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
ENST00000373087 [[37940152, 37940230], [37941059, 37941540], [37945890, 37946030], [37947201, 37947436], [37948034, 37948141], [37948337, 37949980]] [[37941097, 37941540], [37945890, 37946030], [37947201, 37947436], [37948034, 37948141], [37948337, 37949212]]
ENST00000472312 [[37945599, 37946030], [37947201, 37947363]] None
ENST00000471012 [[37947290, 37947436], [37947954, 37948203]] [[37947290, 37947436], [37947954, 37948203]]
NM_001323550 [[37940118, 37940230], [37941062, 37941540], [37945890, 37946030], [37947201, 37947436], [37948034, 37948141], [37948337, 37949978]] [[37941097, 37941540], [37945890, 37946030], [37947201, 37947436], [37948034, 37948141], [37948337, 37949212]]
NM_025079 [[37940118, 37940230], [37941059, 37941540], [37945890, 37946030], [37947201, 37947436], [37948034, 37948141], [37948337, 37949978]] [[37941097, 37941540], [37945890, 37946030], [37947201, 37947436], [37948034, 37948141], [37948337, 37949212]]
NM_001323551 [[37940118, 37940230], [37941059, 37941540], [37945890, 37946030], [37947201, 37947436], [37947950, 37948141], [37948337, 37949978]] [[37948038, 37948141], [37948337, 37949212]]
Promoter
Chrom Start End Description
chr1 37940102 37940131 CAGE_peak_2_at_ZC3H12A_5end
chr1 37940170 37940190 CAGE_peak_1_at_ZC3H12A_5end
chr1 37945588 37945604 CAGE_peak_3_at_ZC3H12A_5end
chr1 37947257 37947292 CAGE_peak_4_at_ZC3H12A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I037470 37470221 37488505 2.85 [{'connected_gene': 'ZC3H12A', 'score': 596.91}, {'connected_gene': 'MIR6732', 'score': 550.77}, {'connected_gene': 'LINC01137', 'score': 44.26}, {'connected_gene': 'MTF1', 'score': 33.94}, {'connected_gene': 'SNIP1', 'score': 21.25}, {'connected_gene': 'GNL2', 'score': 17.01}, {'connected_gene': 'DNALI1', 'score': 14.31}, {'connected_gene': 'SF3A3', 'score': 14.23}, {'connected_gene': 'FTH1P1', 'score': 10.37}, {'connected_gene': 'MEAF6', 'score': 9.98}, {'connected_gene': 'YRDC', 'score': 3.72}, {'connected_gene': 'C1orf122', 'score': 1.83}, {'connected_gene': 'PIR46555', 'score': 0.77}, {'connected_gene': 'GC01M037470', 'score': 0.44}]
chr1 GH01I037552 37552818 37554929 2.08 [{'connected_gene': 'SNIP1', 'score': 624.04}, {'connected_gene': 'C1orf109', 'score': 51.41}, {'connected_gene': 'SF3A3', 'score': 49.07}, {'connected_gene': 'GNL2', 'score': 42.15}, {'connected_gene': 'FTH1P1', 'score': 30.46}, {'connected_gene': 'YRDC', 'score': 19.59}, {'connected_gene': 'INPP5B', 'score': 15.78}, {'connected_gene': 'CDCA8', 'score': 10.18}, {'connected_gene': 'ZC3H12A', 'score': 10.16}, {'connected_gene': 'RSPO1', 'score': 5.68}, {'connected_gene': 'LINC01137', 'score': 4.49}, {'connected_gene': 'GC01P037546', 'score': 0.44}]
chr1 GH01I037507 37507668 37508571 0.69 [{'connected_gene': 'DNALI1', 'score': 25.12}, {'connected_gene': 'LINC01137', 'score': 15.32}, {'connected_gene': 'ZC3H12A', 'score': 10.99}, {'connected_gene': 'RPS27P9', 'score': 10.7}, {'connected_gene': 'SNIP1', 'score': 10.7}, {'connected_gene': 'GNL2', 'score': 10.17}, {'connected_gene': 'MEAF6', 'score': 0.44}, {'connected_gene': 'MIR5581', 'score': 0.44}]
chr1 GH01I037448 37448154 37450413 0.82 [{'connected_gene': 'LINC01137', 'score': 24.46}, {'connected_gene': 'ZC3H12A', 'score': 12.13}, {'connected_gene': 'RPS27P9', 'score': 10.66}, {'connected_gene': 'SNIP1', 'score': 10.66}, {'connected_gene': 'DNALI1', 'score': 10.66}, {'connected_gene': 'RSPO1', 'score': 5.49}, {'connected_gene': 'MEAF6', 'score': 4.47}, {'connected_gene': 'GC01M037470', 'score': 0.34}, {'connected_gene': 'PIR53142', 'score': 0.15}]
chr1 GH01I037451 37451804 37453531 0.74 [{'connected_gene': 'LINC01137', 'score': 33.94}, {'connected_gene': 'ZC3H12A', 'score': 12.13}, {'connected_gene': 'RPS27P9', 'score': 10.67}, {'connected_gene': 'SNIP1', 'score': 10.67}, {'connected_gene': 'DNALI1', 'score': 10.67}, {'connected_gene': 'RSPO1', 'score': 5.49}, {'connected_gene': 'GC01M037470', 'score': 0.37}, {'connected_gene': 'PIR53142', 'score': 0.15}]
chr1 GH01I037497 37497975 37498109 0.76 [{'connected_gene': 'LINC01137', 'score': 11.76}, {'connected_gene': 'ZC3H12A', 'score': 11.76}, {'connected_gene': 'RPS27P9', 'score': 11.04}, {'connected_gene': 'SNIP1', 'score': 11.04}, {'connected_gene': 'DNALI1', 'score': 11.04}, {'connected_gene': 'MIR5581', 'score': 0.77}, {'connected_gene': 'MEAF6', 'score': 0.37}, {'connected_gene': 'PIR46555', 'score': 0.37}]
chr1 GH01I037496 37496512 37496817 0.4 [{'connected_gene': 'LINC01137', 'score': 11.76}, {'connected_gene': 'ZC3H12A', 'score': 11.76}, {'connected_gene': 'RPS27P9', 'score': 11.04}, {'connected_gene': 'SNIP1', 'score': 11.04}, {'connected_gene': 'DNALI1', 'score': 11.03}, {'connected_gene': 'MIR5581', 'score': 0.77}, {'connected_gene': 'PIR46555', 'score': 0.39}, {'connected_gene': 'MEAF6', 'score': 0.37}]
chr1 GH01I037845 37845201 37847600 1.05 [{'connected_gene': 'MTF1', 'score': 29.85}, {'connected_gene': 'ZC3H12A', 'score': 28.85}, {'connected_gene': 'YRDC', 'score': 13.01}, {'connected_gene': 'C1orf122', 'score': 11.27}, {'connected_gene': 'ENSG00000233728', 'score': 10.5}, {'connected_gene': 'CDCA8', 'score': 9.84}, {'connected_gene': 'C1orf109', 'score': 9.84}, {'connected_gene': 'FHL3', 'score': 5.64}, {'connected_gene': 'SNIP1', 'score': 3.05}, {'connected_gene': 'RPS2P13', 'score': 0.44}]
chr1 GH01I037819 37819949 37820149 0.45 [{'connected_gene': 'MTF1', 'score': 16.12}, {'connected_gene': 'ENSG00000230955', 'score': 11.44}, {'connected_gene': 'CDCA8', 'score': 9.72}, {'connected_gene': 'C1orf109', 'score': 9.72}, {'connected_gene': 'INPP5B', 'score': 9.44}, {'connected_gene': 'ZC3H12A', 'score': 5.59}, {'connected_gene': 'GC01M037827', 'score': 0.77}, {'connected_gene': 'PIR39326', 'score': 0.77}, {'connected_gene': 'PIR53410', 'score': 0.44}]
chr1 GH01I037825 37825201 37826000 0.6 [{'connected_gene': 'MTF1', 'score': 37.74}, {'connected_gene': 'INPP5B', 'score': 27.08}, {'connected_gene': 'ZC3H12A', 'score': 25.35}, {'connected_gene': 'ENSG00000230955', 'score': 11.77}, {'connected_gene': 'ENSG00000233728', 'score': 11.37}, {'connected_gene': 'SNIP1', 'score': 2.64}, {'connected_gene': 'YRDC', 'score': 2.15}, {'connected_gene': 'GC01M037827', 'score': 0.77}, {'connected_gene': 'PIR39326', 'score': 0.77}, {'connected_gene': 'RPS2P13', 'score': 0.37}]
chr1 GH01I037850 37850001 37853800 1.36 [{'connected_gene': 'MTF1', 'score': 45.73}, {'connected_gene': 'INPP5B', 'score': 36.9}, {'connected_gene': 'ZC3H12A', 'score': 25.89}, {'connected_gene': 'YRDC', 'score': 13.25}, {'connected_gene': 'C1orf122', 'score': 10.84}, {'connected_gene': 'ENSG00000233728', 'score': 10.58}, {'connected_gene': 'SNIP1', 'score': 2.75}, {'connected_gene': 'RPS2P13', 'score': 0.39}]
chr1 GH01I037545 37545130 37545378 0.43 [{'connected_gene': 'FTH1P1', 'score': 562.29}, {'connected_gene': 'GC01P037545', 'score': 550.77}, {'connected_gene': 'GC01P037546', 'score': 550.77}, {'connected_gene': 'GNL2', 'score': 35.96}, {'connected_gene': 'SF3A3', 'score': 21.34}, {'connected_gene': 'SNIP1', 'score': 15.7}, {'connected_gene': 'MEAF6', 'score': 11.86}, {'connected_gene': 'INPP5B', 'score': 11.38}, {'connected_gene': 'CDCA8', 'score': 10.17}, {'connected_gene': 'C1orf109', 'score': 10.17}, {'connected_gene': 'ZC3H12A', 'score': 2.5}, {'connected_gene': 'MTF1', 'score': 2.15}]
chr1 GH01I037842 37842683 37842892 0.38 [{'connected_gene': 'RPS2P13', 'score': 550.77}, {'connected_gene': 'ZC3H12A', 'score': 12.88}, {'connected_gene': 'YRDC', 'score': 11.47}, {'connected_gene': 'C1orf122', 'score': 11.45}, {'connected_gene': 'ENSG00000233728', 'score': 10.72}, {'connected_gene': 'MTF1', 'score': 9.16}, {'connected_gene': 'FHL3', 'score': 4.58}, {'connected_gene': 'SNIP1', 'score': 2.26}]
chr1 GH01I037821 37821486 37821727 0.24 [{'connected_gene': 'GC01M037827', 'score': 550.77}, {'connected_gene': 'PIR39326', 'score': 550.77}, {'connected_gene': 'MTF1', 'score': 43.15}, {'connected_gene': 'ZC3H12A', 'score': 21.26}, {'connected_gene': 'ENSG00000230955', 'score': 11.46}, {'connected_gene': 'CDCA8', 'score': 9.72}, {'connected_gene': 'C1orf109', 'score': 9.72}, {'connected_gene': 'SNIP1', 'score': 2.83}, {'connected_gene': 'YRDC', 'score': 2.62}, {'connected_gene': 'PIR53410', 'score': 0.44}]
chr1 GH01I037544 37544183 37544803 0.47 [{'connected_gene': 'GC01P037545', 'score': 550.77}, {'connected_gene': 'GC01P037546', 'score': 550.77}, {'connected_gene': 'FTH1P1', 'score': 550.77}, {'connected_gene': 'MEAF6', 'score': 25.53}, {'connected_gene': 'GNL2', 'score': 10.93}, {'connected_gene': 'CDCA8', 'score': 10.17}, {'connected_gene': 'C1orf109', 'score': 10.17}, {'connected_gene': 'LINC01137', 'score': 4.5}, {'connected_gene': 'ZC3H12A', 'score': 3.52}, {'connected_gene': 'MTF1', 'score': 2.35}, {'connected_gene': 'SNIP1', 'score': 1.77}, {'connected_gene': 'LOC105378649', 'score': 0.39}]