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
ENST00000290291 [[61436186, 61436382], [61438888, 61438957], [61439598, 61439677], [61440936, 61441015], [61441850, 61441917], [61442813, 61442962], [61443581, 61445352]] [[61436211, 61436382], [61438888, 61438957], [61439598, 61439677], [61440936, 61441015], [61441850, 61441917], [61442813, 61442962], [61443581, 61445001]]
ENST00000370461 [[61437237, 61439677], [61440936, 61441015], [61441850, 61441917], [61442813, 61442962], [61443581, 61445352]] [[61439514, 61439677], [61440936, 61441015], [61441850, 61441917], [61442813, 61442962], [61443581, 61445001]]
ENST00000450048 [[61438624, 61438957], [61439598, 61439677], [61440936, 61441015], [61441850, 61441912]] [[61438894, 61438957], [61439598, 61439677], [61440936, 61441015], [61441850, 61441912]]
NM_007346 [[61436151, 61436382], [61438888, 61438957], [61439598, 61439677], [61440936, 61441015], [61441850, 61441917], [61442813, 61442962], [61443581, 61445352]] [[61436211, 61436382], [61438888, 61438957], [61439598, 61439677], [61440936, 61441015], [61441850, 61441917], [61442813, 61442962], [61443581, 61445001]]
Promoter
Chrom Start End Description
chr20 61436146 61436197 CAGE_peak_1_at_OGFR_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I063264 63264479 63269889 1.17 [{'connected_gene': 'BIRC7', 'score': 29.52}, {'connected_gene': 'MIR647', 'score': 17.87}, {'connected_gene': 'COL20A1', 'score': 16.72}, {'connected_gene': 'DIDO1', 'score': 15.98}, {'connected_gene': 'UCKL1', 'score': 14.65}, {'connected_gene': 'LAMA5', 'score': 14.28}, {'connected_gene': 'NKAIN4', 'score': 13.92}, {'connected_gene': 'ENSG00000237371', 'score': 13.84}, {'connected_gene': 'ARFGAP1', 'score': 11.84}, {'connected_gene': 'RTEL1', 'score': 11.83}, {'connected_gene': 'ENSG00000226332', 'score': 10.98}, {'connected_gene': 'RNU6-994P', 'score': 10.89}, {'connected_gene': 'YTHDF1', 'score': 10.14}, {'connected_gene': 'OGFR', 'score': 4.69}, {'connected_gene': 'ENSG00000231977', 'score': 4.63}, {'connected_gene': 'GC20P063264', '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 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 GH20I062685 62685801 62686800 1.35 [{'connected_gene': 'NTSR1', 'score': 20.01}, {'connected_gene': 'SLCO4A1', 'score': 1.74}, {'connected_gene': 'OGFR', 'score': 1.64}, {'connected_gene': 'DPH3P1', 'score': 1.58}, {'connected_gene': 'LINC00686', 'score': 0.39}, {'connected_gene': 'SLCO4A1-AS1', 'score': 0.37}]
chr20 GH20I062674 62674989 62676144 0.75 [{'connected_gene': 'NTSR1', 'score': 8.62}, {'connected_gene': 'OGFR', 'score': 3.78}, {'connected_gene': 'SLCO4A1-AS1', 'score': 0.44}, {'connected_gene': 'LINC00686', 'score': 0.34}, {'connected_gene': 'SLCO4A1', 'score': 0.29}]
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 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 GH20I062814 62814697 62820636 1.86 [{'connected_gene': 'COL9A3', 'score': 581.31}, {'connected_gene': 'TCFL5', 'score': 11.35}, {'connected_gene': 'ENSG00000223669', 'score': 10.67}, {'connected_gene': 'OGFR', 'score': 10.56}, {'connected_gene': 'DPH3P1', 'score': 0.31}]
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 GH20I062738 62738241 62743126 1.63 [{'connected_gene': 'OGFR', 'score': 18.09}, {'connected_gene': 'NTSR1', 'score': 17.24}, {'connected_gene': 'LINC00659', 'score': 12.1}, {'connected_gene': 'LINC00686', 'score': 12.06}, {'connected_gene': 'OGFR-AS1', 'score': 11.6}, {'connected_gene': 'MIR1-1', 'score': 10.54}, {'connected_gene': 'MIR1-1HG-AS1', 'score': 10.54}, {'connected_gene': 'MIR1-1HG', 'score': 10.54}, {'connected_gene': 'ENSG00000229882', 'score': 10.41}, {'connected_gene': 'ENSG00000232121', 'score': 10.41}, {'connected_gene': 'ENSG00000223669', 'score': 6.1}, {'connected_gene': 'DPH3P1', 'score': 3.16}, {'connected_gene': 'DIDO1', 'score': 2.61}, {'connected_gene': 'GC20M062750', 'score': 0.39}]
chr20 GH20I062791 62791201 62793046 1.21 [{'connected_gene': 'OGFR', 'score': 20.68}, {'connected_gene': 'LOC105372716', 'score': 0.77}, {'connected_gene': 'LINC00659', 'score': 0.37}]
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 GH20I062808 62808369 62808538 0.76 [{'connected_gene': 'OGFR', 'score': 8.01}, {'connected_gene': 'OGFR-AS1', 'score': 0.77}, {'connected_gene': 'COL9A3', 'score': 0.44}]
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 GH20I062989 62989201 62989533 0.67 [{'connected_gene': 'OGFR', 'score': 4.8}, {'connected_gene': 'DPH3P1', 'score': 2.9}, {'connected_gene': 'GC20P062974', 'score': 0.39}, {'connected_gene': 'BHLHE23', 'score': 0.37}]
chr20 GH20I062727 62727201 62729200 0.89 [{'connected_gene': 'LINC00659', 'score': 11.55}, {'connected_gene': 'SLCO4A1', 'score': 11.2}, {'connected_gene': 'ENSG00000229882', 'score': 10.69}, {'connected_gene': 'ENSG00000232121', 'score': 10.69}, {'connected_gene': 'OGFR-AS1', 'score': 10.46}, {'connected_gene': 'OGFR', 'score': 10.46}, {'connected_gene': 'ENSG00000223669', 'score': 0.44}, {'connected_gene': 'NTSR1', 'score': 0.37}]
chr20 GH20I062732 62732170 62732278 0.4 [{'connected_gene': 'LINC00659', 'score': 11.57}, {'connected_gene': 'SLCO4A1-AS1', 'score': 11.23}, {'connected_gene': 'SLCO4A1', 'score': 11.2}, {'connected_gene': 'ENSG00000229882', 'score': 10.68}, {'connected_gene': 'ENSG00000232121', 'score': 10.68}, {'connected_gene': 'OGFR-AS1', 'score': 10.56}, {'connected_gene': 'OGFR', 'score': 10.56}, {'connected_gene': 'ENSG00000223669', 'score': 0.77}, {'connected_gene': 'NTSR1', 'score': 0.34}]
chr20 GH20I062787 62787956 62788147 0.62 [{'connected_gene': 'DPH3P1', 'score': 6.34}, {'connected_gene': 'OGFR', 'score': 6.11}, {'connected_gene': 'DIDO1', 'score': 1.44}, {'connected_gene': 'LOC105372716', 'score': 0.44}, {'connected_gene': 'LINC00659', 'score': 0.39}]
chr20 GH20I062588 62588158 62588379 0.86 [{'connected_gene': 'DPH3P1', 'score': 5.71}, {'connected_gene': 'OGFR', 'score': 2.37}, {'connected_gene': 'ENSG00000264490', 'score': 0.39}, {'connected_gene': 'WI2-87327B8.2', 'score': 0.37}]
chr20 GH20I062649 62649729 62654454 2.1 [{'connected_gene': 'ENSG00000277496', 'score': 550.77}, {'connected_gene': 'ENSG00000276317', 'score': 550.77}, {'connected_gene': 'OGFR', 'score': 21.02}, {'connected_gene': 'YTHDF1', 'score': 11.39}, {'connected_gene': 'OGFR-AS1', 'score': 11.31}, {'connected_gene': 'MTG2', 'score': 10.59}, {'connected_gene': 'MIR1-1', 'score': 10.55}, {'connected_gene': 'MIR1-1HG-AS1', 'score': 10.54}, {'connected_gene': 'MIR1-1HG', 'score': 10.54}, {'connected_gene': 'DIDO1', 'score': 8.72}, {'connected_gene': 'OSBPL2', 'score': 4.55}, {'connected_gene': 'DPH3P1', 'score': 2.03}, {'connected_gene': 'BHLHE23', 'score': 1.65}, {'connected_gene': 'GC20P062822', 'score': 0.77}, {'connected_gene': 'LOC101928465', 'score': 0.77}, {'connected_gene': 'SLCO4A1', 'score': 0.44}]