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
ENST00000594800 [[41284120, 41284296], [41285923, 41286004], [41286289, 41286404], [41289682, 41289745], [41289825, 41289980], [41292569, 41292665], [41292752, 41292883], [41298121, 41298477]] [[41284280, 41284296], [41285923, 41286004], [41286289, 41286404], [41289682, 41289745], [41289825, 41289980], [41292569, 41292665], [41292752, 41292868]]
ENST00000602069 [[41284154, 41284296], [41285923, 41286002], [41286289, 41286404], [41289825, 41289980], [41292569, 41292665]] None
ENST00000357052 [[41284170, 41284296], [41285923, 41286004], [41286289, 41286404], [41289682, 41289745], [41289825, 41289980], [41292569, 41292665], [41292752, 41292883], [41302474, 41302847]] [[41284280, 41284296], [41285923, 41286004], [41286289, 41286404], [41289682, 41289745], [41289825, 41289980], [41292569, 41292665], [41292752, 41292868]]
ENST00000600078 [[41284178, 41284296], [41285923, 41286404], [41289682, 41289745], [41289825, 41289878]] None
ENST00000378307 [[41284213, 41284296], [41285923, 41286004], [41286289, 41286404], [41289682, 41289745], [41292569, 41292665], [41292752, 41292883], [41302474, 41302795]] [[41284280, 41284296], [41285923, 41286004], [41286289, 41286404], [41289682, 41289745], [41292569, 41292660]]
ENST00000602173 [[41284282, 41284296], [41285923, 41286004], [41286289, 41286404], [41289825, 41289980], [41292569, 41292665], [41292752, 41292883]] [[41284282, 41284296], [41285923, 41286004], [41286289, 41286404], [41289825, 41289980], [41292569, 41292665], [41292752, 41292868]]
ENST00000597476 [[41284951, 41286004], [41286289, 41286404], [41289682, 41289745], [41289825, 41289980], [41292569, 41292665], [41292752, 41292883], [41302474, 41302843]] None
ENST00000595728 [[41286289, 41286404], [41289682, 41289745], [41289825, 41289980], [41292569, 41292665], [41292752, 41292883], [41302474, 41302847]] [[41286289, 41286404], [41289682, 41289745], [41289825, 41289980], [41292569, 41292665], [41292752, 41292868]]
ENST00000598430 [[41291437, 41292665], [41292752, 41292883], [41302474, 41302843]] None
NM_016154 [[41284123, 41284296], [41285923, 41286004], [41286289, 41286404], [41289682, 41289745], [41289825, 41289980], [41292569, 41292665], [41292752, 41292883], [41302474, 41302849]] [[41284280, 41284296], [41285923, 41286004], [41286289, 41286404], [41289682, 41289745], [41289825, 41289980], [41292569, 41292665], [41292752, 41292868]]
Promoter
Chrom Start End Description
chr19 41281344 41281363 CAGE_peak_2_at_MIA_5end,CAGE_peak_3_at_RAB4B_5end
chr19 41281630 41281644 CAGE_peak_6_at_RAB4B_5end
chr19 41284095 41284104 CAGE_peak_2_at_RAB4B_5end
chr19 41284135 41284211 CAGE_peak_1_at_MIA_5end,CAGE_peak_1_at_RAB4B_5end,CAGE_peak_2_at_EGLN2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I040783 40783145 40783360 0.46 [{'connected_gene': 'SHKBP1', 'score': 4.81}, {'connected_gene': 'EGLN2', 'score': 3.02}, {'connected_gene': 'COQ8B', 'score': 1.69}, {'connected_gene': 'RAB4B', 'score': 1.62}, {'connected_gene': 'SERTAD3', 'score': 1.25}, {'connected_gene': 'RAB4B-EGLN2', 'score': 0.44}, {'connected_gene': 'MIA-RAB4B', 'score': 0.39}, {'connected_gene': 'ENSG00000282951', 'score': 0.39}, {'connected_gene': 'GC19P040724', 'score': 0.22}]
chr19 GH19I040774 40774638 40775915 0.93 [{'connected_gene': 'MIA', 'score': 562.43}, {'connected_gene': 'C19orf54', 'score': 18.08}, {'connected_gene': 'SNRPA', 'score': 12.28}, {'connected_gene': 'RNU6-195P', 'score': 11.41}, {'connected_gene': 'ITPKC', 'score': 7.34}, {'connected_gene': 'RAB4B', 'score': 5.74}, {'connected_gene': 'MIA-RAB4B', 'score': 0.77}, {'connected_gene': 'GC19P040724', 'score': 0.23}]
chr19 GH19I040713 40713745 40722950 2.86 [{'connected_gene': 'ITPKC', 'score': 602.28}, {'connected_gene': 'COQ8B', 'score': 575.26}, {'connected_gene': 'SNRPA', 'score': 105.59}, {'connected_gene': 'HNRNPUL1', 'score': 98.06}, {'connected_gene': 'ENSG00000269843', 'score': 86.68}, {'connected_gene': 'ZNF780B', 'score': 82.21}, {'connected_gene': 'CCDC97', 'score': 75.21}, {'connected_gene': 'FBL', 'score': 55.15}, {'connected_gene': 'AKT2', 'score': 46.21}, {'connected_gene': 'ZNF780A', 'score': 37.09}, {'connected_gene': 'PSMC4', 'score': 36.36}, {'connected_gene': 'NUMBL', 'score': 30.24}, {'connected_gene': 'CYP2G1P', 'score': 25.15}, {'connected_gene': 'ZNF546', 'score': 22.5}, {'connected_gene': 'CYP2F2P', 'score': 11.41}, {'connected_gene': 'ENSG00000268366', 'score': 10.82}, {'connected_gene': 'SERTAD3', 'score': 10.28}, {'connected_gene': 'C19orf54', 'score': 7.01}, {'connected_gene': 'MIA', 'score': 6.4}, {'connected_gene': 'PLD3', 'score': 4.21}, {'connected_gene': 'RAB4B', 'score': 1.94}, {'connected_gene': 'EGLN2', 'score': 1.46}, {'connected_gene': 'LTBP4', 'score': 1.32}, {'connected_gene': 'SPTBN4', 'score': 1.29}, {'connected_gene': 'CYP2B6', 'score': 1.14}, {'connected_gene': 'GC19P040724', 'score': 0.44}]
chr19 GH19I040747 40747874 40757648 2.62 [{'connected_gene': 'SNRPA', 'score': 660.01}, {'connected_gene': 'C19orf54', 'score': 564.09}, {'connected_gene': 'HNRNPUL1', 'score': 123.18}, {'connected_gene': 'ENSG00000269843', 'score': 88.05}, {'connected_gene': 'CCDC97', 'score': 75.31}, {'connected_gene': 'COQ8B', 'score': 67.85}, {'connected_gene': 'ZNF780A', 'score': 67.24}, {'connected_gene': 'FBL', 'score': 62.28}, {'connected_gene': 'AKT2', 'score': 62.26}, {'connected_gene': 'ZNF780B', 'score': 53.67}, {'connected_gene': 'ITPKC', 'score': 43.09}, {'connected_gene': 'PSMC4', 'score': 37.48}, {'connected_gene': 'CYP2G1P', 'score': 25.53}, {'connected_gene': 'SERTAD3', 'score': 22.59}, {'connected_gene': 'ZNF546', 'score': 20.56}, {'connected_gene': 'CYP2F2P', 'score': 19.56}, {'connected_gene': 'NUMBL', 'score': 18.72}, {'connected_gene': 'AXL', 'score': 13.02}, {'connected_gene': 'SPTBN4', 'score': 12.87}, {'connected_gene': 'ENSG00000268366', 'score': 12.63}, {'connected_gene': 'RAB4B-EGLN2', 'score': 12.17}, {'connected_gene': 'RAB4B', 'score': 12.17}, {'connected_gene': 'RNU6-195P', 'score': 12.16}, {'connected_gene': 'EGLN2', 'score': 12.11}, {'connected_gene': 'CYP2T1P', 'score': 10.71}, {'connected_gene': 'LTBP4', 'score': 9.74}, {'connected_gene': 'MIA', 'score': 9.48}, {'connected_gene': 'CYP2B6', 'score': 3.64}, {'connected_gene': 'CYP2A13', 'score': 1.98}, {'connected_gene': 'CYP2A6', 'score': 1.77}, {'connected_gene': 'SERTAD1', 'score': 1.62}, {'connected_gene': 'SHKBP1', 'score': 1.46}, {'connected_gene': 'GC19P040765', 'score': 0.39}, {'connected_gene': 'GC19P040724', 'score': 0.31}]
chr19 GH19I040612 40612501 40616464 1.7 [{'connected_gene': 'SNRPA', 'score': 54.98}, {'connected_gene': 'ENSG00000269843', 'score': 39.03}, {'connected_gene': 'HNRNPUL1', 'score': 36.22}, {'connected_gene': 'PSMC4', 'score': 28.22}, {'connected_gene': 'SERTAD3', 'score': 23.65}, {'connected_gene': 'CCDC97', 'score': 22.99}, {'connected_gene': 'FBL', 'score': 21.18}, {'connected_gene': 'SHKBP1', 'score': 20.47}, {'connected_gene': 'ITPKC', 'score': 19.63}, {'connected_gene': 'AKT2', 'score': 14.62}, {'connected_gene': 'NUMBL', 'score': 11.16}, {'connected_gene': 'RAB4B-EGLN2', 'score': 10.75}, {'connected_gene': 'RAB4B', 'score': 10.75}, {'connected_gene': 'EGLN2', 'score': 10.74}, {'connected_gene': 'CYP2F2P', 'score': 10.51}, {'connected_gene': 'C19orf54', 'score': 10.48}, {'connected_gene': 'SERTAD1', 'score': 10.3}, {'connected_gene': 'ZNF780A', 'score': 9.91}, {'connected_gene': 'LTBP4', 'score': 8.39}, {'connected_gene': 'GC19M040606', 'score': 0.44}, {'connected_gene': 'GC19P040651', 'score': 0.28}]
chr19 GH19I040665 40665622 40667350 1.16 [{'connected_gene': 'C19orf54', 'score': 15.41}, {'connected_gene': 'RNU6-195P', 'score': 12.42}, {'connected_gene': 'ZNF546', 'score': 12.0}, {'connected_gene': 'CYP2G1P', 'score': 11.45}, {'connected_gene': 'RAB4B', 'score': 11.09}, {'connected_gene': 'RAB4B-EGLN2', 'score': 11.09}, {'connected_gene': 'SNRPA', 'score': 11.08}, {'connected_gene': 'EGLN2', 'score': 11.07}, {'connected_gene': 'ZNF780B', 'score': 9.79}, {'connected_gene': 'COQ8B', 'score': 6.01}, {'connected_gene': 'ITPKC', 'score': 5.55}, {'connected_gene': 'PIR47829', 'score': 0.77}, {'connected_gene': 'NUMBL', 'score': 0.31}]
chr19 GH19I040791 40791440 40793784 0.85 [{'connected_gene': 'EGLN2', 'score': 9.58}, {'connected_gene': 'CYP2T1P', 'score': 7.32}, {'connected_gene': 'COQ8B', 'score': 6.49}, {'connected_gene': 'ENSG00000282951', 'score': 0.77}, {'connected_gene': 'RAB4B', 'score': 0.39}, {'connected_gene': 'RAB4B-EGLN2', 'score': 0.39}, {'connected_gene': 'MIA-RAB4B', 'score': 0.34}, {'connected_gene': 'GC19P040724', 'score': 0.2}]
chr19 GH19I040796 40796426 40808248 2.8 [{'connected_gene': 'EGLN2', 'score': 564.82}, {'connected_gene': 'ENSG00000268797', 'score': 550.77}, {'connected_gene': 'ZNF780B', 'score': 97.7}, {'connected_gene': 'HNRNPUL1', 'score': 55.82}, {'connected_gene': 'SNRPA', 'score': 51.9}, {'connected_gene': 'ENSG00000269843', 'score': 44.08}, {'connected_gene': 'NUMBL', 'score': 39.53}, {'connected_gene': 'CCDC97', 'score': 35.89}, {'connected_gene': 'ZNF546', 'score': 32.67}, {'connected_gene': 'COQ8B', 'score': 31.09}, {'connected_gene': 'CYP2G1P', 'score': 29.21}, {'connected_gene': 'FBL', 'score': 25.31}, {'connected_gene': 'ITPKC', 'score': 24.16}, {'connected_gene': 'AKT2', 'score': 23.99}, {'connected_gene': 'ZNF780A', 'score': 19.73}, {'connected_gene': 'PSMC4', 'score': 19.07}, {'connected_gene': 'ENSG00000268366', 'score': 10.81}, {'connected_gene': 'CYP2T1P', 'score': 10.71}, {'connected_gene': 'SERTAD3', 'score': 10.26}, {'connected_gene': 'C19orf54', 'score': 9.19}, {'connected_gene': 'RAB4B', 'score': 1.91}, {'connected_gene': 'SERTAD1', 'score': 1.45}, {'connected_gene': 'SHKBP1', 'score': 1.15}, {'connected_gene': 'GC19P040805', 'score': 0.77}, {'connected_gene': 'PIR49044', 'score': 0.44}, {'connected_gene': 'ENSG00000282951', 'score': 0.44}, {'connected_gene': 'GC19P040810', 'score': 0.44}, {'connected_gene': 'RAB4B-EGLN2', 'score': 0.34}, {'connected_gene': 'MIA-RAB4B', 'score': 0.29}, {'connected_gene': 'GC19P040724', 'score': 0.18}]
chr19 GH19I041261 41261224 41268475 2.67 [{'connected_gene': 'HNRNPUL1', 'score': 619.34}, {'connected_gene': 'ZNF526', 'score': 88.46}, {'connected_gene': 'ZNF574', 'score': 71.26}, {'connected_gene': 'CCDC97', 'score': 48.42}, {'connected_gene': 'SNRPA', 'score': 40.08}, {'connected_gene': 'ENSG00000269843', 'score': 33.03}, {'connected_gene': 'CYP2F2P', 'score': 28.11}, {'connected_gene': 'NUMBL', 'score': 20.2}, {'connected_gene': 'ITPKC', 'score': 19.18}, {'connected_gene': 'SPTBN4', 'score': 13.96}, {'connected_gene': 'CYP2G1P', 'score': 13.38}, {'connected_gene': 'ENSG00000268366', 'score': 12.6}, {'connected_gene': 'GRIK5', 'score': 11.8}, {'connected_gene': 'AKT2', 'score': 11.01}, {'connected_gene': 'SERTAD3', 'score': 10.94}, {'connected_gene': 'EXOSC5', 'score': 10.23}, {'connected_gene': 'BCKDHA', 'score': 10.23}, {'connected_gene': 'COQ8B', 'score': 10.12}, {'connected_gene': 'TGFB1', 'score': 10.03}, {'connected_gene': 'ARHGEF1', 'score': 10.01}, {'connected_gene': 'AXL', 'score': 8.73}, {'connected_gene': 'CEACAM21', 'score': 6.09}, {'connected_gene': 'B9D2', 'score': 4.91}, {'connected_gene': 'CEACAM4', 'score': 4.83}, {'connected_gene': 'EGLN2', 'score': 2.98}, {'connected_gene': 'TMEM91', 'score': 1.75}, {'connected_gene': 'RAB4B', 'score': 1.24}, {'connected_gene': 'RN7SL34P', 'score': 0.34}]
chr19 GH19I040776 40776302 40779584 2.28 [{'connected_gene': 'RAB4B-EGLN2', 'score': 550.77}, {'connected_gene': 'RAB4B', 'score': 550.77}, {'connected_gene': 'HNRNPUL1', 'score': 34.28}, {'connected_gene': 'SNRPA', 'score': 33.46}, {'connected_gene': 'CCDC97', 'score': 27.49}, {'connected_gene': 'PSMC4', 'score': 27.44}, {'connected_gene': 'FBL', 'score': 23.93}, {'connected_gene': 'C19orf54', 'score': 12.25}, {'connected_gene': 'MIA', 'score': 12.07}, {'connected_gene': 'CYP2F2P', 'score': 11.52}, {'connected_gene': 'RNU6-195P', 'score': 11.41}, {'connected_gene': 'ENSG00000268366', 'score': 11.26}, {'connected_gene': 'SERTAD3', 'score': 10.96}, {'connected_gene': 'ENSG00000269843', 'score': 10.96}, {'connected_gene': 'SHKBP1', 'score': 10.8}, {'connected_gene': 'ITPKC', 'score': 7.6}, {'connected_gene': 'CYP2T1P', 'score': 6.56}, {'connected_gene': 'COQ8B', 'score': 5.93}, {'connected_gene': 'MIA-RAB4B', 'score': 0.44}, {'connected_gene': 'GC19P040724', 'score': 0.23}]
chr19 GH19I040662 40662335 40665158 1.3 [{'connected_gene': 'PIR47829', 'score': 550.77}, {'connected_gene': 'SNRPA', 'score': 60.34}, {'connected_gene': 'HNRNPUL1', 'score': 48.14}, {'connected_gene': 'FBL', 'score': 40.79}, {'connected_gene': 'ENSG00000269843', 'score': 36.87}, {'connected_gene': 'AKT2', 'score': 33.28}, {'connected_gene': 'CCDC97', 'score': 33.25}, {'connected_gene': 'ZNF780A', 'score': 28.44}, {'connected_gene': 'ITPKC', 'score': 24.59}, {'connected_gene': 'RAB4B', 'score': 17.32}, {'connected_gene': 'C19orf54', 'score': 17.13}, {'connected_gene': 'SPTBN4', 'score': 14.01}, {'connected_gene': 'NUMBL', 'score': 13.13}, {'connected_gene': 'RNU6-195P', 'score': 12.42}, {'connected_gene': 'ZNF780B', 'score': 11.92}, {'connected_gene': 'RAB4B-EGLN2', 'score': 11.3}, {'connected_gene': 'EGLN2', 'score': 11.28}, {'connected_gene': 'COQ8B', 'score': 11.03}, {'connected_gene': 'PSMC4', 'score': 10.62}, {'connected_gene': 'GC19P040651', 'score': 0.39}]

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