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
ENST00000374050 [[117350025, 117350200], [117354831, 117354932], [117359849, 117360653]] [[117350118, 117350200], [117354831, 117354932], [117359849, 117360023]]
ENST00000473413 [[117350056, 117350398], [117354831, 117354959]] None
NM_004888 [[117349993, 117350200], [117354831, 117354932], [117359849, 117361152]] [[117350118, 117350200], [117354831, 117354932], [117359849, 117360023]]
Promoter
Chrom Start End Description
chr9 117349851 117349858 CAGE_peak_2_at_ATP6V1G1_5end
chr9 117350009 117350111 CAGE_peak_1_at_ATP6V1G1_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 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 GH09I114413 114413446 114415547 0.83 [{'connected_gene': 'TNFSF15', 'score': 24.84}, {'connected_gene': 'WHRN', 'score': 24.66}, {'connected_gene': 'TMEM268', 'score': 10.97}, {'connected_gene': 'ENSG00000201749', 'score': 10.97}, {'connected_gene': 'AKNA', 'score': 10.01}, {'connected_gene': 'ATP6V1G1', 'score': 4.15}, {'connected_gene': 'LOC100131877', 'score': 0.18}]
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 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 GH09I114360 114360857 114391414 2.75 [{'connected_gene': 'AKNA', 'score': 576.12}, {'connected_gene': 'WHRN', 'score': 27.79}, {'connected_gene': 'TMEM268', 'score': 11.11}, {'connected_gene': 'ENSG00000201749', 'score': 11.11}, {'connected_gene': 'ORM1', 'score': 5.94}, {'connected_gene': 'ORM2', 'score': 1.46}, {'connected_gene': 'ATP6V1G1', 'score': 1.42}, {'connected_gene': 'ENSG00000235119', 'score': 0.34}]
chr9 GH09I114246 114246355 114247123 0.4 [{'connected_gene': 'MIR455', 'score': 12.49}, {'connected_gene': 'COL27A1', 'score': 11.03}, {'connected_gene': 'ATP6V1G1', 'score': 5.5}, {'connected_gene': 'LOC105376224', 'score': 0.19}]
chr9 GH09I114249 114249350 114251055 0.89 [{'connected_gene': 'MIR455', 'score': 11.31}, {'connected_gene': 'COL27A1', 'score': 11.03}, {'connected_gene': 'ATP6V1G1', 'score': 6.08}, {'connected_gene': 'LOC105376224', 'score': 0.2}]
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 GH09I114409 114409537 114409690 0.69 [{'connected_gene': 'WHRN', 'score': 15.55}, {'connected_gene': 'TNFSF15', 'score': 4.94}, {'connected_gene': 'ATP6V1G1', 'score': 2.05}, {'connected_gene': 'AKNA', 'score': 0.39}, {'connected_gene': 'LOC100131877', 'score': 0.18}]
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 GH09I114582 114582365 114584693 0.43 [{'connected_gene': 'WHRN', 'score': 12.27}, {'connected_gene': 'ATP6V1G1', 'score': 0.77}, {'connected_gene': 'ENSG00000235797', 'score': 0.39}]
chr9 GH09I114317 114317576 114318772 1.24 [{'connected_gene': 'LOC105376224', 'score': 550.77}, {'connected_gene': 'ORM2', 'score': 10.5}, {'connected_gene': 'ATP6V1G1', 'score': 2.24}, {'connected_gene': 'ORM1', 'score': 2.22}, {'connected_gene': 'TNFSF15', 'score': 2.12}, {'connected_gene': 'MIR455', 'score': 0.14}]
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 GH09I114597 114597898 114599084 0.43 [{'connected_gene': 'PIR33481', 'score': 550.77}, {'connected_gene': 'GC09P114599', 'score': 550.77}, {'connected_gene': 'WHRN', 'score': 13.51}, {'connected_gene': 'TMEM268', 'score': 0.44}, {'connected_gene': 'ATP6V1G1', 'score': 0.39}]