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
ENST00000439977 [[56965959, 56966303], [56969146, 56969224], [56969312, 56969387], [56970598, 56970729], [56973148, 56973271], [56973806, 56974157], [56976043, 56976149], [56977037, 56977793]] [[56966156, 56966303], [56969146, 56969224], [56969312, 56969387], [56970598, 56970729], [56973148, 56973271], [56973806, 56974157], [56976043, 56976149], [56977037, 56977202]]
ENST00000562914 [[56966053, 56966303], [56969146, 56969466]] None
ENST00000568676 [[56966058, 56966303], [56969146, 56969224], [56969312, 56969560]] None
ENST00000569569 [[56966058, 56966303], [56969146, 56969224], [56969312, 56969387], [56970598, 56971325]] None
ENST00000565966 [[56966058, 56966303], [56969153, 56969224], [56969312, 56969387], [56970598, 56970729], [56973148, 56973271], [56973806, 56973959]] [[56966156, 56966303], [56969153, 56969168]]
ENST00000344114 [[56966058, 56966303], [56969146, 56969224], [56969315, 56969387], [56970598, 56970729], [56976043, 56976149], [56977037, 56977793]] [[56966156, 56966303], [56969146, 56969224], [56969315, 56969387], [56970598, 56970729], [56976043, 56976149], [56977037, 56977202]]
ENST00000300302 [[56966058, 56966303], [56969146, 56969224], [56969315, 56969387], [56970598, 56970729], [56973148, 56973271], [56973806, 56974157], [56976043, 56976149], [56977037, 56977793]] [[56966156, 56966303], [56969146, 56969224], [56969315, 56969387], [56970598, 56970729], [56973148, 56973271], [56973806, 56974157], [56976043, 56976149], [56977037, 56977202]]
ENST00000570273 [[56966059, 56966303], [56969146, 56969224], [56969312, 56969387], [56970598, 56970729], [56973148, 56973271], [56973806, 56974000], [56976043, 56976149], [56977037, 56977511]] None
ENST00000379792 [[56966071, 56966303], [56969146, 56969224], [56970598, 56970729], [56973148, 56973271], [56973806, 56974157], [56976043, 56976149], [56977037, 56977798]] [[56966156, 56966303], [56969146, 56969224], [56970598, 56970729], [56973148, 56973271], [56973806, 56974157], [56976043, 56976149], [56977037, 56977202]]
ENST00000569429 [[56967095, 56967227], [56969146, 56969224], [56970598, 56970729], [56973148, 56973271], [56973806, 56973904]] [[56967206, 56967227], [56969146, 56969224], [56970598, 56970729], [56973148, 56973271], [56973806, 56973904]]
ENST00000563343 [[56967119, 56967227], [56969146, 56969224], [56969312, 56969387], [56970598, 56970729], [56973148, 56973271], [56973806, 56973858]] [[56967206, 56967227], [56969146, 56969224], [56969312, 56969387], [56970598, 56970729], [56973148, 56973271], [56973806, 56973858]]
ENST00000566550 [[56968876, 56969224], [56969312, 56969475]] None
ENST00000563781 [[56969289, 56969387], [56970598, 56970729], [56973148, 56973271], [56973806, 56974157], [56976043, 56976114]] None
ENST00000568358 [[56969313, 56969387], [56970598, 56970729], [56973148, 56973271], [56977037, 56977460]] [[56969313, 56969387], [56970598, 56970729], [56973148, 56973271], [56977037, 56977038]]
ENST00000564678 [[56969862, 56970729], [56973148, 56973271], [56973806, 56974157], [56976043, 56976149], [56977037, 56977789]] None
ENST00000563911 [[56970635, 56970729], [56973806, 56974157], [56976043, 56976149], [56977176, 56977469]] [[56970635, 56970729], [56973806, 56974157], [56976043, 56976149], [56977176, 56977305]]
ENST00000567944 [[56973055, 56973271], [56973806, 56974025]] None
ENST00000568651 [[56973160, 56973271], [56974088, 56974157], [56976043, 56976149], [56977037, 56977209]] [[56973160, 56973271], [56974088, 56974157], [56976043, 56976149], [56977037, 56977202]]
ENST00000568814 [[56975922, 56976149], [56977037, 56977319]] None
NM_001010989 [[56966001, 56966303], [56969146, 56969224], [56969315, 56969387], [56970598, 56970729], [56973148, 56973271], [56973806, 56974157], [56976043, 56976149], [56977037, 56977793]] [[56966156, 56966303], [56969146, 56969224], [56969315, 56969387], [56970598, 56970729], [56973148, 56973271], [56973806, 56974157], [56976043, 56976149], [56977037, 56977202]]
NM_001272103 [[56966001, 56966303], [56969146, 56969224], [56969312, 56969387], [56970598, 56970729], [56973148, 56973271], [56973806, 56974000], [56976043, 56976149], [56977037, 56977793]] [[56966156, 56966303], [56969146, 56969224], [56969312, 56969387], [56970598, 56970729], [56973148, 56973271], [56973806, 56974000], [56976043, 56976123]]
NM_014685 [[56966001, 56966303], [56969146, 56969224], [56969312, 56969387], [56970598, 56970729], [56973148, 56973271], [56973806, 56974157], [56976043, 56976149], [56977037, 56977793]] [[56966156, 56966303], [56969146, 56969224], [56969312, 56969387], [56970598, 56970729], [56973148, 56973271], [56973806, 56974157], [56976043, 56976149], [56977037, 56977202]]
Promoter
Chrom Start End Description
chr16 56966047 56966066 CAGE_peak_1_at_HERPUD1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I056930 56930491 56940546 2.32 [{'connected_gene': 'HERPUD1', 'score': 559.75}, {'connected_gene': 'RSPRY1', 'score': 58.79}, {'connected_gene': 'NUDT21', 'score': 40.3}, {'connected_gene': 'NUP93', 'score': 36.46}, {'connected_gene': 'POLR2C', 'score': 21.24}, {'connected_gene': 'CETP', 'score': 11.83}, {'connected_gene': 'SLC12A3', 'score': 11.45}, {'connected_gene': 'LOC105371286', 'score': 11.14}, {'connected_gene': 'ENSG00000261270', 'score': 11.1}, {'connected_gene': 'NLRC5', 'score': 10.96}, {'connected_gene': 'ENSG00000272372', 'score': 10.75}, {'connected_gene': 'ARL2BP', 'score': 10.1}, {'connected_gene': 'FAM192A', 'score': 9.51}]
chr16 GH16I056871 56871200 56871601 0.96 [{'connected_gene': 'HERPUD1', 'score': 11.68}, {'connected_gene': 'SLC12A3', 'score': 0.44}, {'connected_gene': 'MIR6863', 'score': 0.29}]
chr16 GH16I056874 56874298 56875737 0.56 [{'connected_gene': 'HERPUD1', 'score': 11.69}, {'connected_gene': 'MT1X', 'score': 10.14}, {'connected_gene': 'MT1G', 'score': 9.8}, {'connected_gene': 'MT1H', 'score': 9.8}, {'connected_gene': 'MT1F', 'score': 9.46}, {'connected_gene': 'SLC12A3', 'score': 0.44}, {'connected_gene': 'MIR6863', 'score': 0.31}]
chr16 GH16I056869 56869600 56870285 1.04 [{'connected_gene': 'HERPUD1', 'score': 11.68}, {'connected_gene': 'MT1G', 'score': 9.8}, {'connected_gene': 'MT1H', 'score': 9.8}, {'connected_gene': 'SLC12A3', 'score': 0.77}, {'connected_gene': 'MIR6863', 'score': 0.29}]
chr16 GH16I056914 56914512 56920080 1.67 [{'connected_gene': 'HERPUD1', 'score': 11.72}, {'connected_gene': 'MIR138-2', 'score': 11.44}, {'connected_gene': 'ENSG00000261270', 'score': 9.41}, {'connected_gene': 'MT1X', 'score': 4.66}, {'connected_gene': 'NLRC5', 'score': 1.74}, {'connected_gene': 'RPS24P17', 'score': 0.39}, {'connected_gene': 'SLC12A3', 'score': 0.23}]
chr16 GH16I056899 56899009 56899158 0.69 [{'connected_gene': 'HERPUD1', 'score': 12.06}, {'connected_gene': 'MIR138-2', 'score': 10.82}, {'connected_gene': 'MT1H', 'score': 9.72}, {'connected_gene': 'MT1G', 'score': 9.72}, {'connected_gene': 'MIR6863', 'score': 0.44}, {'connected_gene': 'SLC12A3', 'score': 0.29}]
chr16 GH16I056908 56908642 56914098 1.54 [{'connected_gene': 'HERPUD1', 'score': 23.57}, {'connected_gene': 'MIR138-2', 'score': 10.47}, {'connected_gene': 'MT1G', 'score': 10.1}, {'connected_gene': 'MT1H', 'score': 10.1}, {'connected_gene': 'ENSG00000261270', 'score': 6.09}, {'connected_gene': 'NLRC5', 'score': 1.75}, {'connected_gene': 'RPS24P17', 'score': 0.77}, {'connected_gene': 'SLC12A3', 'score': 0.25}]
chr16 GH16I056924 56924649 56924758 0.2 [{'connected_gene': 'HERPUD1', 'score': 0.44}, {'connected_gene': 'RPS24P17', 'score': 0.37}]
chr16 GH16I056921 56921669 56921818 0.31 [{'connected_gene': 'HERPUD1', 'score': 0.39}, {'connected_gene': 'RPS24P17', 'score': 0.37}]
chr16 GH16I056964 56964149 56966639 1.22 [{'connected_gene': 'RSPRY1', 'score': 98.79}, {'connected_gene': 'NLRC5', 'score': 39.87}, {'connected_gene': 'NUDT21', 'score': 24.9}, {'connected_gene': 'POLR2C', 'score': 18.23}, {'connected_gene': 'HERPUD1', 'score': 11.4}, {'connected_gene': 'LOC105371286', 'score': 10.83}, {'connected_gene': 'FAM192A', 'score': 10.2}, {'connected_gene': 'BBS2', 'score': 10.12}, {'connected_gene': 'CETP', 'score': 0.77}, {'connected_gene': 'GC16M056955', 'score': 0.77}, {'connected_gene': 'GC16M056973', 'score': 0.39}]
chr16 GH16I056971 56971024 56971887 0.75 [{'connected_gene': 'NLRC5', 'score': 23.63}, {'connected_gene': 'HERPUD1', 'score': 11.38}, {'connected_gene': 'FAM192A', 'score': 10.2}, {'connected_gene': 'RSPRY1', 'score': 10.2}, {'connected_gene': 'GC16M056973', 'score': 0.77}, {'connected_gene': 'CETP', 'score': 0.44}, {'connected_gene': 'GC16M056955', 'score': 0.44}]
chr16 GH16I057049 57049863 57050623 0.74 [{'connected_gene': 'NLRC5', 'score': 15.58}, {'connected_gene': 'RSPRY1', 'score': 12.19}, {'connected_gene': 'HERPUD1', 'score': 10.43}, {'connected_gene': 'NUDT21', 'score': 10.14}, {'connected_gene': 'POLR2C', 'score': 10.09}, {'connected_gene': 'MIR138-2', 'score': 9.75}, {'connected_gene': 'GC16P057053', 'score': 0.77}, {'connected_gene': 'GC16P057038', 'score': 0.39}]
chr16 GH16I056604 56604775 56615536 2.79 [{'connected_gene': 'MT2A', 'score': 553.69}, {'connected_gene': 'ENSG00000260823', 'score': 550.77}, {'connected_gene': 'GC16P056608', 'score': 550.77}, {'connected_gene': 'GC16P056609', 'score': 550.77}, {'connected_gene': 'RSPRY1', 'score': 24.6}, {'connected_gene': 'POLR2C', 'score': 19.13}, {'connected_gene': 'BBS2', 'score': 17.36}, {'connected_gene': 'MT1A', 'score': 15.36}, {'connected_gene': 'MT1F', 'score': 11.87}, {'connected_gene': 'MT1G', 'score': 11.53}, {'connected_gene': 'MT1H', 'score': 11.53}, {'connected_gene': 'MT3', 'score': 11.52}, {'connected_gene': 'MT1DP', 'score': 11.48}, {'connected_gene': 'MT1CP', 'score': 11.46}, {'connected_gene': 'MT1B', 'score': 11.3}, {'connected_gene': 'MT1X', 'score': 10.91}, {'connected_gene': 'NUP93', 'score': 10.64}, {'connected_gene': 'MIR138-2', 'score': 9.93}, {'connected_gene': 'MT1E', 'score': 9.44}, {'connected_gene': 'MT4', 'score': 8.48}, {'connected_gene': 'MT1L', 'score': 8.32}, {'connected_gene': 'DOK4', 'score': 5.44}, {'connected_gene': 'HMGB3P32', 'score': 4.98}, {'connected_gene': 'NLRC5', 'score': 4.83}, {'connected_gene': 'MT1M', 'score': 3.78}, {'connected_gene': 'HERPUD1', 'score': 2.48}]
chr16 GH16I056800 56800344 56800953 0.69 [{'connected_gene': 'MIR138-2', 'score': 11.42}, {'connected_gene': 'SLC12A3', 'score': 11.0}, {'connected_gene': 'NUP93', 'score': 10.82}, {'connected_gene': 'MT1G', 'score': 10.64}, {'connected_gene': 'MT1H', 'score': 10.64}, {'connected_gene': 'MT1X', 'score': 10.26}, {'connected_gene': 'MT1B', 'score': 10.17}, {'connected_gene': 'NLRC5', 'score': 10.0}, {'connected_gene': 'BBS2', 'score': 9.98}, {'connected_gene': 'HERPUD1', 'score': 9.88}, {'connected_gene': 'MT1F', 'score': 9.34}, {'connected_gene': 'GC16P056858', 'score': 0.22}]
chr16 GH16I056961 56961401 56962794 0.9 [{'connected_gene': 'CETP', 'score': 550.77}, {'connected_gene': 'GC16M056955', 'score': 550.77}, {'connected_gene': 'NLRC5', 'score': 33.22}, {'connected_gene': 'HERPUD1', 'score': 12.07}]
chr16 GH16I056922 56922029 56922775 0.85 [{'connected_gene': 'ENSG00000261270', 'score': 6.71}, {'connected_gene': 'HERPUD1', 'score': 0.44}, {'connected_gene': 'RPS24P17', 'score': 0.37}]
chr16 GH16I056943 56943149 56943298 0.63 [{'connected_gene': 'ENSG00000261114', 'score': 0.77}, {'connected_gene': 'HERPUD1', 'score': 0.39}, {'connected_gene': 'GC16M056953', 'score': 0.37}]
chr16 GH16I056944 56944797 56946433 0.8 [{'connected_gene': 'ENSG00000261270', 'score': 11.26}, {'connected_gene': 'ENSG00000261114', 'score': 0.77}, {'connected_gene': 'HERPUD1', 'score': 0.39}, {'connected_gene': 'GC16M056953', 'score': 0.39}]
chr16 GH16I056941 56941912 56942417 0.83 [{'connected_gene': 'ENSG00000261270', 'score': 550.77}, {'connected_gene': 'ENSG00000261114', 'score': 550.77}, {'connected_gene': 'HERPUD1', 'score': 0.39}, {'connected_gene': 'GC16M056953', 'score': 0.37}]
chr16 GH16I057052 57052481 57053395 0.38 [{'connected_gene': 'GC16P057053', 'score': 550.77}, {'connected_gene': 'NLRC5', 'score': 18.7}, {'connected_gene': 'HERPUD1', 'score': 10.43}, {'connected_gene': 'MIR138-2', 'score': 9.75}, {'connected_gene': 'ENSG00000260145', 'score': 0.44}, {'connected_gene': 'GC16P057038', 'score': 0.39}]
chr16 GH16I057050 57050971 57052341 0.46 [{'connected_gene': 'GC16P057053', 'score': 550.77}, {'connected_gene': 'NLRC5', 'score': 18.13}, {'connected_gene': 'HERPUD1', 'score': 10.43}, {'connected_gene': 'MIR138-2', 'score': 9.75}, {'connected_gene': 'GC16P057038', 'score': 0.39}]
chr16 GH16I057013 57013012 57016162 1.43 [{'connected_gene': 'GC16M057013', 'score': 550.77}, {'connected_gene': 'LOC100130044', 'score': 550.77}, {'connected_gene': 'NLRC5', 'score': 13.51}, {'connected_gene': 'HERPUD1', 'score': 1.43}, {'connected_gene': 'GC16P057038', 'score': 0.34}]

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