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
ENST00000273861 [[48485359, 48486168], [48486948, 48487159], [48490443, 48491213]] [[48485578, 48486168], [48486948, 48487159], [48490443, 48490956]]
NM_152679 [[48485359, 48486168], [48486948, 48487159], [48490443, 48491541]] [[48485578, 48486168], [48486948, 48487159], [48490443, 48490956]]
Promoter
Chrom Start End Description
chr4 48485147 48485178 CAGE_peak_6_at_SLC10A4_5end
chr4 48485220 48485230 CAGE_peak_10_at_SLC10A4_5end
chr4 48485239 48485249 CAGE_peak_9_at_SLC10A4_5end
chr4 48485341 48485394 CAGE_peak_1_at_SLC10A4_5end
chr4 48485400 48485411 CAGE_peak_3_at_SLC10A4_5end
chr4 48485413 48485423 CAGE_peak_5_at_SLC10A4_5end
chr4 48485436 48485441 CAGE_peak_12_at_SLC10A4_5end
chr4 48485486 48485499 CAGE_peak_2_at_SLC10A4_5end
chr4 48485501 48485512 CAGE_peak_7_at_SLC10A4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I048260 48260879 48262210 0.43 [{'connected_gene': 'TXK', 'score': 10.61}, {'connected_gene': 'SLAIN2', 'score': 4.94}, {'connected_gene': 'OCIAD1', 'score': 4.62}, {'connected_gene': 'SLC10A4', 'score': 4.52}, {'connected_gene': 'TEC', 'score': 0.44}, {'connected_gene': 'GC04M048219', 'score': 0.26}]
chr4 GH04I048263 48263000 48263201 0.51 [{'connected_gene': 'TXK', 'score': 10.43}, {'connected_gene': 'SLC10A4', 'score': 4.52}, {'connected_gene': 'TEC', 'score': 0.44}, {'connected_gene': 'GC04M048219', 'score': 0.26}]
chr4 GH04I048380 48380402 48381200 0.38 [{'connected_gene': 'SLAIN2', 'score': 7.73}, {'connected_gene': 'GC04M048339', 'score': 0.28}, {'connected_gene': 'SLC10A4', 'score': 0.15}]
chr4 GH04I048336 48336820 48343753 2.26 [{'connected_gene': 'SLAIN2', 'score': 558.19}, {'connected_gene': 'TEC', 'score': 14.14}, {'connected_gene': 'ZAR1', 'score': 10.32}, {'connected_gene': 'TXK', 'score': 10.06}, {'connected_gene': 'SLC10A4', 'score': 5.85}, {'connected_gene': 'GC04M048339', 'score': 0.77}, {'connected_gene': 'GC04M048291', 'score': 0.28}]
chr4 GH04I048697 48697412 48701886 1.33 [{'connected_gene': 'OCIAD1', 'score': 12.14}, {'connected_gene': 'SLC10A4', 'score': 6.29}, {'connected_gene': 'CWH43', 'score': 3.92}, {'connected_gene': 'GC04P048658', 'score': 0.26}, {'connected_gene': 'FRYL', 'score': 0.18}]
chr4 GH04I048663 48663952 48670228 0.82 [{'connected_gene': 'OCIAD1', 'score': 7.91}, {'connected_gene': 'SLC10A4', 'score': 6.72}, {'connected_gene': 'GC04P048658', 'score': 0.44}, {'connected_gene': 'FRYL', 'score': 0.14}]
chr4 GH04I048728 48728784 48729884 0.77 [{'connected_gene': 'OCIAD1', 'score': 12.98}, {'connected_gene': 'SLC10A4', 'score': 4.04}, {'connected_gene': 'FRYL', 'score': 0.23}, {'connected_gene': 'GC04P048658', 'score': 0.19}]
chr4 GH04I048783 48783548 48789537 0.6 [{'connected_gene': 'OCIAD1', 'score': 12.57}, {'connected_gene': 'SLC10A4', 'score': 6.34}, {'connected_gene': 'FRYL', 'score': 0.44}]
chr4 GH04I048746 48746107 48747413 0.38 [{'connected_gene': 'OCIAD1', 'score': 8.19}, {'connected_gene': 'SLC10A4', 'score': 6.28}, {'connected_gene': 'FRYL', 'score': 0.29}, {'connected_gene': 'GC04P048658', 'score': 0.17}]
chr4 GH04I048898 48898700 48900464 0.95 [{'connected_gene': 'OCIAD1', 'score': 8.11}, {'connected_gene': 'SLC10A4', 'score': 4.92}, {'connected_gene': 'OCIAD2', 'score': 0.44}, {'connected_gene': 'OCIAD1-AS1', 'score': 0.28}, {'connected_gene': 'GC04M048853', 'score': 0.23}]
chr4 GH04I048683 48683626 48685033 1.16 [{'connected_gene': 'OCIAD1', 'score': 7.86}, {'connected_gene': 'SLC10A4', 'score': 6.29}, {'connected_gene': 'CNGA1', 'score': 4.37}, {'connected_gene': 'GC04P048658', 'score': 0.31}, {'connected_gene': 'FRYL', 'score': 0.15}]
chr4 GH04I048638 48638739 48643991 0.38 [{'connected_gene': 'OCIAD1', 'score': 20.14}, {'connected_gene': 'SLC10A4', 'score': 6.12}, {'connected_gene': 'GC04P048658', 'score': 0.37}, {'connected_gene': 'RNU5E-3P', 'score': 0.2}, {'connected_gene': 'FRYL', 'score': 0.12}]
chr4 GH04I048645 48645141 48649296 0.38 [{'connected_gene': 'OCIAD1', 'score': 22.97}, {'connected_gene': 'SLC10A4', 'score': 6.31}, {'connected_gene': 'GC04P048658', 'score': 0.39}, {'connected_gene': 'RNU5E-3P', 'score': 0.19}, {'connected_gene': 'FRYL', 'score': 0.12}]
chr4 GH04I048725 48725588 48727660 1.28 [{'connected_gene': 'OCIAD1', 'score': 23.02}, {'connected_gene': 'NFXL1', 'score': 4.99}, {'connected_gene': 'SLC10A4', 'score': 4.94}, {'connected_gene': 'FRYL', 'score': 0.23}, {'connected_gene': 'GC04P048658', 'score': 0.2}]
chr4 GH04I048756 48756801 48757000 0.31 [{'connected_gene': 'OCIAD1', 'score': 13.02}, {'connected_gene': 'OCIAD1-AS1', 'score': 10.18}, {'connected_gene': 'SLC10A4', 'score': 5.62}, {'connected_gene': 'FRYL', 'score': 0.34}, {'connected_gene': 'GC04P048658', 'score': 0.15}]
chr4 GH04I048629 48629086 48632096 0.74 [{'connected_gene': 'OCIAD1', 'score': 12.73}, {'connected_gene': 'OCIAD1-AS1', 'score': 10.23}, {'connected_gene': 'SLC10A4', 'score': 5.33}, {'connected_gene': 'NFXL1', 'score': 4.9}, {'connected_gene': 'GC04P048658', 'score': 0.31}, {'connected_gene': 'RNU5E-3P', 'score': 0.22}, {'connected_gene': 'FRYL', 'score': 0.11}]
chr4 GH04I048489 48489523 48491649 0.96 [{'connected_gene': 'ZAR1', 'score': 550.77}, {'connected_gene': 'OCIAD1', 'score': 12.57}, {'connected_gene': 'SLC10A4', 'score': 8.27}, {'connected_gene': 'ENSG00000259959', 'score': 5.37}, {'connected_gene': 'RNU5E-3P', 'score': 0.18}]
chr4 GH04I048775 48775018 48781849 2.44 [{'connected_gene': 'FRYL', 'score': 550.77}, {'connected_gene': 'OCIAD1', 'score': 24.27}, {'connected_gene': 'SLAIN2', 'score': 23.64}, {'connected_gene': 'NFXL1', 'score': 16.75}, {'connected_gene': 'TEC', 'score': 10.76}, {'connected_gene': 'SLC10A4', 'score': 6.27}, {'connected_gene': 'GC04P048658', 'score': 0.13}]
chr4 GH04I048359 48359661 48361843 0.69 [{'connected_gene': 'SLC10A4', 'score': 8.84}, {'connected_gene': 'SLAIN2', 'score': 7.78}, {'connected_gene': 'COMMD8', 'score': 4.6}, {'connected_gene': 'GC04M048339', 'score': 0.37}]
chr4 GH04I048375 48375311 48376693 1.03 [{'connected_gene': 'SLC10A4', 'score': 8.97}, {'connected_gene': 'SLAIN2', 'score': 0.29}, {'connected_gene': 'GC04M048339', 'score': 0.29}]
chr4 GH04I048654 48654401 48654600 0.74 [{'connected_gene': 'SLC10A4', 'score': 6.05}, {'connected_gene': 'GC04P048658', 'score': 0.77}, {'connected_gene': 'RNU5E-3P', 'score': 0.18}, {'connected_gene': 'FRYL', 'score': 0.13}]
chr4 GH04I048650 48650290 48651285 0.46 [{'connected_gene': 'SLC10A4', 'score': 7.82}, {'connected_gene': 'GC04P048658', 'score': 0.44}, {'connected_gene': 'RNU5E-3P', 'score': 0.18}, {'connected_gene': 'FRYL', 'score': 0.13}]
chr4 GH04I048483 48483306 48483365 0.99 [{'connected_gene': 'SLC10A4', 'score': 550.77}, {'connected_gene': 'GC04M048339', 'score': 0.11}]
chr4 GH04I048600 48600905 48605478 0.62 [{'connected_gene': 'RNU5E-3P', 'score': 12.89}, {'connected_gene': 'FRYL', 'score': 12.67}, {'connected_gene': 'OCIAD1', 'score': 12.56}, {'connected_gene': 'OCIAD1-AS1', 'score': 10.27}, {'connected_gene': 'SLC10A4', 'score': 6.77}, {'connected_gene': 'NFXL1', 'score': 4.91}, {'connected_gene': 'GC04P048658', 'score': 0.22}]
chr4 GH04I048632 48632724 48634531 0.31 [{'connected_gene': 'OCIAD1-AS1', 'score': 10.23}, {'connected_gene': 'OCIAD1', 'score': 7.47}, {'connected_gene': 'SLC10A4', 'score': 6.11}, {'connected_gene': 'GC04P048658', 'score': 0.31}, {'connected_gene': 'RNU5E-3P', 'score': 0.22}, {'connected_gene': 'FRYL', 'score': 0.11}]
chr4 GH04I048316 48316001 48316401 0.99 [{'connected_gene': 'TEC', 'score': 11.21}, {'connected_gene': 'ZAR1', 'score': 10.83}, {'connected_gene': 'TXK', 'score': 10.62}, {'connected_gene': 'SLC10A4', 'score': 4.56}, {'connected_gene': 'GC04M048291', 'score': 0.39}, {'connected_gene': 'SLAIN2', 'score': 0.31}]
chr4 GH04I048329 48329276 48333711 1.03 [{'connected_gene': 'TEC', 'score': 14.57}, {'connected_gene': 'NFXL1', 'score': 11.99}, {'connected_gene': 'TXK', 'score': 10.67}, {'connected_gene': 'RNU6-838P', 'score': 9.83}, {'connected_gene': 'SLC10A4', 'score': 6.04}, {'connected_gene': 'SLAIN2', 'score': 4.78}, {'connected_gene': 'GC04M048291', 'score': 0.31}]