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
ENST00000462410 [[211499956, 211500015], [211526580, 211526799], [211527751, 211527809], [211529708, 211534121], [211534429, 211534504], [211538717, 211538851]] None
ENST00000336184 [[211499956, 211500015], [211526580, 211526799], [211527751, 211527809], [211529708, 211529810], [211533253, 211533418], [211534043, 211534121], [211534429, 211534504], [211538717, 211538810], [211542793, 211542934], [211544643, 211544812], [211545469, 211548282]] [[211526581, 211526799], [211527751, 211527809], [211529708, 211529810], [211533253, 211533418], [211534043, 211534121], [211534429, 211534504], [211538717, 211538810], [211542793, 211542934], [211544643, 211544812], [211545469, 211546044]]
ENST00000488428 [[211500039, 211500231], [211526580, 211526799], [211527751, 211527809], [211529708, 211529810], [211533223, 211533418], [211534043, 211534121], [211534429, 211534490]] None
ENST00000427925 [[211500168, 211500231], [211526580, 211526799], [211527751, 211527809], [211529708, 211529810], [211538717, 211538810], [211542793, 211542934], [211544643, 211544812], [211545469, 211546246]] [[211526581, 211526799], [211527751, 211527809], [211529708, 211529810], [211538717, 211538810], [211542793, 211542934], [211544643, 211544812], [211545469, 211546044]]
ENST00000494355 [[211500174, 211500231], [211526580, 211526960]] None
ENST00000261464 [[211500178, 211500231], [211526580, 211526799], [211527751, 211527809], [211529708, 211529810], [211533253, 211533418], [211534043, 211534121], [211534429, 211534504], [211538717, 211538810], [211542793, 211542934], [211544643, 211544812], [211545469, 211548288]] [[211526581, 211526799], [211527751, 211527809], [211529708, 211529810], [211533253, 211533418], [211534043, 211534121], [211534429, 211534504], [211538717, 211538810], [211542793, 211542934], [211544643, 211544812], [211545469, 211546044]]
ENST00000367004 [[211519705, 211519764], [211526580, 211526799], [211527751, 211527809], [211529708, 211529810], [211533253, 211533418], [211534043, 211534121], [211534429, 211534504], [211538717, 211538810], [211542793, 211542934], [211544643, 211544812], [211545469, 211546137]] [[211526581, 211526799], [211527751, 211527809], [211529708, 211529810], [211533253, 211533418], [211534043, 211534121], [211534429, 211534504], [211538717, 211538810], [211542793, 211542934], [211544643, 211544812], [211545469, 211546044]]
ENST00000473385 [[211542270, 211542934], [211544643, 211544812], [211545469, 211548127]] None
NM_004619 [[211499956, 211500015], [211526580, 211526799], [211527751, 211527809], [211529708, 211529810], [211533253, 211533418], [211534043, 211534121], [211534429, 211534504], [211538717, 211538810], [211542793, 211542934], [211544643, 211544812], [211545469, 211548288]] [[211526581, 211526799], [211527751, 211527809], [211529708, 211529810], [211533253, 211533418], [211534043, 211534121], [211534429, 211534504], [211538717, 211538810], [211542793, 211542934], [211544643, 211544812], [211545469, 211546044]]
NM_001033910 [[211500147, 211500231], [211526580, 211526799], [211527751, 211527809], [211529708, 211529810], [211533253, 211533418], [211534043, 211534121], [211534429, 211534504], [211538717, 211538810], [211542793, 211542934], [211544643, 211544812], [211545469, 211548288]] [[211526581, 211526799], [211527751, 211527809], [211529708, 211529810], [211533253, 211533418], [211534043, 211534121], [211534429, 211534504], [211538717, 211538810], [211542793, 211542934], [211544643, 211544812], [211545469, 211546044]]
NM_001319207 [[211500147, 211500231], [211526580, 211526799], [211527751, 211527809], [211529708, 211529810], [211533220, 211533418], [211534043, 211534121], [211534429, 211534504], [211538717, 211538810], [211542793, 211542934], [211544643, 211544812], [211545469, 211548288]] [[211526581, 211526799], [211527751, 211527809], [211529708, 211529810], [211533220, 211533418], [211534043, 211534121], [211534429, 211534504], [211538717, 211538810], [211542793, 211542934], [211544643, 211544812], [211545469, 211546044]]
NM_145759 [[211519705, 211519764], [211526580, 211526799], [211527751, 211527809], [211529708, 211529810], [211533253, 211533418], [211534043, 211534121], [211534429, 211534504], [211538717, 211538810], [211542793, 211542934], [211544643, 211544812], [211545469, 211548288]] [[211526581, 211526799], [211527751, 211527809], [211529708, 211529810], [211533253, 211533418], [211534043, 211534121], [211534429, 211534504], [211538717, 211538810], [211542793, 211542934], [211544643, 211544812], [211545469, 211546044]]
Promoter
Chrom Start End Description
chr1 211499971 211499982 CAGE_peak_3_at_TRAF5_5end
chr1 211500017 211500028 CAGE_peak_4_at_TRAF5_5end
chr1 211500129 211500189 CAGE_peak_1_at_TRAF5_5end
chr1 211500190 211500204 CAGE_peak_2_at_TRAF5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I211914 211914910 211921650 1.35 [{'connected_gene': 'LPGAT1', 'score': 20.39}, {'connected_gene': 'LOC102723727', 'score': 19.38}, {'connected_gene': 'SNORA16B', 'score': 15.95}, {'connected_gene': 'TRAF5', 'score': 11.08}, {'connected_gene': 'ENSG00000212187', 'score': 10.39}, {'connected_gene': 'ENSG00000229832', 'score': 9.68}, {'connected_gene': 'INTS7', 'score': 4.2}, {'connected_gene': 'ENSG00000233626', 'score': 0.37}, {'connected_gene': 'PIR53279', 'score': 0.25}]
chr1 GH01I211365 211365265 211369720 0.43 [{'connected_gene': 'LINC00467', 'score': 17.49}, {'connected_gene': 'TRAF5', 'score': 12.41}, {'connected_gene': 'RD3', 'score': 11.33}, {'connected_gene': 'ENSG00000223649', 'score': 11.33}]
chr1 GH01I211381 211381714 211384093 1.77 [{'connected_gene': 'LINC00467', 'score': 562.46}, {'connected_gene': 'TRAF5', 'score': 12.63}, {'connected_gene': 'SNX25P1', 'score': 0.29}]
chr1 GH01I211372 211372842 211375927 0.77 [{'connected_gene': 'LINC00467', 'score': 9.58}, {'connected_gene': 'TRAF5', 'score': 0.25}]
chr1 GH01I211376 211376798 211379201 1.14 [{'connected_gene': 'LINC00467', 'score': 9.73}, {'connected_gene': 'TRAF5', 'score': 0.23}]
chr1 GH01I211513 211513754 211518166 1.71 [{'connected_gene': 'SLC30A1', 'score': 17.38}, {'connected_gene': 'TRAF5', 'score': 12.18}, {'connected_gene': 'RCOR3', 'score': 11.17}, {'connected_gene': 'LINC00467', 'score': 6.43}, {'connected_gene': 'RD3', 'score': 0.34}, {'connected_gene': 'GC01M211578', 'score': 0.21}]
chr1 GH01I211326 211326170 211330695 2.43 [{'connected_gene': 'TRAF5', 'score': 558.12}, {'connected_gene': 'LINC00467', 'score': 17.62}, {'connected_gene': 'RCOR3', 'score': 11.72}, {'connected_gene': 'PPP2R5A', 'score': 4.75}]
chr1 GH01I211348 211348881 211350311 0.31 [{'connected_gene': 'TRAF5', 'score': 12.96}, {'connected_gene': 'LINC00467', 'score': 9.08}, {'connected_gene': 'RCOR3', 'score': 4.9}]
chr1 GH01I211358 211358834 211361831 0.43 [{'connected_gene': 'TRAF5', 'score': 12.53}, {'connected_gene': 'LINC00467', 'score': 6.9}, {'connected_gene': 'RCOR3', 'score': 4.89}]
chr1 GH01I211331 211331419 211331568 0.74 [{'connected_gene': 'TRAF5', 'score': 0.77}, {'connected_gene': 'LINC00467', 'score': 0.23}]
chr1 GH01I211338 211338892 211340300 0.66 [{'connected_gene': 'TRAF5', 'score': 0.39}, {'connected_gene': 'LINC00467', 'score': 0.26}]
chr1 GH01I211345 211345621 211346028 0.76 [{'connected_gene': 'TRAF5', 'score': 0.37}, {'connected_gene': 'LINC00467', 'score': 0.28}]
chr1 GH01I211340 211340992 211341401 0.51 [{'connected_gene': 'TRAF5', 'score': 0.39}, {'connected_gene': 'LINC00467', 'score': 0.26}]
chr1 GH01I211351 211351692 211354600 1.17 [{'connected_gene': 'TRAF5', 'score': 12.94}, {'connected_gene': 'RCOR3', 'score': 4.9}, {'connected_gene': 'LINC00467', 'score': 0.31}]
chr1 GH01I211420 211420296 211420360 0.53 [{'connected_gene': 'TRAF5', 'score': 2.4}, {'connected_gene': 'SNX25P1', 'score': 0.77}, {'connected_gene': 'GC01M211424', 'score': 0.77}, {'connected_gene': 'LINC00467', 'score': 0.28}]
chr1 GH01I211323 211323401 211323728 1.14 [{'connected_gene': 'TRAF5', 'score': 0.77}, {'connected_gene': 'GC01M211317', 'score': 0.44}]
chr1 GH01I211371 211371539 211371688 0.77 [{'connected_gene': 'RCOR3', 'score': 14.04}, {'connected_gene': 'LINC00467', 'score': 0.39}, {'connected_gene': 'TRAF5', 'score': 0.25}]
chr1 GH01I211332 211332990 211334382 0.76 [{'connected_gene': 'RCOR3', 'score': 12.15}, {'connected_gene': 'LINC00467', 'score': 5.17}, {'connected_gene': 'TRAF5', 'score': 0.44}]
chr1 GH01I211334 211334637 211338074 1.06 [{'connected_gene': 'RD3', 'score': 11.28}, {'connected_gene': 'ENSG00000223649', 'score': 11.28}, {'connected_gene': 'LINC00467', 'score': 7.32}, {'connected_gene': 'TRAF5', 'score': 0.44}]
chr1 GH01I211344 211344171 211344634 1.18 [{'connected_gene': 'RD3', 'score': 18.01}, {'connected_gene': 'TRAF5', 'score': 4.98}, {'connected_gene': 'LINC00467', 'score': 0.28}]
chr1 GH01I211573 211573781 211582600 2.71 [{'connected_gene': 'GC01M211578', 'score': 550.77}, {'connected_gene': 'SLC30A1', 'score': 550.77}, {'connected_gene': 'LINC00467', 'score': 5.87}, {'connected_gene': 'TRAF5', 'score': 2.87}, {'connected_gene': 'RD3', 'score': 0.17}]