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
ENST00000574923 [[10721357, 10721656], [10729620, 10729775], [10765566, 10765635]] None
ENST00000283025 [[10721357, 10721656], [10729620, 10729775], [10769815, 10770038], [10775849, 10775993], [10783109, 10783180], [10783798, 10783882], [10788166, 10788802]] [[10721439, 10721656], [10729620, 10729775], [10769815, 10770038], [10775849, 10775993], [10783109, 10783180], [10783798, 10783882], [10788166, 10788730]]
ENST00000576638 [[10729620, 10729775], [10769815, 10770038], [10775849, 10775993], [10783109, 10783180], [10783798, 10783976]] [[10729620, 10729775], [10769815, 10770038], [10775849, 10775993], [10783109, 10783147]]
NM_144674 [[10721360, 10721656], [10729620, 10729775], [10769815, 10770038], [10775849, 10775993], [10783109, 10783180], [10783798, 10783882], [10788166, 10788802]] [[10721439, 10721656], [10729620, 10729775], [10769815, 10770038], [10775849, 10775993], [10783109, 10783180], [10783798, 10783882], [10788166, 10788730]]
Promoter
Chrom Start End Description
chr16 10788754 10788768 CAGE_peak_2_at_TEKT5_5end
chr16 10788770 10788803 CAGE_peak_1_at_TEKT5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I010652 10652011 10653735 1.01 [{'connected_gene': 'SOCS1', 'score': 14.87}, {'connected_gene': 'HNRNPCP4', 'score': 14.3}, {'connected_gene': 'ENSG00000256013', 'score': 10.82}, {'connected_gene': 'NUBP1', 'score': 10.45}, {'connected_gene': 'LOC105371079', 'score': 0.28}, {'connected_gene': 'EMP2', 'score': 0.19}, {'connected_gene': 'TEKT5', 'score': 0.17}, {'connected_gene': 'GC16P010485', 'score': 0.1}]
chr16 GH16I010770 10770551 10771284 0.31 [{'connected_gene': 'CIITA', 'score': 12.14}, {'connected_gene': 'DEXI', 'score': 10.89}, {'connected_gene': 'CLEC16A', 'score': 10.89}, {'connected_gene': 'ENSG00000256013', 'score': 9.61}, {'connected_gene': 'TVP23A', 'score': 5.6}, {'connected_gene': 'TEKT5', 'score': 4.91}, {'connected_gene': 'PIR44837', 'score': 0.39}, {'connected_gene': 'GC16P010485', 'score': 0.06}]
chr16 GH16I010752 10752682 10754131 1.2 [{'connected_gene': 'CIITA', 'score': 15.33}, {'connected_gene': 'NUBP1', 'score': 7.2}, {'connected_gene': 'TEKT5', 'score': 6.82}, {'connected_gene': 'PIR44837', 'score': 0.44}, {'connected_gene': 'GC16P010485', 'score': 0.06}]
chr16 GH16I010608 10608496 10612339 1.3 [{'connected_gene': 'EMP2', 'score': 12.39}, {'connected_gene': 'CLEC16A', 'score': 5.04}, {'connected_gene': 'LOC105371079', 'score': 0.18}, {'connected_gene': 'GC16P010485', 'score': 0.13}, {'connected_gene': 'TEKT5', 'score': 0.12}]
chr16 GH16I010625 10625492 10626400 1.05 [{'connected_gene': 'EMP2', 'score': 0.25}, {'connected_gene': 'LOC105371079', 'score': 0.2}, {'connected_gene': 'TEKT5', 'score': 0.13}, {'connected_gene': 'GC16P010485', 'score': 0.11}]
chr16 GH16I010612 10612640 10613423 0.69 [{'connected_gene': 'EMP2', 'score': 12.37}, {'connected_gene': 'LOC105371079', 'score': 0.18}, {'connected_gene': 'TEKT5', 'score': 0.13}, {'connected_gene': 'GC16P010485', 'score': 0.13}]
chr16 GH16I010583 10583373 10583532 0.43 [{'connected_gene': 'EMP2', 'score': 0.77}, {'connected_gene': 'GC16P010485', 'score': 0.15}, {'connected_gene': 'LOC105371079', 'score': 0.14}, {'connected_gene': 'TEKT5', 'score': 0.1}]
chr16 GH16I010629 10629604 10629873 0.54 [{'connected_gene': 'EMP2', 'score': 0.25}, {'connected_gene': 'LOC105371079', 'score': 0.21}, {'connected_gene': 'TEKT5', 'score': 0.14}, {'connected_gene': 'GC16P010485', 'score': 0.11}]
chr16 GH16I010628 10628058 10629198 0.82 [{'connected_gene': 'EMP2', 'score': 0.25}, {'connected_gene': 'LOC105371079', 'score': 0.21}, {'connected_gene': 'TEKT5', 'score': 0.14}, {'connected_gene': 'GC16P010485', 'score': 0.11}]
chr16 GH16I010600 10600162 10603017 1.25 [{'connected_gene': 'EMP2', 'score': 0.34}, {'connected_gene': 'LOC105371079', 'score': 0.17}, {'connected_gene': 'GC16P010485', 'score': 0.13}, {'connected_gene': 'TEKT5', 'score': 0.11}]
chr16 GH16I010624 10624644 10624793 0.72 [{'connected_gene': 'EMP2', 'score': 0.26}, {'connected_gene': 'LOC105371079', 'score': 0.2}, {'connected_gene': 'TEKT5', 'score': 0.13}, {'connected_gene': 'GC16P010485', 'score': 0.12}]
chr16 GH16I010621 10621275 10623438 0.94 [{'connected_gene': 'EMP2', 'score': 0.26}, {'connected_gene': 'LOC105371079', 'score': 0.2}, {'connected_gene': 'TEKT5', 'score': 0.13}, {'connected_gene': 'GC16P010485', 'score': 0.12}]
chr16 GH16I010729 10729824 10729993 0.77 [{'connected_gene': 'TEKT5', 'score': 6.85}, {'connected_gene': 'MTATP6P24', 'score': 0.77}, {'connected_gene': 'GC16P010738', 'score': 0.44}, {'connected_gene': 'GC16P010485', 'score': 0.07}]
chr16 GH16I010694 10694920 10694979 0.61 [{'connected_gene': 'TEKT5', 'score': 550.25}, {'connected_gene': 'LOC105371079', 'score': 0.77}, {'connected_gene': 'MTCYBP33', 'score': 0.34}, {'connected_gene': 'GC16P010485', 'score': 0.08}]
chr16 GH16I010743 10742633 10746133 2.08 [{'connected_gene': 'TEKT5', 'score': 556.79}, {'connected_gene': 'NUBP1', 'score': 550.77}, {'connected_gene': 'HNRNPCP4', 'score': 12.48}, {'connected_gene': 'CIITA', 'score': 12.18}, {'connected_gene': 'ENSG00000256013', 'score': 11.07}, {'connected_gene': 'SOCS1', 'score': 10.2}, {'connected_gene': 'PIR44837', 'score': 0.39}, {'connected_gene': 'GC16P010485', 'score': 0.07}]
chr16 GH16I010690 10690718 10690873 0.4 [{'connected_gene': 'LOC105371079', 'score': 550.77}, {'connected_gene': 'TEKT5', 'score': 70.98}, {'connected_gene': 'CLEC16A', 'score': 2.87}, {'connected_gene': 'EMP2', 'score': 0.14}, {'connected_gene': 'GC16P010485', 'score': 0.08}]
chr16 GH16I010662 10662995 10663843 0.54 [{'connected_gene': 'LOC105371079', 'score': 0.31}, {'connected_gene': 'TEKT5', 'score': 0.18}, {'connected_gene': 'EMP2', 'score': 0.18}, {'connected_gene': 'GC16P010485', 'score': 0.1}]
chr16 GH16I010688 10688484 10688633 0.64 [{'connected_gene': 'LOC105371079', 'score': 0.77}, {'connected_gene': 'TEKT5', 'score': 0.23}, {'connected_gene': 'EMP2', 'score': 0.14}, {'connected_gene': 'GC16P010485', 'score': 0.08}]
chr16 GH16I010742 10742001 10742200 0.63 [{'connected_gene': 'NUBP1', 'score': 550.77}, {'connected_gene': 'TEKT5', 'score': 550.77}, {'connected_gene': 'ENSG00000256013', 'score': 11.07}, {'connected_gene': 'GC16P010738', 'score': 0.77}, {'connected_gene': 'GC16P010485', 'score': 0.07}]
chr16 GH16I010626 10626959 10627919 0.54 [{'connected_gene': 'HNRNPCP4', 'score': 14.71}, {'connected_gene': 'ENSG00000256013', 'score': 11.17}, {'connected_gene': 'SOCS1', 'score': 10.67}, {'connected_gene': 'EMP2', 'score': 0.25}, {'connected_gene': 'LOC105371079', 'score': 0.21}, {'connected_gene': 'TEKT5', 'score': 0.14}, {'connected_gene': 'GC16P010485', 'score': 0.11}]
chr16 GH16I010594 10594318 10599913 1.09 [{'connected_gene': 'HNRNPCP4', 'score': 14.71}, {'connected_gene': 'EMP2', 'score': 12.38}, {'connected_gene': 'ENSG00000256013', 'score': 10.97}, {'connected_gene': 'SOCS1', 'score': 10.67}, {'connected_gene': 'LOC105371079', 'score': 0.16}, {'connected_gene': 'GC16P010485', 'score': 0.14}, {'connected_gene': 'TEKT5', 'score': 0.11}]
chr16 GH16I010590 10590914 10593878 0.31 [{'connected_gene': 'ENSG00000256013', 'score': 10.98}, {'connected_gene': 'ATF7IP2', 'score': 4.69}, {'connected_gene': 'EMP2', 'score': 0.39}, {'connected_gene': 'LOC105371079', 'score': 0.15}, {'connected_gene': 'GC16P010485', 'score': 0.14}, {'connected_gene': 'TEKT5', 'score': 0.1}]
chr16 GH16I010918 10918268 10919493 1.58 [{'connected_gene': 'ENSG00000262222', 'score': 7.21}, {'connected_gene': 'CIITA', 'score': 3.15}, {'connected_gene': 'TVP23A', 'score': 3.04}, {'connected_gene': 'CLEC16A', 'score': 2.84}, {'connected_gene': 'TEKT5', 'score': 1.54}, {'connected_gene': 'GC16M010929', 'score': 0.39}, {'connected_gene': 'PIR39040', 'score': 0.39}, {'connected_gene': 'GC16P010903', 'score': 0.37}, {'connected_gene': 'GC16P010485', 'score': 0.04}]
chr16 GH16I010575 10575710 10581896 2.44 [{'connected_gene': 'ENSG00000260310', 'score': 560.33}, {'connected_gene': 'EMP2', 'score': 553.45}, {'connected_gene': 'SOCS1', 'score': 14.87}, {'connected_gene': 'HNRNPCP4', 'score': 14.29}, {'connected_gene': 'ENSG00000256013', 'score': 11.63}, {'connected_gene': 'NUBP1', 'score': 10.39}, {'connected_gene': 'LOC400499', 'score': 5.3}, {'connected_gene': 'ATF7IP2', 'score': 1.3}, {'connected_gene': 'GC16P010485', 'score': 0.16}, {'connected_gene': 'TEKT5', 'score': 0.1}]
chr16 GH16I010588 10588647 10590817 0.52 [{'connected_gene': 'ENSG00000256013', 'score': 10.78}, {'connected_gene': 'EMP2', 'score': 0.44}, {'connected_gene': 'LOC105371079', 'score': 0.15}, {'connected_gene': 'GC16P010485', 'score': 0.15}, {'connected_gene': 'TEKT5', 'score': 0.1}]
chr16 GH16I010584 10584553 10585793 0.2 [{'connected_gene': 'ENSG00000260310', 'score': 5.52}, {'connected_gene': 'EMP2', 'score': 0.77}, {'connected_gene': 'GC16P010485', 'score': 0.15}, {'connected_gene': 'LOC105371079', 'score': 0.14}, {'connected_gene': 'TEKT5', 'score': 0.1}]
chr16 GH16I010613 10613924 10614013 0.62 [{'connected_gene': 'ENSG00000256013', 'score': 11.01}, {'connected_gene': 'EMP2', 'score': 0.29}, {'connected_gene': 'LOC105371079', 'score': 0.18}, {'connected_gene': 'TEKT5', 'score': 0.13}, {'connected_gene': 'GC16P010485', 'score': 0.13}]
chr16 GH16I010615 10615734 10620579 1.66 [{'connected_gene': 'ENSG00000256013', 'score': 11.0}, {'connected_gene': 'EMP2', 'score': 5.51}, {'connected_gene': 'NUBP1', 'score': 5.46}, {'connected_gene': 'ENSG00000260310', 'score': 4.68}, {'connected_gene': 'GRIN2A', 'score': 4.42}, {'connected_gene': 'LOC105371079', 'score': 0.19}, {'connected_gene': 'TEKT5', 'score': 0.13}, {'connected_gene': 'GC16P010485', 'score': 0.12}]
chr16 GH16I010740 10740344 10740413 0.49 [{'connected_gene': 'ENSG00000256013', 'score': 11.32}, {'connected_gene': 'TEKT5', 'score': 0.77}, {'connected_gene': 'GC16P010738', 'score': 0.77}, {'connected_gene': 'GC16P010485', 'score': 0.07}]
chr16 GH16I010641 10641880 10643077 0.81 [{'connected_gene': 'ENSG00000256013', 'score': 10.17}, {'connected_gene': 'LOC105371079', 'score': 0.25}, {'connected_gene': 'EMP2', 'score': 0.21}, {'connected_gene': 'TEKT5', 'score': 0.15}, {'connected_gene': 'GC16P010485', 'score': 0.1}]
chr16 GH16I010665 10665186 10665435 0.4 [{'connected_gene': 'ENSG00000256013', 'score': 10.71}, {'connected_gene': 'LOC105371079', 'score': 0.31}, {'connected_gene': 'TEKT5', 'score': 0.18}, {'connected_gene': 'EMP2', 'score': 0.18}, {'connected_gene': 'GC16P010485', 'score': 0.1}]
chr16 GH16I010678 10678507 10679206 0.43 [{'connected_gene': 'ENSG00000256013', 'score': 10.12}, {'connected_gene': 'LOC105371079', 'score': 0.39}, {'connected_gene': 'TEKT5', 'score': 0.21}, {'connected_gene': 'EMP2', 'score': 0.15}, {'connected_gene': 'GC16P010485', 'score': 0.08}]
chr16 GH16I010736 10736684 10739553 1.25 [{'connected_gene': 'GC16P010738', 'score': 550.77}, {'connected_gene': 'ENSG00000256013', 'score': 11.32}, {'connected_gene': 'HNRNPCP4', 'score': 9.73}, {'connected_gene': 'TEKT5', 'score': 7.49}, {'connected_gene': 'TVP23A', 'score': 4.74}, {'connected_gene': 'MTATP6P24', 'score': 0.39}, {'connected_gene': 'GC16P010485', 'score': 0.07}]