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
ENST00000314485 [[160061129, 160061398], [160061597, 160061728], [160062071, 160062485], [160062713, 160063121], [160063499, 160063961], [160064658, 160065036], [160068198, 160068479]] [[160061612, 160061728], [160062071, 160062485], [160062713, 160063121], [160063499, 160063961], [160064658, 160065036], [160068198, 160068262]]
ENST00000368086 [[160061129, 160061421], [160061597, 160061728], [160062071, 160062485], [160062713, 160063121], [160063499, 160063961], [160064658, 160065036], [160068198, 160068479]] [[160061612, 160061728], [160062071, 160062485], [160062713, 160063121], [160063499, 160063961], [160064658, 160065036], [160068198, 160068262]]
ENST00000448417 [[160063499, 160063961], [160064658, 160065036], [160068198, 160068307], [160068623, 160068733]] [[160063499, 160063961], [160064658, 160065036], [160068198, 160068262]]
ENST00000460351 [[160063549, 160063961], [160064658, 160065122]] None
NM_001320247 [[160061128, 160061421], [160061597, 160061728], [160062071, 160062485], [160062713, 160063121], [160063499, 160063961], [160064658, 160065036], [160068198, 160068479]] [[160061612, 160061728], [160062071, 160062485], [160062713, 160063121], [160063499, 160063961], [160064658, 160065036], [160068198, 160068262]]
NM_052868 [[160061128, 160061398], [160061597, 160061728], [160062071, 160062485], [160062713, 160063121], [160063499, 160063961], [160064658, 160065036], [160068198, 160068479]] [[160061612, 160061728], [160062071, 160062485], [160062713, 160063121], [160063499, 160063961], [160064658, 160065036], [160068198, 160068262]]
NM_001206665 [[160061128, 160061398], [160061597, 160061728], [160062071, 160062485], [160062713, 160063121], [160063499, 160063961], [160064658, 160065036], [160068198, 160068307], [160068588, 160068618]] [[160061612, 160061728], [160062071, 160062485], [160062713, 160063121], [160063499, 160063961], [160064658, 160065036], [160068198, 160068262]]
Promoter
Chrom Start End Description
chr1 160068271 160068323 CAGE_peak_2_at_IGSF8_5end
chr1 160068357 160068379 CAGE_peak_3_at_IGSF8_5end
chr1 160068383 160068419 CAGE_peak_1_at_IGSF8_5end
chr1 160068453 160068464 CAGE_peak_4_at_IGSF8_5end
chr1 160068465 160068476 CAGE_peak_5_at_IGSF8_5end
chr1 160068645 160068666 CAGE_peak_6_at_IGSF8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I160075 160075471 160075540 0.2 [{'connected_gene': 'IGSF8', 'score': 11.38}, {'connected_gene': 'PIGM', 'score': 10.21}, {'connected_gene': 'KCNJ9', 'score': 0.77}, {'connected_gene': 'KCNJ10', 'score': 0.44}, {'connected_gene': 'ENSG00000225279', 'score': 0.39}]
chr1 GH01I160132 160132151 160132300 0.4 [{'connected_gene': 'IGSF8', 'score': 10.39}, {'connected_gene': 'NHLH1', 'score': 10.15}, {'connected_gene': 'KCNJ9', 'score': 9.82}, {'connected_gene': 'ATP1A2', 'score': 6.56}, {'connected_gene': 'GC01M160128', 'score': 0.77}, {'connected_gene': 'ATP1A4', 'score': 0.37}]
chr1 GH01I160095 160095441 160103654 2.65 [{'connected_gene': 'IGSF8', 'score': 561.74}, {'connected_gene': 'ATP1A4', 'score': 15.64}, {'connected_gene': 'CASQ1', 'score': 11.06}, {'connected_gene': 'KCNJ10', 'score': 11.02}, {'connected_gene': 'PEA15', 'score': 10.44}, {'connected_gene': 'DCAF8', 'score': 10.43}, {'connected_gene': 'PEX19', 'score': 10.42}, {'connected_gene': 'PIGM', 'score': 9.93}, {'connected_gene': 'ENSG00000225279', 'score': 9.74}, {'connected_gene': 'ATP1A2', 'score': 2.2}, {'connected_gene': 'KCNJ9', 'score': 1.98}]
chr1 GH01I160108 160108791 160110022 1.24 [{'connected_gene': 'IGSF8', 'score': 6.2}, {'connected_gene': 'VSIG8', 'score': 4.31}, {'connected_gene': 'ATP1A2', 'score': 0.44}]
chr1 GH01I160094 160094311 160094460 0.72 [{'connected_gene': 'IGSF8', 'score': 0.77}, {'connected_gene': 'KCNJ9', 'score': 0.39}]
chr1 GH01I160083 160083607 160085126 1.11 [{'connected_gene': 'PIGM', 'score': 10.43}, {'connected_gene': 'ATP1A2', 'score': 10.31}, {'connected_gene': 'ATP1A4', 'score': 8.33}, {'connected_gene': 'KCNJ9', 'score': 0.77}, {'connected_gene': 'IGSF8', 'score': 0.39}]
chr1 GH01I160203 160203962 160211585 2.19 [{'connected_gene': 'PEA15', 'score': 550.77}, {'connected_gene': 'LOC729867', 'score': 550.77}, {'connected_gene': 'NCSTN', 'score': 22.64}, {'connected_gene': 'LOC100287049', 'score': 10.96}, {'connected_gene': 'DCAF8', 'score': 10.96}, {'connected_gene': 'IGSF8', 'score': 10.52}, {'connected_gene': 'PIGM', 'score': 9.1}, {'connected_gene': 'COPA', 'score': 8.45}]
chr1 GH01I160250 160250630 160252660 0.94 [{'connected_gene': 'CASQ1', 'score': 11.35}, {'connected_gene': 'PEA15', 'score': 10.92}, {'connected_gene': 'ATP1A2', 'score': 10.6}, {'connected_gene': 'IGSF8', 'score': 10.56}, {'connected_gene': 'DCAF8', 'score': 0.39}, {'connected_gene': 'GC01P160261', 'score': 0.39}, {'connected_gene': 'ENSG00000258465', 'score': 0.29}, {'connected_gene': 'PIR40871', 'score': 0.28}]
chr1 GH01I160156 160156050 160157141 0.4 [{'connected_gene': 'CASQ1', 'score': 12.15}, {'connected_gene': 'ATP1A2', 'score': 11.64}, {'connected_gene': 'PEA15', 'score': 10.76}, {'connected_gene': 'IGSF8', 'score': 10.52}, {'connected_gene': 'PIGM', 'score': 8.81}, {'connected_gene': 'ATP1A4', 'score': 6.63}, {'connected_gene': 'GC01P160171', 'score': 0.37}]
chr1 GH01I160157 160157769 160158819 0.69 [{'connected_gene': 'CASQ1', 'score': 12.15}, {'connected_gene': 'ATP1A2', 'score': 11.64}, {'connected_gene': 'PEA15', 'score': 10.76}, {'connected_gene': 'IGSF8', 'score': 10.52}, {'connected_gene': 'PIGM', 'score': 8.81}, {'connected_gene': 'ATP1A4', 'score': 5.67}, {'connected_gene': 'GC01P160171', 'score': 0.39}]
chr1 GH01I160402 160402601 160402800 0.31 [{'connected_gene': 'SLAMF1', 'score': 9.77}, {'connected_gene': 'IGSF8', 'score': 9.57}, {'connected_gene': 'VANGL2', 'score': 0.77}, {'connected_gene': 'LOC105371466', 'score': 0.44}]
chr1 GH01I160120 160120063 160121734 0.31 [{'connected_gene': 'ATP1A4', 'score': 26.46}, {'connected_gene': 'IGSF8', 'score': 5.7}, {'connected_gene': 'GC01P160126', 'score': 0.77}, {'connected_gene': 'GC01P160125', 'score': 0.77}, {'connected_gene': 'ATP1A2', 'score': 0.44}]
chr1 GH01I160139 160139335 160142648 0.31 [{'connected_gene': 'ATP1A4', 'score': 19.17}, {'connected_gene': 'CASQ1', 'score': 17.25}, {'connected_gene': 'ATP1A2', 'score': 11.87}, {'connected_gene': 'DCAF8', 'score': 10.87}, {'connected_gene': 'IGSF8', 'score': 10.64}, {'connected_gene': 'LOC100287049', 'score': 10.39}, {'connected_gene': 'KCNJ10', 'score': 9.87}, {'connected_gene': 'PIGM', 'score': 9.74}, {'connected_gene': 'PEA15', 'score': 6.12}, {'connected_gene': 'GC01M160128', 'score': 0.39}]
chr1 GH01I160136 160136592 160138441 0.2 [{'connected_gene': 'ATP1A4', 'score': 32.77}, {'connected_gene': 'CASQ1', 'score': 17.53}, {'connected_gene': 'ATP1A2', 'score': 12.72}, {'connected_gene': 'KCNJ9', 'score': 11.06}, {'connected_gene': 'IGSF8', 'score': 10.65}, {'connected_gene': 'PIGM', 'score': 9.74}, {'connected_gene': 'SLAMF1', 'score': 9.02}, {'connected_gene': 'ENSG00000212161', 'score': 8.72}, {'connected_gene': 'GC01M160128', 'score': 0.44}]
chr1 GH01I160111 160111917 160118660 1.63 [{'connected_gene': 'ATP1A2', 'score': 560.0}, {'connected_gene': 'ATP1A4', 'score': 8.92}, {'connected_gene': 'IGSF8', 'score': 7.33}, {'connected_gene': 'KCNJ10', 'score': 4.75}, {'connected_gene': 'KCNJ9', 'score': 4.46}, {'connected_gene': 'PEA15', 'score': 2.38}]
chr1 GH01I160085 160085731 160087163 1.23 [{'connected_gene': 'ATP1A2', 'score': 15.59}, {'connected_gene': 'KCNJ9', 'score': 15.36}, {'connected_gene': 'PIGM', 'score': 10.43}, {'connected_gene': 'IGSF8', 'score': 8.21}, {'connected_gene': 'ATP1A4', 'score': 8.2}, {'connected_gene': 'KCNJ10', 'score': 4.63}, {'connected_gene': 'PEA15', 'score': 2.29}]
chr1 GH01I160314 160314732 160316129 0.49 [{'connected_gene': 'SUMO1P3', 'score': 550.77}, {'connected_gene': 'NCSTN', 'score': 36.41}, {'connected_gene': 'COPA', 'score': 11.33}, {'connected_gene': 'DCAF8', 'score': 11.09}, {'connected_gene': 'LOC100287049', 'score': 10.91}, {'connected_gene': 'IGSF8', 'score': 10.49}, {'connected_gene': 'NHLH1', 'score': 0.31}]
chr1 GH01I160070 160070071 160070856 1.95 [{'connected_gene': 'KCNJ10', 'score': 550.77}, {'connected_gene': 'IGSF8', 'score': 7.5}, {'connected_gene': 'ENSG00000225279', 'score': 0.44}]
chr1 GH01I160046 160046210 160047400 1.4 [{'connected_gene': 'KCNJ9', 'score': 11.29}, {'connected_gene': 'IGSF8', 'score': 10.42}, {'connected_gene': 'ENSG00000260766', 'score': 7.6}, {'connected_gene': 'PIGM', 'score': 0.39}, {'connected_gene': 'ENSG00000225279', 'score': 0.37}, {'connected_gene': 'KCNJ10', 'score': 0.34}]
chr1 GH01I160081 160081489 160081548 0.99 [{'connected_gene': 'KCNJ9', 'score': 550.77}, {'connected_gene': 'IGSF8', 'score': 0.37}]
chr1 GH01I160104 160104001 160105312 0.78 [{'connected_gene': 'KCNJ9', 'score': 11.31}, {'connected_gene': 'CASQ1', 'score': 11.07}, {'connected_gene': 'PEA15', 'score': 10.44}, {'connected_gene': 'DCAF8', 'score': 10.44}, {'connected_gene': 'PEX19', 'score': 10.43}, {'connected_gene': 'PIGM', 'score': 9.92}, {'connected_gene': 'ATP1A4', 'score': 9.82}, {'connected_gene': 'ENSG00000225279', 'score': 9.72}, {'connected_gene': 'KCNJ10', 'score': 9.61}, {'connected_gene': 'IGSF8', 'score': 7.84}, {'connected_gene': 'ATP1A2', 'score': 0.39}]
chr1 GH01I160346 160346001 160347800 1.08 [{'connected_gene': 'NCSTN', 'score': 34.96}, {'connected_gene': 'IGSF8', 'score': 9.78}, {'connected_gene': 'COPA', 'score': 6.37}, {'connected_gene': 'TAGLN2', 'score': 2.52}, {'connected_gene': 'CD48', 'score': 2.14}, {'connected_gene': 'SLAMF7', 'score': 1.57}, {'connected_gene': 'GC01P160354', 'score': 0.44}, {'connected_gene': 'NHLH1', 'score': 0.21}]
chr1 GH01I160255 160255755 160256620 0.43 [{'connected_gene': 'NCSTN', 'score': 21.49}, {'connected_gene': 'CASQ1', 'score': 11.26}, {'connected_gene': 'PEA15', 'score': 10.9}, {'connected_gene': 'ATP1A2', 'score': 10.59}, {'connected_gene': 'IGSF8', 'score': 10.56}, {'connected_gene': 'DCAF8', 'score': 0.44}, {'connected_gene': 'GC01P160261', 'score': 0.44}, {'connected_gene': 'ENSG00000258465', 'score': 0.31}, {'connected_gene': 'PIR40871', 'score': 0.26}]
chr1 GH01I160254 160254853 160255710 0.2 [{'connected_gene': 'NCSTN', 'score': 29.37}, {'connected_gene': 'CASQ1', 'score': 11.27}, {'connected_gene': 'PEA15', 'score': 10.92}, {'connected_gene': 'ATP1A2', 'score': 10.6}, {'connected_gene': 'IGSF8', 'score': 10.56}, {'connected_gene': 'DCAF8', 'score': 0.44}, {'connected_gene': 'GC01P160261', 'score': 0.44}, {'connected_gene': 'ENSG00000258465', 'score': 0.31}, {'connected_gene': 'PIR40871', 'score': 0.26}]
chr1 GH01I160216 160216817 160220104 0.79 [{'connected_gene': 'NCSTN', 'score': 21.81}, {'connected_gene': 'CASQ1', 'score': 11.87}, {'connected_gene': 'DCAF8', 'score': 11.53}, {'connected_gene': 'PEX19', 'score': 11.47}, {'connected_gene': 'ATP1A2', 'score': 11.15}, {'connected_gene': 'NHLH1', 'score': 10.52}, {'connected_gene': 'IGSF8', 'score': 10.46}, {'connected_gene': 'PIR40871', 'score': 0.77}, {'connected_gene': 'GC01P160261', 'score': 0.26}, {'connected_gene': 'ENSG00000258465', 'score': 0.2}]
chr1 GH01I160291 160291174 160292893 0.9 [{'connected_gene': 'NCSTN', 'score': 35.25}, {'connected_gene': 'CASQ1', 'score': 11.18}, {'connected_gene': 'COPA', 'score': 10.79}, {'connected_gene': 'IGSF8', 'score': 10.51}, {'connected_gene': 'KCNJ9', 'score': 10.17}, {'connected_gene': 'RNU4-42P', 'score': 9.89}, {'connected_gene': 'NHLH1', 'score': 0.44}, {'connected_gene': 'SUMO1P3', 'score': 0.31}]
chr1 GH01I160331 160331921 160333166 0.52 [{'connected_gene': 'NCSTN', 'score': 25.24}, {'connected_gene': 'NHLH1', 'score': 11.15}, {'connected_gene': 'PEA15', 'score': 10.28}, {'connected_gene': 'RNU4-42P', 'score': 10.15}, {'connected_gene': 'IGSF8', 'score': 9.54}, {'connected_gene': 'GC01M160326', 'score': 0.44}, {'connected_gene': 'ENSG00000202078', 'score': 0.44}, {'connected_gene': 'COPA', 'score': 0.39}]
chr1 GH01I160123 160123023 160129819 1.3 [{'connected_gene': 'GC01P160126', 'score': 550.77}, {'connected_gene': 'GC01P160125', 'score': 550.77}, {'connected_gene': 'ATP1A4', 'score': 61.58}, {'connected_gene': 'IGSF8', 'score': 15.94}, {'connected_gene': 'PEA15', 'score': 15.62}, {'connected_gene': 'CASQ1', 'score': 11.14}, {'connected_gene': 'KCNJ9', 'score': 10.25}, {'connected_gene': 'PIGM', 'score': 9.42}, {'connected_gene': 'ATP1A2', 'score': 7.23}, {'connected_gene': 'GC01M160128', 'score': 0.77}]
chr1 GH01I160324 160324357 160331793 0.59 [{'connected_gene': 'GC01M160326', 'score': 550.77}, {'connected_gene': 'ENSG00000202078', 'score': 550.77}, {'connected_gene': 'NCSTN', 'score': 34.49}, {'connected_gene': 'COPA', 'score': 16.96}, {'connected_gene': 'USP21', 'score': 13.47}, {'connected_gene': 'B4GALT3', 'score': 11.89}, {'connected_gene': 'PEX19', 'score': 11.28}, {'connected_gene': 'NHLH1', 'score': 11.25}, {'connected_gene': 'DCAF8', 'score': 11.16}, {'connected_gene': 'CASQ1', 'score': 11.01}, {'connected_gene': 'PPOX', 'score': 10.81}, {'connected_gene': 'PEA15', 'score': 10.54}, {'connected_gene': 'IGSF8', 'score': 10.33}, {'connected_gene': 'RNU4-42P', 'score': 10.28}, {'connected_gene': 'DEDD', 'score': 9.86}]

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