820 62786793 0.51 [{'connected_gene': 'NTSR1', 'score': 11.33}, {'connected_gene': 'LINC00686', 'score': 11.32}, {'connected_gene': 'MRGBP', 'score': 6.08}, {'connected_gene': 'LINC00659', 'score': 0.44}, {'connected_gene': 'LOC105372716', 'score': 0.44}]
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 GH20I062641 62641393 62649370 2.21 [{'connected_gene': 'SLCO4A1', 'score': 550.77}, {'connected_gene': 'MRGBP', 'score': 20.51}, {'connected_gene': 'TAF4', 'score': 15.36}, {'connected_gene': 'GMEB2', 'score': 14.28}, {'connected_gene': 'SLCO4A1-AS1', 'score': 12.52}, {'connected_gene': 'OGFR', 'score': 11.31}, {'connected_gene': 'OGFR-AS1', 'score': 11.3}, {'connected_gene': 'MIR1-1', 'score': 10.99}, {'connected_gene': 'MIR1-1HG-AS1', 'score': 10.99}, {'connected_gene': 'MIR1-1HG', 'score': 10.99}, {'connected_gene': 'FNDC11', 'score': 10.87}, {'connected_gene': 'DIDO1', 'score': 10.56}, {'connected_gene': 'ADRM1', 'score': 10.07}, {'connected_gene': 'TCFL5', 'score': 9.77}, {'connected_gene': 'NKAIN4', 'score': 4.63}, {'connected_gene': 'ENSG00000167046', 'score': 0.77}, {'connected_gene': 'GC20P062822', 'score': 0.77}, {'connected_gene': 'ENSG00000277496', 'score': 0.44}, {'connected_gene': 'LOC101928465', 'score': 0.39}]
chr20 GH20I063625 63625404 63630225 2.33 [{'connected_gene': 'GMEB2', 'score': 615.05}, {'connected_gene': 'MHENCR', 'score': 550.77}, {'connected_gene': 'GC20P063629', 'score': 550.77}, {'connected_gene': 'DIDO1', 'score': 76.31}, {'connected_gene': 'CICP4', 'score': 37.67}, {'connected_gene': 'MRGBP', 'score': 29.84}, {'connected_gene': 'GID8', 'score': 27.16}, {'connected_gene': 'RTEL1', 'score': 24.48}, {'connected_gene': 'MIR647', 'score': 17.78}, {'connected_gene': 'UCKL1', 'score': 15.3}, {'connected_gene': 'TPD52L2', 'score': 11.08}, {'connected_gene': 'FNDC11', 'score': 11.03}, {'connected_gene': 'PRPF6', 'score': 10.72}, {'connected_gene': 'ENSG00000237371', 'score': 10.5}, {'connected_gene': 'STMN3', 'score': 7.45}, {'connected_gene': 'PTK6', 'score': 5.68}, {'connected_gene': 'LIME1', 'score': 5.03}, {'connected_gene': 'GC20M063645', 'score': 0.37}]
chr20 GH20I062140 62140740 62145070 2.56 [{'connected_gene': 'SS18L1', 'score': 563.59}, {'connected_gene': 'PIR42263', 'score': 550.77}, {'connected_gene': 'PSMA7', 'score': 550.77}, {'connected_gene': 'MRGBP', 'score': 20.44}, {'connected_gene': 'TAF4', 'score': 15.52}, {'connected_gene': 'DIDO1', 'score': 10.53}, {'connected_gene': 'ADRM1', 'score': 10.13}, {'connected_gene': 'MTG2', 'score': 8.67}]
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 GH20I062821 62821950 62825960 1.47 [{'connected_gene': 'COL9A3', 'score': 29.69}, {'connected_gene': 'DIDO1', 'score': 19.64}, {'connected_gene': 'GMEB2', 'score': 18.24}, {'connected_gene': 'TAF4', 'score': 14.7}, {'connected_gene': 'MRGBP', 'score': 11.59}, {'connected_gene': 'OGFR', 'score': 11.22}, {'connected_gene': 'GID8', 'score': 10.53}, {'connected_gene': 'RTEL1', 'score': 10.41}, {'connected_gene': 'DPH3P1', 'score': 0.34}]
chr20 GH20I063271 63271967 63274738 2.25 [{'connected_gene': 'NKAIN4', 'score': 552.48}, {'connected_gene': 'ARFGAP1', 'score': 550.77}, {'connected_gene': 'MRGBP', 'score': 20.45}, {'connected_gene': 'GMEB2', 'score': 14.31}, {'connected_gene': 'FNDC11', 'score': 10.9}, {'connected_gene': 'DIDO1', 'score': 10.56}, {'connected_gene': 'ADRM1', 'score': 10.05}, {'connected_gene': 'COL20A1', 'score': 6.03}, {'connected_gene': 'GC20P063264', 'score': 0.44}, {'connected_gene': 'MIR4326', 'score': 0.39}]
chr20 GH20I062088 62088290 62088781 1 [{'connected_gene': 'DIDO1', 'score': 38.62}, {'connected_gene': 'TAF4', 'score': 22.8}, {'connected_gene': 'MRGBP', 'score': 17.53}, {'connected_gene': 'LSM14B', 'score': 11.97}, {'connected_gene': 'MTG2', 'score': 10.91}, {'connected_gene': 'ENSG00000226332', 'score': 10.51}, {'connected_gene': 'LAMA5', 'score': 9.7}, {'connected_gene': 'OSBPL2', 'score': 5.69}, {'connected_gene': 'LOC105372705', 'score': 0.34}]
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 GH20I062922 62922200 62930730 2.55 [{'connected_gene': 'DIDO1', 'score': 579.93}, {'connected_gene': 'GMEB2', 'score': 18.24}, {'connected_gene': 'TAF4', 'score': 14.7}, {'connected_gene': 'GID8', 'score': 14.33}, {'connected_gene': 'MRGBP', 'score': 11.4}, {'connected_gene': 'RTEL1', 'score': 10.4}, {'connected_gene': 'SLC17A9', 'score': 8.9}, {'connected_gene': 'COL9A3', 'score': 4.76}, {'connected_gene': 'ENSG00000273759', 'score': 0.77}, {'connected_gene': 'ARF4P2', 'score': 0.23}]
chr20 GH20I062803 62803701 62807436 2 [{'connected_gene': 'OGFR', 'score': 571.42}, {'connected_gene': 'OGFR-AS1', 'score': 550.77}, {'connected_gene': 'MRGBP', 'score': 6.88}]
chr20 GH20I062715 62715919 62716899 0.66 [{'connected_gene': 'OGFR', 'score': 11.52}, {'connected_gene': 'OGFR-AS1', 'score': 11.52}, {'connected_gene': 'LINC00659', 'score': 11.52}, {'connected_gene': 'SLCO4A1-AS1', 'score': 11.48}, {'connected_gene': 'SLCO4A1', 'score': 11.43}, {'connected_gene': 'MIR133A2', 'score': 11.07}, {'connected_gene': 'MRGBP', 'score': 10.97}, {'connected_gene': 'ENSG00000229882', 'score': 10.48}, {'connected_gene': 'ENSG00000232121', 'score': 10.48}, {'connected_gene': 'NTSR1', 'score': 0.44}, {'connected_gene': 'ENSG00000223669', 'score': 0.37}]
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 GH20I063409 63409421 63410257 0.77 [{'connected_gene': 'LOC105372724', 'score': 550.77}, {'connected_gene': 'MRGBP', 'score': 20.44}, {'connected_gene': 'GMEB2', 'score': 14.34}, {'connected_gene': 'FNDC11', 'score': 10.96}, {'connected_gene': 'DIDO1', 'score': 10.55}, {'connected_gene': 'ENSG00000280936', 'score': 0.39}, {'connected_gene': 'KCNQ2', 'score': 0.21}]
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}]

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