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
ENST00000474301 [[117656002, 117656444], [117666506, 117666588]] None
ENST00000223795 [[117665123, 117666605], [117668107, 117668179], [117680375, 117680418], [117692388, 117692697]] [[117666210, 117666605], [117668107, 117668179], [117680375, 117680418], [117692388, 117692583]]
NM_001252290 [[117655622, 117656444], [117666506, 117666605], [117668107, 117668179], [117680375, 117680418], [117692388, 117692875]] [[117656358, 117656444], [117666506, 117666605], [117668107, 117668179], [117680375, 117680418], [117692388, 117692583]]
NM_001244 [[117663424, 117666605], [117668107, 117668179], [117680375, 117680418], [117692388, 117692875]] [[117666210, 117666605], [117668107, 117668179], [117680375, 117680418], [117692388, 117692583]]
Promoter
Chrom Start End Description
chr9 117692637 117692641 CAGE_peak_4_at_TNFSF8_5end
chr9 117692733 117692744 CAGE_peak_2_at_TNFSF8_5end
chr9 117692787 117692876 CAGE_peak_1_at_TNFSF8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I114884 114884519 114885646 1.34 [{'connected_gene': 'TNFSF15', 'score': 21.52}, {'connected_gene': 'ATP6V1G1', 'score': 2.22}, {'connected_gene': 'TNFSF8', 'score': 1.4}, {'connected_gene': 'GC09P114903', 'score': 0.37}, {'connected_gene': 'LOC645266', 'score': 0.28}]
chr9 GH09I114883 114883745 114884246 0.55 [{'connected_gene': 'TNFSF15', 'score': 31.72}, {'connected_gene': 'ATP6V1G1', 'score': 3.81}, {'connected_gene': 'TNFSF8', 'score': 3.22}, {'connected_gene': 'WHRN', 'score': 1.64}, {'connected_gene': 'GC09P114903', 'score': 0.37}, {'connected_gene': 'LOC645266', 'score': 0.28}]
chr9 GH09I114892 114892906 114896452 1.58 [{'connected_gene': 'TNFSF15', 'score': 34.86}, {'connected_gene': 'TNFSF8', 'score': 17.6}, {'connected_gene': 'ATP6V1G1', 'score': 3.83}, {'connected_gene': 'WHRN', 'score': 1.86}, {'connected_gene': 'GC09P114903', 'score': 0.44}, {'connected_gene': 'LOC645266', 'score': 0.25}]
chr9 GH09I114906 114906104 114911130 1.66 [{'connected_gene': 'TNFSF15', 'score': 24.59}, {'connected_gene': 'TNFSF8', 'score': 17.66}, {'connected_gene': 'ATP6V1G1', 'score': 5.05}, {'connected_gene': 'WHRN', 'score': 2.35}, {'connected_gene': 'GC09P114903', 'score': 0.44}]
chr9 GH09I114889 114889601 114890201 0.6 [{'connected_gene': 'TNFSF15', 'score': 10.49}, {'connected_gene': 'TNFSF8', 'score': 10.02}, {'connected_gene': 'GC09P114903', 'score': 0.39}, {'connected_gene': 'LOC645266', 'score': 0.26}]
chr9 GH09I114724 114724041 114724210 0.31 [{'connected_gene': 'TNFSF15', 'score': 10.95}, {'connected_gene': 'TNFSF8', 'score': 10.71}, {'connected_gene': 'ENSG00000201749', 'score': 10.48}, {'connected_gene': 'TMEM268', 'score': 10.47}, {'connected_gene': 'LOC105376231', 'score': 0.31}, {'connected_gene': 'ENSG00000274919', 'score': 0.23}]
chr9 GH09I114731 114731443 114734954 0.68 [{'connected_gene': 'TNFSF15', 'score': 10.83}, {'connected_gene': 'TNFSF8', 'score': 10.52}, {'connected_gene': 'LOC105376231', 'score': 0.28}, {'connected_gene': 'ENSG00000274919', 'score': 0.26}]
chr9 GH09I114735 114735800 114736001 0.74 [{'connected_gene': 'TNFSF15', 'score': 10.83}, {'connected_gene': 'TNFSF8', 'score': 10.53}, {'connected_gene': 'ENSG00000274919', 'score': 0.28}, {'connected_gene': 'LOC105376231', 'score': 0.28}]
chr9 GH09I114745 114745581 114745730 0.2 [{'connected_gene': 'TNFSF15', 'score': 11.5}, {'connected_gene': 'TNFSF8', 'score': 10.69}, {'connected_gene': 'ENSG00000274919', 'score': 0.31}, {'connected_gene': 'LOC105376231', 'score': 0.25}]
chr9 GH09I114738 114738506 114739424 0.94 [{'connected_gene': 'TNFSF15', 'score': 11.07}, {'connected_gene': 'TNFSF8', 'score': 10.32}, {'connected_gene': 'ENSG00000274919', 'score': 0.28}, {'connected_gene': 'LOC105376231', 'score': 0.26}]
chr9 GH09I114746 114746721 114746890 0.2 [{'connected_gene': 'TNFSF15', 'score': 11.51}, {'connected_gene': 'TNFSF8', 'score': 10.69}, {'connected_gene': 'ENSG00000274919', 'score': 0.31}, {'connected_gene': 'LOC105376231', 'score': 0.25}]
chr9 GH09I114912 114912678 114916226 0.31 [{'connected_gene': 'TNFSF15', 'score': 11.0}, {'connected_gene': 'GC09P114903', 'score': 0.39}, {'connected_gene': 'TNFSF8', 'score': 0.37}]
chr9 GH09I114778 114778448 114780417 0.98 [{'connected_gene': 'TNFSF15', 'score': 11.7}, {'connected_gene': 'TNFSF8', 'score': 4.73}, {'connected_gene': 'ENSG00000274919', 'score': 0.77}]
chr9 GH09I114555 114555252 114555392 0.35 [{'connected_gene': 'TNFSF15', 'score': 7.51}, {'connected_gene': 'WHRN', 'score': 4.77}, {'connected_gene': 'ATP6V1G1', 'score': 3.66}, {'connected_gene': 'TNFSF8', 'score': 1.66}, {'connected_gene': 'LOC105376229', 'score': 0.39}]
chr9 GH09I114586 114586628 114593867 2.51 [{'connected_gene': 'ATP6V1G1', 'score': 551.87}, {'connected_gene': 'WHRN', 'score': 44.41}, {'connected_gene': 'ZNF618', 'score': 13.24}, {'connected_gene': 'ENSG00000201749', 'score': 12.96}, {'connected_gene': 'COL27A1', 'score': 10.64}, {'connected_gene': 'TMEM268', 'score': 4.71}, {'connected_gene': 'TNFSF8', 'score': 1.77}, {'connected_gene': 'AKNA', 'score': 1.16}, {'connected_gene': 'PIR33481', 'score': 0.44}, {'connected_gene': 'GC09P114599', 'score': 0.44}]
chr9 GH09I115004 115004540 115004843 0.48 [{'connected_gene': 'TNFSF8', 'score': 21.42}, {'connected_gene': 'TNFSF15', 'score': 10.63}, {'connected_gene': 'ATP6V1G1', 'score': 2.75}, {'connected_gene': 'WHRN', 'score': 1.62}, {'connected_gene': 'GC09M115052', 'score': 0.25}]
chr9 GH09I114989 114989032 114989784 1.22 [{'connected_gene': 'TNFSF8', 'score': 27.22}, {'connected_gene': 'TNFSF15', 'score': 5.91}, {'connected_gene': 'ATP6V1G1', 'score': 2.9}, {'connected_gene': 'WHRN', 'score': 1.76}, {'connected_gene': 'GC09M115052', 'score': 0.21}]
chr9 GH09I114953 114953308 114955800 1.43 [{'connected_gene': 'TNFSF8', 'score': 30.9}, {'connected_gene': 'TNFSF15', 'score': 9.39}, {'connected_gene': 'ATP6V1G1', 'score': 3.86}, {'connected_gene': 'WHRN', 'score': 1.88}, {'connected_gene': 'GC09M115052', 'score': 0.15}]
chr9 GH09I114956 114956931 114959374 1.23 [{'connected_gene': 'TNFSF8', 'score': 26.0}, {'connected_gene': 'TNFSF15', 'score': 5.29}, {'connected_gene': 'ATP6V1G1', 'score': 3.46}, {'connected_gene': 'WHRN', 'score': 1.96}, {'connected_gene': 'GC09M115052', 'score': 0.16}]
chr9 GH09I114968 114968271 114969490 1.2 [{'connected_gene': 'TNFSF8', 'score': 26.54}, {'connected_gene': 'TNFSF15', 'score': 16.71}, {'connected_gene': 'ATP6V1G1', 'score': 3.49}, {'connected_gene': 'WHRN', 'score': 1.4}, {'connected_gene': 'GC09M115052', 'score': 0.18}]
chr9 GH09I114921 114921339 114921492 0.49 [{'connected_gene': 'TNFSF8', 'score': 16.25}, {'connected_gene': 'TNFSF15', 'score': 4.91}, {'connected_gene': 'ATP6V1G1', 'score': 3.01}, {'connected_gene': 'WHRN', 'score': 1.28}, {'connected_gene': 'GC09P114903', 'score': 0.37}]
chr9 GH09I115008 115008284 115009266 1.17 [{'connected_gene': 'TNFSF8', 'score': 27.21}, {'connected_gene': 'TNFSF15', 'score': 5.46}, {'connected_gene': 'ATP6V1G1', 'score': 2.66}, {'connected_gene': 'GC09M115052', 'score': 0.26}]
chr9 GH09I114998 114998404 114998847 0.27 [{'connected_gene': 'TNFSF8', 'score': 23.69}, {'connected_gene': 'TNFSF15', 'score': 15.84}, {'connected_gene': 'ATP6V1G1', 'score': 2.16}, {'connected_gene': 'GC09M115052', 'score': 0.23}]
chr9 GH09I114970 114970174 114970540 0.25 [{'connected_gene': 'TNFSF8', 'score': 19.21}, {'connected_gene': 'TNFSF15', 'score': 11.06}, {'connected_gene': 'ATP6V1G1', 'score': 1.49}, {'connected_gene': 'GC09M115052', 'score': 0.18}]
chr9 GH09I115006 115006609 115007376 1.15 [{'connected_gene': 'TNFSF8', 'score': 25.42}, {'connected_gene': 'TNFSF15', 'score': 19.83}, {'connected_gene': 'ATP6V1G1', 'score': 3.27}, {'connected_gene': 'GC09M115052', 'score': 0.25}]
chr9 GH09I114999 114999989 115000536 0.64 [{'connected_gene': 'TNFSF8', 'score': 22.67}, {'connected_gene': 'TNFSF15', 'score': 20.25}, {'connected_gene': 'TNC', 'score': 9.73}, {'connected_gene': 'ATP6V1G1', 'score': 2.58}, {'connected_gene': 'WHRN', 'score': 1.33}, {'connected_gene': 'GC09M115052', 'score': 0.23}]
chr9 GH09I115016 115016376 115016682 0.58 [{'connected_gene': 'TNFSF8', 'score': 23.03}, {'connected_gene': 'TNFSF15', 'score': 18.89}, {'connected_gene': 'ENSG00000201749', 'score': 9.95}, {'connected_gene': 'TMEM268', 'score': 9.95}, {'connected_gene': 'ATP6V1G1', 'score': 3.14}, {'connected_gene': 'GC09M115052', 'score': 0.28}]
chr9 GH09I115012 115012209 115012551 0.22 [{'connected_gene': 'TNFSF8', 'score': 15.47}, {'connected_gene': 'TNFSF15', 'score': 12.35}, {'connected_gene': 'ENSG00000201749', 'score': 9.95}, {'connected_gene': 'TMEM268', 'score': 9.95}, {'connected_gene': 'ATP6V1G1', 'score': 1.43}, {'connected_gene': 'GC09M115052', 'score': 0.26}]
chr9 GH09I115017 115017964 115019965 0.69 [{'connected_gene': 'TNFSF8', 'score': 10.59}, {'connected_gene': 'TNFSF15', 'score': 10.34}, {'connected_gene': 'ENSG00000201749', 'score': 9.95}, {'connected_gene': 'TMEM268', 'score': 9.95}, {'connected_gene': 'GC09M115052', 'score': 0.29}, {'connected_gene': 'TNC', 'score': 0.15}]
chr9 GH09I115014 115014102 115014271 0.6 [{'connected_gene': 'TNFSF8', 'score': 10.6}, {'connected_gene': 'TNFSF15', 'score': 10.34}, {'connected_gene': 'ENSG00000201749', 'score': 9.95}, {'connected_gene': 'TMEM268', 'score': 9.95}, {'connected_gene': 'GC09M115052', 'score': 0.28}]
chr9 GH09I114905 114905047 114905441 0.34 [{'connected_gene': 'TNFSF8', 'score': 11.46}, {'connected_gene': 'TNFSF15', 'score': 3.43}, {'connected_gene': 'GC09P114903', 'score': 0.77}]
chr9 GH09I114981 114981241 114981330 0.82 [{'connected_gene': 'TNFSF8', 'score': 10.5}, {'connected_gene': 'TNFSF15', 'score': 9.89}, {'connected_gene': 'GC09M115052', 'score': 0.19}]
chr9 GH09I114927 114927182 114932075 1.99 [{'connected_gene': 'TNFSF8', 'score': 580.9}, {'connected_gene': 'ATP6V1G1', 'score': 4.95}, {'connected_gene': 'TNFSF15', 'score': 4.37}, {'connected_gene': 'WHRN', 'score': 2.14}, {'connected_gene': 'GC09P114903', 'score': 0.31}]
chr9 GH09I114721 114721182 114722378 0.94 [{'connected_gene': 'TNFSF8', 'score': 10.31}, {'connected_gene': 'LOC105376231', 'score': 0.34}, {'connected_gene': 'ENSG00000274919', 'score': 0.23}]
chr9 GH09I114717 114717970 114720102 1.07 [{'connected_gene': 'TNFSF8', 'score': 5.36}, {'connected_gene': 'LOC105376231', 'score': 0.34}, {'connected_gene': 'ENSG00000274919', 'score': 0.22}]
chr9 GH09I114916 114916459 114918102 0.2 [{'connected_gene': 'TNFSF8', 'score': 0.39}, {'connected_gene': 'GC09P114903', 'score': 0.37}]
chr9 GH09I114925 114925781 114925930 0.63 [{'connected_gene': 'TNFSF8', 'score': 0.77}, {'connected_gene': 'GC09P114903', 'score': 0.34}]
chr9 GH09I114938 114938635 114939938 0.31 [{'connected_gene': 'TNFSF8', 'score': 0.44}, {'connected_gene': 'GC09M115052', 'score': 0.14}]
chr9 GH09I114922 114922343 114923553 0.2 [{'connected_gene': 'TNFSF8', 'score': 0.44}, {'connected_gene': 'GC09P114903', 'score': 0.34}]
chr9 GH09I114972 114972476 114973877 0.31 [{'connected_gene': 'TNFSF8', 'score': 0.26}, {'connected_gene': 'GC09M115052', 'score': 0.18}]
chr9 GH09I114918 114918867 114920703 0.2 [{'connected_gene': 'TNFSF8', 'score': 0.39}, {'connected_gene': 'GC09P114903', 'score': 0.37}]
chr9 GH09I114990 114989804 114990279 0.79 [{'connected_gene': 'TNFSF8', 'score': 11.22}, {'connected_gene': 'GC09M115052', 'score': 0.21}]
chr9 GH09I114995 114995423 114996410 0.6 [{'connected_gene': 'TNFSF8', 'score': 11.21}, {'connected_gene': 'GC09M115052', 'score': 0.22}]
chr9 GH09I115024 115024856 115025663 0.31 [{'connected_gene': 'TNC', 'score': 9.75}, {'connected_gene': 'GC09M115052', 'score': 0.31}, {'connected_gene': 'TNFSF8', 'score': 0.16}]
chr9 GH09I115034 115034376 115037518 1.22 [{'connected_gene': 'TNC', 'score': 10.03}, {'connected_gene': 'GC09M115052', 'score': 0.37}, {'connected_gene': 'TNFSF8', 'score': 0.14}]
chr9 GH09I115030 115030182 115030331 0.2 [{'connected_gene': 'TNC', 'score': 9.76}, {'connected_gene': 'GC09M115052', 'score': 0.34}, {'connected_gene': 'TNFSF8', 'score': 0.15}]
chr9 GH09I114550 114550617 114554297 1.45 [{'connected_gene': 'WHRN', 'score': 35.68}, {'connected_gene': 'TNFSF15', 'score': 15.76}, {'connected_gene': 'ATP6V1G1', 'score': 4.87}, {'connected_gene': 'TNFSF8', 'score': 4.71}, {'connected_gene': 'LOC105376229', 'score': 0.39}]
chr9 GH09I114483 114483161 114485670 1.67 [{'connected_gene': 'WHRN', 'score': 25.66}, {'connected_gene': 'TNFSF15', 'score': 19.8}, {'connected_gene': 'TNFSF8', 'score': 4.38}, {'connected_gene': 'ATP6V1G1', 'score': 4.35}, {'connected_gene': 'LOC100131877', 'score': 0.44}, {'connected_gene': 'AKNA', 'score': 0.17}]
chr9 GH09I114897 114897326 114903764 1.21 [{'connected_gene': 'GC09P114903', 'score': 550.77}, {'connected_gene': 'TNFSF8', 'score': 27.63}, {'connected_gene': 'TNFSF15', 'score': 19.14}, {'connected_gene': 'ATP6V1G1', 'score': 5.22}, {'connected_gene': 'WHRN', 'score': 3.25}, {'connected_gene': 'LOC645266', 'score': 0.23}]
chr9 GH09I115022 115022356 115024593 0.66 [{'connected_gene': 'GC09M115052', 'score': 0.31}, {'connected_gene': 'TNFSF8', 'score': 0.16}, {'connected_gene': 'TNC', 'score': 0.16}]
chr9 GH09I115041 115041702 115045364 0.57 [{'connected_gene': 'GC09M115052', 'score': 0.44}, {'connected_gene': 'TNC', 'score': 0.19}, {'connected_gene': 'TNFSF8', 'score': 0.14}]
chr9 GH09I115046 115046922 115047071 0.2 [{'connected_gene': 'GC09M115052', 'score': 0.44}, {'connected_gene': 'TNC', 'score': 0.19}, {'connected_gene': 'TNFSF8', 'score': 0.13}]
chr9 GH09I114696 114696684 114698060 0.72 [{'connected_gene': 'ENSG00000230284', 'score': 550.77}, {'connected_gene': 'LOC105376231', 'score': 550.77}, {'connected_gene': 'TNFSF15', 'score': 10.8}, {'connected_gene': 'TNFSF8', 'score': 10.04}, {'connected_gene': 'ENSG00000274919', 'score': 0.18}]