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
ENST00000451137 [[86046443, 86046730], [86047047, 86047261], [86047610, 86047967], [86048098, 86048307], [86048422, 86049645]] [[86046667, 86046730], [86047047, 86047261], [86047610, 86047967], [86048098, 86048307], [86048422, 86048725]]
ENST00000480413 [[86046882, 86047261], [86047610, 86047782]] None
NM_001554 [[86046443, 86046730], [86047047, 86047261], [86047610, 86047967], [86048098, 86048307], [86048422, 86049650]] [[86046667, 86046730], [86047047, 86047261], [86047610, 86047967], [86048098, 86048307], [86048422, 86048725]]
Promoter
Chrom Start End Description
chr1 86046433 86046453 CAGE_peak_1_at_CYR61_5end
chr1 86047023 86047087 CAGE_peak_3_at_CYR61_5end
chr1 86047201 86047223 CAGE_peak_2_at_CYR61_5end
chr1 86048594 86048615 CAGE_peak_10_at_CYR61_5end
chr1 86048713 86048750 CAGE_peak_4_at_CYR61_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I085706 85706796 85709617 2.07 [{'connected_gene': 'ZNHIT6', 'score': 572.52}, {'connected_gene': 'ODF2L', 'score': 12.28}, {'connected_gene': 'DDAH1', 'score': 10.04}, {'connected_gene': 'CYR61', 'score': 10.04}, {'connected_gene': 'PIR53460', 'score': 0.23}]
chr1 GH01I085520 85520315 85527887 1.66 [{'connected_gene': 'ZNHIT6', 'score': 28.84}, {'connected_gene': 'CYR61', 'score': 13.18}, {'connected_gene': 'DDAH1', 'score': 12.12}, {'connected_gene': 'C1orf52', 'score': 10.87}, {'connected_gene': 'ENSG00000282057', 'score': 0.23}, {'connected_gene': 'ENSG00000273264', 'score': 0.22}]
chr1 GH01I085616 85616932 85618576 0.4 [{'connected_gene': 'ZNHIT6', 'score': 15.27}, {'connected_gene': 'ENSG00000199934', 'score': 12.27}, {'connected_gene': 'DDAH1', 'score': 11.78}, {'connected_gene': 'CYR61', 'score': 11.78}, {'connected_gene': 'GC01P085628', 'score': 0.39}, {'connected_gene': 'ENSG00000230285', 'score': 0.37}]
chr1 GH01I085631 85631066 85632993 0.2 [{'connected_gene': 'ZNHIT6', 'score': 16.85}, {'connected_gene': 'DDAH1', 'score': 10.93}, {'connected_gene': 'CYR61', 'score': 10.93}, {'connected_gene': 'GC01P085628', 'score': 0.77}, {'connected_gene': 'PIR53460', 'score': 0.34}]
chr1 GH01I085680 85680908 85681907 0.79 [{'connected_gene': 'ZNHIT6', 'score': 17.34}, {'connected_gene': 'DDAH1', 'score': 10.56}, {'connected_gene': 'CYR61', 'score': 10.56}, {'connected_gene': 'PIR53460', 'score': 0.31}]
chr1 GH01I085604 85604570 85614535 1.65 [{'connected_gene': 'CYR61', 'score': 17.74}, {'connected_gene': 'ZNHIT6', 'score': 16.16}, {'connected_gene': 'DDAH1', 'score': 14.68}, {'connected_gene': 'ODF2L', 'score': 11.33}, {'connected_gene': 'ENSG00000230285', 'score': 0.39}, {'connected_gene': 'GC01P085628', 'score': 0.37}]
chr1 GH01I085296 85296749 85299840 1.43 [{'connected_gene': 'DDAH1', 'score': 20.88}, {'connected_gene': 'BCL10', 'score': 16.41}, {'connected_gene': 'C1orf52', 'score': 13.65}, {'connected_gene': 'LOC646626', 'score': 11.69}, {'connected_gene': 'CYR61', 'score': 10.54}, {'connected_gene': 'GC01P085392', 'score': 0.16}]
chr1 GH01I085459 85459392 85466468 2.18 [{'connected_gene': 'DDAH1', 'score': 579.73}, {'connected_gene': 'ODF2L', 'score': 11.47}, {'connected_gene': 'CYR61', 'score': 10.18}, {'connected_gene': 'ENSG00000273264', 'score': 0.77}, {'connected_gene': 'GC01M085455', 'score': 0.44}]
chr1 GH01I085313 85313168 85317183 1.4 [{'connected_gene': 'DDAH1', 'score': 27.87}, {'connected_gene': 'CYR61', 'score': 10.64}, {'connected_gene': 'BCL10', 'score': 5.19}, {'connected_gene': 'LOC646626', 'score': 0.28}, {'connected_gene': 'GC01P085392', 'score': 0.18}]
chr1 GH01I085310 85310547 85312809 0.31 [{'connected_gene': 'DDAH1', 'score': 24.74}, {'connected_gene': 'CYR61', 'score': 11.61}, {'connected_gene': 'BCL10', 'score': 6.24}, {'connected_gene': 'LOC646626', 'score': 0.28}, {'connected_gene': 'GC01P085392', 'score': 0.18}]
chr1 GH01I085325 85325475 85333290 1.69 [{'connected_gene': 'DDAH1', 'score': 17.03}, {'connected_gene': 'CYR61', 'score': 3.7}, {'connected_gene': 'LOC646626', 'score': 0.23}, {'connected_gene': 'BCL10', 'score': 0.23}, {'connected_gene': 'GC01P085392', 'score': 0.21}]
chr1 GH01I085294 85294441 85296221 0.63 [{'connected_gene': 'DDAH1', 'score': 20.67}, {'connected_gene': 'CYR61', 'score': 10.54}, {'connected_gene': 'LOC646626', 'score': 0.37}, {'connected_gene': 'BCL10', 'score': 0.37}, {'connected_gene': 'GC01P085392', 'score': 0.15}]
chr1 GH01I085307 85307578 85309332 1.29 [{'connected_gene': 'DDAH1', 'score': 16.92}, {'connected_gene': 'CYR61', 'score': 11.61}, {'connected_gene': 'LOC646626', 'score': 0.29}, {'connected_gene': 'BCL10', 'score': 0.29}, {'connected_gene': 'GC01P085392', 'score': 0.18}]
chr1 GH01I085289 85289146 85291697 1.12 [{'connected_gene': 'DDAH1', 'score': 18.77}, {'connected_gene': 'CYR61', 'score': 10.16}, {'connected_gene': 'LOC646626', 'score': 7.32}, {'connected_gene': 'BCL10', 'score': 0.39}, {'connected_gene': 'GC01P085392', 'score': 0.15}]
chr1 GH01I085575 85575118 85586483 2.55 [{'connected_gene': 'DDAH1', 'score': 550.77}, {'connected_gene': 'CYR61', 'score': 550.77}, {'connected_gene': 'ODF2L', 'score': 27.9}, {'connected_gene': 'ZNHIT6', 'score': 24.68}, {'connected_gene': 'C1orf52', 'score': 11.52}, {'connected_gene': 'BCL10', 'score': 9.8}, {'connected_gene': 'ENSG00000282057', 'score': 0.77}, {'connected_gene': 'ENSG00000272691', 'score': 0.77}, {'connected_gene': 'GC01P085583', 'score': 0.77}]
chr1 GH01I085550 85550280 85552069 0.83 [{'connected_gene': 'DDAH1', 'score': 11.23}, {'connected_gene': 'CYR61', 'score': 11.23}, {'connected_gene': 'ZNHIT6', 'score': 4.34}, {'connected_gene': 'ENSG00000282057', 'score': 0.31}, {'connected_gene': 'ENSG00000273264', 'score': 0.18}]
chr1 GH01I085544 85544118 85545999 1.04 [{'connected_gene': 'DDAH1', 'score': 11.16}, {'connected_gene': 'CYR61', 'score': 11.14}, {'connected_gene': 'ZNHIT6', 'score': 5.33}, {'connected_gene': 'ENSG00000282057', 'score': 0.29}, {'connected_gene': 'ENSG00000273264', 'score': 0.18}]
chr1 GH01I085493 85493943 85498336 1.09 [{'connected_gene': 'DDAH1', 'score': 10.68}, {'connected_gene': 'CYR61', 'score': 10.68}, {'connected_gene': 'ZNHIT6', 'score': 4.3}, {'connected_gene': 'ENSG00000273264', 'score': 0.31}, {'connected_gene': 'ENSG00000282057', 'score': 0.18}]
chr1 GH01I085472 85472348 85475087 0.54 [{'connected_gene': 'DDAH1', 'score': 25.76}, {'connected_gene': 'CYR61', 'score': 10.79}, {'connected_gene': 'MCOLN2', 'score': 4.24}, {'connected_gene': 'ENSG00000273264', 'score': 0.44}, {'connected_gene': 'ENSG00000282057', 'score': 0.15}]
chr1 GH01I085501 85501798 85503547 1.21 [{'connected_gene': 'DDAH1', 'score': 11.2}, {'connected_gene': 'CYR61', 'score': 11.09}, {'connected_gene': 'ENSG00000273264', 'score': 0.28}, {'connected_gene': 'ENSG00000282057', 'score': 0.18}]
chr1 GH01I085528 85528215 85533089 0.56 [{'connected_gene': 'DDAH1', 'score': 10.57}, {'connected_gene': 'CYR61', 'score': 10.56}, {'connected_gene': 'ENSG00000282057', 'score': 0.25}, {'connected_gene': 'ENSG00000273264', 'score': 0.21}]
chr1 GH01I085505 85505110 85506937 0.2 [{'connected_gene': 'DDAH1', 'score': 10.21}, {'connected_gene': 'CYR61', 'score': 10.21}, {'connected_gene': 'ENSG00000273264', 'score': 0.28}, {'connected_gene': 'ENSG00000282057', 'score': 0.19}]
chr1 GH01I085503 85503701 85505066 0.52 [{'connected_gene': 'DDAH1', 'score': 9.91}, {'connected_gene': 'CYR61', 'score': 9.9}, {'connected_gene': 'ENSG00000273264', 'score': 0.28}, {'connected_gene': 'ENSG00000282057', 'score': 0.19}]
chr1 GH01I085625 85625866 85625875 0.22 [{'connected_gene': 'DDAH1', 'score': 10.48}, {'connected_gene': 'CYR61', 'score': 10.48}, {'connected_gene': 'GC01P085628', 'score': 0.77}, {'connected_gene': 'ENSG00000230285', 'score': 0.31}]
chr1 GH01I085450 85450480 85451890 0.38 [{'connected_gene': 'DDAH1', 'score': 11.12}, {'connected_gene': 'CYR61', 'score': 11.12}, {'connected_gene': 'GC01M085455', 'score': 0.44}, {'connected_gene': 'GC01M085436', 'score': 0.37}, {'connected_gene': 'ENSG00000199459', 'score': 0.37}]
chr1 GH01I085337 85337787 85345678 1.32 [{'connected_gene': 'DDAH1', 'score': 27.81}, {'connected_gene': 'C1orf52', 'score': 13.55}, {'connected_gene': 'CYR61', 'score': 10.42}, {'connected_gene': 'BCL10', 'score': 5.13}, {'connected_gene': 'GC01P085392', 'score': 0.23}, {'connected_gene': 'LOC646626', 'score': 0.2}]
chr1 GH01I085654 85654638 85654667 0.38 [{'connected_gene': 'PIR53460', 'score': 550.77}, {'connected_gene': 'CYR61', 'score': 10.53}, {'connected_gene': 'DDAH1', 'score': 10.52}, {'connected_gene': 'ENSG00000199934', 'score': 10.49}, {'connected_gene': 'ZNHIT6', 'score': 0.23}]
chr1 GH01I085627 85627382 85630908 1.28 [{'connected_gene': 'GC01P085628', 'score': 550.77}, {'connected_gene': 'ENSG00000199934', 'score': 11.91}, {'connected_gene': 'CYR61', 'score': 11.43}, {'connected_gene': 'DDAH1', 'score': 11.42}, {'connected_gene': 'ZNHIT6', 'score': 8.87}, {'connected_gene': 'PIR53460', 'score': 0.34}]
chr1 GH01I085622 85622113 85623866 0.88 [{'connected_gene': 'ENSG00000199934', 'score': 11.29}, {'connected_gene': 'DDAH1', 'score': 10.93}, {'connected_gene': 'CYR61', 'score': 10.93}, {'connected_gene': 'ZNHIT6', 'score': 8.7}, {'connected_gene': 'GC01P085628', 'score': 0.44}, {'connected_gene': 'ENSG00000230285', 'score': 0.34}]
chr1 GH01I085553 85553055 85554217 0.6 [{'connected_gene': 'ENSG00000199934', 'score': 11.79}, {'connected_gene': 'DDAH1', 'score': 11.3}, {'connected_gene': 'CYR61', 'score': 11.27}, {'connected_gene': 'ZNHIT6', 'score': 4.67}, {'connected_gene': 'ENSG00000282057', 'score': 0.34}, {'connected_gene': 'ENSG00000273264', 'score': 0.17}]
chr1 GH01I085554 85554365 85556888 0.89 [{'connected_gene': 'ENSG00000199934', 'score': 11.79}, {'connected_gene': 'DDAH1', 'score': 11.3}, {'connected_gene': 'CYR61', 'score': 11.27}, {'connected_gene': 'ENSG00000282057', 'score': 0.34}, {'connected_gene': 'ENSG00000273264', 'score': 0.17}]