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
ENST00000529181 [[80696691, 80696888], [80743220, 80743335], [80750269, 80750317], [80762558, 80762772], [80767350, 80767921]] None
ENST00000303329 [[80696692, 80696888], [80743220, 80743335], [80750269, 80750317], [80762558, 80762772], [80767350, 80767564], [80800496, 80800599], [80806251, 80806317], [80806660, 80806746], [80843539, 80843616], [80844980, 80845115], [80847405, 80847480], [80855428, 80855580], [80866488, 80866561], [80867327, 80867451], [80869206, 80869306], [80872751, 80872890], [80873579, 80873745], [80883908, 80884045], [80885940, 80890278]] [[80696857, 80696888], [80743220, 80743335], [80750269, 80750317], [80762558, 80762772], [80767350, 80767564], [80800496, 80800599], [80806251, 80806317], [80806660, 80806746], [80843539, 80843616], [80844980, 80845115], [80847405, 80847480], [80855428, 80855580], [80866488, 80866561], [80867327, 80867451], [80869206, 80869306], [80872751, 80872890], [80873579, 80873745], [80883908, 80884045], [80885940, 80886039]]
ENST00000533983 [[80733571, 80733719], [80735177, 80735366], [80743220, 80743335], [80750269, 80750317], [80762558, 80762772], [80767350, 80767564], [80800496, 80800599], [80806251, 80806317], [80806660, 80806746], [80843539, 80843616], [80844980, 80845115], [80847405, 80847480], [80855428, 80855580], [80866488, 80866561], [80867327, 80867451], [80869206, 80869306], [80872751, 80872890], [80873579, 80873745], [80883908, 80884045], [80885940, 80890269]] [[80743222, 80743335], [80750269, 80750317], [80762558, 80762772], [80767350, 80767564], [80800496, 80800599], [80806251, 80806317], [80806660, 80806746], [80843539, 80843616], [80844980, 80845115], [80847405, 80847480], [80855428, 80855580], [80866488, 80866561], [80867327, 80867451], [80869206, 80869306], [80872751, 80872890], [80873579, 80873745], [80883908, 80884045], [80885940, 80886039]]
ENST00000527771 [[80733579, 80733719], [80743220, 80743335], [80750269, 80750317], [80762558, 80762772], [80767350, 80767564], [80800496, 80800599], [80806251, 80806317], [80806660, 80806746], [80843539, 80843616], [80844980, 80845115], [80847405, 80847480], [80855428, 80855580], [80866488, 80866561], [80867327, 80867451], [80869206, 80869306], [80872751, 80872890], [80873579, 80873745], [80883908, 80884045], [80885940, 80886234]] [[80743222, 80743335], [80750269, 80750317], [80762558, 80762772], [80767350, 80767564], [80800496, 80800599], [80806251, 80806317], [80806660, 80806746], [80843539, 80843616], [80844980, 80845115], [80847405, 80847480], [80855428, 80855580], [80866488, 80866561], [80867327, 80867451], [80869206, 80869306], [80872751, 80872890], [80873579, 80873745], [80883908, 80884045], [80885940, 80886039]]
ENST00000525103 [[80733580, 80733719], [80800496, 80800599], [80806251, 80806317], [80806660, 80806746], [80843539, 80843616], [80844980, 80845094]] [[80800552, 80800599], [80806251, 80806317], [80806660, 80806746], [80843539, 80843616], [80844980, 80845094]]
ENST00000525505 [[80866406, 80866561], [80867327, 80867451], [80869206, 80869306], [80872751, 80872890], [80873579, 80873646]] None
ENST00000531595 [[80762583, 80762772], [80767350, 80767564], [80780074, 80780215], [80780906, 80781076]] None
ENST00000558849 [[80843444, 80843616], [80844980, 80845115], [80847405, 80847480], [80855428, 80855580], [80866488, 80866525]] None
NM_014862 [[80696691, 80696888], [80743220, 80743335], [80750269, 80750317], [80762558, 80762772], [80767350, 80767564], [80800496, 80800599], [80806251, 80806317], [80806660, 80806746], [80843539, 80843616], [80844980, 80845115], [80847405, 80847480], [80855428, 80855580], [80866488, 80866561], [80867327, 80867451], [80869206, 80869306], [80872751, 80872890], [80873579, 80873745], [80883908, 80884045], [80885940, 80890278]] [[80696857, 80696888], [80743220, 80743335], [80750269, 80750317], [80762558, 80762772], [80767350, 80767564], [80800496, 80800599], [80806251, 80806317], [80806660, 80806746], [80843539, 80843616], [80844980, 80845115], [80847405, 80847480], [80855428, 80855580], [80866488, 80866561], [80867327, 80867451], [80869206, 80869306], [80872751, 80872890], [80873579, 80873745], [80883908, 80884045], [80885940, 80886039]]
Promoter
Chrom Start End Description
chr15 80696248 80696259 CAGE_peak_15_at_ARNT2_5end
chr15 80696305 80696320 CAGE_peak_10_at_ARNT2_5end
chr15 80696410 80696477 CAGE_peak_6_at_ARNT2_5end
chr15 80696558 80696575 CAGE_peak_11_at_ARNT2_5end
chr15 80696606 80696633 CAGE_peak_8_at_ARNT2_5end
chr15 80696666 80696700 CAGE_peak_4_at_ARNT2_5end
chr15 80696703 80696754 CAGE_peak_1_at_ARNT2_5end
chr15 80696824 80696835 CAGE_peak_9_at_ARNT2_5end
chr15 80696836 80696853 CAGE_peak_7_at_ARNT2_5end
chr15 80733538 80733547 CAGE_peak_23_at_ARNT2_5end
chr15 80733550 80733559 CAGE_peak_16_at_ARNT2_5end
chr15 80733570 80733659 CAGE_peak_2_at_ARNT2_5end
chr15 80735233 80735240 CAGE_peak_14_at_ARNT2_5end
chr15 80735246 80735321 CAGE_peak_3_at_ARNT2_5end
chr15 80842979 80842998 CAGE_peak_20_at_ARNT2_5end
chr15 80843472 80843480 CAGE_peak_22_at_ARNT2_5end
chr15 80843484 80843499 CAGE_peak_5_at_ARNT2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I080849 80849083 80849815 0.43 [{'connected_gene': 'ARNT2', 'score': 9.35}, {'connected_gene': 'MIR549A', 'score': 0.44}, {'connected_gene': 'GC15M080848', 'score': 0.39}, {'connected_gene': 'CEMIP', 'score': 0.19}]
chr15 GH15I080430 80430083 80432771 0.31 [{'connected_gene': 'ARNT2', 'score': 11.83}, {'connected_gene': 'CEMIP', 'score': 10.36}, {'connected_gene': 'ENSG00000258010', 'score': 5.03}, {'connected_gene': 'ST20', 'score': 4.55}, {'connected_gene': 'MTHFS', 'score': 4.39}]
chr15 GH15I080889 80889293 80891779 0.31 [{'connected_gene': 'ARNT2', 'score': 9.57}, {'connected_gene': 'CEMIP', 'score': 6.37}, {'connected_gene': 'ST20-AS1', 'score': 5.33}, {'connected_gene': 'GC15P080893', 'score': 0.77}, {'connected_gene': 'GC15M080848', 'score': 0.31}]
chr15 GH15I080523 80523830 80524078 0.44 [{'connected_gene': 'ARNT2', 'score': 12.81}, {'connected_gene': 'CEMIP', 'score': 1.36}, {'connected_gene': 'GC15M080508', 'score': 0.39}, {'connected_gene': 'LOC101929586', 'score': 0.28}]
chr15 GH15I080436 80436180 80437473 0.83 [{'connected_gene': 'ARNT2', 'score': 11.81}, {'connected_gene': 'CEMIP', 'score': 10.36}, {'connected_gene': 'ENSG00000258010', 'score': 0.44}]
chr15 GH15I080274 80274220 80276547 0.56 [{'connected_gene': 'ARNT2', 'score': 10.33}, {'connected_gene': 'RNU6-667P', 'score': 9.2}, {'connected_gene': 'CTXND1', 'score': 8.67}, {'connected_gene': 'GC15P080333', 'score': 0.22}, {'connected_gene': 'LINC00927', 'score': 0.2}]
chr15 GH15I080525 80525972 80528067 0.58 [{'connected_gene': 'ARNT2', 'score': 9.83}, {'connected_gene': 'GC15M080508', 'score': 0.37}, {'connected_gene': 'LOC101929586', 'score': 0.28}]
chr15 GH15I080528 80528100 80528249 0.63 [{'connected_gene': 'ARNT2', 'score': 9.8}, {'connected_gene': 'GC15M080508', 'score': 0.37}, {'connected_gene': 'LOC101929586', 'score': 0.29}]
chr15 GH15I080403 80403665 80405328 1.98 [{'connected_gene': 'ARNT2', 'score': 556.56}, {'connected_gene': 'LOC101929560', 'score': 550.77}, {'connected_gene': 'GC15P080370', 'score': 0.29}, {'connected_gene': 'ENSG00000258010', 'score': 0.26}]
chr15 GH15I080405 80405410 80405582 0.79 [{'connected_gene': 'ARNT2', 'score': 567.53}, {'connected_gene': 'LOC101929560', 'score': 550.77}, {'connected_gene': 'ENSG00000258010', 'score': 0.28}]
chr15 GH15I080419 80419106 80419982 0.76 [{'connected_gene': 'ARNT2', 'score': 11.73}, {'connected_gene': 'CTXND1', 'score': 5.53}, {'connected_gene': 'ENSG00000258010', 'score': 0.31}]
chr15 GH15I080599 80599021 80600239 0.69 [{'connected_gene': 'ARNT2', 'score': 5.13}, {'connected_gene': 'MIR5572', 'score': 0.37}, {'connected_gene': 'GC15P080662', 'score': 0.21}]
chr15 GH15I080595 80595714 80597624 0.87 [{'connected_gene': 'ARNT2', 'score': 15.47}, {'connected_gene': 'MIR5572', 'score': 0.37}, {'connected_gene': 'GC15P080662', 'score': 0.2}]
chr15 GH15I080425 80425462 80428907 0.31 [{'connected_gene': 'ARNT2', 'score': 20.51}, {'connected_gene': 'ENSG00000258010', 'score': 0.37}]
chr15 GH15I080409 80409329 80410757 0.2 [{'connected_gene': 'ARNT2', 'score': 9.87}, {'connected_gene': 'ENSG00000258010', 'score': 0.28}]
chr15 GH15I080417 80417389 80418679 0.46 [{'connected_gene': 'ARNT2', 'score': 11.74}, {'connected_gene': 'ENSG00000258010', 'score': 0.31}]
chr15 GH15I080796 80796560 80796689 0.2 [{'connected_gene': 'MIR549A', 'score': 12.16}, {'connected_gene': 'ARNT2', 'score': 10.46}, {'connected_gene': 'CEMIP', 'score': 0.37}, {'connected_gene': 'GC15P080826', 'score': 0.31}]
chr15 GH15I080868 80867120 80867309 0.2 [{'connected_gene': 'MIR549A', 'score': 12.05}, {'connected_gene': 'ARNT2', 'score': 9.39}, {'connected_gene': 'GC15M080848', 'score': 0.44}, {'connected_gene': 'GC15P080893', 'score': 0.31}, {'connected_gene': 'CEMIP', 'score': 0.17}]
chr15 GH15I080867 80867640 80867678 0.2 [{'connected_gene': 'MIR549A', 'score': 12.05}, {'connected_gene': 'ARNT2', 'score': 9.39}, {'connected_gene': 'GC15M080848', 'score': 0.44}, {'connected_gene': 'GC15P080893', 'score': 0.31}, {'connected_gene': 'CEMIP', 'score': 0.17}]
chr15 GH15I080870 80870036 80872146 0.38 [{'connected_gene': 'MIR549A', 'score': 12.12}, {'connected_gene': 'MESD', 'score': 10.43}, {'connected_gene': 'ARNT2', 'score': 9.67}, {'connected_gene': 'GC15M080848', 'score': 0.44}, {'connected_gene': 'GC15P080893', 'score': 0.34}, {'connected_gene': 'CEMIP', 'score': 0.16}]
chr15 GH15I080620 80620351 80621297 0.51 [{'connected_gene': 'ABHD17C', 'score': 11.98}, {'connected_gene': 'RNU6-380P', 'score': 11.62}, {'connected_gene': 'CEMIP', 'score': 11.29}, {'connected_gene': 'ARNT2', 'score': 10.06}, {'connected_gene': 'MIR5572', 'score': 0.28}, {'connected_gene': 'GC15P080662', 'score': 0.26}]
chr15 GH15I080678 80678388 80686061 0.93 [{'connected_gene': 'CEMIP', 'score': 10.72}, {'connected_gene': 'ARNT2', 'score': 9.49}, {'connected_gene': 'ABHD17C', 'score': 5.34}, {'connected_gene': 'GC15P080692', 'score': 0.44}]
chr15 GH15I080491 80491186 80491515 0.62 [{'connected_gene': 'CEMIP', 'score': 10.75}, {'connected_gene': 'ARNT2', 'score': 10.16}, {'connected_gene': 'ZFAND6', 'score': 5.25}, {'connected_gene': 'GC15M080508', 'score': 0.37}, {'connected_gene': 'GC15P080469', 'score': 0.34}]
chr15 GH15I080473 80473201 80475382 1.02 [{'connected_gene': 'CEMIP', 'score': 11.34}, {'connected_gene': 'ARNT2', 'score': 10.36}, {'connected_gene': 'ZFAND6', 'score': 2.75}, {'connected_gene': 'GC15P080469', 'score': 0.77}, {'connected_gene': 'GC15M080508', 'score': 0.29}]
chr15 GH15I080461 80461154 80463474 0.66 [{'connected_gene': 'CEMIP', 'score': 11.94}, {'connected_gene': 'ARNT2', 'score': 10.76}, {'connected_gene': 'ST20', 'score': 5.66}, {'connected_gene': 'GC15P080469', 'score': 0.44}, {'connected_gene': 'GC15M080442', 'score': 0.37}]
chr15 GH15I080451 80451160 80451309 0.63 [{'connected_gene': 'CEMIP', 'score': 11.38}, {'connected_gene': 'ARNT2', 'score': 11.06}, {'connected_gene': 'MESD', 'score': 10.68}, {'connected_gene': 'GC15M080442', 'score': 0.44}, {'connected_gene': 'GC15P080469', 'score': 0.37}]
chr15 GH15I080454 80454582 80456489 0.95 [{'connected_gene': 'CEMIP', 'score': 11.45}, {'connected_gene': 'ARNT2', 'score': 11.05}, {'connected_gene': 'MESD', 'score': 10.68}, {'connected_gene': 'GC15M080442', 'score': 0.44}, {'connected_gene': 'GC15P080469', 'score': 0.39}]
chr15 GH15I080804 80804325 80804389 0.2 [{'connected_gene': 'CEMIP', 'score': 11.91}, {'connected_gene': 'ARNT2', 'score': 9.51}, {'connected_gene': 'RNU6-380P', 'score': 9.44}, {'connected_gene': 'GC15P080826', 'score': 0.34}]
chr15 GH15I080548 80548118 80552189 0.74 [{'connected_gene': 'CEMIP', 'score': 10.48}, {'connected_gene': 'ARNT2', 'score': 9.92}, {'connected_gene': 'LOC101929586', 'score': 0.39}, {'connected_gene': 'GC15M080508', 'score': 0.26}]
chr15 GH15I080487 80487100 80490720 0.94 [{'connected_gene': 'CEMIP', 'score': 10.91}, {'connected_gene': 'ARNT2', 'score': 10.17}, {'connected_gene': 'GC15P080469', 'score': 0.37}, {'connected_gene': 'GC15M080508', 'score': 0.34}]
chr15 GH15I080493 80493018 80496147 1.22 [{'connected_gene': 'CEMIP', 'score': 12.95}, {'connected_gene': 'ARNT2', 'score': 10.72}, {'connected_gene': 'GC15M080508', 'score': 0.39}, {'connected_gene': 'GC15P080469', 'score': 0.34}]
chr15 GH15I080476 80476892 80486356 1.4 [{'connected_gene': 'CEMIP', 'score': 13.83}, {'connected_gene': 'ARNT2', 'score': 11.83}, {'connected_gene': 'GC15P080469', 'score': 0.39}, {'connected_gene': 'GC15M080508', 'score': 0.31}]
chr15 GH15I080464 80464661 80466011 0.69 [{'connected_gene': 'CEMIP', 'score': 11.33}, {'connected_gene': 'ARNT2', 'score': 10.75}, {'connected_gene': 'GC15P080469', 'score': 0.77}, {'connected_gene': 'GC15M080442', 'score': 0.37}]
chr15 GH15I080456 80456551 80457489 0.74 [{'connected_gene': 'CEMIP', 'score': 11.45}, {'connected_gene': 'GC15P080469', 'score': 0.39}, {'connected_gene': 'GC15M080442', 'score': 0.39}, {'connected_gene': 'ARNT2', 'score': 0.23}]
chr15 GH15I080567 80567264 80569687 1.09 [{'connected_gene': 'CEMIP', 'score': 11.33}, {'connected_gene': 'PIR54640', 'score': 0.44}, {'connected_gene': 'ENSG00000270919', 'score': 0.39}, {'connected_gene': 'ARNT2', 'score': 0.1}]
chr15 GH15I080459 80459500 80459709 0.8 [{'connected_gene': 'CEMIP', 'score': 11.46}, {'connected_gene': 'GC15P080469', 'score': 0.39}, {'connected_gene': 'GC15M080442', 'score': 0.39}, {'connected_gene': 'ARNT2', 'score': 0.22}]
chr15 GH15I080536 80536237 80536442 0.42 [{'connected_gene': 'ZFAND6', 'score': 4.25}, {'connected_gene': 'GC15M080508', 'score': 0.31}, {'connected_gene': 'LOC101929586', 'score': 0.31}, {'connected_gene': 'ARNT2', 'score': 0.12}]
chr15 GH15I080934 80934297 80935430 0.69 [{'connected_gene': 'MESD', 'score': 17.38}, {'connected_gene': 'ARNT2', 'score': 11.89}, {'connected_gene': 'TLNRD1', 'score': 5.99}, {'connected_gene': 'GC15M080926', 'score': 0.77}, {'connected_gene': 'GC15P080943', 'score': 0.44}, {'connected_gene': 'ENSG00000259546', 'score': 0.39}, {'connected_gene': 'CEMIP', 'score': 0.1}]
chr15 GH15I080316 80316956 80318148 0.88 [{'connected_gene': 'CTXND1', 'score': 11.0}, {'connected_gene': 'ARNT2', 'score': 10.73}, {'connected_gene': 'GC15P080333', 'score': 0.37}, {'connected_gene': 'LINC00927', 'score': 0.34}]
chr15 GH15I080283 80283046 80283963 0.38 [{'connected_gene': 'CTXND1', 'score': 25.23}, {'connected_gene': 'ARNT2', 'score': 10.08}, {'connected_gene': 'RNU6-667P', 'score': 9.45}, {'connected_gene': 'GC15P080333', 'score': 0.25}, {'connected_gene': 'LINC00927', 'score': 0.22}]
chr15 GH15I080410 80410805 80416535 0.38 [{'connected_gene': 'CTXND1', 'score': 6.15}, {'connected_gene': 'ARNT2', 'score': 5.98}, {'connected_gene': 'ENSG00000258010', 'score': 0.29}]
chr15 GH15I080439 80439270 80448032 0.81 [{'connected_gene': 'ENSG00000258010', 'score': 550.77}, {'connected_gene': 'ARNT2', 'score': 11.07}, {'connected_gene': 'CEMIP', 'score': 10.7}, {'connected_gene': 'ST20', 'score': 5.72}, {'connected_gene': 'MTHFS', 'score': 4.42}, {'connected_gene': 'GC15M080442', 'score': 0.77}]
chr15 GH15I080614 80614726 80617375 1.11 [{'connected_gene': 'ENSG00000259649', 'score': 12.76}, {'connected_gene': 'ARNT2', 'score': 11.94}, {'connected_gene': 'RNU6-380P', 'score': 11.6}, {'connected_gene': 'CEMIP', 'score': 11.02}, {'connected_gene': 'MIR5572', 'score': 0.29}, {'connected_gene': 'GC15P080662', 'score': 0.25}]
chr15 GH15I080497 80497514 80497682 0.47 [{'connected_gene': 'GC15M080508', 'score': 0.39}, {'connected_gene': 'GC15P080469', 'score': 0.31}, {'connected_gene': 'ARNT2', 'score': 0.16}]
chr15 GH15I080506 80506247 80509092 0.89 [{'connected_gene': 'GC15M080508', 'score': 550.77}, {'connected_gene': 'GC15P080469', 'score': 0.28}, {'connected_gene': 'ARNT2', 'score': 0.15}]
chr15 GH15I080502 80502044 80504521 0.4 [{'connected_gene': 'GC15M080508', 'score': 0.44}, {'connected_gene': 'GC15P080469', 'score': 0.29}, {'connected_gene': 'ARNT2', 'score': 0.15}]
chr15 GH15I080498 80497833 80499482 0.31 [{'connected_gene': 'GC15M080508', 'score': 0.39}, {'connected_gene': 'GC15P080469', 'score': 0.31}, {'connected_gene': 'ARNT2', 'score': 0.16}]
chr15 GH15I080467 80467718 80469487 0.2 [{'connected_gene': 'GC15P080469', 'score': 550.77}, {'connected_gene': 'CEMIP', 'score': 11.0}, {'connected_gene': 'ARNT2', 'score': 10.13}, {'connected_gene': 'GC15M080442', 'score': 0.34}]
chr15 GH15I080583 80583590 80591436 1.47 [{'connected_gene': 'ENSG00000259649', 'score': 12.75}, {'connected_gene': 'CEMIP', 'score': 10.54}, {'connected_gene': 'TLNRD1', 'score': 2.84}, {'connected_gene': 'ARNT2', 'score': 2.05}, {'connected_gene': 'MIR5572', 'score': 0.44}, {'connected_gene': 'GC15P080662', 'score': 0.18}]
chr15 GH15I080530 80530358 80532374 0.51 [{'connected_gene': 'GC15M080508', 'score': 0.34}, {'connected_gene': 'LOC101929586', 'score': 0.29}, {'connected_gene': 'ARNT2', 'score': 0.13}]
chr15 GH15I080512 80512394 80515671 0.66 [{'connected_gene': 'GC15M080508', 'score': 0.44}, {'connected_gene': 'LOC101929586', 'score': 0.25}, {'connected_gene': 'ARNT2', 'score': 0.14}]
chr15 GH15I080517 80517069 80518328 0.31 [{'connected_gene': 'GC15M080508', 'score': 0.44}, {'connected_gene': 'LOC101929586', 'score': 0.25}, {'connected_gene': 'ARNT2', 'score': 0.14}]
chr15 GH15I080578 80578838 80583261 1.12 [{'connected_gene': 'ENSG00000270919', 'score': 550.77}, {'connected_gene': 'MIR5572', 'score': 550.77}, {'connected_gene': 'CEMIP', 'score': 11.19}, {'connected_gene': 'RNU6-380P', 'score': 10.57}, {'connected_gene': 'ARNT2', 'score': 0.1}]

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