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
ENST00000463483 [[68906732, 68906861], [68937636, 68937830], [69002352, 69002552], [69009364, 69009452], [69014971, 69015088], [69034404, 69034612], [69040418, 69040551], [69043285, 69043443]] [[69002369, 69002552], [69009364, 69009452], [69014971, 69015088], [69034404, 69034612], [69040418, 69040551], [69043285, 69043408]]
ENST00000481684 [[68906977, 68907227], [68937636, 68937830], [68984769, 68984862], [69002352, 69002552], [69009364, 69009452], [69014971, 69015054]] None
ENST00000491237 [[68907093, 68907227], [68937636, 68937830], [69002352, 69002552], [69009364, 69009418]] None
ENST00000544262 [[68937633, 68937830], [69002352, 69002552], [69009364, 69009452], [69014971, 69015088], [69034404, 69034612], [69040418, 69040551], [69043285, 69043443]] [[69002369, 69002552], [69009364, 69009452], [69014971, 69015088], [69034404, 69034612], [69040418, 69040551], [69043285, 69043408]]
ENST00000295381 [[68961912, 68962392], [69002352, 69002552], [69009364, 69009452], [69014971, 69015088], [69034407, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053948]] [[68962331, 68962392], [69002352, 69002552], [69009364, 69009452], [69014971, 69015088], [69034407, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053326]]
ENST00000409202 [[68961966, 68962392], [69002352, 69002552], [69009364, 69009452], [69014971, 69015088], [69034404, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053965]] [[68962331, 68962392], [69002352, 69002552], [69009364, 69009452], [69014971, 69015088], [69034404, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053326]]
ENST00000456116 [[68961996, 68962392], [69002352, 69002552], [69009364, 69009452], [69034404, 69034612], [69040418, 69040526]] None
ENST00000467265 [[68962013, 68962392], [69002352, 69002552], [69009364, 69009452], [69034407, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053434]] [[68962331, 68962392], [69002352, 69002552], [69009364, 69009452], [69034407, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053326]]
ENST00000485573 [[68962083, 68962392], [68984769, 68984862], [69002352, 69002549]] None
ENST00000488795 [[68962207, 68962392], [69002352, 69002552], [69034404, 69034612], [69040418, 69040551], [69043420, 69043684]] [[68962331, 68962392], [69002352, 69002552], [69034404, 69034563]]
ENST00000463061 [[68962240, 68962392], [68984769, 68984862], [69001977, 69002270]] None
ENST00000485700 [[68962443, 68962671], [69002352, 69002552], [69009364, 69009452], [69014971, 69015088], [69034404, 69034612]] None
ENST00000496266 [[68962508, 68962671], [69001977, 69002371]] None
ENST00000409030 [[69001932, 69002552], [69009364, 69009452], [69014971, 69015088], [69034407, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053965]] [[69002312, 69002552], [69009364, 69009452], [69014971, 69015088], [69034407, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053326]]
ENST00000409220 [[69001932, 69002552], [69009364, 69009452], [69014971, 69015088], [69034404, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053965]] [[69002312, 69002552], [69009364, 69009452], [69014971, 69015088], [69034404, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053326]]
ENST00000473986 [[69002035, 69002488], [69002736, 69002904], [69009364, 69009452], [69014971, 69015088], [69034404, 69034612], [69040420, 69040551], [69043420, 69043494], [69045004, 69045127]] [[69002312, 69002488], [69002736, 69002818]]
ENST00000497079 [[69002071, 69002552], [69009364, 69009452], [69014971, 69015088], [69034404, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046874]] [[69002312, 69002552], [69009364, 69009452], [69014971, 69015088], [69034404, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046649]]
ENST00000497259 [[69034362, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053905]] [[69034362, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053326]]
ENST00000479844 [[69043833, 69044067], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053965]] [[69045044, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053326]]
NM_001166277 [[68961912, 68962392], [69002352, 69002552], [69009364, 69009452], [69034407, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053965]] [[68962331, 68962392], [69002352, 69002552], [69009364, 69009452], [69034407, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053326]]
NM_001007231 [[68961912, 68962392], [69002352, 69002552], [69009364, 69009452], [69014971, 69015088], [69034404, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053965]] [[68962331, 68962392], [69002352, 69002552], [69009364, 69009452], [69014971, 69015088], [69034404, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053326]]
NM_014882 [[69001932, 69002552], [69009364, 69009452], [69014971, 69015088], [69034407, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053965]] [[69002312, 69002552], [69009364, 69009452], [69014971, 69015088], [69034407, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053326]]
NM_001166276 [[69001932, 69002552], [69009364, 69009452], [69014971, 69015088], [69034404, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053965]] [[69002312, 69002552], [69009364, 69009452], [69014971, 69015088], [69034404, 69034612], [69040418, 69040551], [69043420, 69043494], [69045004, 69045126], [69046254, 69046451], [69049471, 69050004], [69053118, 69053326]]
Promoter
Chrom Start End Description
chr2 68961905 68961932 CAGE_peak_4_at_ARHGAP25_5end
chr2 68961934 68961975 CAGE_peak_1_at_ARHGAP25_5end
chr2 68962023 68962095 CAGE_peak_5_at_ARHGAP25_5end
chr2 68962171 68962221 CAGE_peak_7_at_ARHGAP25_5end
chr2 68962229 68962279 CAGE_peak_6_at_ARHGAP25_5end
chr2 68962505 68962521 CAGE_peak_13_at_ARHGAP25_5end
chr2 69001913 69001926 CAGE_peak_9_at_ARHGAP25_5end
chr2 69001969 69001981 CAGE_peak_8_at_ARHGAP25_5end
chr2 69002030 69002049 CAGE_peak_3_at_ARHGAP25_5end
chr2 69002052 69002083 CAGE_peak_2_at_ARHGAP25_5end
chr2 69002133 69002144 CAGE_peak_10_at_ARHGAP25_5end
chr2 69002322 69002352 CAGE_peak_11_at_ARHGAP25_5end
chr2 69002354 69002366 CAGE_peak_16_at_ARHGAP25_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I068761 68761046 68777713 2.47 [{'connected_gene': 'ARHGAP25', 'score': 576.31}, {'connected_gene': 'FBXO48', 'score': 16.58}, {'connected_gene': 'APLF', 'score': 15.73}, {'connected_gene': 'LINC01888', 'score': 12.22}, {'connected_gene': 'PLEK', 'score': 6.0}, {'connected_gene': 'LOC105374790', 'score': 0.44}]
chr2 GH02I068732 68732175 68744213 2.26 [{'connected_gene': 'ARHGAP25', 'score': 559.83}, {'connected_gene': 'PLEK', 'score': 14.91}, {'connected_gene': 'LINC01888', 'score': 11.81}, {'connected_gene': 'FBXO48', 'score': 7.07}, {'connected_gene': 'APLF', 'score': 3.52}, {'connected_gene': 'LOC105374790', 'score': 0.34}]
chr2 GH02I068679 68679293 68679834 1.08 [{'connected_gene': 'ARHGAP25', 'score': 556.84}, {'connected_gene': 'PROKR1', 'score': 0.28}]
chr2 GH02I068810 68810997 68812581 0.86 [{'connected_gene': 'ARHGAP25', 'score': 5.31}, {'connected_gene': 'LINC01888', 'score': 0.34}, {'connected_gene': 'LOC105374790', 'score': 0.25}]
chr2 GH02I068710 68710425 68711169 0.49 [{'connected_gene': 'ARHGAP25', 'score': 0.29}, {'connected_gene': 'LOC105374790', 'score': 0.23}]
chr2 GH02I068709 68709549 68709698 0.88 [{'connected_gene': 'ARHGAP25', 'score': 0.29}, {'connected_gene': 'LOC105374790', 'score': 0.23}]
chr2 GH02I069161 69160884 69165799 1.48 [{'connected_gene': 'ANTXR1', 'score': 10.47}, {'connected_gene': 'ARHGAP25', 'score': 4.62}, {'connected_gene': 'ENSG00000231024', 'score': 4.53}, {'connected_gene': 'GC02M069149', 'score': 0.39}, {'connected_gene': 'RNA5SP96', 'score': 0.37}]
chr2 GH02I068833 68833801 68836599 1.36 [{'connected_gene': 'FBXO48', 'score': 22.96}, {'connected_gene': 'PLEK', 'score': 17.06}, {'connected_gene': 'LINC01890', 'score': 13.91}, {'connected_gene': 'APLF', 'score': 13.43}, {'connected_gene': 'ARHGAP25', 'score': 1.25}, {'connected_gene': 'LINC01888', 'score': 0.77}]
chr2 GH02I068717 68717302 68718146 0.38 [{'connected_gene': 'FBXO48', 'score': 11.48}, {'connected_gene': 'APLF', 'score': 11.48}, {'connected_gene': 'LINC01888', 'score': 11.34}, {'connected_gene': 'ARHGAP25', 'score': 0.28}, {'connected_gene': 'LOC105374790', 'score': 0.25}]
chr2 GH02I068714 68714560 68716912 1.18 [{'connected_gene': 'FBXO48', 'score': 11.48}, {'connected_gene': 'APLF', 'score': 11.48}, {'connected_gene': 'LINC01888', 'score': 11.33}, {'connected_gene': 'ARHGAP25', 'score': 0.28}, {'connected_gene': 'LOC105374790', 'score': 0.25}]
chr2 GH02I068722 68722967 68724779 0.52 [{'connected_gene': 'FBXO48', 'score': 11.62}, {'connected_gene': 'APLF', 'score': 11.62}, {'connected_gene': 'LOC105374790', 'score': 0.28}, {'connected_gene': 'ARHGAP25', 'score': 0.26}]
chr2 GH02I068720 68720059 68722373 1.09 [{'connected_gene': 'FBXO48', 'score': 10.37}, {'connected_gene': 'APLF', 'score': 10.37}, {'connected_gene': 'LOC105374790', 'score': 0.26}, {'connected_gene': 'ARHGAP25', 'score': 0.26}]
chr2 GH02I068375 68375036 68391543 1.59 [{'connected_gene': 'PLEK', 'score': 25.65}, {'connected_gene': 'FBXO48', 'score': 7.16}, {'connected_gene': 'APLF', 'score': 3.54}, {'connected_gene': 'ARHGAP25', 'score': 2.93}, {'connected_gene': 'PPP3R1', 'score': 2.46}, {'connected_gene': 'C1D', 'score': 2.29}, {'connected_gene': 'LOC101927723', 'score': 0.39}, {'connected_gene': 'LOC391383', 'score': 0.2}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068361 68361954 68370458 2.51 [{'connected_gene': 'PLEK', 'score': 569.63}, {'connected_gene': 'FBXO48', 'score': 5.11}, {'connected_gene': 'APLF', 'score': 4.9}, {'connected_gene': 'ARHGAP25', 'score': 3.56}, {'connected_gene': 'C1D', 'score': 2.81}, {'connected_gene': 'PPP3R1', 'score': 2.61}, {'connected_gene': 'LOC101927723', 'score': 0.77}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068805 68805642 68810625 1.51 [{'connected_gene': 'PLEK', 'score': 15.67}, {'connected_gene': 'LINC01888', 'score': 13.25}, {'connected_gene': 'BMP10', 'score': 10.69}, {'connected_gene': 'WDR92', 'score': 9.82}, {'connected_gene': 'ARHGAP25', 'score': 8.53}, {'connected_gene': 'FBXO48', 'score': 6.48}, {'connected_gene': 'LINC01890', 'score': 5.09}, {'connected_gene': 'APLF', 'score': 2.72}, {'connected_gene': 'LOC105374790', 'score': 0.25}]
chr2 GH02I068798 68798514 68800702 1.13 [{'connected_gene': 'PLEK', 'score': 12.97}, {'connected_gene': 'LINC01888', 'score': 12.33}, {'connected_gene': 'BMP10', 'score': 10.67}, {'connected_gene': 'LINC01890', 'score': 5.19}, {'connected_gene': 'FBXO48', 'score': 4.19}, {'connected_gene': 'ARHGAP25', 'score': 2.7}, {'connected_gene': 'APLF', 'score': 1.14}, {'connected_gene': 'LOC105374790', 'score': 0.28}]
chr2 GH02I068657 68657740 68659484 0.2 [{'connected_gene': 'GFPT1', 'score': 5.39}, {'connected_gene': 'PROKR1', 'score': 0.37}, {'connected_gene': 'ARHGAP25', 'score': 0.34}]
chr2 GH02I068653 68653401 68654200 0.98 [{'connected_gene': 'PROKR1', 'score': 0.39}, {'connected_gene': 'ARHGAP25', 'score': 0.31}, {'connected_gene': 'APLF', 'score': 0.09}]
chr2 GH02I068688 68688915 68691419 1.22 [{'connected_gene': 'LINC01888', 'score': 9.86}, {'connected_gene': 'ARHGAP25', 'score': 2.83}, {'connected_gene': 'PPP3R1', 'score': 2.22}, {'connected_gene': 'PROKR1', 'score': 1.7}, {'connected_gene': 'APLF', 'score': 1.16}, {'connected_gene': 'LOC105374790', 'score': 0.19}]
chr2 GH02I068861 68861469 68861643 0.36 [{'connected_gene': 'LINC01888', 'score': 11.76}, {'connected_gene': 'ARHGAP25', 'score': 4.73}, {'connected_gene': 'PLEK', 'score': 4.64}, {'connected_gene': 'APLF', 'score': 2.77}, {'connected_gene': 'FBXO48', 'score': 1.51}, {'connected_gene': 'BMP10', 'score': 0.44}, {'connected_gene': 'LINC01890', 'score': 0.34}]
chr2 GH02I068786 68786530 68793815 0.95 [{'connected_gene': 'LINC01888', 'score': 12.23}, {'connected_gene': 'ARHGAP25', 'score': 6.04}, {'connected_gene': 'LOC105374790', 'score': 0.31}]
chr2 GH02I068778 68778283 68783341 0.31 [{'connected_gene': 'LINC01888', 'score': 12.15}, {'connected_gene': 'ARHGAP25', 'score': 6.12}, {'connected_gene': 'LOC105374790', 'score': 0.37}]
chr2 GH02I068750 68750694 68755351 1.24 [{'connected_gene': 'LINC01888', 'score': 11.27}, {'connected_gene': 'FBXO48', 'score': 10.61}, {'connected_gene': 'APLF', 'score': 10.61}, {'connected_gene': 'ARHGAP25', 'score': 7.39}, {'connected_gene': 'LOC105374790', 'score': 0.44}]
chr2 GH02I068827 68827742 68833233 1.71 [{'connected_gene': 'LINC01888', 'score': 550.77}, {'connected_gene': 'PLEK', 'score': 25.99}, {'connected_gene': 'LINC01890', 'score': 14.85}, {'connected_gene': 'FBXO48', 'score': 7.95}, {'connected_gene': 'ARHGAP25', 'score': 5.4}, {'connected_gene': 'APLF', 'score': 4.17}, {'connected_gene': 'LOC105374790', 'score': 0.2}]
chr2 GH02I068794 68794072 68798000 0.92 [{'connected_gene': 'LINC01888', 'score': 12.25}, {'connected_gene': 'BMP10', 'score': 10.66}, {'connected_gene': 'ANXA4', 'score': 4.86}, {'connected_gene': 'LOC105374790', 'score': 0.29}, {'connected_gene': 'ARHGAP25', 'score': 0.13}]
chr2 GH02I068802 68802686 68805601 0.38 [{'connected_gene': 'LINC01888', 'score': 12.69}, {'connected_gene': 'BMP10', 'score': 9.92}, {'connected_gene': 'C1D', 'score': 5.41}, {'connected_gene': 'LOC105374790', 'score': 0.26}, {'connected_gene': 'ARHGAP25', 'score': 0.13}]
chr2 GH02I068695 68695858 68696941 0.31 [{'connected_gene': 'LINC01888', 'score': 9.85}, {'connected_gene': 'GKN2', 'score': 9.3}, {'connected_gene': 'ARHGAP25', 'score': 0.37}, {'connected_gene': 'LOC105374790', 'score': 0.2}]
chr2 GH02I068800 68800866 68802160 0.2 [{'connected_gene': 'LINC01888', 'score': 12.33}, {'connected_gene': 'LINC01890', 'score': 6.08}, {'connected_gene': 'LOC105374790', 'score': 0.28}, {'connected_gene': 'ARHGAP25', 'score': 0.13}]
chr2 GH02I068748 68748601 68749000 0.4 [{'connected_gene': 'LINC01888', 'score': 10.61}, {'connected_gene': 'LOC105374790', 'score': 0.39}, {'connected_gene': 'ARHGAP25', 'score': 0.2}]
chr2 GH02I068784 68784163 68785396 0.71 [{'connected_gene': 'LINC01888', 'score': 12.16}, {'connected_gene': 'LOC105374790', 'score': 0.34}, {'connected_gene': 'ARHGAP25', 'score': 0.14}]
chr2 GH02I068744 68744353 68745415 0.57 [{'connected_gene': 'LINC01888', 'score': 11.78}, {'connected_gene': 'LOC105374790', 'score': 0.37}, {'connected_gene': 'ARHGAP25', 'score': 0.2}]
chr2 GH02I068746 68746001 68746200 0.4 [{'connected_gene': 'LINC01888', 'score': 11.53}, {'connected_gene': 'LOC105374790', 'score': 0.37}, {'connected_gene': 'ARHGAP25', 'score': 0.2}]
chr2 GH02I068747 68747201 68748200 0.58 [{'connected_gene': 'LINC01888', 'score': 10.49}, {'connected_gene': 'LOC105374790', 'score': 0.37}, {'connected_gene': 'ARHGAP25', 'score': 0.2}]
chr2 GH02I068757 68757970 68760500 0.31 [{'connected_gene': 'LINC01888', 'score': 11.66}, {'connected_gene': 'LOC105374790', 'score': 0.77}, {'connected_gene': 'ARHGAP25', 'score': 0.18}]
chr2 GH02I068749 68749041 68749968 0.2 [{'connected_gene': 'LINC01888', 'score': 10.61}, {'connected_gene': 'LOC105374790', 'score': 0.39}, {'connected_gene': 'ARHGAP25', 'score': 0.2}]
chr2 GH02I068820 68820931 68827440 0.38 [{'connected_gene': 'LINC01890', 'score': 13.63}, {'connected_gene': 'ARHGAP25', 'score': 5.62}, {'connected_gene': 'LINC01888', 'score': 0.44}, {'connected_gene': 'LOC105374790', 'score': 0.21}]
chr2 GH02I068815 68815356 68820865 0.46 [{'connected_gene': 'LINC01890', 'score': 8.14}, {'connected_gene': 'ARHGAP25', 'score': 5.6}, {'connected_gene': 'LINC01888', 'score': 0.39}, {'connected_gene': 'LOC105374790', 'score': 0.22}]
chr2 GH02I068730 68730697 68731597 0.86 [{'connected_gene': 'LOC105374790', 'score': 0.29}, {'connected_gene': 'ARHGAP25', 'score': 0.23}]
chr2 GH02I068755 68755974 68756503 0.2 [{'connected_gene': 'LOC105374790', 'score': 0.44}, {'connected_gene': 'ARHGAP25', 'score': 0.18}]
chr2 GH02I068728 68728767 68729478 0.31 [{'connected_gene': 'LOC105374790', 'score': 0.29}, {'connected_gene': 'ARHGAP25', 'score': 0.25}]
chr2 GH02I068726 68726186 68728487 1.02 [{'connected_gene': 'LOC105374790', 'score': 0.28}, {'connected_gene': 'ARHGAP25', 'score': 0.25}]