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
ENST00000330828 [[14956505, 14956685], [14975845, 14977349]] [[14975869, 14976607]]
ENST00000533472 [[14956599, 14956685], [15056940, 15057544]] None
ENST00000527783 [[14956610, 14956685], [15052102, 15052224], [15054544, 15054637], [15056940, 15059520]] None
ENST00000543822 [[15038649, 15038740], [15056940, 15057595]] None
NM_175874 [[14956505, 14956685], [14975845, 14976792]] [[14975869, 14976607]]
Promoter
Chrom Start End Description
chr12 14956076 14956089 CAGE_peak_4_at_C12orf60_5end
chr12 14956107 14956118 CAGE_peak_6_at_C12orf60_5end
chr12 14956583 14956636 CAGE_peak_1_at_C12orf60_5end
chr12 14956639 14956654 CAGE_peak_2_at_C12orf60_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I014776 14776667 14776816 0.58 [{'connected_gene': 'H2AFJ', 'score': 7.81}, {'connected_gene': 'ATF7IP', 'score': 5.04}, {'connected_gene': 'GC12P014775', 'score': 0.77}, {'connected_gene': 'PIR36886', 'score': 0.77}, {'connected_gene': 'C12orf60', 'score': 0.44}]
chr12 GH12I014772 14772863 14776654 2.1 [{'connected_gene': 'H2AFJ', 'score': 558.56}, {'connected_gene': 'GC12P014775', 'score': 550.77}, {'connected_gene': 'PIR36886', 'score': 550.77}, {'connected_gene': 'WBP11', 'score': 22.7}, {'connected_gene': 'C12orf60', 'score': 19.51}, {'connected_gene': 'ENSG00000261324', 'score': 15.35}, {'connected_gene': 'HIST4H4', 'score': 15.12}, {'connected_gene': 'ATF7IP', 'score': 13.91}, {'connected_gene': 'ERP27', 'score': 4.53}]
chr12 GH12I014780 14780601 14780800 0.31 [{'connected_gene': 'WBP11', 'score': 12.57}, {'connected_gene': 'ART4', 'score': 10.61}, {'connected_gene': 'ENSG00000256339', 'score': 10.03}, {'connected_gene': 'SMCO3', 'score': 10.0}, {'connected_gene': 'PDE6H', 'score': 8.93}, {'connected_gene': 'C12orf60', 'score': 0.77}, {'connected_gene': 'GC12P014775', 'score': 0.44}, {'connected_gene': 'PIR36886', 'score': 0.44}]
chr12 GH12I014801 14801752 14804631 2.02 [{'connected_gene': 'WBP11', 'score': 593.47}, {'connected_gene': 'C12orf60', 'score': 575.18}, {'connected_gene': 'ATF7IP', 'score': 45.86}, {'connected_gene': 'ENSG00000261324', 'score': 11.43}, {'connected_gene': 'HIST4H4', 'score': 10.13}, {'connected_gene': 'H2AFJ', 'score': 5.43}, {'connected_gene': 'SMCO3', 'score': 0.39}, {'connected_gene': 'PIR58925', 'score': 0.37}]
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 GH12I014814 14814172 14814231 0.5 [{'connected_gene': 'SMCO3', 'score': 550.77}, {'connected_gene': 'GC12P014829', 'score': 0.37}, {'connected_gene': 'C12orf60', 'score': 0.31}]
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 GH12I014846 14846001 14846739 0.58 [{'connected_gene': 'ART4', 'score': 0.77}, {'connected_gene': 'GC12M014862', 'score': 0.31}, {'connected_gene': 'C12orf60', 'score': 0.21}]
chr12 GH12I014980 14980773 14984199 0.99 [{'connected_gene': 'ART4', 'score': 11.22}, {'connected_gene': 'ENSG00000256339', 'score': 10.74}, {'connected_gene': 'ERP27', 'score': 10.2}, {'connected_gene': 'WBP11', 'score': 10.15}, {'connected_gene': 'C12orf60', 'score': 10.14}, {'connected_gene': 'HIST4H4', 'score': 9.94}, {'connected_gene': 'H2AFJ', 'score': 9.86}, {'connected_gene': 'SMCO3', 'score': 9.51}, {'connected_gene': 'ARHGDIB', 'score': 7.16}, {'connected_gene': 'PDE6H', 'score': 5.62}, {'connected_gene': 'GC12P014973', 'score': 0.44}, {'connected_gene': 'GC12P014974', 'score': 0.44}, {'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 GH12I014751 14751276 14752779 0.31 [{'connected_gene': 'GUCY2C', 'score': 22.85}, {'connected_gene': 'H2AFJ', 'score': 16.27}, {'connected_gene': 'SMCO3', 'score': 10.95}, {'connected_gene': 'C12orf60', 'score': 10.9}, {'connected_gene': 'WBP11', 'score': 10.84}, {'connected_gene': 'GC12M014736', 'score': 0.39}, {'connected_gene': 'LOC105369669', 'score': 0.37}, {'connected_gene': 'ENSG00000261324', 'score': 0.37}, {'connected_gene': 'ENSG00000214772', 'score': 0.17}]
chr12 GH12I014761 14761701 14762709 0.2 [{'connected_gene': 'C12orf60', 'score': 19.45}, {'connected_gene': 'H2AFJ', 'score': 8.37}, {'connected_gene': 'ENSG00000261324', 'score': 0.44}, {'connected_gene': 'LOC105369669', 'score': 0.44}, {'connected_gene': 'GC12M014736', 'score': 0.34}]
chr12 GH12I014777 14776867 14777609 0.83 [{'connected_gene': 'C12orf60', 'score': 19.76}, {'connected_gene': 'GC12P014775', 'score': 0.77}, {'connected_gene': 'PIR36886', 'score': 0.77}, {'connected_gene': 'H2AFJ', 'score': 0.77}]
chr12 GH12I014794 14794745 14795597 0.54 [{'connected_gene': 'C12orf60', 'score': 20.5}, {'connected_gene': 'WBP11', 'score': 0.44}, {'connected_gene': 'PIR58925', 'score': 0.44}]
chr12 GH12I014755 14755655 14757784 0.92 [{'connected_gene': 'C12orf60', 'score': 28.76}, {'connected_gene': 'GUCY2C', 'score': 11.02}, {'connected_gene': 'SMCO3', 'score': 10.96}, {'connected_gene': 'WBP11', 'score': 10.4}, {'connected_gene': 'ENSG00000261324', 'score': 0.39}, {'connected_gene': 'LOC105369669', 'score': 0.39}, {'connected_gene': 'GC12M014736', 'score': 0.37}, {'connected_gene': 'ENSG00000214772', 'score': 0.16}]
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 GH12I014896 14896047 14897378 0.91 [{'connected_gene': 'ERP27', 'score': 43.47}, {'connected_gene': 'ART4', 'score': 11.36}, {'connected_gene': 'SMCO3', 'score': 10.16}, {'connected_gene': 'ENSG00000256339', 'score': 10.16}, {'connected_gene': 'PDE6H', 'score': 9.63}, {'connected_gene': 'GC12M014889', 'score': 0.44}, {'connected_gene': 'GC12M014903', 'score': 0.39}, {'connected_gene': 'C12orf60', 'score': 0.14}]
chr12 GH12I014892 14892472 14894388 0.58 [{'connected_gene': 'ERP27', 'score': 39.58}, {'connected_gene': 'ART4', 'score': 12.24}, {'connected_gene': 'ENSG00000256339', 'score': 9.93}, {'connected_gene': 'SMCO3', 'score': 9.9}, {'connected_gene': 'GC12M014889', 'score': 0.77}, {'connected_gene': 'GC12M014903', 'score': 0.39}, {'connected_gene': 'C12orf60', 'score': 0.14}]
chr12 GH12I014834 14834004 14838259 0.99 [{'connected_gene': 'ERP27', 'score': 29.75}, {'connected_gene': 'ENSG00000256339', 'score': 24.73}, {'connected_gene': 'ART4', 'score': 0.44}, {'connected_gene': 'GC12P014829', 'score': 0.44}, {'connected_gene': 'C12orf60', 'score': 0.23}]
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 GH12I014710 14710527 14715836 0.74 [{'connected_gene': 'HIST4H4', 'score': 11.14}, {'connected_gene': 'GUCY2C', 'score': 6.82}, {'connected_gene': 'C12orf60', 'score': 5.03}, {'connected_gene': 'H2AFJ', 'score': 4.99}, {'connected_gene': 'GC12M014736', 'score': 0.31}, {'connected_gene': 'ENSG00000214772', 'score': 0.25}]
chr12 GH12I014716 14716883 14717556 0.57 [{'connected_gene': 'HIST4H4', 'score': 11.15}, {'connected_gene': 'C12orf60', 'score': 10.55}, {'connected_gene': 'GUCY2C', 'score': 9.81}, {'connected_gene': 'H2AFJ', 'score': 5.25}, {'connected_gene': 'GC12M014736', 'score': 0.34}, {'connected_gene': 'ENSG00000214772', 'score': 0.23}]
chr12 GH12I014768 14768309 14772553 2.26 [{'connected_gene': 'HIST4H4', 'score': 550.77}, {'connected_gene': 'GC12M014770', 'score': 550.77}, {'connected_gene': 'LOC105369669', 'score': 550.77}, {'connected_gene': 'C12orf60', 'score': 20.2}, {'connected_gene': 'ENSG00000261324', 'score': 19.84}, {'connected_gene': 'H2AFJ', 'score': 8.81}, {'connected_gene': 'ERP27', 'score': 4.93}]
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}]
chr12 GH12I014853 14853777 14855208 0.66 [{'connected_gene': 'ENSG00000256339', 'score': 29.97}, {'connected_gene': 'PDE6H', 'score': 5.77}, {'connected_gene': 'ART4', 'score': 0.39}, {'connected_gene': 'GC12M014862', 'score': 0.34}, {'connected_gene': 'C12orf60', 'score': 0.2}]
chr12 GH12I014848 14848834 14850396 0.46 [{'connected_gene': 'ENSG00000256339', 'score': 30.38}, {'connected_gene': 'ART4', 'score': 0.44}, {'connected_gene': 'GC12M014862', 'score': 0.31}, {'connected_gene': 'C12orf60', 'score': 0.21}]
chr12 GH12I014840 14840628 14844210 1.89 [{'connected_gene': 'ENSG00000256339', 'score': 575.24}, {'connected_gene': 'ART4', 'score': 553.73}, {'connected_gene': 'GC12M014843', 'score': 550.77}, {'connected_gene': 'GC12M014844', 'score': 550.77}, {'connected_gene': 'ERP27', 'score': 30.38}, {'connected_gene': 'H2AFJ', 'score': 4.07}, {'connected_gene': 'SMCO3', 'score': 2.03}, {'connected_gene': 'C12orf60', 'score': 0.22}]
chr12 GH12I014906 14906267 14906416 0.31 [{'connected_gene': 'GC12M014903', 'score': 550.77}, {'connected_gene': 'GC12M014889', 'score': 0.37}, {'connected_gene': 'C12orf60', 'score': 0.13}]
chr12 GH12I014904 14904668 14906076 0.63 [{'connected_gene': 'GC12M014903', 'score': 550.77}, {'connected_gene': 'ERP27', 'score': 14.06}, {'connected_gene': 'GC12M014889', 'score': 0.39}, {'connected_gene': 'C12orf60', 'score': 0.13}]
chr12 GH12I014845 14845201 14845800 0.93 [{'connected_gene': 'ENSG00000261324', 'score': 14.13}, {'connected_gene': 'HIST4H4', 'score': 12.65}, {'connected_gene': 'ATF7IP', 'score': 12.27}, {'connected_gene': 'H2AFJ', 'score': 11.16}, {'connected_gene': 'ART4', 'score': 0.77}, {'connected_gene': 'GC12M014862', 'score': 0.31}, {'connected_gene': 'C12orf60', 'score': 0.21}]
chr12 GH12I014741 14741223 14742093 0.76 [{'connected_gene': 'GC12M014736', 'score': 550.77}, {'connected_gene': 'HIST4H4', 'score': 11.54}, {'connected_gene': 'C12orf60', 'score': 10.55}, {'connected_gene': 'SMCO3', 'score': 10.48}, {'connected_gene': 'H2AFJ', 'score': 5.06}, {'connected_gene': 'ENSG00000261324', 'score': 0.31}, {'connected_gene': 'LOC105369669', 'score': 0.31}, {'connected_gene': 'ENSG00000214772', 'score': 0.18}]

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