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
ENST00000539261 [[15034114, 15035214], [15035905, 15035981], [15037146, 15037179], [15038664, 15038860]] [[15035072, 15035214], [15035905, 15035981], [15037146, 15037179], [15038664, 15038725]]
ENST00000545199 [[15034824, 15035214], [15037146, 15037179]] [[15035023, 15035214], [15037146, 15037179]]
ENST00000228938 [[15034831, 15035214], [15035905, 15035981], [15037146, 15037179], [15037746, 15037821], [15038664, 15038791]] [[15035072, 15035214], [15035905, 15035981], [15037146, 15037179], [15037746, 15037821], [15038664, 15038725]]
ENST00000507170 [[15035987, 15037179], [15038664, 15038788]] None
NM_001190839 [[15033797, 15035214], [15035905, 15035981], [15037146, 15037179], [15037746, 15037821], [15038664, 15038996]] [[15035072, 15035214], [15035905, 15035981], [15037146, 15037179], [15037746, 15037821], [15038664, 15038725]]
NM_000900 [[15033797, 15035214], [15035905, 15035981], [15037146, 15037179], [15038664, 15038996]] [[15035072, 15035214], [15035905, 15035981], [15037146, 15037179], [15038664, 15038725]]
Promoter
Chrom Start End Description
chr12 15038779 15038798 CAGE_peak_1_at_MGP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I014944 14944375 14945168 0.2 [{'connected_gene': 'PDE6H', 'score': 17.7}, {'connected_gene': 'HIST4H4', 'score': 10.33}, {'connected_gene': 'ENSG00000256339', 'score': 10.27}, {'connected_gene': 'MGP', 'score': 10.17}, {'connected_gene': 'C12orf60', 'score': 10.05}, {'connected_gene': 'ERP27', 'score': 4.81}, {'connected_gene': 'ARHGDIB', 'score': 0.37}]
chr12 GH12I014930 14930447 14930467 0.31 [{'connected_gene': 'MGP', 'score': 10.61}, {'connected_gene': 'C12orf60', 'score': 10.46}, {'connected_gene': 'PDE6H', 'score': 10.01}, {'connected_gene': 'ERP27', 'score': 0.44}, {'connected_gene': 'GC12M014903', 'score': 0.34}]
chr12 GH12I014883 14883386 14886556 1.92 [{'connected_gene': 'MGP', 'score': 550.77}, {'connected_gene': 'ENSG00000256339', 'score': 36.62}, {'connected_gene': 'ERP27', 'score': 29.78}, {'connected_gene': 'PDE6H', 'score': 15.64}, {'connected_gene': 'ART4', 'score': 11.51}, {'connected_gene': 'SMCO3', 'score': 10.51}, {'connected_gene': 'ARHGDIB', 'score': 10.39}, {'connected_gene': 'HIST4H4', 'score': 10.36}, {'connected_gene': 'H2AFJ', 'score': 10.36}, {'connected_gene': 'WBP11', 'score': 10.14}, {'connected_gene': 'C12orf60', 'score': 10.11}, {'connected_gene': 'GC12M014862', 'score': 0.39}]
chr12 GH12I014999 14999507 14999684 0.38 [{'connected_gene': 'ART4', 'score': 11.73}, {'connected_gene': 'PDE6H', 'score': 11.34}, {'connected_gene': 'ENSG00000256339', 'score': 11.12}, {'connected_gene': 'ARHGDIB', 'score': 11.11}, {'connected_gene': 'ERP27', 'score': 10.53}, {'connected_gene': 'SMCO3', 'score': 10.49}, {'connected_gene': 'C12orf60', 'score': 9.95}, {'connected_gene': 'MGP', 'score': 9.69}, {'connected_gene': 'LINC01489', 'score': 0.77}, {'connected_gene': 'LOC105369670', 'score': 0.44}]
chr12 GH12I014931 14931507 14932649 0.2 [{'connected_gene': 'ART4', 'score': 11.47}, {'connected_gene': 'HIST4H4', 'score': 11.04}, {'connected_gene': 'MGP', 'score': 10.79}, {'connected_gene': 'C12orf60', 'score': 10.65}, {'connected_gene': 'PDE6H', 'score': 10.29}, {'connected_gene': 'ENSG00000256339', 'score': 9.51}, {'connected_gene': 'ERP27', 'score': 0.44}, {'connected_gene': 'GC12M014903', 'score': 0.31}]
chr12 GH12I014945 14945763 14964864 2.65 [{'connected_gene': 'ARHGDIB', 'score': 572.66}, {'connected_gene': 'ERP27', 'score': 16.91}, {'connected_gene': 'PDE6H', 'score': 16.09}, {'connected_gene': 'WBP11', 'score': 12.28}, {'connected_gene': 'ART4', 'score': 11.35}, {'connected_gene': 'HIST4H4', 'score': 10.69}, {'connected_gene': 'H2AFJ', 'score': 10.69}, {'connected_gene': 'SMCO3', 'score': 10.41}, {'connected_gene': 'C12orf60', 'score': 10.32}, {'connected_gene': 'ENSG00000256339', 'score': 10.26}, {'connected_gene': 'MGP', 'score': 10.15}, {'connected_gene': 'PLBD1', 'score': 2.18}, {'connected_gene': 'LOC105369670', 'score': 0.29}]
chr12 GH12I013980 13980410 13980469 0.68 [{'connected_gene': 'GRIN2B', 'score': 550.77}, {'connected_gene': 'MGP', 'score': 4.81}, {'connected_gene': 'GC12P013958', 'score': 0.34}]
chr12 GH12I014976 14976696 14976969 0.59 [{'connected_gene': 'ERP27', 'score': 9.91}, {'connected_gene': 'ENSG00000256339', 'score': 9.77}, {'connected_gene': 'WBP11', 'score': 9.69}, {'connected_gene': 'C12orf60', 'score': 9.68}, {'connected_gene': 'MGP', 'score': 9.65}, {'connected_gene': 'SMCO3', 'score': 9.48}, {'connected_gene': 'PDE6H', 'score': 5.89}, {'connected_gene': 'PLBD1', 'score': 2.59}, {'connected_gene': 'GC12P014973', 'score': 0.77}, {'connected_gene': 'GC12P014974', 'score': 0.77}, {'connected_gene': 'LOC105369670', 'score': 0.39}]
chr12 GH12I014940 14940516 14942993 0.38 [{'connected_gene': 'ERP27', 'score': 47.51}, {'connected_gene': 'PDE6H', 'score': 19.7}, {'connected_gene': 'HIST4H4', 'score': 10.33}, {'connected_gene': 'ENSG00000256339', 'score': 10.27}, {'connected_gene': 'MGP', 'score': 10.17}, {'connected_gene': 'C12orf60', 'score': 10.05}, {'connected_gene': 'ARHGDIB', 'score': 0.37}]
chr12 GH12I014927 14927767 14930181 1.3 [{'connected_gene': 'ERP27', 'score': 612.86}, {'connected_gene': 'MGP', 'score': 11.27}, {'connected_gene': 'C12orf60', 'score': 11.12}, {'connected_gene': 'ARHGDIB', 'score': 10.98}, {'connected_gene': 'PDE6H', 'score': 10.22}, {'connected_gene': 'ENSG00000256339', 'score': 10.15}, {'connected_gene': 'GC12M014903', 'score': 0.34}]
chr12 GH12I014937 14937141 14939817 1.42 [{'connected_gene': 'ERP27', 'score': 598.24}, {'connected_gene': 'ARHGDIB', 'score': 11.43}, {'connected_gene': 'PDE6H', 'score': 10.95}, {'connected_gene': 'HIST4H4', 'score': 10.33}, {'connected_gene': 'ENSG00000256339', 'score': 10.28}, {'connected_gene': 'MGP', 'score': 10.18}, {'connected_gene': 'C12orf60', 'score': 10.05}, {'connected_gene': 'GC12M014903', 'score': 0.29}]
chr12 GH12I015001 15001687 15002394 0.31 [{'connected_gene': 'LINC01489', 'score': 550.77}, {'connected_gene': 'ART4', 'score': 12.04}, {'connected_gene': 'PDE6H', 'score': 10.92}, {'connected_gene': 'ENSG00000256339', 'score': 10.71}, {'connected_gene': 'ARHGDIB', 'score': 10.63}, {'connected_gene': 'SMCO3', 'score': 10.28}, {'connected_gene': 'H2AFJ', 'score': 10.16}, {'connected_gene': 'HIST4H4', 'score': 10.16}, {'connected_gene': 'MGP', 'score': 10.11}, {'connected_gene': 'C12orf60', 'score': 10.1}, {'connected_gene': 'GC12M015095', 'score': 0.16}]
chr12 GH12I015000 15000087 15000236 0.31 [{'connected_gene': 'LINC01489', 'score': 550.77}, {'connected_gene': 'ART4', 'score': 11.73}, {'connected_gene': 'PDE6H', 'score': 11.34}, {'connected_gene': 'ENSG00000256339', 'score': 11.12}, {'connected_gene': 'ARHGDIB', 'score': 11.11}, {'connected_gene': 'ERP27', 'score': 10.53}, {'connected_gene': 'SMCO3', 'score': 10.49}, {'connected_gene': 'C12orf60', 'score': 9.95}, {'connected_gene': 'MGP', 'score': 9.69}, {'connected_gene': 'LOC105369670', 'score': 0.39}]