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
ENST00000431532 [[86115105, 86119781], [86123529, 86123654], [86142918, 86142996], [86144383, 86144464], [86146518, 86146587], [86167839, 86167943], [86171760, 86171846], [86171931, 86172038], [86172124, 86172190], [86173311, 86173619], [86173736, 86174116]] [[86119740, 86119781], [86123529, 86123654], [86142918, 86142996], [86144383, 86144464], [86146518, 86146587], [86167839, 86167943], [86171760, 86171846], [86171931, 86172038], [86172124, 86172190], [86173311, 86173619], [86173736, 86173967]]
ENST00000370574 [[86118490, 86119781], [86123529, 86123654], [86142918, 86142996], [86144383, 86144464], [86146518, 86146587], [86167839, 86167943], [86171760, 86171846], [86171931, 86172038], [86172124, 86172190], [86173311, 86174101]] [[86119740, 86119781], [86123529, 86123654], [86142918, 86142996], [86144383, 86144464], [86146518, 86146587], [86167839, 86167943], [86171760, 86171846], [86171931, 86172038], [86172124, 86172190], [86173311, 86173967]]
NM_017953 [[86115105, 86119781], [86123529, 86123654], [86142918, 86142996], [86144383, 86144464], [86146518, 86146587], [86167839, 86167943], [86171760, 86171846], [86171931, 86172038], [86172124, 86172190], [86173311, 86174116]] [[86119740, 86119781], [86123529, 86123654], [86142918, 86142996], [86144383, 86144464], [86146518, 86146587], [86167839, 86167943], [86171760, 86171846], [86171931, 86172038], [86172124, 86172190], [86173311, 86173967]]
NM_001170670 [[86115105, 86119781], [86123529, 86123654], [86142918, 86142996], [86144383, 86144464], [86146518, 86146587], [86167839, 86167943], [86171760, 86171846], [86171931, 86172038], [86172124, 86172190], [86173311, 86173619], [86173736, 86174116]] [[86119740, 86119781], [86123529, 86123654], [86142918, 86142996], [86144383, 86144464], [86146518, 86146587], [86167839, 86167943], [86171760, 86171846], [86171931, 86172038], [86172124, 86172190], [86173311, 86173619], [86173736, 86173967]]
Promoter
Chrom Start End Description
chr1 86173678 86173709 CAGE_peak_5_at_ZNHIT6_5end
chr1 86174004 86174028 CAGE_peak_2_at_ZNHIT6_5end
chr1 86174045 86174056 CAGE_peak_4_at_ZNHIT6_5end
chr1 86174065 86174134 CAGE_peak_1_at_ZNHIT6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I085047 85047382 85050515 1.97 [{'connected_gene': 'MCOLN3', 'score': 570.02}, {'connected_gene': 'ENSG00000271576', 'score': 16.2}, {'connected_gene': 'MCOLN2', 'score': 13.64}, {'connected_gene': 'ZNHIT6', 'score': 11.95}, {'connected_gene': 'WDR63', 'score': 4.38}, {'connected_gene': 'MIR4423', 'score': 0.18}]
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 GH01I085849 85849293 85850933 0.65 [{'connected_gene': 'ZNHIT6', 'score': 4.93}, {'connected_gene': 'GC01P085823', 'score': 0.31}, {'connected_gene': 'GC01M085884', 'score': 0.29}, {'connected_gene': 'RNA5SP51', 'score': 0.29}, {'connected_gene': 'COL24A1', 'score': 0.06}]
chr1 GH01I085671 85671650 85673211 0.2 [{'connected_gene': 'ZNHIT6', 'score': 12.05}, {'connected_gene': 'PIR53460', 'score': 0.37}]
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 GH01I086154 86154602 86157541 1.88 [{'connected_gene': 'COL24A1', 'score': 558.27}, {'connected_gene': 'ODF2L', 'score': 20.39}, {'connected_gene': 'ZNHIT6', 'score': 11.96}, {'connected_gene': 'BCL10', 'score': 11.78}, {'connected_gene': 'C1orf52', 'score': 10.83}, {'connected_gene': 'GC01M086135', 'score': 0.44}]
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 GH01I085568 85568095 85574456 1.12 [{'connected_gene': 'ENSG00000199934', 'score': 12.13}, {'connected_gene': 'ZNHIT6', 'score': 5.46}, {'connected_gene': 'ENSG00000282057', 'score': 0.44}, {'connected_gene': 'DDAH1', 'score': 0.44}, {'connected_gene': 'ENSG00000273264', 'score': 0.15}]
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}]