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
ENST00000569739 [[2028917, 2029350], [2029425, 2029645]] None
ENST00000356120 [[2028917, 2029350], [2029425, 2029543], [2029790, 2029904], [2029997, 2030182], [2030367, 2030545], [2030656, 2030732], [2030939, 2031020], [2031114, 2031468]] [[2029052, 2029350], [2029425, 2029543], [2029790, 2029904], [2029997, 2030182], [2030367, 2030545], [2030656, 2030732], [2030939, 2031020], [2031114, 2031180]]
ENST00000354249 [[2028917, 2029350], [2029425, 2029543], [2029790, 2029904], [2029997, 2030182], [2030367, 2030545], [2030656, 2030729], [2030939, 2031020], [2031114, 2031550]] [[2029052, 2029350], [2029425, 2029543], [2029790, 2029904], [2029997, 2030182], [2030367, 2030545], [2030656, 2030729], [2030939, 2031020], [2031114, 2031180]]
ENST00000397280 [[2029040, 2029350], [2029425, 2029543], [2029790, 2029904], [2029997, 2030182], [2030367, 2030545], [2030641, 2030732], [2030939, 2031020], [2031114, 2031184]] [[2029052, 2029350], [2029425, 2029543], [2029790, 2029904], [2029997, 2030182], [2030367, 2030545], [2030641, 2030732], [2030939, 2031020], [2031114, 2031180]]
ENST00000566005 [[2029040, 2029350], [2029425, 2029543], [2029790, 2029904], [2029997, 2030182], [2030367, 2030545], [2030641, 2030729], [2030939, 2031020], [2031114, 2031184]] [[2029052, 2029350], [2029425, 2029543], [2029790, 2029904], [2029997, 2030182], [2030367, 2030545], [2030641, 2030729], [2030939, 2031020], [2031114, 2031180]]
ENST00000563181 [[2030060, 2030182], [2030367, 2031020], [2031114, 2031445]] None
ENST00000567471 [[2030540, 2030545], [2030656, 2030732], [2030939, 2031020], [2031114, 2031416], [2032660, 2032752], [2034167, 2034193]] [[2030540, 2030545], [2030656, 2030732], [2030939, 2031020], [2031114, 2031180]]
NM_172168 [[2028917, 2029350], [2029425, 2029543], [2029790, 2029904], [2029997, 2030182], [2030367, 2030545], [2030641, 2030732], [2030939, 2031020], [2031114, 2031550]] [[2029052, 2029350], [2029425, 2029543], [2029790, 2029904], [2029997, 2030182], [2030367, 2030545], [2030641, 2030732], [2030939, 2031020], [2031114, 2031180]]
NM_172167 [[2028917, 2029350], [2029425, 2029543], [2029790, 2029904], [2029997, 2030182], [2030367, 2030545], [2030656, 2030732], [2030939, 2031020], [2031114, 2031550]] [[2029052, 2029350], [2029425, 2029543], [2029790, 2029904], [2029997, 2030182], [2030367, 2030545], [2030656, 2030732], [2030939, 2031020], [2031114, 2031180]]
NM_001267721 [[2028917, 2029350], [2029425, 2029543], [2029790, 2029904], [2029997, 2030182], [2030367, 2030545], [2030641, 2030729], [2030939, 2031020], [2031114, 2031550]] [[2029052, 2029350], [2029425, 2029543], [2029790, 2029904], [2029997, 2030182], [2030367, 2030545], [2030641, 2030729], [2030939, 2031020], [2031114, 2031180]]
NM_144603 [[2028917, 2029350], [2029425, 2029543], [2029790, 2029904], [2029997, 2030182], [2030367, 2030545], [2030656, 2030729], [2030939, 2031020], [2031114, 2031550]] [[2029052, 2029350], [2029425, 2029543], [2029790, 2029904], [2029997, 2030182], [2030367, 2030545], [2030656, 2030729], [2030939, 2031020], [2031114, 2031180]]
Promoter
Chrom Start End Description
chr16 2031433 2031447 CAGE_peak_2_at_NOXO1_5end
chr16 2031464 2031475 CAGE_peak_1_at_NOXO1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I001990 1989460 1989469 0.72 [{'connected_gene': 'SYNGR3', 'score': 550.77}, {'connected_gene': 'ENSG00000261790', 'score': 550.77}, {'connected_gene': 'NOXO1', 'score': 0.44}]
chr16 GH16I001982 1982829 1986144 2.24 [{'connected_gene': 'GFER', 'score': 563.94}, {'connected_gene': 'NOXO1', 'score': 550.77}, {'connected_gene': 'ENSG00000255513', 'score': 18.63}, {'connected_gene': 'ENSG00000261505', 'score': 14.77}, {'connected_gene': 'SRRM2', 'score': 13.26}, {'connected_gene': 'LOC105371055', 'score': 12.95}, {'connected_gene': 'UBE2I', 'score': 11.86}, {'connected_gene': 'ENSG00000260954', 'score': 11.49}, {'connected_gene': 'TRAF7', 'score': 10.62}, {'connected_gene': 'ENSG00000260051', 'score': 10.61}, {'connected_gene': 'TBL3', 'score': 10.6}, {'connected_gene': 'SNORD60', 'score': 10.41}, {'connected_gene': 'ZNF598', 'score': 10.36}, {'connected_gene': 'SNORA64', 'score': 10.3}, {'connected_gene': 'SNHG19', 'score': 10.2}, {'connected_gene': 'AMDHD2', 'score': 9.77}, {'connected_gene': 'NPW', 'score': 8.38}, {'connected_gene': 'SYNGR3', 'score': 5.69}, {'connected_gene': 'ENSG00000261790', 'score': 0.44}]
chr16 GH16I001981 1981961 1982475 0.72 [{'connected_gene': 'GFER', 'score': 559.07}, {'connected_gene': 'NOXO1', 'score': 550.77}, {'connected_gene': 'TBL3', 'score': 0.39}]
chr16 GH16I001976 1976847 1981767 1.59 [{'connected_gene': 'NOXO1', 'score': 550.77}, {'connected_gene': 'ENSG00000255513', 'score': 13.93}, {'connected_gene': 'RPL3L', 'score': 11.97}, {'connected_gene': 'MSRB1', 'score': 11.9}, {'connected_gene': 'GFER', 'score': 8.31}, {'connected_gene': 'TBL3', 'score': 0.44}]