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
ENST00000350896 [[15965386, 15967727], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021760], [16025966, 16026379], [16032695, 16032809], [16035394, 16035501], [16050106, 16050300]] [[15967593, 15967727], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021760], [16025966, 16026379], [16032695, 16032809], [16035394, 16035497]]
ENST00000262101 [[15966939, 15967727], [15977926, 15978115], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021760], [16025966, 16026379], [16032695, 16032809], [16035394, 16035501], [16050106, 16050224]] [[15967593, 15967727], [15977926, 15978115], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021760], [16025966, 16026379], [16032695, 16032809], [16035394, 16035497]]
ENST00000445506 [[15967554, 15967727], [15977926, 15978115], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021760], [16025966, 16026379], [16032695, 16032809], [16035394, 16035501], [16043667, 16043781]] [[15967593, 15967727], [15977926, 15978115], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021760], [16025966, 16026379], [16032695, 16032809], [16035394, 16035501], [16043667, 16043717]]
ENST00000355282 [[15967593, 15967727], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021760], [16025966, 16026379], [16032695, 16032809], [16035394, 16035497]] [[15967593, 15967727], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021760], [16025966, 16026379], [16032695, 16032809], [16035394, 16035497]]
ENST00000522672 [[15978397, 15978689], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021760]] [[15978642, 15978689], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021760]]
ENST00000518026 [[16032771, 16032809], [16035394, 16035501], [16122681, 16122840], [16240787, 16240836], [16369355, 16369419], [16424758, 16424871]] [[16032771, 16032809], [16035394, 16035501], [16122681, 16122710]]
ENST00000521876 [[16107906, 16108001], [16113752, 16113919], [16122681, 16122840], [16240787, 16240836], [16369355, 16369425]] None
ENST00000518343 [[16113839, 16113919], [16122681, 16122840], [16353301, 16353455], [16355382, 16355493], [16369355, 16369419], [16424900, 16424929]] None
ENST00000522130 [[16325272, 16325545], [16369355, 16369419], [16423043, 16423096], [16424900, 16424999]] None
ENST00000381998 [[15996827, 15998554], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021760], [16025966, 16026379], [16032695, 16032809], [16035394, 16035501], [16050106, 16050168]] [[15998510, 15998554], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021760], [16025966, 16026379], [16032695, 16032809], [16035394, 16035497]]
ENST00000519060 [[15998163, 15998608], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021760], [16035394, 16035501], [16050106, 16050160]] [[16021749, 16021760], [16035394, 16035497]]
ENST00000536385 [[15998163, 15998554], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021760], [16035394, 16035501], [16050106, 16050160]] [[15998510, 15998554], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021712]]
ENST00000518960 [[16032718, 16032809], [16035394, 16035501], [16072321, 16072403], [16072510, 16072583]] [[16032718, 16032809], [16035394, 16035497]]
ENST00000517522 [[16225594, 16225947], [16240787, 16240837]] None
ENST00000520846 [[16325260, 16325545], [16353301, 16353389]] None
NM_138715 [[15965386, 15967727], [15977926, 15978115], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021760], [16025966, 16026379], [16032695, 16032809], [16035394, 16035501], [16050106, 16050300]] [[15967593, 15967727], [15977926, 15978115], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021760], [16025966, 16026379], [16032695, 16032809], [16035394, 16035497]]
NM_138716 [[15965386, 15967727], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021760], [16025966, 16026379], [16032695, 16032809], [16035394, 16035501], [16050106, 16050300]] [[15967593, 15967727], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021760], [16025966, 16026379], [16032695, 16032809], [16035394, 16035497]]
NM_002445 [[15996825, 15998554], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021760], [16025966, 16026379], [16032695, 16032809], [16035394, 16035501], [16050106, 16050300]] [[15998510, 15998554], [16001066, 16001120], [16007739, 16007820], [16012572, 16012653], [16021573, 16021760], [16025966, 16026379], [16032695, 16032809], [16035394, 16035497]]
Promoter
Chrom Start End Description
chr8 16035454 16035468 CAGE_peak_10_at_MSR1_5end
chr8 16043780 16043783 CAGE_peak_6_at_MSR1_5end
chr8 16050142 16050168 CAGE_peak_1_at_MSR1_5end
chr8 16050214 16050227 CAGE_peak_2_at_MSR1_5end
chr8 16050288 16050299 CAGE_peak_4_at_MSR1_5end
chr8 16424975 16425011 CAGE_peak_3_at_MSR1_5end
chr8 16425014 16425019 CAGE_peak_13_at_MSR1_5end
chr8 16425043 16425061 CAGE_peak_5_at_MSR1_5end
chr8 16425067 16425095 CAGE_peak_7_at_MSR1_5end
chr8 16425118 16425128 CAGE_peak_12_at_MSR1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I016283 16283402 16285495 0.43 [{'connected_gene': 'CCT3P1', 'score': 0.44}, {'connected_gene': 'GC08P016314', 'score': 0.29}, {'connected_gene': 'MSR1', 'score': 0.06}]
chr8 GH08I016264 16264108 16265693 0.2 [{'connected_gene': 'CCT3P1', 'score': 0.39}, {'connected_gene': 'GC08M016126', 'score': 0.26}, {'connected_gene': 'MSR1', 'score': 0.06}]
chr8 GH08I016423 16423272 16423858 0.43 [{'connected_gene': 'MSR1', 'score': 12.64}, {'connected_gene': 'GC08M016443', 'score': 0.34}, {'connected_gene': 'MRPL49P2', 'score': 0.25}, {'connected_gene': 'LOC101929028', 'score': 0.07}]
chr8 GH08I016364 16364737 16364915 0.47 [{'connected_gene': 'MSR1', 'score': 7.65}, {'connected_gene': 'MRPL49P2', 'score': 0.44}, {'connected_gene': 'GC08M016350', 'score': 0.39}]
chr8 GH08I016361 16361522 16363400 0.67 [{'connected_gene': 'MSR1', 'score': 11.14}, {'connected_gene': 'MRPL49P2', 'score': 0.39}, {'connected_gene': 'GC08M016350', 'score': 0.39}]
chr8 GH08I016631 16631801 16632774 0.42 [{'connected_gene': 'MSR1', 'score': 13.07}, {'connected_gene': 'GC08M016637', 'score': 0.39}, {'connected_gene': 'GC08P016619', 'score': 0.39}, {'connected_gene': 'ENSG00000253184', 'score': 0.31}, {'connected_gene': 'LOC101929028', 'score': 0.23}]
chr8 GH08I016546 16546869 16548877 0.6 [{'connected_gene': 'MSR1', 'score': 18.95}, {'connected_gene': 'GC08M016443', 'score': 0.15}, {'connected_gene': 'LOC101929028', 'score': 0.12}]
chr8 GH08I016578 16578600 16579001 0.56 [{'connected_gene': 'MSR1', 'score': 0.39}, {'connected_gene': 'PIR53677', 'score': 0.37}, {'connected_gene': 'LOC101929028', 'score': 0.14}]
chr8 GH08I016518 16518132 16518301 0.2 [{'connected_gene': 'MSR1', 'score': 6.02}, {'connected_gene': 'GC08M016443', 'score': 0.19}, {'connected_gene': 'LOC101929028', 'score': 0.1}]
chr8 GH08I016197 16196962 16197293 0.29 [{'connected_gene': 'MSR1', 'score': 16.4}, {'connected_gene': 'GC08M016126', 'score': 0.34}, {'connected_gene': 'GC08P016135', 'score': 0.21}]
chr8 GH08I016328 16328159 16328353 0.23 [{'connected_gene': 'MSR1', 'score': 11.43}, {'connected_gene': 'GC08M016329', 'score': 0.44}, {'connected_gene': 'GC08P016314', 'score': 0.39}]
chr8 GH08I016163 16163801 16164800 0.31 [{'connected_gene': 'MSR1', 'score': 4.38}, {'connected_gene': 'GC08P016135', 'score': 0.31}, {'connected_gene': 'GC08M016126', 'score': 0.22}]
chr8 GH08I016185 16185801 16186800 0.7 [{'connected_gene': 'MSR1', 'score': 550.05}, {'connected_gene': 'GC08M016126', 'score': 0.29}, {'connected_gene': 'GC08P016135', 'score': 0.23}]
chr8 GH08I016192 16192641 16192700 0.5 [{'connected_gene': 'MSR1', 'score': 550.05}, {'connected_gene': 'GC08M016126', 'score': 0.31}, {'connected_gene': 'GC08P016135', 'score': 0.22}]
chr8 GH08I016193 16192775 16192834 0.5 [{'connected_gene': 'MSR1', 'score': 550.05}, {'connected_gene': 'GC08M016126', 'score': 0.31}, {'connected_gene': 'GC08P016135', 'score': 0.22}]
chr8 GH08I016371 16371457 16371788 0.2 [{'connected_gene': 'MRPL49P2', 'score': 0.77}, {'connected_gene': 'GC08M016350', 'score': 0.34}, {'connected_gene': 'MSR1', 'score': 0.08}, {'connected_gene': 'LOC101929028', 'score': 0.06}]
chr8 GH08I016407 16407008 16410830 0.8 [{'connected_gene': 'MRPL49P2', 'score': 0.29}, {'connected_gene': 'GC08M016443', 'score': 0.28}, {'connected_gene': 'MSR1', 'score': 0.1}, {'connected_gene': 'LOC101929028', 'score': 0.06}]
chr8 GH08I016603 16603427 16604838 1.18 [{'connected_gene': 'ENSG00000253184', 'score': 550.77}, {'connected_gene': 'MSR1', 'score': 21.22}, {'connected_gene': 'PIR53677', 'score': 0.44}, {'connected_gene': 'LOC101929028', 'score': 0.18}]
chr8 GH08I016477 16477411 16478168 0.43 [{'connected_gene': 'GC08M016443', 'score': 0.29}, {'connected_gene': 'MSR1', 'score': 0.17}, {'connected_gene': 'LOC101929028', 'score': 0.08}]
chr8 GH08I016198 16196601 16196800 0.2 [{'connected_gene': 'GC08M016126', 'score': 0.34}, {'connected_gene': 'GC08P016135', 'score': 0.21}, {'connected_gene': 'MSR1', 'score': 0.05}]
chr8 GH08I016196 16196201 16196400 0.2 [{'connected_gene': 'GC08M016126', 'score': 0.34}, {'connected_gene': 'GC08P016135', 'score': 0.21}, {'connected_gene': 'MSR1', 'score': 0.05}]
chr8 GH08I016322 16322589 16322793 0.22 [{'connected_gene': 'GC08P016314', 'score': 0.44}, {'connected_gene': 'GC08M016329', 'score': 0.37}, {'connected_gene': 'MSR1', 'score': 0.07}]
chr8 GH08I016214 16214326 16215621 0.31 [{'connected_gene': 'GC08M016126', 'score': 0.44}, {'connected_gene': 'GC08P016135', 'score': 0.18}, {'connected_gene': 'MSR1', 'score': 0.05}]
chr8 GH08I016415 16415840 16416846 0.4 [{'connected_gene': 'GC08M016443', 'score': 0.31}, {'connected_gene': 'MRPL49P2', 'score': 0.26}, {'connected_gene': 'MSR1', 'score': 0.1}, {'connected_gene': 'LOC101929028', 'score': 0.06}]
chr8 GH08I016413 16413068 16415230 0.31 [{'connected_gene': 'GC08M016443', 'score': 0.29}, {'connected_gene': 'MRPL49P2', 'score': 0.28}, {'connected_gene': 'MSR1', 'score': 0.1}, {'connected_gene': 'LOC101929028', 'score': 0.06}]