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
ENST00000296792 [[72861565, 72861737], [72863086, 72863259], [72864059, 72864152], [72864244, 72864429], [72865321, 72865500], [72866410, 72866536], [72868313, 72868449], [72872776, 72872861], [72873680, 72873830], [72874575, 72874677], [72874841, 72874975], [72875141, 72875200], [72875701, 72877794]] [[72863169, 72863259], [72864059, 72864152], [72864244, 72864429], [72865321, 72865500], [72866410, 72866536], [72868313, 72868449], [72872776, 72872861], [72873680, 72873830], [72874575, 72874677], [72874841, 72874975], [72875141, 72875200], [72875701, 72875919]]
ENST00000509005 [[72861567, 72861737], [72864059, 72864152], [72864244, 72864429], [72865321, 72865500], [72866410, 72866536], [72868313, 72868449], [72872776, 72872861], [72873680, 72873830], [72874575, 72874677], [72874841, 72874975], [72875141, 72875200], [72875701, 72876339]] [[72861567, 72861737], [72864059, 72864152], [72864244, 72864429], [72865321, 72865500], [72866410, 72866536], [72868313, 72868449], [72872776, 72872861], [72873680, 72873830], [72874575, 72874677], [72874841, 72874975], [72875141, 72875200], [72875701, 72875919]]
ENST00000543251 [[72861567, 72861737], [72864059, 72864152], [72864244, 72864429], [72865321, 72865500], [72866410, 72866536], [72868313, 72868449], [72872776, 72872861], [72873680, 72873830], [72874575, 72874677], [72874841, 72874975], [72875141, 72875200], [72875701, 72876339]] [[72866433, 72866536], [72868313, 72868449], [72872776, 72872861], [72873680, 72873830], [72874575, 72874677], [72874841, 72874975], [72875141, 72875200], [72875701, 72875919]]
ENST00000513824 [[72861267, 72861565], [72863086, 72863259], [72864059, 72864152], [72864244, 72864257]] [[72863169, 72863259], [72864059, 72864152], [72864244, 72864257]]
ENST00000510478 [[72861567, 72861737], [72863086, 72863502]] None
ENST00000508686 [[72861578, 72862011], [72863086, 72863191]] [[72863169, 72863191]]
ENST00000508491 [[72861597, 72861737], [72863086, 72863259], [72864116, 72864152], [72864244, 72864429], [72865321, 72865500], [72866410, 72866536], [72868313, 72868449], [72872776, 72872861], [72873680, 72873830], [72874575, 72874677], [72874841, 72874975], [72875141, 72875200], [72875701, 72876024]] [[72863169, 72863259], [72864116, 72864152], [72864244, 72864429], [72865321, 72865500], [72866410, 72866536], [72868313, 72868449], [72872776, 72872861], [72873680, 72873830], [72874575, 72874677], [72874841, 72874975], [72875141, 72875200], [72875701, 72875919]]
ENST00000512550 [[72868313, 72868449], [72872776, 72872861], [72873680, 72874241]] None
NM_001284431 [[72861565, 72861737], [72864059, 72864152], [72864244, 72864429], [72865321, 72865500], [72866410, 72866536], [72868313, 72868449], [72872776, 72872861], [72873680, 72873830], [72874575, 72874677], [72874841, 72874975], [72875141, 72875200], [72875701, 72879202]] [[72866433, 72866536], [72868313, 72868449], [72872776, 72872861], [72873680, 72873830], [72874575, 72874677], [72874841, 72874975], [72875141, 72875200], [72875701, 72875919]]
NM_001284430 [[72861565, 72861737], [72863086, 72863259], [72864116, 72864152], [72864244, 72864429], [72865321, 72865500], [72866410, 72866536], [72868313, 72868449], [72872776, 72872861], [72873680, 72873830], [72874575, 72874677], [72874841, 72874975], [72875141, 72875200], [72875701, 72879202]] [[72863169, 72863259], [72864116, 72864152], [72864244, 72864429], [72865321, 72865500], [72866410, 72866536], [72868313, 72868449], [72872776, 72872861], [72873680, 72873830], [72874575, 72874677], [72874841, 72874975], [72875141, 72875200], [72875701, 72875919]]
NM_032175 [[72861565, 72861737], [72863086, 72863259], [72864059, 72864152], [72864244, 72864429], [72865321, 72865500], [72866410, 72866536], [72868313, 72868449], [72872776, 72872861], [72873680, 72873830], [72874575, 72874677], [72874841, 72874975], [72875141, 72875200], [72875701, 72879202]] [[72863169, 72863259], [72864059, 72864152], [72864244, 72864429], [72865321, 72865500], [72866410, 72866536], [72868313, 72868449], [72872776, 72872861], [72873680, 72873830], [72874575, 72874677], [72874841, 72874975], [72875141, 72875200], [72875701, 72875919]]
Promoter
Chrom Start End Description
chr5 72861560 72861605 CAGE_peak_1_at_UTP15_5end
chr5 72861618 72861635 CAGE_peak_2_at_UTP15_5end
chr5 72861636 72861648 CAGE_peak_3_at_UTP15_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I073563 73563987 73567159 2.05 [{'connected_gene': 'UTP15', 'score': 563.78}, {'connected_gene': 'ANKRA2', 'score': 556.6}, {'connected_gene': 'ARHGEF28', 'score': 9.59}]
chr5 GH05I073617 73617424 73618391 0.89 [{'connected_gene': 'UTP15', 'score': 10.36}, {'connected_gene': 'ANKRA2', 'score': 4.76}, {'connected_gene': 'ARHGEF28', 'score': 0.44}]
chr5 GH05I073541 73540606 73543293 0.98 [{'connected_gene': 'UTP15', 'score': 25.96}, {'connected_gene': 'ANKRA2', 'score': 12.81}, {'connected_gene': 'LINC01386', 'score': 10.61}, {'connected_gene': 'ARHGEF28', 'score': 7.59}, {'connected_gene': 'FUNDC2P1', 'score': 0.29}]
chr5 GH05I073544 73544011 73545695 0.92 [{'connected_gene': 'UTP15', 'score': 23.74}, {'connected_gene': 'ANKRA2', 'score': 18.23}, {'connected_gene': 'LINC01386', 'score': 10.6}, {'connected_gene': 'FUNDC2P1', 'score': 0.28}]
chr5 GH05I073540 73540276 73540465 0.38 [{'connected_gene': 'UTP15', 'score': 17.22}, {'connected_gene': 'ANKRA2', 'score': 12.78}, {'connected_gene': 'LINC01386', 'score': 10.61}, {'connected_gene': 'FUNDC2P1', 'score': 0.29}]
chr5 GH05I073795 73795478 73798146 1.31 [{'connected_gene': 'UTP15', 'score': 14.56}, {'connected_gene': 'FCHO2', 'score': 14.06}, {'connected_gene': 'ANKRA2', 'score': 13.9}, {'connected_gene': 'RNU7-196P', 'score': 12.0}, {'connected_gene': 'TNPO1', 'score': 11.9}, {'connected_gene': 'ARHGEF28', 'score': 4.22}, {'connected_gene': 'ENSG00000184084', 'score': 0.44}, {'connected_gene': 'LOC102725145', 'score': 0.44}]
chr5 GH05I073728 73728293 73729565 0.86 [{'connected_gene': 'UTP15', 'score': 9.87}, {'connected_gene': 'LOC102725145', 'score': 0.22}, {'connected_gene': 'ARHGEF28', 'score': 0.15}]
chr5 GH05I074239 74239959 74243236 1.09 [{'connected_gene': 'UTP15', 'score': 11.33}, {'connected_gene': 'LINC01335', 'score': 0.2}, {'connected_gene': 'LINC02122', 'score': 0.12}]
chr5 GH05I073623 73623536 73628400 2.4 [{'connected_gene': 'ARHGEF28', 'score': 562.08}, {'connected_gene': 'UTP15', 'score': 22.17}, {'connected_gene': 'ANKRA2', 'score': 16.04}, {'connected_gene': 'LOC102725145', 'score': 10.49}, {'connected_gene': 'TNPO1', 'score': 10.15}]
chr5 GH05I073685 73685283 73686663 0.43 [{'connected_gene': 'ARHGEF28', 'score': 19.6}, {'connected_gene': 'UTP15', 'score': 8.44}, {'connected_gene': 'ANKRA2', 'score': 4.37}, {'connected_gene': 'LOC102725145', 'score': 0.15}]
chr5 GH05I073550 73550156 73550305 0.2 [{'connected_gene': 'ARHGEF28', 'score': 8.09}, {'connected_gene': 'UTP15', 'score': 0.37}, {'connected_gene': 'FUNDC2P1', 'score': 0.26}]
chr5 GH05I073701 73701115 73702257 0.63 [{'connected_gene': 'ARHGEF28', 'score': 10.92}, {'connected_gene': 'UTP15', 'score': 5.15}, {'connected_gene': 'LOC102725145', 'score': 0.17}]
chr5 GH05I073672 73672021 73675336 1.09 [{'connected_gene': 'ARHGEF28', 'score': 9.85}, {'connected_gene': 'UTP15', 'score': 8.71}, {'connected_gene': 'LOC102725145', 'score': 0.14}]
chr5 GH05I073647 73647572 73650165 0.69 [{'connected_gene': 'ARHGEF28', 'score': 10.11}, {'connected_gene': 'UTP15', 'score': 9.16}, {'connected_gene': 'LOC102725145', 'score': 0.12}]
chr5 GH05I073690 73690576 73695779 1.05 [{'connected_gene': 'ARHGEF28', 'score': 25.22}, {'connected_gene': 'UTP15', 'score': 10.75}, {'connected_gene': 'LOC102725145', 'score': 0.16}]
chr5 GH05I073650 73650924 73656814 1.52 [{'connected_gene': 'ARHGEF28', 'score': 23.16}, {'connected_gene': 'RNU7-196P', 'score': 10.28}, {'connected_gene': 'LOC102725145', 'score': 10.19}, {'connected_gene': 'UTP15', 'score': 9.9}]
chr5 GH05I073604 73604856 73607119 1.01 [{'connected_gene': 'ARHGEF28', 'score': 11.99}, {'connected_gene': 'LOC102725145', 'score': 10.53}, {'connected_gene': 'UTP15', 'score': 8.23}, {'connected_gene': 'ANKRA2', 'score': 0.26}]
chr5 GH05I073614 73614824 73615813 0.63 [{'connected_gene': 'ARHGEF28', 'score': 10.52}, {'connected_gene': 'LOC102725145', 'score': 9.82}, {'connected_gene': 'UTP15', 'score': 7.55}, {'connected_gene': 'ANKRA2', 'score': 0.25}]
chr5 GH05I073635 73635976 73643168 1.45 [{'connected_gene': 'ARHGEF28', 'score': 14.82}, {'connected_gene': 'LOC102725145', 'score': 10.18}, {'connected_gene': 'UTP15', 'score': 8.15}]
chr5 GH05I073435 73435680 73438798 1.33 [{'connected_gene': 'ANKRA2', 'score': 15.96}, {'connected_gene': 'UTP15', 'score': 12.16}, {'connected_gene': 'TNPO1', 'score': 10.15}, {'connected_gene': 'BTF3', 'score': 8.5}, {'connected_gene': 'FOXD1-AS1', 'score': 0.44}, {'connected_gene': 'GC05P073385', 'score': 0.23}]
chr5 GH05I073029 73029624 73032773 1.13 [{'connected_gene': 'ANKRA2', 'score': 62.96}, {'connected_gene': 'ENSG00000271926', 'score': 12.06}, {'connected_gene': 'ENSG00000272525', 'score': 11.33}, {'connected_gene': 'UTP15', 'score': 11.32}, {'connected_gene': 'TMEM171', 'score': 10.86}, {'connected_gene': 'ENSG00000272081', 'score': 8.04}, {'connected_gene': 'FCHO2', 'score': 7.06}, {'connected_gene': 'LOC728549', 'score': 0.44}, {'connected_gene': 'GC05P073101', 'score': 0.2}]
chr5 GH05I074016 74016554 74018595 0.89 [{'connected_gene': 'ANKRA2', 'score': 14.15}, {'connected_gene': 'UTP15', 'score': 10.21}, {'connected_gene': 'LOC105379035', 'score': 0.34}, {'connected_gene': 'LOC105379034', 'score': 0.25}]
chr5 GH05I073536 73536916 73537065 0.69 [{'connected_gene': 'ANKRA2', 'score': 11.84}, {'connected_gene': 'UTP15', 'score': 11.84}, {'connected_gene': 'LINC01386', 'score': 10.96}, {'connected_gene': 'FUNDC2P1', 'score': 0.31}]
chr5 GH05I074337 74337178 74338437 0.46 [{'connected_gene': 'ANKRA2', 'score': 13.91}, {'connected_gene': 'UTP15', 'score': 10.48}, {'connected_gene': 'BTF3', 'score': 6.13}, {'connected_gene': 'LINC01332', 'score': 0.77}, {'connected_gene': 'ENSG00000251041', 'score': 0.37}, {'connected_gene': 'GC05M074433', 'score': 0.14}]
chr5 GH05I074250 74250208 74252501 1.14 [{'connected_gene': 'ANKRA2', 'score': 15.87}, {'connected_gene': 'UTP15', 'score': 10.11}, {'connected_gene': 'BTF3', 'score': 9.8}, {'connected_gene': 'LINC01335', 'score': 0.22}, {'connected_gene': 'LINC02122', 'score': 0.11}]
chr5 GH05I073592 73592096 73592245 0.76 [{'connected_gene': 'ANKRA2', 'score': 16.15}, {'connected_gene': 'ARHGEF28', 'score': 11.47}, {'connected_gene': 'LOC102725145', 'score': 11.2}, {'connected_gene': 'UTP15', 'score': 10.4}]
chr5 GH05I072586 72586727 72588620 1.19 [{'connected_gene': 'ANKRA2', 'score': 21.63}, {'connected_gene': 'TNPO1', 'score': 14.46}, {'connected_gene': 'UTP15', 'score': 13.18}, {'connected_gene': 'FCHO2', 'score': 12.55}, {'connected_gene': 'MAP1B', 'score': 4.81}, {'connected_gene': 'GC05M072590', 'score': 0.77}, {'connected_gene': 'GC05P072582', 'score': 0.44}, {'connected_gene': 'LINC02056', 'score': 0.19}]
chr5 GH05I073747 73747504 73750544 0.92 [{'connected_gene': 'ANKRA2', 'score': 16.75}, {'connected_gene': 'FCHO2', 'score': 13.26}, {'connected_gene': 'UTP15', 'score': 12.62}, {'connected_gene': 'TNPO1', 'score': 11.51}, {'connected_gene': 'BTF3', 'score': 9.77}, {'connected_gene': 'ARHGEF28', 'score': 7.52}, {'connected_gene': 'LOC102725145', 'score': 0.28}]
chr5 GH05I072846 72846630 72850697 2.29 [{'connected_gene': 'TNPO1', 'score': 572.46}, {'connected_gene': 'ENSG00000249085', 'score': 22.52}, {'connected_gene': 'FCHO2', 'score': 15.42}, {'connected_gene': 'UTP15', 'score': 14.07}, {'connected_gene': 'ANKRA2', 'score': 11.75}, {'connected_gene': 'RPL7P22', 'score': 10.74}, {'connected_gene': 'MRPS27', 'score': 10.19}, {'connected_gene': 'GC05P072869', 'score': 0.34}]
chr5 GH05I073201 73201601 73202454 1.04 [{'connected_gene': 'LOC340090', 'score': 550.77}, {'connected_gene': 'ANKRA2', 'score': 15.88}, {'connected_gene': 'UTP15', 'score': 12.08}, {'connected_gene': 'TMEM174', 'score': 11.87}, {'connected_gene': 'TMEM171', 'score': 10.66}, {'connected_gene': 'TNPO1', 'score': 10.18}, {'connected_gene': 'LINC01386', 'score': 9.94}, {'connected_gene': 'ENSG00000249743', 'score': 0.39}]
chr5 GH05I073508 73508600 73509000 0.31 [{'connected_gene': 'FUNDC2P1', 'score': 550.77}, {'connected_gene': 'LINC01386', 'score': 9.96}, {'connected_gene': 'UTP15', 'score': 0.22}]
chr5 GH05I073181 73181923 73184677 0.54 [{'connected_gene': 'TMEM171', 'score': 10.66}, {'connected_gene': 'UTP15', 'score': 5.11}, {'connected_gene': 'TMEM174', 'score': 0.39}, {'connected_gene': 'LOC340090', 'score': 0.37}]
chr5 GH05I073114 73114714 73121237 2 [{'connected_gene': 'TMEM171', 'score': 560.92}, {'connected_gene': 'ANKRA2', 'score': 15.88}, {'connected_gene': 'UTP15', 'score': 12.08}, {'connected_gene': 'TNPO1', 'score': 10.18}, {'connected_gene': 'ENSG00000249085', 'score': 7.44}, {'connected_gene': 'ARHGEF28', 'score': 5.81}, {'connected_gene': 'GC05M073090', 'score': 0.77}]
chr5 GH05I074314 74314669 74317678 1.31 [{'connected_gene': 'RN7SL814P', 'score': 550.77}, {'connected_gene': 'UTP15', 'score': 11.33}, {'connected_gene': 'LINC01333', 'score': 7.43}, {'connected_gene': 'ENSG00000272525', 'score': 4.85}, {'connected_gene': 'LINC01157', 'score': 0.44}, {'connected_gene': 'LINC01335', 'score': 0.44}]
chr5 GH05I073514 73514050 73516357 0.57 [{'connected_gene': 'LINC01386', 'score': 10.81}, {'connected_gene': 'BTF3', 'score': 6.99}, {'connected_gene': 'ENSG00000272525', 'score': 5.54}, {'connected_gene': 'FUNDC2P1', 'score': 0.44}, {'connected_gene': 'UTP15', 'score': 0.23}]
chr5 GH05I073495 73495575 73500671 2.08 [{'connected_gene': 'BTF3', 'score': 557.69}, {'connected_gene': 'ENSG00000272525', 'score': 556.4}, {'connected_gene': 'ANKRA2', 'score': 20.52}, {'connected_gene': 'UTP15', 'score': 10.61}, {'connected_gene': 'FCHO2', 'score': 10.22}, {'connected_gene': 'GC05M073449', 'score': 0.34}]
chr5 GH05I073519 73519401 73520200 1.08 [{'connected_gene': 'BTF3', 'score': 17.78}, {'connected_gene': 'ANKRA2', 'score': 4.32}, {'connected_gene': 'FUNDC2P1', 'score': 0.39}, {'connected_gene': 'UTP15', 'score': 0.25}]
chr5 GH05I073387 73387304 73388714 1.01 [{'connected_gene': 'BTF3', 'score': 15.86}, {'connected_gene': 'TNPO1', 'score': 14.28}, {'connected_gene': 'ANKRA2', 'score': 13.06}, {'connected_gene': 'FCHO2', 'score': 11.61}, {'connected_gene': 'UTP15', 'score': 10.48}, {'connected_gene': 'GC05P073385', 'score': 0.77}, {'connected_gene': 'ENSG00000249149', 'score': 0.44}, {'connected_gene': 'FOXD1-AS1', 'score': 0.22}]
chr5 GH05I073523 73523160 73523225 0.52 [{'connected_gene': 'BTF3', 'score': 11.14}, {'connected_gene': 'FUNDC2P1', 'score': 0.39}, {'connected_gene': 'UTP15', 'score': 0.26}]
chr5 GH05I073762 73762824 73766011 0.89 [{'connected_gene': 'LOC102725145', 'score': 11.67}, {'connected_gene': 'ARHGEF28', 'score': 6.26}, {'connected_gene': 'UTP15', 'score': 6.03}]
chr5 GH05I072815 72815021 72819690 2.05 [{'connected_gene': 'ENSG00000249085', 'score': 564.01}, {'connected_gene': 'GC05M072783', 'score': 550.77}, {'connected_gene': 'TNPO1', 'score': 550.77}, {'connected_gene': 'UTP15', 'score': 14.06}, {'connected_gene': 'FCHO2', 'score': 13.89}, {'connected_gene': 'ANKRA2', 'score': 11.75}, {'connected_gene': 'RPL7P22', 'score': 10.77}, {'connected_gene': 'MRPS27', 'score': 10.2}, {'connected_gene': 'ENSG00000272081', 'score': 6.17}, {'connected_gene': 'GC05P072869', 'score': 0.23}]
chr5 GH05I073443 73443117 73449437 2.14 [{'connected_gene': 'GC05M073447', 'score': 550.77}, {'connected_gene': 'FOXD1-AS1', 'score': 550.77}, {'connected_gene': 'FOXD1', 'score': 550.77}, {'connected_gene': 'GC05M073448', 'score': 550.77}, {'connected_gene': 'ANKRA2', 'score': 18.52}, {'connected_gene': 'UTP15', 'score': 12.16}, {'connected_gene': 'TNPO1', 'score': 10.15}, {'connected_gene': 'BTF3', 'score': 8.53}, {'connected_gene': 'GC05M073449', 'score': 0.31}, {'connected_gene': 'GC05P073385', 'score': 0.21}]

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