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
ENST00000265198 [[154475743, 154481175], [154489054, 154489248], [154520801, 154521174], [154533903, 154533989], [154535351, 154535410], [154542390, 154542462], [154544303, 154544377], [154567724, 154567894], [154568582, 154568619], [154587045, 154587098], [154610846, 154610890], [154677805, 154677900]] [[154480962, 154481175], [154489054, 154489248], [154520801, 154521174], [154533903, 154533989], [154535351, 154535410], [154542390, 154542462], [154544303, 154544377], [154567724, 154567894], [154568582, 154568619], [154587045, 154587081]]
ENST00000422970 [[154479208, 154481175], [154489054, 154489248], [154520801, 154521174], [154533903, 154533989], [154535351, 154535410], [154542390, 154542462], [154544303, 154544377], [154567724, 154567894], [154568582, 154568622], [154587045, 154587098], [154610846, 154610890], [154627828, 154627902], [154651154, 154651215]] [[154480962, 154481175], [154489054, 154489248], [154520801, 154521174], [154533903, 154533989], [154535351, 154535410], [154542390, 154542462], [154544303, 154544377], [154567724, 154567894], [154568582, 154568622], [154587045, 154587081]]
ENST00000522590 [[154480058, 154481175], [154489054, 154489248], [154520801, 154521174], [154533903, 154534464]] None
ENST00000367220 [[154480746, 154481175], [154489054, 154489248], [154520801, 154521174], [154533903, 154533989], [154535351, 154535410], [154542390, 154542462], [154544303, 154544377], [154567724, 154567894], [154568582, 154568622], [154587045, 154587098], [154610846, 154610890], [154677805, 154677869]] [[154480962, 154481175], [154489054, 154489248], [154520801, 154521174], [154533903, 154533989], [154535351, 154535410], [154542390, 154542462], [154544303, 154544377], [154567724, 154567894], [154568582, 154568622], [154587045, 154587081]]
ENST00000519344 [[154480816, 154481175], [154489054, 154489248], [154520801, 154521174], [154533903, 154533989], [154535351, 154535410], [154542390, 154542462], [154544303, 154544377], [154567724, 154567894], [154568582, 154568816]] [[154480962, 154481175], [154489054, 154489248], [154520801, 154521174], [154533903, 154533989], [154535351, 154535410], [154542390, 154542462], [154544303, 154544377], [154567724, 154567883]]
ENST00000519091 [[154520856, 154521174], [154533903, 154533989], [154535351, 154535410], [154540179, 154540323]] None
ENST00000484827 [[154520962, 154521174], [154533903, 154533989], [154535351, 154535447]] None
ENST00000517438 [[154521151, 154521174], [154533903, 154533989], [154535351, 154535410], [154542390, 154542462], [154544303, 154544377], [154567724, 154567990]] [[154521151, 154521174], [154533903, 154533989], [154535351, 154535410], [154542390, 154542462], [154544303, 154544377], [154567724, 154567883]]
ENST00000520261 [[154567732, 154567894], [154568582, 154568619], [154587045, 154587098], [154610846, 154610890], [154627828, 154627896], [154677805, 154677926]] [[154567732, 154567894], [154568582, 154568619], [154587045, 154587081]]
ENST00000470622 [[154475630, 154475787], [154480310, 154480651]] None
ENST00000519405 [[154533968, 154533989], [154535351, 154535410], [154542390, 154542462], [154544303, 154544377], [154567724, 154567894], [154568203, 154568365]] [[154533968, 154533989], [154535351, 154535410], [154542390, 154542462], [154544303, 154544377], [154567724, 154567883]]
ENST00000519190 [[154535390, 154535410], [154542390, 154542462], [154544303, 154544377], [154567724, 154567894], [154568324, 154568556]] [[154535390, 154535410], [154542390, 154542462], [154544303, 154544377], [154567724, 154567883]]
ENST00000518162 [[154544094, 154544377], [154567724, 154567894], [154568582, 154568714]] None
NM_001130699 [[154475617, 154481175], [154489054, 154489248], [154520801, 154521174], [154533903, 154533989], [154535351, 154535410], [154542390, 154542462], [154544303, 154544377], [154567724, 154567894], [154568582, 154568622], [154587045, 154587098], [154610846, 154610890], [154627828, 154627902], [154651154, 154651215]] [[154480962, 154481175], [154489054, 154489248], [154520801, 154521174], [154533903, 154533989], [154535351, 154535410], [154542390, 154542462], [154544303, 154544377], [154567724, 154567894], [154568582, 154568622], [154587045, 154587081]]
NM_001130700 [[154475617, 154481175], [154489054, 154489248], [154520801, 154521174], [154533903, 154533989], [154535351, 154535410], [154542390, 154542462], [154544303, 154544377], [154567724, 154567894], [154568582, 154568622], [154587045, 154587098], [154610846, 154610890], [154677805, 154677900]] [[154480962, 154481175], [154489054, 154489248], [154520801, 154521174], [154533903, 154533989], [154535351, 154535410], [154542390, 154542462], [154544303, 154544377], [154567724, 154567894], [154568582, 154568622], [154587045, 154587081]]
NM_015553 [[154475617, 154481175], [154489054, 154489248], [154520801, 154521174], [154533903, 154533989], [154535351, 154535410], [154542390, 154542462], [154544303, 154544377], [154567724, 154567894], [154568582, 154568619], [154587045, 154587098], [154610846, 154610890], [154677805, 154677900]] [[154480962, 154481175], [154489054, 154489248], [154520801, 154521174], [154533903, 154533989], [154535351, 154535410], [154542390, 154542462], [154544303, 154544377], [154567724, 154567894], [154568582, 154568619], [154587045, 154587081]]
Promoter
Chrom Start End Description
chr6 154567877 154567903 CAGE_peak_8_at_IPCEF1_5end
chr6 154567956 154567970 CAGE_peak_12_at_IPCEF1_5end
chr6 154567984 154568002 CAGE_peak_7_at_IPCEF1_5end
chr6 154568551 154568570 CAGE_peak_10_at_IPCEF1_5end
chr6 154568632 154568656 CAGE_peak_2_at_IPCEF1_5end
chr6 154568673 154568692 CAGE_peak_3_at_IPCEF1_5end
chr6 154568722 154568735 CAGE_peak_4_at_IPCEF1_5end
chr6 154568764 154568814 CAGE_peak_1_at_IPCEF1_5end
chr6 154568815 154568826 CAGE_peak_6_at_IPCEF1_5end
chr6 154677866 154677872 CAGE_peak_11_at_IPCEF1_5end
chr6 154677908 154677944 CAGE_peak_5_at_IPCEF1_5end
chr6 154677950 154677966 CAGE_peak_9_at_IPCEF1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I154163 154163986 154166400 1.02 [{'connected_gene': 'IPCEF1', 'score': 11.03}, {'connected_gene': 'GC06P154143', 'score': 0.34}, {'connected_gene': 'GC06M154143', 'score': 0.25}, {'connected_gene': 'OPRM1', 'score': 0.1}]
chr6 GH06I154154 154154506 154154655 0.65 [{'connected_gene': 'IPCEF1', 'score': 11.84}, {'connected_gene': 'GC06P154143', 'score': 0.39}, {'connected_gene': 'GC06M154143', 'score': 0.22}, {'connected_gene': 'OPRM1', 'score': 0.11}]
chr6 GH06I154155 154155706 154158421 0.89 [{'connected_gene': 'IPCEF1', 'score': 11.84}, {'connected_gene': 'GC06P154143', 'score': 0.39}, {'connected_gene': 'GC06M154143', 'score': 0.22}, {'connected_gene': 'OPRM1', 'score': 0.11}]
chr6 GH06I154386 154386812 154388387 1.04 [{'connected_gene': 'IPCEF1', 'score': 11.63}, {'connected_gene': 'SCAF8', 'score': 10.58}, {'connected_gene': 'LOC105378067', 'score': 0.34}, {'connected_gene': 'LOC101928868', 'score': 0.13}, {'connected_gene': 'CNKSR3', 'score': 0.13}]
chr6 GH06I154256 154256817 154258800 1.17 [{'connected_gene': 'IPCEF1', 'score': 11.28}, {'connected_gene': 'SCAF8', 'score': 1.43}, {'connected_gene': 'GC06P154217', 'score': 0.26}]
chr6 GH06I154432 154432215 154434278 1.38 [{'connected_gene': 'IPCEF1', 'score': 8.49}, {'connected_gene': 'CNKSR3', 'score': 2.7}, {'connected_gene': 'LOC105378067', 'score': 0.19}, {'connected_gene': 'LOC101928868', 'score': 0.18}]
chr6 GH06I154409 154409255 154412595 1.01 [{'connected_gene': 'IPCEF1', 'score': 19.93}, {'connected_gene': 'CNKSR3', 'score': 4.59}, {'connected_gene': 'LOC105378067', 'score': 0.25}, {'connected_gene': 'LOC101928868', 'score': 0.15}]
chr6 GH06I154414 154414151 154415065 0.81 [{'connected_gene': 'IPCEF1', 'score': 12.16}, {'connected_gene': 'LOC105378067', 'score': 0.23}, {'connected_gene': 'LOC101928868', 'score': 0.15}, {'connected_gene': 'CNKSR3', 'score': 0.15}]
chr6 GH06I154398 154398787 154399836 0.31 [{'connected_gene': 'IPCEF1', 'score': 18.92}, {'connected_gene': 'LOC105378067', 'score': 0.28}, {'connected_gene': 'LOC101928868', 'score': 0.14}, {'connected_gene': 'CNKSR3', 'score': 0.14}]
chr6 GH06I154297 154297601 154298950 1.13 [{'connected_gene': 'IPCEF1', 'score': 12.03}, {'connected_gene': 'GC06P154217', 'score': 0.18}]
chr6 GH06I154350 154350197 154352012 0.31 [{'connected_gene': 'IPCEF1', 'score': 0.44}, {'connected_gene': 'GC06P154217', 'score': 0.12}]
chr6 GH06I154344 154341407 154341556 0.4 [{'connected_gene': 'IPCEF1', 'score': 0.37}, {'connected_gene': 'GC06P154217', 'score': 0.13}]
chr6 GH06I154331 154331434 154333391 0.49 [{'connected_gene': 'IPCEF1', 'score': 17.29}, {'connected_gene': 'GC06P154217', 'score': 0.13}]
chr6 GH06I154267 154267827 154267976 0.81 [{'connected_gene': 'IPCEF1', 'score': 550.17}, {'connected_gene': 'GC06P154217', 'score': 0.23}]
chr6 GH06I154303 154303601 154304242 0.89 [{'connected_gene': 'IPCEF1', 'score': 12.04}, {'connected_gene': 'GC06P154217', 'score': 0.17}]
chr6 GH06I154341 154341987 154342156 0.4 [{'connected_gene': 'IPCEF1', 'score': 0.39}, {'connected_gene': 'GC06P154217', 'score': 0.13}]
chr6 GH06I154352 154352891 154357400 1.79 [{'connected_gene': 'IPCEF1', 'score': 550.77}, {'connected_gene': 'GC06P154217', 'score': 0.12}]
chr6 GH06I154322 154322675 154323567 0.2 [{'connected_gene': 'IPCEF1', 'score': 0.29}, {'connected_gene': 'GC06P154217', 'score': 0.14}]
chr6 GH06I154320 154320327 154320476 0.4 [{'connected_gene': 'IPCEF1', 'score': 11.45}, {'connected_gene': 'GC06P154217', 'score': 0.15}]
chr6 GH06I154277 154277002 154278000 0.86 [{'connected_gene': 'IPCEF1', 'score': 11.77}, {'connected_gene': 'GC06P154217', 'score': 0.21}]
chr6 GH06I154336 154336194 154339377 0.38 [{'connected_gene': 'IPCEF1', 'score': 5.82}, {'connected_gene': 'GC06P154217', 'score': 0.13}]
chr6 GH06I154343 154343431 154344786 1.44 [{'connected_gene': 'IPCEF1', 'score': 5.68}, {'connected_gene': 'GC06P154217', 'score': 0.13}]
chr6 GH06I154342 154342478 154343141 0.4 [{'connected_gene': 'IPCEF1', 'score': 0.39}, {'connected_gene': 'GC06P154217', 'score': 0.13}]
chr6 GH06I154333 154333729 154335246 0.31 [{'connected_gene': 'IPCEF1', 'score': 17.02}, {'connected_gene': 'GC06P154217', 'score': 0.13}]
chr6 GH06I154308 154308455 154309873 0.38 [{'connected_gene': 'IPCEF1', 'score': 11.02}, {'connected_gene': 'GC06P154217', 'score': 0.16}]
chr6 GH06I154291 154291896 154294128 1.07 [{'connected_gene': 'IPCEF1', 'score': 8.55}, {'connected_gene': 'GC06P154217', 'score': 0.18}]
chr6 GH06I154317 154317241 154320080 0.97 [{'connected_gene': 'IPCEF1', 'score': 16.9}, {'connected_gene': 'GC06P154217', 'score': 0.15}]
chr6 GH06I154301 154301194 154302967 1.21 [{'connected_gene': 'IPCEF1', 'score': 12.04}, {'connected_gene': 'GC06P154217', 'score': 0.17}]
chr6 GH06I154329 154329463 154331243 0.43 [{'connected_gene': 'IPCEF1', 'score': 17.26}, {'connected_gene': 'GC06P154217', 'score': 0.14}]
chr6 GH06I154537 154536732 154539537 1.26 [{'connected_gene': 'CNKSR3', 'score': 50.02}, {'connected_gene': 'IPCEF1', 'score': 10.2}, {'connected_gene': 'ENSG00000275419', 'score': 0.77}]
chr6 GH06I154346 154346498 154348961 0.38 [{'connected_gene': 'CNKSR3', 'score': 5.23}, {'connected_gene': 'IPCEF1', 'score': 0.44}, {'connected_gene': 'GC06P154217', 'score': 0.12}]
chr6 GH06I154243 154243249 154251096 2.02 [{'connected_gene': 'CNKSR3', 'score': 4.29}, {'connected_gene': 'SCAF8', 'score': 2.72}, {'connected_gene': 'GC06P154217', 'score': 0.29}, {'connected_gene': 'IPCEF1', 'score': 0.14}, {'connected_gene': 'OPRM1', 'score': 0.07}]
chr6 GH06I154359 154359001 154359896 0.96 [{'connected_gene': 'LOC105378067', 'score': 0.77}, {'connected_gene': 'IPCEF1', 'score': 0.77}]
chr6 GH06I154547 154547988 154548967 1.29 [{'connected_gene': 'LOC100129996', 'score': 550.77}, {'connected_gene': 'SCAF8', 'score': 21.77}, {'connected_gene': 'CNKSR3', 'score': 11.98}, {'connected_gene': 'IPCEF1', 'score': 10.38}, {'connected_gene': 'ENSG00000275419', 'score': 0.44}]
chr6 GH06I154241 154241333 154242406 0.2 [{'connected_gene': 'GC06P154217', 'score': 0.34}, {'connected_gene': 'IPCEF1', 'score': 0.14}, {'connected_gene': 'OPRM1', 'score': 0.07}]
chr6 GH06I154229 154229407 154232833 1.27 [{'connected_gene': 'GC06P154217', 'score': 0.39}, {'connected_gene': 'IPCEF1', 'score': 0.13}, {'connected_gene': 'OPRM1', 'score': 0.07}]
chr6 GH06I154218 154218787 154219601 0.4 [{'connected_gene': 'GC06P154217', 'score': 0.77}, {'connected_gene': 'IPCEF1', 'score': 0.12}, {'connected_gene': 'OPRM1', 'score': 0.08}]
chr6 GH06I154221 154221990 154225080 0.2 [{'connected_gene': 'GC06P154217', 'score': 0.44}, {'connected_gene': 'IPCEF1', 'score': 0.12}, {'connected_gene': 'OPRM1', 'score': 0.08}]
chr6 GH06I154204 154204422 154204745 0.33 [{'connected_gene': 'GC06M154143', 'score': 0.44}, {'connected_gene': 'GC06P154143', 'score': 0.21}, {'connected_gene': 'IPCEF1', 'score': 0.1}, {'connected_gene': 'OPRM1', 'score': 0.08}]
chr6 GH06I154239 154239427 154239576 0.72 [{'connected_gene': 'GC06P154217', 'score': 0.34}, {'connected_gene': 'IPCEF1', 'score': 0.13}, {'connected_gene': 'OPRM1', 'score': 0.07}]
chr6 GH06I154233 154233188 154234895 1.04 [{'connected_gene': 'GC06P154217', 'score': 0.37}, {'connected_gene': 'IPCEF1', 'score': 0.13}, {'connected_gene': 'OPRM1', 'score': 0.07}]
chr6 GH06I154197 154197220 154197814 0.2 [{'connected_gene': 'GC06M154143', 'score': 0.37}, {'connected_gene': 'GC06P154143', 'score': 0.23}, {'connected_gene': 'IPCEF1', 'score': 0.1}, {'connected_gene': 'OPRM1', 'score': 0.09}]

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