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
ENST00000433211 [[67672275, 67680375], [67726369, 67726504], [67748449, 67748555], [67829065, 67829247], [67862914, 67863007], [68040227, 68040379], [68138909, 68139110], [68280374, 68280531], [68381449, 68381542], [68526021, 68526174], [68535201, 68535282], [68940074, 68940278], [68979364, 68979628], [69281599, 69281719], [69299260, 69299427], [69366614, 69366807], [69407172, 69407276], [69455757, 69455927]] [[67680087, 67680375], [67726369, 67726504], [67748449, 67748555], [67829065, 67829247], [67862914, 67863007], [68040227, 68040379], [68138909, 68139110], [68280374, 68280531], [68381449, 68381542], [68526021, 68526174], [68535201, 68535282], [68940074, 68940278], [68979364, 68979628], [69281599, 69281719], [69299260, 69299427], [69366614, 69366807], [69407172, 69407271]]
ENST00000373744 [[67679776, 67680375], [67726369, 67726504], [67748449, 67748555], [67829065, 67829247], [67862914, 67863007], [68040227, 68040379], [68138909, 68139110], [68280374, 68280531], [68381449, 68381542], [68526021, 68526174], [68535201, 68535282], [68940074, 68940278], [68979364, 68979628], [69281599, 69281719], [69299260, 69299427], [69366614, 69366807], [69407172, 69407271]] [[67680087, 67680375], [67726369, 67726504], [67748449, 67748555], [67829065, 67829247], [67862914, 67863007], [68040227, 68040379], [68138909, 68139110], [68280374, 68280531], [68381449, 68381542], [68526021, 68526174], [68535201, 68535282], [68940074, 68940278], [68979364, 68979628], [69281599, 69281719], [69299260, 69299427], [69366614, 69366807], [69407172, 69407271]]
ENST00000545309 [[68936658, 68936742], [68940074, 68940278], [68979364, 68979628], [69281599, 69281719], [69299260, 69299427], [69366614, 69366807], [69407172, 69407271]] [[68936658, 68936742], [68940074, 68940278], [68979364, 68979628], [69281599, 69281719], [69299260, 69299427], [69366614, 69366807], [69407172, 69407271]]
ENST00000373735 [[67679868, 67680375], [67726369, 67726504], [67748449, 67748555], [67829065, 67829247], [67838708, 67838861]] None
ENST00000494580 [[68525912, 68526174], [68535201, 68535282], [68940074, 68940201]] [[68526000, 68526174], [68535201, 68535282], [68940074, 68940201]]
ENST00000330298 [[69281599, 69281719], [69299260, 69299427], [69366614, 69366807], [69407172, 69407276], [69425298, 69425410]] [[69281599, 69281719], [69299260, 69299427], [69366614, 69366807], [69407172, 69407271]]
NM_001127384 [[67672275, 67680375], [67726369, 67726504], [67748449, 67748555], [67829065, 67829247], [67862914, 67863007], [68040227, 68040379], [68138909, 68139110], [68280374, 68280531], [68381449, 68381542], [68526021, 68526174], [68535201, 68535282], [68940074, 68940278], [68979364, 68979628], [69281599, 69281719], [69299260, 69299427], [69366614, 69366807], [69407172, 69407276], [69425298, 69425443]] [[67680087, 67680375], [67726369, 67726504], [67748449, 67748555], [67829065, 67829247], [67862914, 67863007], [68040227, 68040379], [68138909, 68139110], [68280374, 68280531], [68381449, 68381542], [68526021, 68526174], [68535201, 68535282], [68940074, 68940278], [68979364, 68979628], [69281599, 69281719], [69299260, 69299427], [69366614, 69366807], [69407172, 69407271]]
NM_013266 [[67672275, 67680375], [67726369, 67726504], [67748449, 67748555], [67829065, 67829247], [67862914, 67863007], [68040227, 68040379], [68138909, 68139110], [68280374, 68280531], [68381449, 68381542], [68526021, 68526174], [68535201, 68535282], [68940074, 68940278], [68979364, 68979628], [69281599, 69281719], [69299260, 69299427], [69366614, 69366807], [69407172, 69407276], [69455757, 69455949]] [[67680087, 67680375], [67726369, 67726504], [67748449, 67748555], [67829065, 67829247], [67862914, 67863007], [68040227, 68040379], [68138909, 68139110], [68280374, 68280531], [68381449, 68381542], [68526021, 68526174], [68535201, 68535282], [68940074, 68940278], [68979364, 68979628], [69281599, 69281719], [69299260, 69299427], [69366614, 69366807], [69407172, 69407271]]
NM_001291133 [[68935242, 68936742], [68940074, 68940278], [68979364, 68979628], [69281599, 69281719], [69299260, 69299427], [69366614, 69366807], [69407172, 69407276], [69408497, 69408574], [69425298, 69425443]] [[68936658, 68936742], [68940074, 68940278], [68979364, 68979628], [69281599, 69281719], [69299260, 69299427], [69366614, 69366807], [69407172, 69407276], [69408497, 69408528]]
Promoter
Chrom Start End Description
chr10 69425322 69425357 CAGE_peak_3_at_CTNNA3_5end
chr10 69425360 69425371 CAGE_peak_5_at_CTNNA3_5end
chr10 69425374 69425385 CAGE_peak_4_at_CTNNA3_5end
chr10 69425399 69425449 CAGE_peak_1_at_CTNNA3_5end
chr10 69455873 69455960 CAGE_peak_2_at_CTNNA3_5end
chr10 69455965 69455974 CAGE_peak_6_at_CTNNA3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I067042 67042354 67042543 0.22 [{'connected_gene': 'LRRTM3', 'score': 6.52}, {'connected_gene': 'GC10P067038', 'score': 0.77}, {'connected_gene': 'ENSG00000225299', 'score': 0.39}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I067104 67104221 67104392 0.22 [{'connected_gene': 'LRRTM3', 'score': 5.73}, {'connected_gene': 'GC10P067108', 'score': 0.77}, {'connected_gene': 'ENSG00000225299', 'score': 0.23}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I067073 67072022 67072225 0.23 [{'connected_gene': 'LRRTM3', 'score': 4.08}, {'connected_gene': 'ENSG00000225299', 'score': 0.37}, {'connected_gene': 'GC10P067108', 'score': 0.28}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I067072 67072501 67072755 0.24 [{'connected_gene': 'LRRTM3', 'score': 3.26}, {'connected_gene': 'ENSG00000225299', 'score': 0.34}, {'connected_gene': 'GC10P067108', 'score': 0.28}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I067043 67042782 67043494 0.28 [{'connected_gene': 'LRRTM3', 'score': 7.94}, {'connected_gene': 'GC10P067038', 'score': 0.77}, {'connected_gene': 'ENSG00000225299', 'score': 0.44}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I067002 67002513 67002703 0.22 [{'connected_gene': 'LRRTM3', 'score': 3.97}, {'connected_gene': 'LOC101928961', 'score': 0.44}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I066995 66995431 66995535 0.25 [{'connected_gene': 'LRRTM3', 'score': 6.29}, {'connected_gene': 'LOC101928961', 'score': 0.37}, {'connected_gene': 'CTNNA3', 'score': 0.02}]
chr10 GH10I066941 66941643 66941792 0.2 [{'connected_gene': 'LRRTM3', 'score': 0.37}, {'connected_gene': 'LOC101928961', 'score': 0.19}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I066925 66925492 66926534 1.24 [{'connected_gene': 'LRRTM3', 'score': 550.77}, {'connected_gene': 'LOC101928961', 'score': 0.17}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I066928 66928001 66928400 0.51 [{'connected_gene': 'LRRTM3', 'score': 0.77}, {'connected_gene': 'LOC101928961', 'score': 0.18}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I066931 66931503 66931632 0.6 [{'connected_gene': 'LRRTM3', 'score': 0.44}, {'connected_gene': 'LOC101928961', 'score': 0.18}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I066951 66951526 66952472 0.2 [{'connected_gene': 'LRRTM3', 'score': 0.31}, {'connected_gene': 'LOC101928961', 'score': 0.21}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I066969 66969203 66969598 0.22 [{'connected_gene': 'LRRTM3', 'score': 2.84}, {'connected_gene': 'LOC101928961', 'score': 0.26}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I066993 66993686 66993883 0.22 [{'connected_gene': 'LRRTM3', 'score': 3.97}, {'connected_gene': 'LOC101928961', 'score': 0.37}, {'connected_gene': 'CTNNA3', 'score': 0.02}]
chr10 GH10I066957 66957626 66959964 0.42 [{'connected_gene': 'LRRTM3', 'score': 3.37}, {'connected_gene': 'LOC101928961', 'score': 0.23}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I066960 66960523 66960928 0.22 [{'connected_gene': 'LRRTM3', 'score': 5.93}, {'connected_gene': 'LOC101928961', 'score': 0.23}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I066950 66950794 66951052 0.22 [{'connected_gene': 'LRRTM3', 'score': 6.24}, {'connected_gene': 'LOC101928961', 'score': 0.21}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I066961 66961557 66962106 0.27 [{'connected_gene': 'LRRTM3', 'score': 10.05}, {'connected_gene': 'LOC101928961', 'score': 0.23}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I067008 67008962 67009263 0.24 [{'connected_gene': 'LRRTM3', 'score': 4.84}, {'connected_gene': 'LOC101928961', 'score': 0.77}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I067665 67665623 67665772 0.49 [{'connected_gene': 'AKR1B10P1', 'score': 0.18}, {'connected_gene': 'CTNNA3', 'score': 0.15}, {'connected_gene': 'PIR34883', 'score': 0.1}]
chr10 GH10I067629 67629523 67629692 0.56 [{'connected_gene': 'AKR1B10P1', 'score': 0.13}, {'connected_gene': 'PIR34883', 'score': 0.12}, {'connected_gene': 'CTNNA3', 'score': 0.12}]
chr10 GH10I067666 67666603 67666692 0.68 [{'connected_gene': 'AKR1B10P1', 'score': 0.18}, {'connected_gene': 'CTNNA3', 'score': 0.15}, {'connected_gene': 'PIR34883', 'score': 0.1}]
chr10 GH10I067667 67665560 67665619 0.79 [{'connected_gene': 'CTNNA3', 'score': 550.15}, {'connected_gene': 'AKR1B10P1', 'score': 0.18}, {'connected_gene': 'PIR34883', 'score': 0.1}]
chr10 GH10I067696 67696142 67696201 0.61 [{'connected_gene': 'CTNNA3', 'score': 550.2}, {'connected_gene': 'AKR1B10P1', 'score': 0.23}, {'connected_gene': 'PIR34883', 'score': 0.08}]
chr10 GH10I067601 67601997 67603519 0.52 [{'connected_gene': 'CTNNA3', 'score': 17.73}, {'connected_gene': 'PIR34883', 'score': 0.14}, {'connected_gene': 'AKR1B10P1', 'score': 0.11}]
chr10 GH10I067521 67521043 67521172 0.57 [{'connected_gene': 'CTNNA3', 'score': 6.63}, {'connected_gene': 'PIR34883', 'score': 0.34}, {'connected_gene': 'AKR1B10P1', 'score': 0.07}]
chr10 GH10I067606 67606223 67608146 0.59 [{'connected_gene': 'CTNNA3', 'score': 18.07}, {'connected_gene': 'PIR34883', 'score': 0.14}, {'connected_gene': 'AKR1B10P1', 'score': 0.11}]
chr10 GH10I067761 67761748 67762162 0.38 [{'connected_gene': 'CTNNA3', 'score': 550.77}, {'connected_gene': 'AKR1B10P1', 'score': 0.39}]
chr10 GH10I067770 67770418 67773660 1 [{'connected_gene': 'CTNNA3', 'score': 10.21}, {'connected_gene': 'SIRT1', 'score': 7.98}, {'connected_gene': 'ATOH7', 'score': 5.32}, {'connected_gene': 'TRS-TGA1-1', 'score': 0.44}, {'connected_gene': 'RPL21P92', 'score': 0.34}]
chr10 GH10I067763 67763062 67765648 1.28 [{'connected_gene': 'CTNNA3', 'score': 558.68}, {'connected_gene': 'TRS-TGA1-1', 'score': 550.77}, {'connected_gene': 'CCAR1', 'score': 29.23}, {'connected_gene': 'HNRNPH3', 'score': 24.68}, {'connected_gene': 'HERC4', 'score': 20.39}, {'connected_gene': 'SIRT1', 'score': 12.6}, {'connected_gene': 'RUFY2', 'score': 11.55}, {'connected_gene': 'RPL26P27', 'score': 10.98}, {'connected_gene': 'TET1', 'score': 10.03}]
chr10 GH10I067762 67762801 67763000 0.2 [{'connected_gene': 'CTNNA3', 'score': 550.77}, {'connected_gene': 'TRS-TGA1-1', 'score': 550.77}, {'connected_gene': 'AKR1B10P1', 'score': 0.39}]
chr10 GH10I067780 67780003 67780192 0.77 [{'connected_gene': 'CTNNA3', 'score': 9.12}, {'connected_gene': 'RPL21P92', 'score': 0.39}, {'connected_gene': 'TRS-TGA1-1', 'score': 0.37}]
chr10 GH10I067492 67492383 67492712 0.62 [{'connected_gene': 'CTNNA3', 'score': 7.49}, {'connected_gene': 'PIR34883', 'score': 0.44}, {'connected_gene': 'PIR36242', 'score': 0.39}]
chr10 GH10I067697 67697763 67697932 0.59 [{'connected_gene': 'HERC4', 'score': 11.51}, {'connected_gene': 'RPL26P27', 'score': 10.07}, {'connected_gene': 'RPL12P8', 'score': 9.87}, {'connected_gene': 'HNRNPH3', 'score': 9.76}, {'connected_gene': 'AKR1B10P1', 'score': 0.23}, {'connected_gene': 'CTNNA3', 'score': 0.2}, {'connected_gene': 'PIR34883', 'score': 0.08}]
chr10 GH10I067802 67802733 67804412 0.92 [{'connected_gene': 'SIRT1', 'score': 15.96}, {'connected_gene': 'HNRNPH3', 'score': 10.51}, {'connected_gene': 'HERC4', 'score': 9.82}, {'connected_gene': 'CTNNA3', 'score': 5.71}, {'connected_gene': 'GC10P067809', 'score': 0.77}, {'connected_gene': 'GC10P067794', 'score': 0.44}, {'connected_gene': 'DNAJC12', 'score': 0.29}]
chr10 GH10I067860 67860690 67863572 0.8 [{'connected_gene': 'SIRT1', 'score': 20.45}, {'connected_gene': 'CTNNA3', 'score': 4.13}, {'connected_gene': 'RNU6-523P', 'score': 0.77}, {'connected_gene': 'RPL12P8', 'score': 0.39}]
chr10 GH10I067240 67240353 67242815 0.69 [{'connected_gene': 'ATOH7', 'score': 5.47}, {'connected_gene': 'PIR38309', 'score': 0.18}, {'connected_gene': 'RPL7AP51', 'score': 0.16}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I067438 67438775 67439732 0.31 [{'connected_gene': 'MIR7151', 'score': 0.28}, {'connected_gene': 'PIR36242', 'score': 0.26}, {'connected_gene': 'CTNNA3', 'score': 0.05}]
chr10 GH10I067401 67401863 67402052 0.38 [{'connected_gene': 'MIR7151', 'score': 550.77}, {'connected_gene': 'RPL7AP51', 'score': 0.2}, {'connected_gene': 'CTNNA3', 'score': 0.05}]
chr10 GH10I067387 67387002 67387599 0.38 [{'connected_gene': 'MIR7151', 'score': 0.37}, {'connected_gene': 'RPL7AP51', 'score': 0.23}, {'connected_gene': 'CTNNA3', 'score': 0.05}]
chr10 GH10I067330 67330585 67331671 0.2 [{'connected_gene': 'RPL7AP51', 'score': 0.77}, {'connected_gene': 'PIR38309', 'score': 0.09}, {'connected_gene': 'CTNNA3', 'score': 0.04}]
chr10 GH10I067259 67259423 67259532 0.63 [{'connected_gene': 'RPL7AP51', 'score': 0.19}, {'connected_gene': 'PIR38309', 'score': 0.15}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I067076 67076303 67076452 0.49 [{'connected_gene': 'ENSG00000225299', 'score': 0.34}, {'connected_gene': 'GC10P067108', 'score': 0.29}, {'connected_gene': 'LRRTM3', 'score': 0.1}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I066837 66837642 66838723 0.38 [{'connected_gene': 'ENSG00000277056', 'score': 550.77}, {'connected_gene': 'LRRTM3', 'score': 0.17}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I066877 66877035 66878046 0.2 [{'connected_gene': 'ENSG00000277056', 'score': 0.26}, {'connected_gene': 'LRRTM3', 'score': 0.25}, {'connected_gene': 'CTNNA3', 'score': 0.02}]
chr10 GH10I067036 67036976 67037225 0.22 [{'connected_gene': 'GC10P067037', 'score': 550.77}, {'connected_gene': 'GC10P067038', 'score': 550.77}, {'connected_gene': 'LRRTM3', 'score': 3.73}, {'connected_gene': 'LOC101928961', 'score': 0.34}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I067610 67610143 67610292 0.2 [{'connected_gene': 'PIR34883', 'score': 0.14}, {'connected_gene': 'AKR1B10P1', 'score': 0.11}, {'connected_gene': 'CTNNA3', 'score': 0.1}]
chr10 GH10I067613 67613123 67613432 0.7 [{'connected_gene': 'PIR34883', 'score': 0.13}, {'connected_gene': 'AKR1B10P1', 'score': 0.12}, {'connected_gene': 'CTNNA3', 'score': 0.1}]
chr10 GH10I066804 66804624 66805498 0.43 [{'connected_gene': 'ENSG00000277056', 'score': 0.29}, {'connected_gene': 'GC10P066636', 'score': 0.1}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I066836 66836102 66836315 0.46 [{'connected_gene': 'ENSG00000277056', 'score': 550.77}, {'connected_gene': 'GC10P066636', 'score': 0.08}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I066782 66782913 66783526 0.2 [{'connected_gene': 'ENSG00000277056', 'score': 0.23}, {'connected_gene': 'GC10P066636', 'score': 0.11}, {'connected_gene': 'CTNNA3', 'score': 0.02}]
chr10 GH10I067115 67115043 67115192 0.74 [{'connected_gene': 'GC10P067108', 'score': 0.44}, {'connected_gene': 'PIR38309', 'score': 0.26}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I066799 66799602 66799799 0.31 [{'connected_gene': 'ENSG00000277056', 'score': 0.28}, {'connected_gene': 'GC10P066636', 'score': 0.1}, {'connected_gene': 'CTNNA3', 'score': 0.03}]
chr10 GH10I067230 67230340 67231400 0.83 [{'connected_gene': 'PIR38309', 'score': 0.19}, {'connected_gene': 'RPL7AP51', 'score': 0.15}, {'connected_gene': 'CTNNA3', 'score': 0.03}]