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
ENST00000357949 [[40927498, 40929453], [40931773, 40931932]] [[40928742, 40929453]]
NM_013376 [[40928407, 40929453], [40931773, 40931932]] [[40928742, 40929453]]
Promoter
Chrom Start End Description
chr19 40931891 40931908 CAGE_peak_1_at_SERTAD1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I040625 40625656 40626086 0.69 [{'connected_gene': 'SHKBP1', 'score': 24.7}, {'connected_gene': 'NUMBL', 'score': 10.54}, {'connected_gene': 'SERTAD3', 'score': 10.19}, {'connected_gene': 'SERTAD1', 'score': 10.18}, {'connected_gene': 'HIPK4', 'score': 9.59}, {'connected_gene': 'TTC9B', 'score': 9.27}, {'connected_gene': 'GC19M040606', 'score': 0.37}, {'connected_gene': 'GC19P040651', 'score': 0.31}, {'connected_gene': 'LTBP4', 'score': 0.29}]
chr19 GH19I040619 40619526 40620327 0.49 [{'connected_gene': 'SHKBP1', 'score': 24.38}, {'connected_gene': 'NUMBL', 'score': 10.53}, {'connected_gene': 'SERTAD3', 'score': 10.19}, {'connected_gene': 'SERTAD1', 'score': 10.18}, {'connected_gene': 'HIPK4', 'score': 9.59}, {'connected_gene': 'TTC9B', 'score': 9.27}, {'connected_gene': 'ZNF546', 'score': 4.67}, {'connected_gene': 'GC19M040606', 'score': 0.39}, {'connected_gene': 'LTBP4', 'score': 0.31}, {'connected_gene': 'GC19P040651', 'score': 0.29}]
chr19 GH19I040639 40639515 40642557 0.95 [{'connected_gene': 'NUMBL', 'score': 11.18}, {'connected_gene': 'SHKBP1', 'score': 11.17}, {'connected_gene': 'RNU6-195P', 'score': 11.14}, {'connected_gene': 'SNRPA', 'score': 10.76}, {'connected_gene': 'C19orf54', 'score': 10.76}, {'connected_gene': 'SERTAD3', 'score': 10.36}, {'connected_gene': 'SERTAD1', 'score': 10.36}, {'connected_gene': 'ENSG00000206925', 'score': 10.13}, {'connected_gene': 'C19orf47', 'score': 10.13}, {'connected_gene': 'PLD3', 'score': 10.13}, {'connected_gene': 'AXL', 'score': 9.79}, {'connected_gene': 'HIPK4', 'score': 9.64}, {'connected_gene': 'CYP2F1', 'score': 9.59}, {'connected_gene': 'ITPKC', 'score': 5.98}, {'connected_gene': 'LINC01480', 'score': 5.42}, {'connected_gene': 'EGLN2', 'score': 5.16}, {'connected_gene': 'GC19P040651', 'score': 0.39}, {'connected_gene': 'GC19M040606', 'score': 0.29}]
chr19 GH19I040596 40596673 40606718 2.63 [{'connected_gene': 'LTBP4', 'score': 566.4}, {'connected_gene': 'HNRNPUL1', 'score': 92.77}, {'connected_gene': 'ZNF780B', 'score': 88.8}, {'connected_gene': 'SNRPA', 'score': 85.82}, {'connected_gene': 'ENSG00000269843', 'score': 78.47}, {'connected_gene': 'CCDC97', 'score': 55.35}, {'connected_gene': 'AKT2', 'score': 50.58}, {'connected_gene': 'FBL', 'score': 47.21}, {'connected_gene': 'ZNF780A', 'score': 45.9}, {'connected_gene': 'CYP2G1P', 'score': 43.03}, {'connected_gene': 'NUMBL', 'score': 39.57}, {'connected_gene': 'COQ8B', 'score': 33.34}, {'connected_gene': 'ITPKC', 'score': 27.4}, {'connected_gene': 'SPTBN4', 'score': 25.06}, {'connected_gene': 'SHKBP1', 'score': 23.83}, {'connected_gene': 'AXL', 'score': 13.0}, {'connected_gene': 'ZNF546', 'score': 12.0}, {'connected_gene': 'PSMC4', 'score': 10.0}, {'connected_gene': 'SERTAD1', 'score': 4.03}, {'connected_gene': 'EGLN2', 'score': 1.34}, {'connected_gene': 'C19orf54', 'score': 1.22}, {'connected_gene': 'GC19M040606', 'score': 0.44}]
chr19 GH19I040415 40415678 40418505 1.7 [{'connected_gene': 'SNRPA', 'score': 26.52}, {'connected_gene': 'CCDC97', 'score': 25.96}, {'connected_gene': 'ENSG00000269843', 'score': 24.34}, {'connected_gene': 'HNRNPUL1', 'score': 18.27}, {'connected_gene': 'SERTAD3', 'score': 16.5}, {'connected_gene': 'PRX', 'score': 13.57}, {'connected_gene': 'FBL', 'score': 13.02}, {'connected_gene': 'AKT2', 'score': 11.29}, {'connected_gene': 'COQ8B', 'score': 10.86}, {'connected_gene': 'ZNF780A', 'score': 10.82}, {'connected_gene': 'ITPKC', 'score': 10.68}, {'connected_gene': 'ZNF780B', 'score': 9.7}, {'connected_gene': 'SHKBP1', 'score': 2.6}, {'connected_gene': 'EGLN2', 'score': 2.07}, {'connected_gene': 'C19orf54', 'score': 1.3}, {'connected_gene': 'SERTAD1', 'score': 0.44}, {'connected_gene': 'GC19M040397', 'score': 0.12}]
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 GH19I040462 40462952 40467472 2.38 [{'connected_gene': 'BLVRB', 'score': 552.75}, {'connected_gene': 'SPTBN4', 'score': 550.77}, {'connected_gene': 'ENSG00000269843', 'score': 87.61}, {'connected_gene': 'SNRPA', 'score': 84.29}, {'connected_gene': 'HNRNPUL1', 'score': 72.16}, {'connected_gene': 'ZNF780B', 'score': 53.2}, {'connected_gene': 'AKT2', 'score': 45.01}, {'connected_gene': 'CCDC97', 'score': 44.97}, {'connected_gene': 'FBL', 'score': 33.75}, {'connected_gene': 'SERTAD3', 'score': 31.18}, {'connected_gene': 'ZNF780A', 'score': 29.59}, {'connected_gene': 'CYP2G1P', 'score': 24.2}, {'connected_gene': 'COQ8B', 'score': 20.39}, {'connected_gene': 'ITPKC', 'score': 19.87}, {'connected_gene': 'PSMC4', 'score': 19.08}, {'connected_gene': 'SERTAD1', 'score': 11.98}, {'connected_gene': 'ENSG00000277510', 'score': 0.39}, {'connected_gene': 'GC19M040397', 'score': 0.17}]
chr19 GH19I039940 39940146 39946863 1.34 [{'connected_gene': 'PRR13P5', 'score': 550.77}, {'connected_gene': 'FCGBP', 'score': 35.8}, {'connected_gene': 'ZNF780A', 'score': 24.88}, {'connected_gene': 'PSMC4', 'score': 12.31}, {'connected_gene': 'SNRPA', 'score': 11.54}, {'connected_gene': 'FBL', 'score': 10.37}, {'connected_gene': 'ENSG00000269843', 'score': 10.19}, {'connected_gene': 'CNTD2', 'score': 9.73}, {'connected_gene': 'TTC9B', 'score': 9.73}, {'connected_gene': 'COQ8B', 'score': 9.72}, {'connected_gene': 'ZNF546', 'score': 2.89}, {'connected_gene': 'SERTAD1', 'score': 1.32}]
chr19 GH19I040190 40190074 40192401 2.28 [{'connected_gene': 'MAP3K10', 'score': 559.26}, {'connected_gene': 'ZNF780B', 'score': 45.96}, {'connected_gene': 'NUMBL', 'score': 37.89}, {'connected_gene': 'CYP2G1P', 'score': 31.54}, {'connected_gene': 'EID2B', 'score': 28.78}, {'connected_gene': 'SUPT5H', 'score': 18.22}, {'connected_gene': 'AKT2', 'score': 15.17}, {'connected_gene': 'PAF1', 'score': 13.11}, {'connected_gene': 'TTC9B', 'score': 12.48}, {'connected_gene': 'CNTD2', 'score': 12.17}, {'connected_gene': 'ENSG00000269843', 'score': 12.14}, {'connected_gene': 'ZNF546', 'score': 12.05}, {'connected_gene': 'SNRPA', 'score': 11.84}, {'connected_gene': 'ZNF780A', 'score': 10.88}, {'connected_gene': 'RN7SL566P', 'score': 10.68}, {'connected_gene': 'PSMC4', 'score': 10.67}, {'connected_gene': 'FBL', 'score': 10.47}, {'connected_gene': 'HIPK4', 'score': 10.42}, {'connected_gene': 'ENSG00000206925', 'score': 10.1}, {'connected_gene': 'C19orf47', 'score': 10.1}, {'connected_gene': 'PLD3', 'score': 10.1}, {'connected_gene': 'FCGBP', 'score': 5.32}, {'connected_gene': 'SERTAD1', 'score': 2.17}, {'connected_gene': 'GC19M039966', 'score': 0.31}]
chr19 GH19I040420 40420294 40426860 2.76 [{'connected_gene': 'SERTAD1', 'score': 552.11}, {'connected_gene': 'CCDC97', 'score': 25.96}, {'connected_gene': 'SERTAD3', 'score': 22.15}, {'connected_gene': 'ITPKC', 'score': 19.28}, {'connected_gene': 'HNRNPUL1', 'score': 18.27}, {'connected_gene': 'SNRPA', 'score': 17.11}, {'connected_gene': 'ENSG00000269843', 'score': 15.23}, {'connected_gene': 'FBL', 'score': 13.02}, {'connected_gene': 'ZNF780B', 'score': 11.94}, {'connected_gene': 'AKT2', 'score': 11.29}, {'connected_gene': 'COQ8B', 'score': 10.86}, {'connected_gene': 'ZNF780A', 'score': 10.83}, {'connected_gene': 'PRX', 'score': 6.34}, {'connected_gene': 'ENSG00000277453', 'score': 0.77}, {'connected_gene': 'GC19M040397', 'score': 0.13}]
chr19 GH19I040431 40431928 40435552 1.78 [{'connected_gene': 'SERTAD3', 'score': 25.92}, {'connected_gene': 'HNRNPUL1', 'score': 13.67}, {'connected_gene': 'ENSG00000269843', 'score': 12.75}, {'connected_gene': 'SNRPA', 'score': 12.53}, {'connected_gene': 'SERTAD1', 'score': 1.84}, {'connected_gene': 'ENSG00000277453', 'score': 0.44}, {'connected_gene': 'LOC105372489', 'score': 0.44}, {'connected_gene': 'GC19M040397', 'score': 0.13}]
chr19 GH19I040365 40365351 40368601 1.9 [{'connected_gene': 'PLD3', 'score': 555.77}, {'connected_gene': 'ENSG00000206925', 'score': 11.61}, {'connected_gene': 'SERTAD1', 'score': 11.06}, {'connected_gene': 'SERTAD3', 'score': 11.02}, {'connected_gene': 'TTC9B', 'score': 9.84}, {'connected_gene': 'HIPK4', 'score': 8.17}, {'connected_gene': 'PRX', 'score': 6.73}, {'connected_gene': 'MIR6796', 'score': 0.77}, {'connected_gene': 'ENSG00000279759', 'score': 0.39}]
chr19 GH19I040461 40461195 40462414 1.07 [{'connected_gene': 'CYP2G1P', 'score': 22.99}, {'connected_gene': 'SERTAD3', 'score': 17.26}, {'connected_gene': 'SERTAD1', 'score': 12.75}, {'connected_gene': 'PRX', 'score': 12.48}, {'connected_gene': 'ZNF546', 'score': 12.01}, {'connected_gene': 'PLD3', 'score': 10.98}, {'connected_gene': 'C19orf47', 'score': 10.98}, {'connected_gene': 'ENSG00000206925', 'score': 10.97}, {'connected_gene': 'EID2', 'score': 10.26}, {'connected_gene': 'ZNF780B', 'score': 9.81}, {'connected_gene': 'EID2B', 'score': 9.74}, {'connected_gene': 'BLVRB', 'score': 0.77}, {'connected_gene': 'ENSG00000277510', 'score': 0.39}, {'connected_gene': 'GC19M040397', 'score': 0.16}]
chr19 GH19I040622 40622539 40624519 1.39 [{'connected_gene': 'ZNF780B', 'score': 28.48}, {'connected_gene': 'SHKBP1', 'score': 24.49}, {'connected_gene': 'NUMBL', 'score': 21.74}, {'connected_gene': 'CYP2G1P', 'score': 11.08}, {'connected_gene': 'ZNF780A', 'score': 10.66}, {'connected_gene': 'ZNF546', 'score': 10.32}, {'connected_gene': 'SERTAD3', 'score': 10.19}, {'connected_gene': 'SERTAD1', 'score': 10.18}, {'connected_gene': 'HIPK4', 'score': 9.59}, {'connected_gene': 'TTC9B', 'score': 9.27}, {'connected_gene': 'GC19M040606', 'score': 0.37}, {'connected_gene': 'GC19P040651', 'score': 0.31}, {'connected_gene': 'LTBP4', 'score': 0.29}]
chr19 GH19I040054 40054801 40057116 2.03 [{'connected_gene': 'ZNF780B', 'score': 587.1}, {'connected_gene': 'ZNF780A', 'score': 33.07}, {'connected_gene': 'SNRPA', 'score': 27.78}, {'connected_gene': 'ENSG00000269843', 'score': 21.4}, {'connected_gene': 'SERTAD3', 'score': 19.13}, {'connected_gene': 'SUPT5H', 'score': 18.93}, {'connected_gene': 'COQ8B', 'score': 17.93}, {'connected_gene': 'CYP2G1P', 'score': 15.86}, {'connected_gene': 'PAK4', 'score': 14.3}, {'connected_gene': 'FBL', 'score': 14.18}, {'connected_gene': 'EID2B', 'score': 13.55}, {'connected_gene': 'PLEKHG2', 'score': 12.88}, {'connected_gene': 'SPTBN4', 'score': 12.85}, {'connected_gene': 'ZNF546', 'score': 12.1}, {'connected_gene': 'PAF1', 'score': 11.61}, {'connected_gene': 'RN7SL566P', 'score': 11.36}, {'connected_gene': 'TTC9B', 'score': 10.84}, {'connected_gene': 'CNTD2', 'score': 10.84}, {'connected_gene': 'ENSG00000268366', 'score': 10.81}, {'connected_gene': 'EID2', 'score': 10.26}, {'connected_gene': 'SAMD4B', 'score': 10.07}, {'connected_gene': 'ITPKC', 'score': 9.88}, {'connected_gene': 'RPS16', 'score': 9.69}, {'connected_gene': 'SERTAD1', 'score': 8.91}, {'connected_gene': 'ENSG00000269069', 'score': 0.29}, {'connected_gene': 'ENSG00000269749', 'score': 0.29}, {'connected_gene': 'GC19M039966', 'score': 0.14}]
chr19 GH19I041321 41321104 41329517 1.78 [{'connected_gene': 'ZNF526', 'score': 33.64}, {'connected_gene': 'HNRNPUL1', 'score': 30.77}, {'connected_gene': 'SNRPA', 'score': 23.98}, {'connected_gene': 'ENSG00000269843', 'score': 22.66}, {'connected_gene': 'CCDC97', 'score': 20.45}, {'connected_gene': 'TGFB1', 'score': 17.65}, {'connected_gene': 'CIC', 'score': 11.09}, {'connected_gene': 'RPS19', 'score': 10.83}, {'connected_gene': 'NUMBL', 'score': 10.77}, {'connected_gene': 'COQ8B', 'score': 10.75}, {'connected_gene': 'SERTAD1', 'score': 10.49}, {'connected_gene': 'ITPKC', 'score': 10.44}, {'connected_gene': 'BLVRB', 'score': 10.12}, {'connected_gene': 'ZNF574', 'score': 9.85}, {'connected_gene': 'B9D2', 'score': 4.96}, {'connected_gene': 'CEACAM4', 'score': 2.91}, {'connected_gene': 'TMEM91', 'score': 2.46}, {'connected_gene': 'CEACAM21', 'score': 1.64}, {'connected_gene': 'CEACAM3', 'score': 1.31}, {'connected_gene': 'CYP2A13', 'score': 1.27}, {'connected_gene': 'ENSG00000255730', 'score': 0.31}]
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 GH19I040304 40304054 40304103 0.46 [{'connected_gene': 'ENSG00000206925', 'score': 11.72}, {'connected_gene': 'PLD3', 'score': 11.71}, {'connected_gene': 'C19orf47', 'score': 11.71}, {'connected_gene': 'SERTAD1', 'score': 11.37}, {'connected_gene': 'SERTAD3', 'score': 11.36}, {'connected_gene': 'HIPK4', 'score': 11.3}, {'connected_gene': 'TTC9B', 'score': 10.92}, {'connected_gene': 'CNTD2', 'score': 10.91}, {'connected_gene': 'SHKBP1', 'score': 10.82}, {'connected_gene': 'GC19M040298', 'score': 0.77}, {'connected_gene': 'ENSG00000207281', 'score': 0.28}]
chr19 GH19I040302 40302294 40302443 0.49 [{'connected_gene': 'ENSG00000206925', 'score': 11.72}, {'connected_gene': 'PLD3', 'score': 11.69}, {'connected_gene': 'C19orf47', 'score': 11.69}, {'connected_gene': 'SERTAD1', 'score': 11.37}, {'connected_gene': 'SERTAD3', 'score': 11.36}, {'connected_gene': 'HIPK4', 'score': 11.3}, {'connected_gene': 'TTC9B', 'score': 10.93}, {'connected_gene': 'CNTD2', 'score': 10.91}, {'connected_gene': 'SHKBP1', 'score': 10.82}, {'connected_gene': 'GC19M040298', 'score': 0.77}, {'connected_gene': 'ENSG00000207281', 'score': 0.28}]

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