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
ENST00000231368 [[96271167, 96271878], [96314841, 96315682], [96320783, 96320922], [96322242, 96322374], [96328718, 96328839], [96329520, 96329675], [96332093, 96332207], [96333717, 96333849], [96339118, 96339250], [96341776, 96341937], [96342130, 96342219], [96349351, 96349535], [96350642, 96350799], [96358003, 96358188], [96360224, 96360386], [96362320, 96362461], [96363436, 96363518], [96364105, 96373219]] [[96271859, 96271878], [96314841, 96315682], [96320783, 96320922], [96322242, 96322374], [96328718, 96328839], [96329520, 96329675], [96332093, 96332207], [96333717, 96333849], [96339118, 96339250], [96341776, 96341937], [96342130, 96342219], [96349351, 96349535], [96350642, 96350799], [96358003, 96358188], [96360224, 96360386], [96362320, 96362461], [96363436, 96363518], [96364105, 96364237]]
ENST00000395770 [[96294154, 96294480], [96314841, 96315682], [96320783, 96320922], [96322242, 96322374], [96328718, 96328839], [96329520, 96329675], [96332093, 96332207], [96333717, 96333849], [96339118, 96339250], [96341776, 96341937], [96342130, 96342219], [96349351, 96349535], [96350642, 96350799], [96358003, 96358188], [96360224, 96360386], [96362320, 96362461], [96363436, 96363518], [96364105, 96364740]] [[96314864, 96315682], [96320783, 96320922], [96322242, 96322374], [96328718, 96328839], [96329520, 96329675], [96332093, 96332207], [96333717, 96333849], [96339118, 96339250], [96341776, 96341937], [96342130, 96342219], [96349351, 96349535], [96350642, 96350799], [96358003, 96358188], [96360224, 96360386], [96362320, 96362461], [96363436, 96363518], [96364105, 96364237]]
ENST00000473914 [[96332081, 96332207], [96333717, 96333849], [96339118, 96339250], [96341776, 96342086]] None
ENST00000395784 [[96271097, 96271399], [96271697, 96273470]] None
ENST00000474122 [[96331716, 96332207], [96333717, 96333788]] None
NM_005575 [[96271345, 96271878], [96314841, 96315682], [96320783, 96320922], [96322242, 96322374], [96328718, 96328839], [96329520, 96329675], [96332093, 96332207], [96333717, 96333849], [96339118, 96339250], [96341776, 96341937], [96342130, 96342219], [96349351, 96349535], [96350642, 96350799], [96358003, 96358188], [96360224, 96360386], [96362320, 96362461], [96363436, 96363518], [96364105, 96365115]] [[96271859, 96271878], [96314841, 96315682], [96320783, 96320922], [96322242, 96322374], [96328718, 96328839], [96329520, 96329675], [96332093, 96332207], [96333717, 96333849], [96339118, 96339250], [96341776, 96341937], [96342130, 96342219], [96349351, 96349535], [96350642, 96350799], [96358003, 96358188], [96360224, 96360386], [96362320, 96362461], [96363436, 96363518], [96364105, 96364237]]
NM_175920 [[96294155, 96294480], [96314841, 96315682], [96320783, 96320922], [96322242, 96322374], [96328718, 96328839], [96329520, 96329675], [96332093, 96332207], [96333717, 96333849], [96339118, 96339250], [96341776, 96341937], [96342130, 96342219], [96349351, 96349535], [96350642, 96350799], [96358003, 96358188], [96360224, 96360386], [96362320, 96362461], [96363436, 96363518], [96364105, 96365115]] [[96314864, 96315682], [96320783, 96320922], [96322242, 96322374], [96328718, 96328839], [96329520, 96329675], [96332093, 96332207], [96333717, 96333849], [96339118, 96339250], [96341776, 96341937], [96342130, 96342219], [96349351, 96349535], [96350642, 96350799], [96358003, 96358188], [96360224, 96360386], [96362320, 96362461], [96363436, 96363518], [96364105, 96364237]]
Promoter
Chrom Start End Description
chr5 96270617 96270650 CAGE_peak_6_at_LNPEP_5end
chr5 96270957 96270996 CAGE_peak_3_at_LNPEP_5end
chr5 96271009 96271023 CAGE_peak_7_at_LNPEP_5end
chr5 96271051 96271131 CAGE_peak_2_at_LNPEP_5end
chr5 96271141 96271152 CAGE_peak_17_at_LNPEP_5end
chr5 96271668 96271681 CAGE_peak_5_at_LNPEP_5end
chr5 96271758 96271765 CAGE_peak_4_at_LNPEP_5end
chr5 96271775 96271832 CAGE_peak_1_at_LNPEP_5end
chr5 96293965 96293986 CAGE_peak_10_at_LNPEP_5end
chr5 96294118 96294125 CAGE_peak_21_at_LNPEP_5end
chr5 96294131 96294142 CAGE_peak_15_at_LNPEP_5end
chr5 96294145 96294180 CAGE_peak_8_at_LNPEP_5end
chr5 96294360 96294372 CAGE_peak_9_at_LNPEP_5end
chr5 96314954 96314995 CAGE_peak_11_at_LNPEP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I097019 97019520 97020646 0.31 [{'connected_gene': 'ERAP2', 'score': 83.38}, {'connected_gene': 'SETP22', 'score': 0.28}, {'connected_gene': 'GC05P096972', 'score': 0.25}, {'connected_gene': 'LNPEP', 'score': 0.18}]
chr5 GH05I096875 96875318 96878199 2.1 [{'connected_gene': 'ERAP2', 'score': 594.99}, {'connected_gene': 'ERAP1', 'score': 20.17}, {'connected_gene': 'ENSG00000248734', 'score': 15.41}, {'connected_gene': 'LNPEP', 'score': 12.02}, {'connected_gene': 'ENSG00000247121', 'score': 12.02}, {'connected_gene': 'RPS20P16', 'score': 12.0}, {'connected_gene': 'LIX1', 'score': 9.88}, {'connected_gene': 'ENSG00000272109', 'score': 6.47}]
chr5 GH05I096879 96879510 96882621 1.49 [{'connected_gene': 'ERAP2', 'score': 67.93}, {'connected_gene': 'ERAP1', 'score': 30.35}, {'connected_gene': 'ENSG00000248734', 'score': 13.95}, {'connected_gene': 'LIX1', 'score': 9.88}, {'connected_gene': 'RIOK2', 'score': 9.71}, {'connected_gene': 'CAST', 'score': 2.74}, {'connected_gene': 'ENSG00000247121', 'score': 0.23}, {'connected_gene': 'LNPEP', 'score': 0.23}]
chr5 GH05I096907 96907854 96910786 0.43 [{'connected_gene': 'ERAP2', 'score': 92.56}, {'connected_gene': 'ERAP1', 'score': 10.66}, {'connected_gene': 'LIX1', 'score': 10.49}, {'connected_gene': 'ENSG00000248734', 'score': 10.47}, {'connected_gene': 'LNPEP', 'score': 0.31}, {'connected_gene': 'ENSG00000247121', 'score': 0.31}]
chr5 GH05I096967 96967345 96969599 1.13 [{'connected_gene': 'ERAP2', 'score': 62.41}, {'connected_gene': 'ERAP1', 'score': 10.46}, {'connected_gene': 'LIX1', 'score': 10.41}, {'connected_gene': 'ENSG00000248734', 'score': 10.04}, {'connected_gene': 'GC05P096972', 'score': 0.77}, {'connected_gene': 'GC05M096963', 'score': 0.44}, {'connected_gene': 'ENSG00000200884', 'score': 0.44}, {'connected_gene': 'LNPEP', 'score': 0.29}]
chr5 GH05I096930 96930880 96931137 0.74 [{'connected_gene': 'ERAP2', 'score': 16.86}, {'connected_gene': 'LNPEP', 'score': 0.77}, {'connected_gene': 'ENSG00000247121', 'score': 0.77}, {'connected_gene': 'ERAP1', 'score': 0.77}]
chr5 GH05I096932 96930697 96930846 0.79 [{'connected_gene': 'ERAP2', 'score': 10.53}, {'connected_gene': 'LNPEP', 'score': 0.77}, {'connected_gene': 'ENSG00000247121', 'score': 0.44}, {'connected_gene': 'ERAP1', 'score': 0.44}]
chr5 GH05I096884 96884622 96886904 1.23 [{'connected_gene': 'ERAP2', 'score': 80.73}, {'connected_gene': 'LNPEP', 'score': 17.51}, {'connected_gene': 'ENSG00000247121', 'score': 11.98}, {'connected_gene': 'RPS20P16', 'score': 11.97}, {'connected_gene': 'ERAP1', 'score': 11.93}, {'connected_gene': 'ENSG00000248734', 'score': 10.15}, {'connected_gene': 'LIX1', 'score': 9.62}]
chr5 GH05I096903 96903175 96905249 0.54 [{'connected_gene': 'ERAP2', 'score': 102.66}, {'connected_gene': 'LNPEP', 'score': 12.14}, {'connected_gene': 'ENSG00000247121', 'score': 12.14}, {'connected_gene': 'RPS20P16', 'score': 12.12}, {'connected_gene': 'ERAP1', 'score': 11.01}, {'connected_gene': 'LIX1', 'score': 10.48}, {'connected_gene': 'ENSG00000248734', 'score': 10.48}]
chr5 GH05I096893 96893704 96894221 0.66 [{'connected_gene': 'ERAP2', 'score': 74.62}, {'connected_gene': 'LNPEP', 'score': 11.33}, {'connected_gene': 'ENSG00000247121', 'score': 11.33}, {'connected_gene': 'RPS20P16', 'score': 11.31}, {'connected_gene': 'ERAP1', 'score': 11.22}, {'connected_gene': 'LIX1', 'score': 10.12}]
chr5 GH05I096912 96912196 96914977 0.46 [{'connected_gene': 'ERAP2', 'score': 91.66}, {'connected_gene': 'LNPEP', 'score': 11.96}, {'connected_gene': 'ENSG00000247121', 'score': 11.96}, {'connected_gene': 'RPS20P16', 'score': 11.94}, {'connected_gene': 'ERAP1', 'score': 10.82}, {'connected_gene': 'ENSG00000248734', 'score': 9.92}]
chr5 GH05I096894 96894625 96897560 1.14 [{'connected_gene': 'ERAP2', 'score': 103.33}, {'connected_gene': 'LNPEP', 'score': 12.46}, {'connected_gene': 'ENSG00000247121', 'score': 12.46}, {'connected_gene': 'RPS20P16', 'score': 12.43}, {'connected_gene': 'ERAP1', 'score': 11.58}, {'connected_gene': 'ENSG00000248734', 'score': 9.45}]
chr5 GH05I096898 96898457 96900737 0.2 [{'connected_gene': 'ERAP2', 'score': 102.78}, {'connected_gene': 'LNPEP', 'score': 12.46}, {'connected_gene': 'ENSG00000247121', 'score': 12.46}, {'connected_gene': 'RPS20P16', 'score': 12.44}, {'connected_gene': 'ERAP1', 'score': 11.23}, {'connected_gene': 'ENSG00000248734', 'score': 10.01}]
chr5 GH05I096888 96888092 96889845 0.38 [{'connected_gene': 'ERAP2', 'score': 83.08}, {'connected_gene': 'LNPEP', 'score': 17.5}, {'connected_gene': 'ENSG00000247121', 'score': 12.0}, {'connected_gene': 'RPS20P16', 'score': 11.98}, {'connected_gene': 'LIX1', 'score': 9.81}, {'connected_gene': 'ERAP1', 'score': 0.25}]
chr5 GH05I096895 96893437 96893586 0.72 [{'connected_gene': 'ERAP2', 'score': 76.62}, {'connected_gene': 'LNPEP', 'score': 11.33}, {'connected_gene': 'ENSG00000247121', 'score': 11.33}, {'connected_gene': 'RPS20P16', 'score': 11.31}, {'connected_gene': 'LIX1', 'score': 9.81}, {'connected_gene': 'ERAP1', 'score': 0.26}]
chr5 GH05I097008 97008946 97010193 1.09 [{'connected_gene': 'ERAP2', 'score': 81.74}, {'connected_gene': 'ENSG00000247121', 'score': 11.96}, {'connected_gene': 'LIX1', 'score': 10.41}, {'connected_gene': 'GC05P096972', 'score': 0.28}, {'connected_gene': 'SETP22', 'score': 0.25}, {'connected_gene': 'LNPEP', 'score': 0.19}]
chr5 GH05I096981 96981579 96982783 0.31 [{'connected_gene': 'ERAP2', 'score': 102.8}, {'connected_gene': 'LIX1', 'score': 10.72}, {'connected_gene': 'ERAP1', 'score': 9.83}, {'connected_gene': 'ENSG00000248734', 'score': 9.67}, {'connected_gene': 'GC05P096972', 'score': 0.44}, {'connected_gene': 'LNPEP', 'score': 0.25}, {'connected_gene': 'SETP22', 'score': 0.18}]
chr5 GH05I096919 96919852 96925137 1.2 [{'connected_gene': 'ERAP2', 'score': 97.31}, {'connected_gene': 'LIX1', 'score': 9.95}, {'connected_gene': 'ERAP1', 'score': 5.36}, {'connected_gene': 'LNPEP', 'score': 5.0}, {'connected_gene': 'ENSG00000247121', 'score': 0.39}]
chr5 GH05I096993 96993307 96994962 0.31 [{'connected_gene': 'ERAP2', 'score': 72.51}, {'connected_gene': 'RPS20P16', 'score': 12.24}, {'connected_gene': 'LNPEP', 'score': 12.23}, {'connected_gene': 'ENSG00000247121', 'score': 12.23}, {'connected_gene': 'LIX1', 'score': 11.33}, {'connected_gene': 'GC05P096972', 'score': 0.34}, {'connected_gene': 'SETP22', 'score': 0.21}]
chr5 GH05I097003 97003318 97006885 0.2 [{'connected_gene': 'ERAP2', 'score': 82.91}, {'connected_gene': 'RPS20P16', 'score': 11.97}, {'connected_gene': 'LNPEP', 'score': 11.97}, {'connected_gene': 'ENSG00000247121', 'score': 11.97}, {'connected_gene': 'LIX1', 'score': 11.16}, {'connected_gene': 'ERAP1', 'score': 5.73}, {'connected_gene': 'GC05P096972', 'score': 0.29}, {'connected_gene': 'SETP22', 'score': 0.23}]
chr5 GH05I096952 96952282 96953296 0.71 [{'connected_gene': 'ERAP2', 'score': 102.84}, {'connected_gene': 'ENSG00000200884', 'score': 0.44}, {'connected_gene': 'GC05M096963', 'score': 0.44}, {'connected_gene': 'RPS20P16', 'score': 0.39}, {'connected_gene': 'LNPEP', 'score': 0.37}]
chr5 GH05I096815 96815626 96818415 1.34 [{'connected_gene': 'ERAP1', 'score': 45.64}, {'connected_gene': 'ENSG00000248734', 'score': 22.59}, {'connected_gene': 'ERAP2', 'score': 12.3}, {'connected_gene': 'LNPEP', 'score': 2.23}, {'connected_gene': 'LOC105379092', 'score': 0.44}, {'connected_gene': 'ENSG00000247121', 'score': 0.13}]
chr5 GH05I096713 96713430 96720227 1.69 [{'connected_gene': 'ERAP1', 'score': 20.19}, {'connected_gene': 'CAST', 'score': 9.28}, {'connected_gene': 'ENSG00000248734', 'score': 8.31}, {'connected_gene': 'LNPEP', 'score': 4.24}, {'connected_gene': 'ENSG00000249180', 'score': 0.31}]
chr5 GH05I096805 96805418 96809428 2.56 [{'connected_gene': 'ERAP1', 'score': 600.73}, {'connected_gene': 'LOC105379092', 'score': 550.77}, {'connected_gene': 'RIOK2', 'score': 25.86}, {'connected_gene': 'ERAP2', 'score': 16.03}, {'connected_gene': 'ENSG00000248734', 'score': 15.82}, {'connected_gene': 'CAST', 'score': 2.44}, {'connected_gene': 'LNPEP', 'score': 1.35}, {'connected_gene': 'ENSG00000272109', 'score': 0.77}]
chr5 GH05I096956 96956401 96959729 1.62 [{'connected_gene': 'LNPEP', 'score': 563.09}, {'connected_gene': 'ERAP2', 'score': 102.84}, {'connected_gene': 'ENSG00000247121', 'score': 13.09}, {'connected_gene': 'LIX1', 'score': 10.13}, {'connected_gene': 'ENSG00000200884', 'score': 0.77}, {'connected_gene': 'GC05M096963', 'score': 0.77}, {'connected_gene': 'RPS20P16', 'score': 0.37}]
chr5 GH05I096588 96588453 96597757 0.6 [{'connected_gene': 'LNPEP', 'score': 15.0}, {'connected_gene': 'RIOK2', 'score': 14.81}, {'connected_gene': 'LIX1-AS1', 'score': 4.48}, {'connected_gene': 'CAST', 'score': 0.2}, {'connected_gene': 'ENSG00000249180', 'score': 0.11}, {'connected_gene': 'LOC101929710', 'score': 0.03}]
chr5 GH05I096931 96931318 96937916 2.54 [{'connected_gene': 'LNPEP', 'score': 573.19}, {'connected_gene': 'ERAP1', 'score': 568.96}, {'connected_gene': 'ENSG00000247121', 'score': 550.77}, {'connected_gene': 'LOC101929747', 'score': 550.77}, {'connected_gene': 'ERAP2', 'score': 121.59}, {'connected_gene': 'RIOK2', 'score': 36.75}, {'connected_gene': 'ENSG00000248734', 'score': 14.2}]
chr5 GH05I096601 96601730 96602584 0.82 [{'connected_gene': 'LNPEP', 'score': 4.75}, {'connected_gene': 'CAST', 'score': 0.18}, {'connected_gene': 'ENSG00000249180', 'score': 0.11}, {'connected_gene': 'LOC101929710', 'score': 0.03}]
chr5 GH05I096868 96868998 96869167 0.99 [{'connected_gene': 'LNPEP', 'score': 11.59}, {'connected_gene': 'ENSG00000247121', 'score': 11.59}, {'connected_gene': 'RPS20P16', 'score': 11.57}, {'connected_gene': 'LIX1', 'score': 10.91}, {'connected_gene': 'ERAP2', 'score': 0.44}, {'connected_gene': 'LOC105379092', 'score': 0.21}, {'connected_gene': 'ERAP1', 'score': 0.2}]
chr5 GH05I096699 96699213 96710808 2.49 [{'connected_gene': 'CAST', 'score': 568.45}, {'connected_gene': 'RIOK2', 'score': 36.1}, {'connected_gene': 'ERAP1', 'score': 24.62}, {'connected_gene': 'ENSG00000248734', 'score': 19.56}, {'connected_gene': 'LNPEP', 'score': 11.92}, {'connected_gene': 'ENSG00000249180', 'score': 11.56}, {'connected_gene': 'LOC101929710', 'score': 9.75}]
chr5 GH05I096536 96536508 96539456 1.39 [{'connected_gene': 'LOC101929710', 'score': 10.88}, {'connected_gene': 'PCSK1', 'score': 10.79}, {'connected_gene': 'CAST', 'score': 2.07}, {'connected_gene': 'LNPEP', 'score': 1.6}, {'connected_gene': 'ENSG00000249180', 'score': 0.08}]
chr5 GH05I096613 96613657 96615628 1.17 [{'connected_gene': 'LOC101929710', 'score': 10.65}, {'connected_gene': 'LNPEP', 'score': 4.76}, {'connected_gene': 'CAST', 'score': 0.17}, {'connected_gene': 'ENSG00000249180', 'score': 0.13}]
chr5 GH05I096939 96939744 96940970 0.2 [{'connected_gene': 'RPS20P16', 'score': 550.77}, {'connected_gene': 'ERAP2', 'score': 102.87}, {'connected_gene': 'LNPEP', 'score': 0.77}, {'connected_gene': 'LOC101929747', 'score': 0.77}]
chr5 GH05I096941 96941476 96942498 0.31 [{'connected_gene': 'RPS20P16', 'score': 550.77}, {'connected_gene': 'ERAP2', 'score': 111.49}, {'connected_gene': 'LNPEP', 'score': 0.44}, {'connected_gene': 'LOC101929747', 'score': 0.44}]
chr5 GH05I096942 96942969 96944894 0.49 [{'connected_gene': 'RPS20P16', 'score': 550.77}, {'connected_gene': 'ERAP2', 'score': 112.97}, {'connected_gene': 'LNPEP', 'score': 0.44}, {'connected_gene': 'ENSG00000200884', 'score': 0.37}, {'connected_gene': 'GC05M096963', 'score': 0.37}]
chr5 GH05I096960 96960300 96964068 1.31 [{'connected_gene': 'ENSG00000200884', 'score': 550.77}, {'connected_gene': 'GC05M096963', 'score': 550.77}, {'connected_gene': 'ERAP2', 'score': 103.21}, {'connected_gene': 'LNPEP', 'score': 13.06}, {'connected_gene': 'ENSG00000247121', 'score': 13.06}, {'connected_gene': 'ERAP1', 'score': 10.09}, {'connected_gene': 'CAST', 'score': 8.97}, {'connected_gene': 'RPS20P16', 'score': 0.37}]
chr5 GH05I096973 96973601 96973800 0.4 [{'connected_gene': 'GC05P096972', 'score': 550.77}, {'connected_gene': 'RPS20P16', 'score': 12.11}, {'connected_gene': 'LNPEP', 'score': 12.09}, {'connected_gene': 'ENSG00000247121', 'score': 12.09}, {'connected_gene': 'SETP22', 'score': 0.18}]

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