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
ENST00000298694 [[21538428, 21538558], [21541203, 21541401], [21542090, 21543339], [21543490, 21543658], [21543803, 21543924], [21544518, 21544615], [21544721, 21544802], [21544932, 21545049], [21546335, 21546431], [21546531, 21546647], [21547042, 21547169], [21548818, 21548941], [21549031, 21549175], [21549667, 21550278], [21550402, 21550637], [21550989, 21551076], [21551993, 21552209], [21552911, 21553082], [21553847, 21554025], [21555159, 21555264], [21555478, 21555622], [21556126, 21556257], [21556988, 21557035], [21557172, 21558399]] [[21538555, 21538558], [21541203, 21541401], [21542090, 21543339], [21543490, 21543658], [21543803, 21543924], [21544518, 21544615], [21544721, 21544802], [21544932, 21545049], [21546335, 21546431], [21546531, 21546647], [21547042, 21547169], [21548818, 21548941], [21549031, 21549175], [21549667, 21550278], [21550402, 21550637], [21550989, 21551076], [21551993, 21552209], [21552911, 21553082], [21553847, 21554025], [21555159, 21555264], [21555478, 21555622], [21556126, 21556257], [21556988, 21557030]]
ENST00000555038 [[21538431, 21538558], [21541203, 21541401], [21542090, 21543339], [21543490, 21543712]] [[21538555, 21538558], [21541203, 21541401], [21542090, 21543339], [21543490, 21543712]]
ENST00000556399 [[21538449, 21538558], [21541203, 21541401], [21542090, 21543150], [21543490, 21543658], [21543781, 21543924], [21544518, 21544615], [21544721, 21544802], [21544932, 21545049], [21546335, 21546431], [21546531, 21546647], [21547042, 21547169], [21548818, 21548941], [21549031, 21549175], [21549667, 21550278], [21550402, 21550637], [21550989, 21551076], [21551993, 21552209], [21552911, 21553082], [21553847, 21554025], [21555159, 21555264], [21556126, 21556257], [21556988, 21557035], [21557172, 21557714]] [[21538555, 21538558], [21541203, 21541401], [21542090, 21543150], [21543490, 21543658], [21543781, 21543861]]
ENST00000553709 [[21538475, 21538558], [21541203, 21541401], [21542090, 21543339], [21543490, 21543658], [21543803, 21543924], [21544518, 21544615], [21544694, 21544802], [21544932, 21545049], [21546335, 21546431], [21546531, 21546647], [21547042, 21547169], [21548818, 21548941], [21549031, 21549175], [21549667, 21550278], [21550402, 21550637], [21550989, 21551076], [21551993, 21552209], [21552911, 21553082], [21553847, 21554025], [21555159, 21555264], [21555478, 21555622], [21556126, 21556257], [21556988, 21557035], [21557172, 21557704]] [[21538555, 21538558], [21541203, 21541401], [21542090, 21543339], [21543490, 21543658], [21543803, 21543924], [21544518, 21544615], [21544694, 21544721]]
ENST00000555232 [[21538526, 21538558], [21541203, 21541337], [21544518, 21544615], [21544721, 21544802], [21544932, 21545049], [21546335, 21546366], [21547056, 21547169], [21548818, 21548941], [21549031, 21550278], [21550402, 21550637], [21550989, 21551076], [21551993, 21552209], [21552911, 21553082], [21553847, 21555065]] None
ENST00000298693 [[21538526, 21538558], [21541203, 21541401], [21542090, 21543339], [21543490, 21543658], [21543803, 21543924], [21544518, 21544615], [21544721, 21544802], [21544932, 21545049], [21546335, 21546431], [21546531, 21546647], [21547042, 21547169], [21548818, 21548941], [21549031, 21549175], [21549667, 21550278], [21550402, 21550637], [21550989, 21551076], [21551993, 21552209], [21552911, 21553082], [21553847, 21554025], [21555159, 21555264], [21556126, 21556257], [21556988, 21557035], [21557172, 21558036]] [[21538555, 21538558], [21541203, 21541401], [21542090, 21543339], [21543490, 21543658], [21543803, 21543924], [21544518, 21544615], [21544721, 21544802], [21544932, 21545049], [21546335, 21546431], [21546531, 21546647], [21547042, 21547169], [21548818, 21548941], [21549031, 21549175], [21549667, 21550278], [21550402, 21550637], [21550989, 21551076], [21551993, 21552209], [21552911, 21553082], [21553847, 21554025], [21555159, 21555264], [21556126, 21556257], [21556988, 21557030]]
ENST00000555052 [[21542935, 21543339], [21543490, 21543924], [21544518, 21544615]] None
ENST00000554514 [[21549055, 21549175], [21549667, 21550278], [21550402, 21550637], [21550989, 21551076], [21551993, 21552209], [21552911, 21553082], [21553847, 21554025], [21555159, 21555622], [21556126, 21556257], [21556988, 21557704]] None
ENST00000557498 [[21555911, 21556257], [21556988, 21557035], [21557172, 21557573]] None
NM_001278530 [[21538418, 21538558], [21541203, 21541401], [21542090, 21543150], [21543490, 21543658], [21543781, 21543924], [21544518, 21544615], [21544721, 21544802], [21544932, 21545049], [21546335, 21546431], [21546531, 21546647], [21547042, 21547169], [21548818, 21548941], [21549031, 21549175], [21549667, 21550278], [21550402, 21550637], [21550989, 21551076], [21551993, 21552209], [21552911, 21553082], [21553847, 21554025], [21555159, 21555264], [21556126, 21556257], [21556988, 21557035], [21557172, 21558407]] [[21546543, 21546647], [21547042, 21547169], [21548818, 21548941], [21549031, 21549175], [21549667, 21550278], [21550402, 21550637], [21550989, 21551076], [21551993, 21552209], [21552911, 21553082], [21553847, 21554025], [21555159, 21555264], [21556126, 21556257], [21556988, 21557030]]
NM_018071 [[21538418, 21538558], [21541203, 21541401], [21542090, 21543339], [21543490, 21543658], [21543803, 21543924], [21544518, 21544615], [21544721, 21544802], [21544932, 21545049], [21546335, 21546431], [21546531, 21546647], [21547042, 21547169], [21548818, 21548941], [21549031, 21549175], [21549667, 21550278], [21550402, 21550637], [21550989, 21551076], [21551993, 21552209], [21552911, 21553082], [21553847, 21554025], [21555159, 21555264], [21555478, 21555622], [21556126, 21556257], [21556988, 21557035], [21557172, 21558407]] [[21538555, 21538558], [21541203, 21541401], [21542090, 21543339], [21543490, 21543658], [21543803, 21543924], [21544518, 21544615], [21544721, 21544802], [21544932, 21545049], [21546335, 21546431], [21546531, 21546647], [21547042, 21547169], [21548818, 21548941], [21549031, 21549175], [21549667, 21550278], [21550402, 21550637], [21550989, 21551076], [21551993, 21552209], [21552911, 21553082], [21553847, 21554025], [21555159, 21555264], [21555478, 21555622], [21556126, 21556257], [21556988, 21557030]]
NM_001278529 [[21538418, 21538558], [21541203, 21541401], [21542090, 21543339], [21543490, 21543658], [21543803, 21543924], [21544518, 21544615], [21544694, 21544802], [21544932, 21545049], [21546335, 21546431], [21546531, 21546647], [21547042, 21547169], [21548818, 21548941], [21549031, 21549175], [21549667, 21550278], [21550402, 21550637], [21550989, 21551076], [21551993, 21552209], [21552911, 21553082], [21553847, 21554025], [21555159, 21555264], [21555478, 21555622], [21556126, 21556257], [21556988, 21557035], [21557172, 21558407]] [[21546543, 21546647], [21547042, 21547169], [21548818, 21548941], [21549031, 21549175], [21549667, 21550278], [21550402, 21550637], [21550989, 21551076], [21551993, 21552209], [21552911, 21553082], [21553847, 21554025], [21555159, 21555264], [21555478, 21555622], [21556126, 21556257], [21556988, 21557030]]
Promoter
Chrom Start End Description
chr14 21537948 21537964 CAGE_peak_7_at_ARHGEF40_5end
chr14 21538220 21538243 CAGE_peak_4_at_ARHGEF40_5end
chr14 21538252 21538273 CAGE_peak_6_at_ARHGEF40_5end
chr14 21538399 21538424 CAGE_peak_2_at_ARHGEF40_5end
chr14 21538434 21538469 CAGE_peak_1_at_ARHGEF40_5end
chr14 21538517 21538539 CAGE_peak_3_at_ARHGEF40_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I021014 21014522 21016092 1.09 [{'connected_gene': 'RNASE7', 'score': 11.35}, {'connected_gene': 'ARHGEF40', 'score': 11.26}, {'connected_gene': 'NDRG2', 'score': 11.25}, {'connected_gene': 'ZNF219', 'score': 11.14}, {'connected_gene': 'METTL17', 'score': 10.98}, {'connected_gene': 'TMEM253', 'score': 10.91}, {'connected_gene': 'GC14M021020', 'score': 0.44}, {'connected_gene': 'GC14P021091', 'score': 0.39}]
chr14 GH14I021043 21043200 21045151 0.91 [{'connected_gene': 'RNASE7', 'score': 555.86}, {'connected_gene': 'PARP2', 'score': 13.42}, {'connected_gene': 'PIP4P1', 'score': 11.59}, {'connected_gene': 'NDRG2', 'score': 11.55}, {'connected_gene': 'ARHGEF40', 'score': 11.55}, {'connected_gene': 'ZNF219', 'score': 10.9}, {'connected_gene': 'TMEM253', 'score': 10.54}, {'connected_gene': 'ENSG00000258515', 'score': 9.82}, {'connected_gene': 'ENSG00000258768', 'score': 9.68}, {'connected_gene': 'LOC105370398', 'score': 0.44}]
chr14 GH14I020679 20679641 20689424 2.67 [{'connected_gene': 'RNASE4', 'score': 570.03}, {'connected_gene': 'ANG', 'score': 556.76}, {'connected_gene': 'TRP-TGG3-2', 'score': 550.77}, {'connected_gene': 'TRY-GTA5-5', 'score': 550.77}, {'connected_gene': 'PIR55020', 'score': 550.77}, {'connected_gene': 'ENSG00000259171', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 44.55}, {'connected_gene': 'ENSG00000258515', 'score': 38.75}, {'connected_gene': 'SUPT16H', 'score': 36.21}, {'connected_gene': 'CHD8', 'score': 32.71}, {'connected_gene': 'PARP2', 'score': 31.86}, {'connected_gene': 'TTC5', 'score': 21.96}, {'connected_gene': 'PIP4P1', 'score': 20.78}, {'connected_gene': 'ENSG00000258768', 'score': 18.52}, {'connected_gene': 'OSGEP', 'score': 16.13}, {'connected_gene': 'PNP', 'score': 15.64}, {'connected_gene': 'LINC00641', 'score': 15.57}, {'connected_gene': 'METTL17', 'score': 15.06}, {'connected_gene': 'TEP1', 'score': 14.24}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'RAB2B', 'score': 10.93}, {'connected_gene': 'ENSG00000259001', 'score': 5.03}, {'connected_gene': 'ZNF219', 'score': 3.58}, {'connected_gene': 'NDRG2', 'score': 1.44}, {'connected_gene': 'ARHGEF40', 'score': 1.39}, {'connected_gene': 'GC14P020760', 'score': 0.77}, {'connected_gene': 'TRT-TGT5-1', 'score': 0.77}, {'connected_gene': 'PIR37991', 'score': 0.77}]
chr14 GH14I021068 21068537 21073552 2.44 [{'connected_gene': 'ARHGEF40', 'score': 579.42}, {'connected_gene': 'NDRG2', 'score': 550.77}, {'connected_gene': 'TMEM253', 'score': 12.12}, {'connected_gene': 'ZNF219', 'score': 12.1}, {'connected_gene': 'RNASE7', 'score': 10.89}, {'connected_gene': 'TPPP2', 'score': 10.66}, {'connected_gene': 'RNASE13', 'score': 10.38}, {'connected_gene': 'ENSG00000255472', 'score': 10.38}, {'connected_gene': 'RNASE6', 'score': 2.28}, {'connected_gene': 'TOX4', 'score': 1.78}, {'connected_gene': 'HNRNPC', 'score': 1.69}, {'connected_gene': 'PIR44581', 'score': 0.34}]
chr14 GH14I021083 21083670 21086331 0.79 [{'connected_gene': 'ARHGEF40', 'score': 11.03}, {'connected_gene': 'PIR44581', 'score': 0.44}, {'connected_gene': 'NDRG2', 'score': 0.39}]
chr14 GH14I021086 21086584 21089393 1.09 [{'connected_gene': 'ARHGEF40', 'score': 20.43}, {'connected_gene': 'PIR44581', 'score': 0.77}, {'connected_gene': 'NDRG2', 'score': 0.37}]
chr14 GH14I021060 21060347 21061582 0.87 [{'connected_gene': 'ARHGEF40', 'score': 14.43}, {'connected_gene': 'RNASE8', 'score': 0.77}, {'connected_gene': 'NDRG2', 'score': 0.44}]
chr14 GH14I020797 20797302 20797451 0.78 [{'connected_gene': 'PNP', 'score': 8.85}, {'connected_gene': 'PIP4P1', 'score': 2.26}, {'connected_gene': 'ARHGEF40', 'score': 1.55}, {'connected_gene': 'OR6S1', 'score': 1.35}, {'connected_gene': 'OR5AU1', 'score': 1.33}, {'connected_gene': 'HNRNPC', 'score': 1.25}, {'connected_gene': 'RNASE1', 'score': 0.44}, {'connected_gene': 'LOC105370397', 'score': 0.44}]
chr14 GH14I020848 20848355 20849670 1.1 [{'connected_gene': 'PNP', 'score': 16.68}, {'connected_gene': 'EDDM3B', 'score': 11.58}, {'connected_gene': 'PIP4P1', 'score': 3.1}, {'connected_gene': 'ARHGEF40', 'score': 2.76}, {'connected_gene': 'RNASE6', 'score': 1.42}, {'connected_gene': 'TEP1', 'score': 1.21}, {'connected_gene': 'ENSG00000259130', 'score': 0.34}, {'connected_gene': 'GC14P020814', 'score': 0.29}]
chr14 GH14I021092 21092263 21110589 2.82 [{'connected_gene': 'ZNF219', 'score': 550.77}, {'connected_gene': 'TMEM253', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 57.68}, {'connected_gene': 'METTL17', 'score': 54.87}, {'connected_gene': 'SUPT16H', 'score': 48.9}, {'connected_gene': 'CHD8', 'score': 42.94}, {'connected_gene': 'TEP1', 'score': 24.51}, {'connected_gene': 'APEX1', 'score': 15.54}, {'connected_gene': 'PNP', 'score': 14.05}, {'connected_gene': 'ARHGEF40', 'score': 12.06}, {'connected_gene': 'SNORA79B', 'score': 9.89}, {'connected_gene': 'OR11H7', 'score': 4.6}, {'connected_gene': 'GC14M021101', 'score': 0.77}, {'connected_gene': 'PIR44581', 'score': 0.44}, {'connected_gene': 'ENSG00000178107', 'score': 0.44}, {'connected_gene': 'CKAP2P1', 'score': 0.39}]
chr14 GH14I021063 21063314 21063792 0.49 [{'connected_gene': 'RNASE8', 'score': 0.44}, {'connected_gene': 'NDRG2', 'score': 0.44}, {'connected_gene': 'ARHGEF40', 'score': 0.44}]
chr14 GH14I021057 21057842 21057901 0.92 [{'connected_gene': 'RNASE8', 'score': 550.77}, {'connected_gene': 'NDRG2', 'score': 0.39}, {'connected_gene': 'ARHGEF40', 'score': 0.39}]
chr14 GH14I020714 20714146 20716666 1.1 [{'connected_gene': 'EDDM3A', 'score': 20.13}, {'connected_gene': 'RNASE6', 'score': 16.87}, {'connected_gene': 'ENSG00000258515', 'score': 15.13}, {'connected_gene': 'METTL3', 'score': 14.65}, {'connected_gene': 'SUPT16H', 'score': 12.62}, {'connected_gene': 'METTL17', 'score': 12.03}, {'connected_gene': 'EDDM3B', 'score': 11.48}, {'connected_gene': 'RNASE1', 'score': 11.25}, {'connected_gene': 'ANG', 'score': 10.4}, {'connected_gene': 'ARHGEF40', 'score': 2.36}, {'connected_gene': 'PNP', 'score': 1.98}, {'connected_gene': 'TEP1', 'score': 1.9}, {'connected_gene': 'PIP4P1', 'score': 1.72}, {'connected_gene': 'PIR39681', 'score': 0.44}, {'connected_gene': 'GC14M020723', 'score': 0.44}, {'connected_gene': 'ENSG00000258451', 'score': 0.44}]
chr14 GH14I021134 21134062 21134211 0.2 [{'connected_gene': 'LOC105378175', 'score': 550.77}, {'connected_gene': 'ZNF219', 'score': 11.34}, {'connected_gene': 'NDRG2', 'score': 11.09}, {'connected_gene': 'ARHGEF40', 'score': 11.09}, {'connected_gene': 'TMEM253', 'score': 10.83}, {'connected_gene': 'RNU6-252P', 'score': 0.34}]
chr14 GH14I021089 21089572 21089989 0.31 [{'connected_gene': 'PIR44581', 'score': 0.77}, {'connected_gene': 'NDRG2', 'score': 0.37}, {'connected_gene': 'ARHGEF40', 'score': 0.37}]

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