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
ENST00000424518 [[54356091, 54357908], [54358014, 54358067], [54359747, 54359871], [54360059, 54360161], [54361052, 54361178], [54362400, 54362540], [54368681, 54368740]] None
ENST00000455246 [[54357532, 54357908], [54359747, 54359871], [54360059, 54360161], [54361052, 54361178], [54362400, 54362540], [54368681, 54368731]] None
ENST00000425595 [[54357585, 54357908], [54359747, 54359871], [54360059, 54360161], [54360391, 54360414]] None
ENST00000453875 [[54357684, 54357908], [54358014, 54358067], [54359747, 54359843], [54360059, 54360161], [54361052, 54361139]] None
ENST00000439545 [[54357868, 54357908], [54359747, 54359867], [54360059, 54360161], [54362400, 54362698]] None
NR_003716 [[54356091, 54357908], [54358014, 54358067], [54359747, 54359871], [54360059, 54360161], [54361052, 54361178], [54362400, 54362540]] None
NR_047518 [[54356091, 54357908], [54359747, 54359867], [54360059, 54360161], [54362400, 54362698]] None
NR_047517 [[54356091, 54357908], [54359747, 54359871], [54360059, 54360161], [54361052, 54361178], [54362400, 54362540], [54368681, 54368740]] None
Promoter
Chrom Start End Description
chr12 54362447 54362462 CAGE_peak_1_at_HOTAIR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I054067 54067783 54068235 0.38 [{'connected_gene': 'MIR615', 'score': 11.5}, {'connected_gene': 'HOXC5', 'score': 11.44}, {'connected_gene': 'HOXC4', 'score': 11.44}, {'connected_gene': 'HOXC6', 'score': 11.39}, {'connected_gene': 'SMUG1', 'score': 10.97}, {'connected_gene': 'HOXC11', 'score': 10.92}, {'connected_gene': 'HOTAIR', 'score': 10.92}, {'connected_gene': 'HOXC8', 'score': 10.9}, {'connected_gene': 'HOXC-AS1', 'score': 10.88}, {'connected_gene': 'HOXC9', 'score': 10.87}, {'connected_gene': 'HOXC-AS2', 'score': 10.87}, {'connected_gene': 'FLJ12825', 'score': 0.44}, {'connected_gene': 'GC12P054090', 'score': 0.39}]
chr12 GH12I054076 54076137 54076306 0.46 [{'connected_gene': 'MIR615', 'score': 11.56}, {'connected_gene': 'HOXC5', 'score': 11.52}, {'connected_gene': 'HOXC4', 'score': 11.52}, {'connected_gene': 'HOXC6', 'score': 11.46}, {'connected_gene': 'LOC102724030', 'score': 11.42}, {'connected_gene': 'SMUG1', 'score': 11.36}, {'connected_gene': 'MIR196A2', 'score': 10.95}, {'connected_gene': 'HOXC-AS3', 'score': 10.93}, {'connected_gene': 'HOXC10', 'score': 10.93}, {'connected_gene': 'HOTAIR', 'score': 10.79}, {'connected_gene': 'HOXC11', 'score': 10.79}, {'connected_gene': 'HOXC8', 'score': 10.56}, {'connected_gene': 'HOXC-AS2', 'score': 10.43}, {'connected_gene': 'HOXC-AS1', 'score': 10.43}, {'connected_gene': 'HOXC9', 'score': 10.43}, {'connected_gene': 'GC12P054090', 'score': 0.77}, {'connected_gene': 'FLJ12825', 'score': 0.37}]
chr12 GH12I054130 54130615 54138911 1.04 [{'connected_gene': 'FLJ12825', 'score': 40.0}, {'connected_gene': 'TARBP2', 'score': 21.03}, {'connected_gene': 'SMUG1', 'score': 11.77}, {'connected_gene': 'MIR615', 'score': 11.54}, {'connected_gene': 'HOXC5', 'score': 11.51}, {'connected_gene': 'HOXC4', 'score': 11.51}, {'connected_gene': 'HOXC6', 'score': 11.5}, {'connected_gene': 'ENSG00000260470', 'score': 11.15}, {'connected_gene': 'HOXC8', 'score': 11.02}, {'connected_gene': 'HOXC9', 'score': 10.97}, {'connected_gene': 'HOXC-AS2', 'score': 10.97}, {'connected_gene': 'HOXC-AS1', 'score': 10.97}, {'connected_gene': 'HOXC-AS3', 'score': 10.86}, {'connected_gene': 'HOXC10', 'score': 10.86}, {'connected_gene': 'MIR196A2', 'score': 10.86}, {'connected_gene': 'ZNF740', 'score': 10.45}, {'connected_gene': 'HOTAIR', 'score': 10.27}, {'connected_gene': 'HOXC11', 'score': 10.27}, {'connected_gene': 'ENSG00000257596', 'score': 9.85}, {'connected_gene': 'SMUG1-AS1', 'score': 0.44}, {'connected_gene': 'LINC02381', 'score': 0.44}, {'connected_gene': 'GC12M054122', 'score': 0.26}]
chr12 GH12I053971 53971821 54008664 2.82 [{'connected_gene': 'HOXC11', 'score': 559.87}, {'connected_gene': 'HOXC9', 'score': 555.62}, {'connected_gene': 'HOXC6', 'score': 555.15}, {'connected_gene': 'HOXC10', 'score': 553.5}, {'connected_gene': 'GC12P054010', 'score': 550.77}, {'connected_gene': 'GC12P054044', 'score': 550.77}, {'connected_gene': 'MIR196A2', 'score': 550.77}, {'connected_gene': 'HNRNPA1', 'score': 65.29}, {'connected_gene': 'ZNF740', 'score': 61.89}, {'connected_gene': 'ENSG00000258344', 'score': 51.35}, {'connected_gene': 'ATF7', 'score': 48.41}, {'connected_gene': 'PCBP2', 'score': 44.23}, {'connected_gene': 'MAP3K12', 'score': 41.97}, {'connected_gene': 'LOC100652999', 'score': 40.66}, {'connected_gene': 'SP1', 'score': 36.3}, {'connected_gene': 'CALCOCO1', 'score': 30.73}, {'connected_gene': 'AAAS', 'score': 29.63}, {'connected_gene': 'HOTAIR', 'score': 21.61}, {'connected_gene': 'HOXC4', 'score': 20.46}, {'connected_gene': 'CBX5', 'score': 19.84}, {'connected_gene': 'HOXC8', 'score': 17.52}, {'connected_gene': 'HOXC12', 'score': 15.13}, {'connected_gene': 'HOXC-AS1', 'score': 15.08}, {'connected_gene': 'HOXC13', 'score': 13.58}, {'connected_gene': 'EIF4B', 'score': 13.2}, {'connected_gene': 'RARG', 'score': 11.97}, {'connected_gene': 'HOXC13-AS', 'score': 11.72}, {'connected_gene': 'IGFBP6', 'score': 11.27}, {'connected_gene': 'HOXC5', 'score': 11.22}, {'connected_gene': 'MIR615', 'score': 11.17}, {'connected_gene': 'CSAD', 'score': 10.36}, {'connected_gene': 'NPFF', 'score': 10.31}, {'connected_gene': 'ENSG00000257808', 'score': 9.82}, {'connected_gene': 'TARBP2', 'score': 9.76}, {'connected_gene': 'PFDN5', 'score': 9.7}, {'connected_gene': 'ENSG00000270175', 'score': 5.5}, {'connected_gene': 'ATP5MC2', 'score': 2.67}, {'connected_gene': 'PIR41189', 'score': 0.77}, {'connected_gene': 'ENSG00000273049', 'score': 0.77}, {'connected_gene': 'HOXC-AS3', 'score': 0.77}, {'connected_gene': 'GC12P054094', 'score': 0.77}, {'connected_gene': 'GC12P053988', 'score': 0.77}, {'connected_gene': 'HOXC-AS2', 'score': 0.44}, {'connected_gene': 'GC12P054014', 'score': 0.39}, {'connected_gene': 'GC12P054099', 'score': 0.39}, {'connected_gene': 'GC12P054098', 'score': 0.39}, {'connected_gene': 'GC12P053975', 'score': 0.37}]
chr12 GH12I053899 53899577 53899894 0.49 [{'connected_gene': 'HOXC11', 'score': 10.78}, {'connected_gene': 'HOTAIR', 'score': 10.77}, {'connected_gene': 'GC12M053911', 'score': 0.31}, {'connected_gene': 'GC12M053864', 'score': 0.29}]
chr12 GH12I054191 54191275 54192200 1.11 [{'connected_gene': 'HOXC8', 'score': 12.06}, {'connected_gene': 'HOXC-AS2', 'score': 12.05}, {'connected_gene': 'HOXC-AS1', 'score': 12.05}, {'connected_gene': 'HOXC9', 'score': 12.05}, {'connected_gene': 'HOXC6', 'score': 12.05}, {'connected_gene': 'MIR615', 'score': 11.65}, {'connected_gene': 'HOXC5', 'score': 11.64}, {'connected_gene': 'HOXC4', 'score': 11.64}, {'connected_gene': 'MAP3K12', 'score': 11.62}, {'connected_gene': 'LOC102724030', 'score': 11.59}, {'connected_gene': 'MIR196A2', 'score': 11.29}, {'connected_gene': 'HOXC-AS3', 'score': 11.29}, {'connected_gene': 'HOXC10', 'score': 11.29}, {'connected_gene': 'CBX5', 'score': 11.22}, {'connected_gene': 'HOTAIR', 'score': 10.65}, {'connected_gene': 'HOXC11', 'score': 10.65}, {'connected_gene': 'GC12P054193', 'score': 0.77}, {'connected_gene': 'LOC105369777', 'score': 0.77}]
chr12 GH12I054195 54195144 54198207 1.33 [{'connected_gene': 'HOXC8', 'score': 12.61}, {'connected_gene': 'HOXC-AS2', 'score': 12.6}, {'connected_gene': 'HOXC-AS1', 'score': 12.6}, {'connected_gene': 'HOXC9', 'score': 12.6}, {'connected_gene': 'HOXC6', 'score': 12.6}, {'connected_gene': 'MIR196A2', 'score': 11.8}, {'connected_gene': 'MIR615', 'score': 11.79}, {'connected_gene': 'HOXC5', 'score': 11.79}, {'connected_gene': 'HOXC4', 'score': 11.79}, {'connected_gene': 'LOC102724030', 'score': 11.58}, {'connected_gene': 'HOXC-AS3', 'score': 11.5}, {'connected_gene': 'HOXC10', 'score': 11.5}, {'connected_gene': 'HOTAIR', 'score': 10.65}, {'connected_gene': 'HOXC11', 'score': 10.65}, {'connected_gene': 'HOXC13', 'score': 10.54}, {'connected_gene': 'HOXC13-AS', 'score': 10.54}, {'connected_gene': 'FLJ12825', 'score': 9.13}, {'connected_gene': 'CALCOCO1', 'score': 2.14}, {'connected_gene': 'GPR84', 'score': 1.39}, {'connected_gene': 'NCKAP1L', 'score': 1.33}, {'connected_gene': 'GC12P054193', 'score': 0.77}, {'connected_gene': 'LOC105369777', 'score': 0.44}, {'connected_gene': 'MIR3198-2', 'score': 0.29}]
chr12 GH12I054201 54201437 54201586 0.8 [{'connected_gene': 'HOXC8', 'score': 12.61}, {'connected_gene': 'HOXC-AS2', 'score': 12.6}, {'connected_gene': 'HOXC-AS1', 'score': 12.6}, {'connected_gene': 'HOXC9', 'score': 12.6}, {'connected_gene': 'HOXC6', 'score': 12.6}, {'connected_gene': 'MIR196A2', 'score': 11.8}, {'connected_gene': 'MIR615', 'score': 11.8}, {'connected_gene': 'HOXC5', 'score': 11.78}, {'connected_gene': 'HOXC4', 'score': 11.78}, {'connected_gene': 'HOXC-AS3', 'score': 11.5}, {'connected_gene': 'HOXC10', 'score': 11.5}, {'connected_gene': 'LOC102724030', 'score': 11.31}, {'connected_gene': 'HOXC13', 'score': 10.54}, {'connected_gene': 'HOXC13-AS', 'score': 10.54}, {'connected_gene': 'HOTAIR', 'score': 10.39}, {'connected_gene': 'HOXC11', 'score': 10.39}, {'connected_gene': 'GC12P054193', 'score': 0.44}, {'connected_gene': 'LOC105369777', 'score': 0.39}, {'connected_gene': 'MIR3198-2', 'score': 0.31}]
chr12 GH12I054051 54051141 54055893 2.01 [{'connected_gene': 'HOXC4', 'score': 561.51}, {'connected_gene': 'AAAS', 'score': 31.14}, {'connected_gene': 'ATF7', 'score': 28.82}, {'connected_gene': 'RARG', 'score': 22.78}, {'connected_gene': 'HNRNPA1', 'score': 19.48}, {'connected_gene': 'ENSG00000260470', 'score': 18.41}, {'connected_gene': 'PCBP2', 'score': 14.92}, {'connected_gene': 'HOTAIR', 'score': 14.57}, {'connected_gene': 'SP1', 'score': 14.57}, {'connected_gene': 'IGFBP6', 'score': 13.28}, {'connected_gene': 'ENSG00000258344', 'score': 12.27}, {'connected_gene': 'HOXC5', 'score': 11.51}, {'connected_gene': 'HOXC6', 'score': 11.45}, {'connected_gene': 'PFDN5', 'score': 11.25}, {'connected_gene': 'MIR196A2', 'score': 11.23}, {'connected_gene': 'HOXC-AS3', 'score': 11.23}, {'connected_gene': 'HOXC10', 'score': 11.23}, {'connected_gene': 'HOXC8', 'score': 11.16}, {'connected_gene': 'HOXC-AS1', 'score': 11.01}, {'connected_gene': 'HOXC-AS2', 'score': 11.0}, {'connected_gene': 'HOXC9', 'score': 11.0}, {'connected_gene': 'LOC102724030', 'score': 10.94}, {'connected_gene': 'SMUG1', 'score': 10.9}, {'connected_gene': 'CBX5', 'score': 10.52}, {'connected_gene': 'LOC100652999', 'score': 10.43}, {'connected_gene': 'HOXC13', 'score': 10.42}, {'connected_gene': 'HOXC13-AS', 'score': 10.42}, {'connected_gene': 'HOXC11', 'score': 10.22}, {'connected_gene': 'ZNF740', 'score': 10.21}, {'connected_gene': 'FLJ12825', 'score': 7.19}, {'connected_gene': 'GC12P054078', 'score': 0.39}, {'connected_gene': 'PIR31123', 'score': 0.39}]
chr12 GH12I054188 54188000 54189626 1.97 [{'connected_gene': 'SMUG1', 'score': 550.77}, {'connected_gene': 'LOC105369777', 'score': 550.77}, {'connected_gene': 'FLJ12825', 'score': 28.48}, {'connected_gene': 'HOXC8', 'score': 12.06}, {'connected_gene': 'HOXC-AS1', 'score': 12.05}, {'connected_gene': 'HOXC9', 'score': 12.05}, {'connected_gene': 'HOXC-AS2', 'score': 12.05}, {'connected_gene': 'HOXC6', 'score': 12.05}, {'connected_gene': 'ENSG00000257605', 'score': 11.92}, {'connected_gene': 'MIR615', 'score': 11.65}, {'connected_gene': 'HOXC5', 'score': 11.64}, {'connected_gene': 'HOXC4', 'score': 11.64}, {'connected_gene': 'LOC102724030', 'score': 11.61}, {'connected_gene': 'MIR196A2', 'score': 11.29}, {'connected_gene': 'HOXC-AS3', 'score': 11.29}, {'connected_gene': 'HOXC10', 'score': 11.29}, {'connected_gene': 'HOXC11', 'score': 10.65}, {'connected_gene': 'HOTAIR', 'score': 10.65}, {'connected_gene': 'GC12M054122', 'score': 0.39}]
chr12 GH12I054140 54140452 54142890 0.86 [{'connected_gene': 'SMUG1-AS1', 'score': 550.77}, {'connected_gene': 'FLJ12825', 'score': 37.52}, {'connected_gene': 'SMUG1', 'score': 19.34}, {'connected_gene': 'HOXC5', 'score': 11.16}, {'connected_gene': 'MIR196A2', 'score': 11.15}, {'connected_gene': 'HOXC6', 'score': 11.14}, {'connected_gene': 'HOXC-AS3', 'score': 11.14}, {'connected_gene': 'HOXC10', 'score': 11.14}, {'connected_gene': 'MIR615', 'score': 11.06}, {'connected_gene': 'HOXC4', 'score': 11.04}, {'connected_gene': 'HOXC8', 'score': 10.8}, {'connected_gene': 'HOXC9', 'score': 10.79}, {'connected_gene': 'HOXC-AS2', 'score': 10.79}, {'connected_gene': 'HOXC-AS1', 'score': 10.79}, {'connected_gene': 'HOTAIR', 'score': 10.62}, {'connected_gene': 'HOXC11', 'score': 10.62}, {'connected_gene': 'ENSG00000260470', 'score': 10.39}, {'connected_gene': 'ITGA5', 'score': 4.83}, {'connected_gene': 'LINC02381', 'score': 0.37}, {'connected_gene': 'GC12M054122', 'score': 0.28}]
chr12 GH12I053938 53938001 53941000 1.69 [{'connected_gene': 'HOXC13-AS', 'score': 556.19}, {'connected_gene': 'HOXC13', 'score': 550.77}, {'connected_gene': 'HNRNPA1', 'score': 15.35}, {'connected_gene': 'ZNF740', 'score': 15.06}, {'connected_gene': 'AAAS', 'score': 13.25}, {'connected_gene': 'ATF7', 'score': 12.86}, {'connected_gene': 'ENSG00000258344', 'score': 12.3}, {'connected_gene': 'CSAD', 'score': 11.97}, {'connected_gene': 'CBX5', 'score': 10.49}, {'connected_gene': 'PFDN5', 'score': 9.91}, {'connected_gene': 'ENSG00000257808', 'score': 9.87}, {'connected_gene': 'LOC100652999', 'score': 9.72}, {'connected_gene': 'HOTAIR', 'score': 4.9}]
chr12 GH12I053948 53948997 53949146 0.74 [{'connected_gene': 'HOXC13-AS', 'score': 6.85}, {'connected_gene': 'HOTAIR', 'score': 6.3}, {'connected_gene': 'GC12P053945', 'score': 0.77}, {'connected_gene': 'GC12P053956', 'score': 0.44}]
chr12 GH12I054079 54079004 54083573 1.44 [{'connected_gene': 'LOC100240734', 'score': 550.77}, {'connected_gene': 'LOC100240735', 'score': 550.77}, {'connected_gene': 'SMUG1', 'score': 17.78}, {'connected_gene': 'FLJ12825', 'score': 13.64}, {'connected_gene': 'CBX5', 'score': 10.88}, {'connected_gene': 'MIR615', 'score': 10.72}, {'connected_gene': 'HOXC5', 'score': 10.68}, {'connected_gene': 'HOXC4', 'score': 10.68}, {'connected_gene': 'HOXC6', 'score': 10.63}, {'connected_gene': 'HOXC8', 'score': 10.47}, {'connected_gene': 'HOXC-AS2', 'score': 10.45}, {'connected_gene': 'HOXC-AS1', 'score': 10.45}, {'connected_gene': 'HOXC9', 'score': 10.45}, {'connected_gene': 'HOTAIR', 'score': 10.37}, {'connected_gene': 'HOXC11', 'score': 10.37}, {'connected_gene': 'MAP3K12', 'score': 10.16}, {'connected_gene': 'MIR196A2', 'score': 10.07}, {'connected_gene': 'HOXC-AS3', 'score': 10.06}, {'connected_gene': 'HOXC10', 'score': 10.06}, {'connected_gene': 'GC12P054090', 'score': 0.77}]
chr12 GH12I053834 53834391 53834588 0.22 [{'connected_gene': 'GC12P053834', 'score': 550.77}, {'connected_gene': 'HOXC11', 'score': 10.37}, {'connected_gene': 'HOTAIR', 'score': 10.36}, {'connected_gene': 'ATP5MC2', 'score': 2.56}, {'connected_gene': 'GC12P053837', 'score': 0.77}]
chr12 GH12I054077 54077305 54078341 0.43 [{'connected_gene': 'GC12P054090', 'score': 550.77}, {'connected_gene': 'SMUG1', 'score': 16.54}, {'connected_gene': 'MIR615', 'score': 11.56}, {'connected_gene': 'HOXC5', 'score': 11.51}, {'connected_gene': 'HOXC4', 'score': 11.51}, {'connected_gene': 'HOXC6', 'score': 11.46}, {'connected_gene': 'LOC102724030', 'score': 11.42}, {'connected_gene': 'MIR196A2', 'score': 10.94}, {'connected_gene': 'HOXC-AS3', 'score': 10.93}, {'connected_gene': 'HOXC10', 'score': 10.93}, {'connected_gene': 'HOTAIR', 'score': 10.79}, {'connected_gene': 'HOXC11', 'score': 10.79}, {'connected_gene': 'HOXC8', 'score': 10.56}, {'connected_gene': 'HOXC-AS1', 'score': 10.43}, {'connected_gene': 'HOXC9', 'score': 10.43}, {'connected_gene': 'HOXC-AS2', 'score': 10.43}, {'connected_gene': 'FLJ12825', 'score': 5.74}, {'connected_gene': 'LOC100240735', 'score': 0.77}]
chr12 GH12I053768 53768782 53772130 0.57 [{'connected_gene': 'GC12M053768', 'score': 550.77}, {'connected_gene': 'HOXC-AS3', 'score': 10.46}, {'connected_gene': 'HOXC10', 'score': 10.46}, {'connected_gene': 'HOXC6', 'score': 10.46}, {'connected_gene': 'MIR196A2', 'score': 10.46}, {'connected_gene': 'HOXC5', 'score': 10.45}, {'connected_gene': 'HOXC-AS2', 'score': 10.25}, {'connected_gene': 'HOXC-AS1', 'score': 10.25}, {'connected_gene': 'HOXC9', 'score': 10.25}, {'connected_gene': 'HOXC8', 'score': 10.24}, {'connected_gene': 'HOTAIR', 'score': 9.84}, {'connected_gene': 'HOXC11', 'score': 9.84}, {'connected_gene': 'HOXC4', 'score': 9.47}, {'connected_gene': 'MIR615', 'score': 9.47}, {'connected_gene': 'CISTR', 'score': 4.95}, {'connected_gene': 'RN7SKP289', 'score': 0.25}]
chr12 GH12I053962 53962947 53970409 1.13 [{'connected_gene': 'ENSG00000277994', 'score': 550.77}, {'connected_gene': 'ENSG00000277129', 'score': 550.77}, {'connected_gene': 'ENSG00000274817', 'score': 550.77}, {'connected_gene': 'HOTAIR', 'score': 23.9}, {'connected_gene': 'MAP3K12', 'score': 16.82}, {'connected_gene': 'HOXC6', 'score': 12.62}, {'connected_gene': 'MIR196A2', 'score': 12.59}, {'connected_gene': 'HOXC5', 'score': 12.51}, {'connected_gene': 'HOXC13', 'score': 11.84}, {'connected_gene': 'HOXC13-AS', 'score': 11.84}, {'connected_gene': 'HOXC9', 'score': 11.74}, {'connected_gene': 'HOXC-AS2', 'score': 11.72}, {'connected_gene': 'HOXC-AS1', 'score': 11.72}, {'connected_gene': 'HOXC8', 'score': 11.69}, {'connected_gene': 'HOXC4', 'score': 11.44}, {'connected_gene': 'AAAS', 'score': 11.16}, {'connected_gene': 'SOAT2', 'score': 4.49}, {'connected_gene': 'ENSG00000275589', 'score': 0.77}]

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