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
ENST00000370501 [[61340188, 61341273], [61386036, 61386238], [61389617, 61389708], [61391369, 61394123]] [[61340559, 61341273], [61386036, 61386238], [61389617, 61389708], [61391369, 61391619]]
ENST00000482259 [[61387982, 61388087], [61389617, 61389708], [61391369, 61394123]] None
NM_002531 [[61340188, 61341273], [61386036, 61386238], [61389617, 61389708], [61391369, 61394123]] [[61340559, 61341273], [61386036, 61386238], [61389617, 61389708], [61391369, 61391619]]
Promoter
Chrom Start End Description
chr20 61340152 61340173 CAGE_peak_2_at_NTSR1_5end
chr20 61340179 61340195 CAGE_peak_1_at_NTSR1_5end
chr20 61340492 61340503 CAGE_peak_6_at_NTSR1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 GH20I062760 62760557 62761143 0.2 [{'connected_gene': 'NTSR1', 'score': 16.63}, {'connected_gene': 'LINC00686', 'score': 11.89}, {'connected_gene': 'ENSG00000223669', 'score': 11.45}, {'connected_gene': 'GC20M062750', 'score': 0.44}, {'connected_gene': 'GC20P062821', 'score': 0.39}]
chr20 GH20I062702 62702726 62706569 1.36 [{'connected_gene': 'NTSR1', 'score': 0.77}, {'connected_gene': 'LINC00686', 'score': 0.77}]
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 GH20I062751 62751608 62751718 0.38 [{'connected_gene': 'NTSR1', 'score': 12.26}, {'connected_gene': 'LINC00659', 'score': 12.14}, {'connected_gene': 'SLCO4A1-AS1', 'score': 11.77}, {'connected_gene': 'SLCO4A1', 'score': 11.73}, {'connected_gene': 'MIR133A2', 'score': 10.42}, {'connected_gene': 'GC20M062750', 'score': 0.77}, {'connected_gene': 'ENSG00000223669', 'score': 0.37}]
chr20 GH20I062677 62677479 62679200 0.49 [{'connected_gene': 'NTSR1', 'score': 12.82}, {'connected_gene': 'SLCO4A1-AS1', 'score': 0.39}, {'connected_gene': 'LINC00686', 'score': 0.34}, {'connected_gene': 'SLCO4A1', 'score': 0.28}]
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 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 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 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 GH20I062668 62668589 62668778 1.08 [{'connected_gene': 'SLCO4A1-AS1', 'score': 550.77}, {'connected_gene': 'LINC00686', 'score': 12.37}, {'connected_gene': 'NTSR1', 'score': 12.33}, {'connected_gene': 'ENSG00000223669', 'score': 11.11}, {'connected_gene': 'GC20P062822', 'score': 0.37}, {'connected_gene': 'SLCO4A1', 'score': 0.31}]
chr20 GH20I062666 62666139 62668416 1.14 [{'connected_gene': 'SLCO4A1-AS1', 'score': 550.77}, {'connected_gene': 'LINC00686', 'score': 12.37}, {'connected_gene': 'NTSR1', 'score': 12.33}, {'connected_gene': 'ENSG00000223669', 'score': 11.11}, {'connected_gene': 'GC20P062822', 'score': 0.37}, {'connected_gene': 'SLCO4A1', 'score': 0.34}]
chr20 GH20I062752 62752201 62752800 0.6 [{'connected_gene': 'GC20M062750', 'score': 550.77}, {'connected_gene': 'NTSR1', 'score': 12.26}, {'connected_gene': 'LINC00659', 'score': 12.17}, {'connected_gene': 'SLCO4A1-AS1', 'score': 11.76}, {'connected_gene': 'SLCO4A1', 'score': 11.73}, {'connected_gene': 'MIR133A2', 'score': 10.42}, {'connected_gene': 'TCFL5', 'score': 4.71}, {'connected_gene': 'ENSG00000223669', 'score': 0.37}]
chr20 GH20I062734 62734320 62735946 0.96 [{'connected_gene': 'ENSG00000223669', 'score': 550.77}, {'connected_gene': 'NTSR1', 'score': 0.31}]
chr20 GH20I062733 62732469 62732618 0.4 [{'connected_gene': 'ENSG00000223669', 'score': 0.77}, {'connected_gene': 'NTSR1', 'score': 0.34}]