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
ENST00000354662 [[16701306, 16704261], [16713346, 16713472], [16753588, 16753802], [16760869, 16761024]] [[16704155, 16704261], [16713346, 16713472], [16753588, 16753794]]
ENST00000441439 [[16701353, 16704261], [16713346, 16713472], [16753588, 16753802], [16758999, 16759066], [16760869, 16761069]] [[16704155, 16704261], [16713346, 16713472], [16753588, 16753794]]
ENST00000447609 [[16701354, 16704261], [16713346, 16713472], [16753588, 16753802], [16758999, 16759066], [16759683, 16759734]] [[16704155, 16704261], [16713346, 16713472], [16753588, 16753794]]
ENST00000320122 [[16701357, 16704261], [16713346, 16713472], [16753588, 16753802], [16757798, 16758313]] [[16704155, 16704261], [16713346, 16713472], [16753588, 16753794]]
ENST00000396205 [[16701357, 16704261], [16713346, 16713472], [16753534, 16753802], [16758999, 16759066], [16760869, 16761038]] [[16753584, 16753794]]
ENST00000261169 [[16701358, 16704261], [16713346, 16713472], [16753588, 16753802], [16757798, 16758081]] [[16704155, 16704261], [16713346, 16713472], [16753588, 16753802], [16757798, 16757823]]
ENST00000453727 [[16702308, 16704261], [16713346, 16713472], [16753647, 16753802], [16758999, 16759066], [16759272, 16759374]] [[16713436, 16713472], [16753647, 16753794]]
ENST00000540848 [[16703132, 16704261], [16713346, 16713472], [16753588, 16753802], [16758999, 16759066], [16763422, 16763460]] [[16704155, 16704261], [16713346, 16713472], [16753588, 16753794]]
ENST00000541589 [[16703135, 16704261], [16713346, 16713472], [16753647, 16753802], [16760869, 16760961]] [[16713436, 16713472], [16753647, 16753794]]
ENST00000535535 [[16703316, 16704261], [16713346, 16713472], [16753588, 16753802], [16758701, 16758904]] [[16704155, 16704261], [16713346, 16713472], [16753588, 16753794]]
ENST00000537304 [[16703382, 16704261], [16713346, 16713472], [16753588, 16753802], [16758999, 16759465]] [[16704155, 16704261], [16713346, 16713472], [16753588, 16753794]]
ENST00000541764 [[16703743, 16704261], [16713346, 16713472], [16747070, 16747268], [16751725, 16751901], [16753588, 16753802], [16758999, 16759066], [16759750, 16759940]] [[16751828, 16751901], [16753588, 16753794]]
ENST00000541295 [[16703757, 16704261], [16713346, 16713472], [16753588, 16753802], [16758701, 16758840]] [[16704155, 16704261], [16713346, 16713472], [16753588, 16753802], [16758701, 16758747]]
ENST00000534946 [[16703808, 16704261], [16713346, 16713472], [16753588, 16753802], [16758999, 16759066], [16762667, 16762823]] [[16704155, 16704261], [16713346, 16713472], [16753588, 16753794]]
ENST00000424192 [[16703901, 16704261], [16713346, 16713472], [16747070, 16747195], [16753588, 16753802], [16758999, 16759066], [16762667, 16762758]] [[16747188, 16747195], [16753588, 16753794]]
ENST00000540445 [[16703978, 16704261], [16713346, 16713472], [16747070, 16747195], [16753647, 16753802], [16758999, 16759066], [16759934, 16760084]] [[16704155, 16704261], [16713346, 16713472], [16747070, 16747195], [16753647, 16753794]]
ENST00000541846 [[16704115, 16704261], [16713346, 16713472], [16753588, 16753802], [16763441, 16763528]] [[16704155, 16704261], [16713346, 16713472], [16753588, 16753794]]
ENST00000536172 [[16704161, 16704261], [16713346, 16713472], [16753647, 16753802], [16758999, 16759066], [16759980, 16760119]] [[16713436, 16713472], [16753647, 16753794]]
ENST00000544754 [[16704165, 16704261], [16713346, 16713472], [16753534, 16753802], [16760869, 16760934]] [[16753584, 16753794]]
ENST00000539534 [[16704237, 16704261], [16713346, 16713472], [16753588, 16753802], [16754951, 16755130]] [[16704237, 16704261], [16713346, 16713472], [16753588, 16753794]]
ENST00000546281 [[16704237, 16704261], [16713346, 16713472], [16753588, 16753802], [16758999, 16759066], [16760224, 16760289]] [[16704237, 16704261], [16713346, 16713472], [16753588, 16753794]]
ENST00000537757 [[16704237, 16704261], [16713346, 16713472], [16753588, 16753802], [16758999, 16759066], [16760238, 16760323]] [[16704237, 16704261], [16713346, 16713472], [16753588, 16753794]]
ENST00000539232 [[16704251, 16704261], [16713346, 16713472], [16753647, 16753802], [16758558, 16758847]] [[16713436, 16713472], [16753647, 16753794]]
ENST00000546279 [[16713346, 16713472], [16753588, 16753802], [16758999, 16759066], [16761477, 16761660]] [[16713346, 16713472], [16753588, 16753794]]
ENST00000538051 [[16713386, 16713472], [16753588, 16753802], [16760869, 16761148]] [[16713386, 16713472], [16753588, 16753794]]
ENST00000536509 [[16713408, 16713472], [16753647, 16753802], [16758999, 16759066], [16760594, 16760858]] None
ENST00000545436 [[16713414, 16713472], [16753588, 16753802], [16757525, 16757783]] [[16713414, 16713472], [16753588, 16753794]]
ENST00000540590 [[16713425, 16713472], [16753588, 16753802], [16762667, 16762971]] [[16713425, 16713472], [16753588, 16753794]]
ENST00000332914 [[16713439, 16713472], [16753647, 16753802], [16762667, 16763028]] None
ENST00000537568 [[16747185, 16747268], [16753647, 16753802], [16762667, 16763023]] None
ENST00000543721 [[16750549, 16753802], [16758999, 16759066], [16759750, 16760056]] None
ENST00000544276 [[16751808, 16751901], [16753588, 16753802], [16760869, 16761022]] None
ENST00000439600 [[16752950, 16753802], [16757798, 16757990]] None
ENST00000538020 [[16753619, 16753802], [16754788, 16755227]] [[16753619, 16753794]]
NM_001243611 [[16701305, 16704261], [16713346, 16713472], [16753588, 16753802], [16757798, 16758313]] [[16704155, 16704261], [16713346, 16713472], [16753588, 16753802], [16757798, 16757823]]
NM_001243612 [[16701305, 16704261], [16713346, 16713472], [16753588, 16753802], [16758701, 16758904]] [[16704155, 16704261], [16713346, 16713472], [16753588, 16753802], [16758701, 16758747]]
NM_018640 [[16701305, 16704261], [16713346, 16713472], [16753588, 16753802], [16758999, 16759536]] [[16704155, 16704261], [16713346, 16713472], [16753588, 16753794]]
NM_001243610 [[16701305, 16704261], [16713346, 16713472], [16753588, 16753802], [16758999, 16759066], [16759683, 16759734]] [[16704155, 16704261], [16713346, 16713472], [16753588, 16753794]]
NM_001243613 [[16701305, 16704261], [16713346, 16713472], [16747070, 16747195], [16753647, 16753802], [16758999, 16759066], [16759934, 16760084]] [[16704155, 16704261], [16713346, 16713472], [16747070, 16747195], [16753647, 16753794]]
NR_045012 [[16701305, 16704261], [16713346, 16713472], [16747070, 16747195], [16753588, 16753802], [16758999, 16759066], [16760869, 16761148]] None
NM_001243609 [[16701305, 16704261], [16713346, 16713472], [16753588, 16753802], [16758999, 16759066], [16760869, 16761148]] [[16704155, 16704261], [16713346, 16713472], [16753588, 16753794]]
NR_045013 [[16701305, 16704261], [16713346, 16713472], [16753647, 16753802], [16758999, 16759066], [16760869, 16761148]] None
NM_001001395 [[16701305, 16704261], [16713346, 16713472], [16753588, 16753802], [16760869, 16761148]] [[16704155, 16704261], [16713346, 16713472], [16753588, 16753794]]
NR_045014 [[16701305, 16704261], [16713346, 16713472], [16753647, 16753802], [16760869, 16761148]] None
Promoter
Chrom Start End Description
chr12 16753639 16753656 CAGE_peak_26_at_LMO3_5end
chr12 16757951 16757970 CAGE_peak_4_at_LMO3_5end
chr12 16757977 16757995 CAGE_peak_12_at_LMO3_5end
chr12 16758059 16758088 CAGE_peak_10_at_LMO3_5end
chr12 16758109 16758118 CAGE_peak_37_at_LMO3_5end
chr12 16758304 16758322 CAGE_peak_27_at_LMO3_5end
chr12 16758835 16758863 CAGE_peak_16_at_LMO3_5end
chr12 16758873 16758892 CAGE_peak_17_at_LMO3_5end
chr12 16759039 16759089 CAGE_peak_7_at_LMO3_5end
chr12 16759090 16759101 CAGE_peak_18_at_LMO3_5end
chr12 16759380 16759391 CAGE_peak_11_at_LMO3_5end
chr12 16759412 16759437 CAGE_peak_1_at_LMO3_5end
chr12 16759440 16759461 CAGE_peak_3_at_LMO3_5end
chr12 16759524 16759549 CAGE_peak_5_at_LMO3_5end
chr12 16759574 16759585 CAGE_peak_8_at_LMO3_5end
chr12 16759711 16759718 CAGE_peak_21_at_LMO3_5end
chr12 16760004 16760017 CAGE_peak_19_at_LMO3_5end
chr12 16760021 16760099 CAGE_peak_6_at_LMO3_5end
chr12 16760134 16760146 CAGE_peak_20_at_LMO3_5end
chr12 16760195 16760207 CAGE_peak_13_at_LMO3_5end
chr12 16760950 16760966 CAGE_peak_23_at_LMO3_5end
chr12 16761007 16761080 CAGE_peak_2_at_LMO3_5end
chr12 16761117 16761128 CAGE_peak_25_at_LMO3_5end
chr12 16762802 16762821 CAGE_peak_22_at_LMO3_5end
chr12 16763014 16763035 CAGE_peak_9_at_LMO3_5end
chr12 16763054 16763073 CAGE_peak_14_at_LMO3_5end
chr12 16763102 16763116 CAGE_peak_15_at_LMO3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I016600 16600883 16600942 0.7 [{'connected_gene': 'LMO3', 'score': 550.44}, {'connected_gene': 'GC12P016604', 'score': 0.77}, {'connected_gene': 'GC12M016551', 'score': 0.31}, {'connected_gene': 'MGST1', 'score': 0.07}]
chr12 GH12I016817 16817120 16817322 0.22 [{'connected_gene': 'LMO3', 'score': 1.67}, {'connected_gene': 'GC12P016793', 'score': 0.34}, {'connected_gene': 'LOC105369676', 'score': 0.34}, {'connected_gene': 'GC12M016744', 'score': 0.31}, {'connected_gene': 'LOC105369677', 'score': 0.09}]
chr12 GH12I016664 16664942 16665052 0.22 [{'connected_gene': 'LMO3', 'score': 3.77}, {'connected_gene': 'ENSG00000283240', 'score': 0.77}, {'connected_gene': 'GC12P016655', 'score': 0.44}, {'connected_gene': 'ENSG00000255871', 'score': 0.31}]
chr12 GH12I016610 16610169 16610590 0.71 [{'connected_gene': 'LMO3', 'score': 550.77}, {'connected_gene': 'GC12P016610', 'score': 550.77}, {'connected_gene': 'GC12P016607', 'score': 0.77}]
chr12 GH12I016611 16610725 16611119 0.83 [{'connected_gene': 'LMO3', 'score': 550.77}, {'connected_gene': 'GC12P016610', 'score': 550.77}, {'connected_gene': 'GC12P016607', 'score': 0.77}, {'connected_gene': 'GC12P016622', 'score': 0.39}]
chr12 GH12I016612 16612241 16613343 0.2 [{'connected_gene': 'LMO3', 'score': 0.77}, {'connected_gene': 'GC12P016622', 'score': 0.44}]
chr12 GH12I016367 16367481 16370546 0.2 [{'connected_gene': 'MGST1', 'score': 11.43}, {'connected_gene': 'ENSG00000256564', 'score': 8.71}, {'connected_gene': 'LMO3', 'score': 5.3}, {'connected_gene': 'GC12P016380', 'score': 0.39}]
chr12 GH12I016588 16588570 16589461 0.2 [{'connected_gene': 'GC12M016551', 'score': 0.37}, {'connected_gene': 'GC12P016604', 'score': 0.37}, {'connected_gene': 'LMO3', 'score': 0.34}, {'connected_gene': 'MGST1', 'score': 0.07}]
chr12 GH12I016603 16603558 16603828 0.71 [{'connected_gene': 'GC12P016604', 'score': 550.77}, {'connected_gene': 'LMO3', 'score': 0.44}, {'connected_gene': 'GC12M016551', 'score': 0.29}, {'connected_gene': 'MGST1', 'score': 0.07}]
chr12 GH12I016608 16608105 16608164 0.7 [{'connected_gene': 'GC12P016607', 'score': 550.77}, {'connected_gene': 'LMO3', 'score': 550.77}, {'connected_gene': 'GC12P016610', 'score': 0.77}, {'connected_gene': 'MGST1', 'score': 0.07}]
chr12 GH12I016609 16608761 16609281 0.71 [{'connected_gene': 'GC12P016607', 'score': 550.77}, {'connected_gene': 'LMO3', 'score': 550.77}, {'connected_gene': 'GC12P016610', 'score': 550.77}, {'connected_gene': 'MGST1', 'score': 0.07}]
chr12 GH12I016573 16573443 16574488 0.97 [{'connected_gene': 'GC12M016551', 'score': 0.77}, {'connected_gene': 'ENSG00000256564', 'score': 0.44}, {'connected_gene': 'GC12P016604', 'score': 0.29}, {'connected_gene': 'LMO3', 'score': 0.28}, {'connected_gene': 'MGST1', 'score': 0.07}]
chr12 GH12I016587 16587523 16587772 0.71 [{'connected_gene': 'GC12M016551', 'score': 0.37}, {'connected_gene': 'GC12P016604', 'score': 0.37}, {'connected_gene': 'LMO3', 'score': 0.34}, {'connected_gene': 'MGST1', 'score': 0.07}]
chr12 GH12I016613 16608224 16608570 0.78 [{'connected_gene': 'GC12P016607', 'score': 550.77}, {'connected_gene': 'GC12P016610', 'score': 550.77}, {'connected_gene': 'LMO3', 'score': 0.77}, {'connected_gene': 'MGST1', 'score': 0.07}]
chr12 GH12I016605 16604801 16607296 1.82 [{'connected_gene': 'GC12P016607', 'score': 550.77}, {'connected_gene': 'GC12P016604', 'score': 550.77}, {'connected_gene': 'LMO3', 'score': 550.77}, {'connected_gene': 'MGST1', 'score': 0.07}]
chr12 GH12I016586 16586071 16586996 0.4 [{'connected_gene': 'GC12M016551', 'score': 0.39}, {'connected_gene': 'GC12P016604', 'score': 0.37}, {'connected_gene': 'LMO3', 'score': 0.34}, {'connected_gene': 'MGST1', 'score': 0.07}]
chr12 GH12I016604 16604247 16604588 1.06 [{'connected_gene': 'GC12P016604', 'score': 550.77}, {'connected_gene': 'GC12P016607', 'score': 0.77}, {'connected_gene': 'LMO3', 'score': 0.44}, {'connected_gene': 'MGST1', 'score': 0.07}]
chr12 GH12I016583 16583121 16585019 0.51 [{'connected_gene': 'GC12M016551', 'score': 0.39}, {'connected_gene': 'GC12P016604', 'score': 0.34}, {'connected_gene': 'LMO3', 'score': 0.31}, {'connected_gene': 'MGST1', 'score': 0.07}]
chr12 GH12I016562 16562381 16563426 0.98 [{'connected_gene': 'ENSG00000256564', 'score': 0.77}, {'connected_gene': 'GC12M016551', 'score': 0.44}, {'connected_gene': 'LMO3', 'score': 0.25}, {'connected_gene': 'GOT2P4', 'score': 0.25}, {'connected_gene': 'MGST1', 'score': 0.08}]
chr12 GH12I016614 16609307 16609456 0.51 [{'connected_gene': 'GC12P016607', 'score': 550.77}, {'connected_gene': 'LMO3', 'score': 550.77}, {'connected_gene': 'GC12P016610', 'score': 550.77}]
chr12 GH12I016568 16568029 16569396 0.56 [{'connected_gene': 'ENSG00000256564', 'score': 550.77}, {'connected_gene': 'DERA', 'score': 4.17}, {'connected_gene': 'GC12M016551', 'score': 0.77}, {'connected_gene': 'LMO3', 'score': 0.26}, {'connected_gene': 'MGST1', 'score': 0.07}]
chr12 GH12I016550 16550792 16551001 0.4 [{'connected_gene': 'ENSG00000256564', 'score': 0.37}, {'connected_gene': 'GOT2P4', 'score': 0.28}, {'connected_gene': 'GC12P016503', 'score': 0.25}, {'connected_gene': 'LMO3', 'score': 0.22}, {'connected_gene': 'MGST1', 'score': 0.08}]