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
ENST00000314787 [[10622472, 10623426], [10677702, 10677779], [10683661, 10683754], [10689174, 10689253], [10690401, 10690494], [10692175, 10692285], [10697247, 10697386]] [[10622910, 10623426], [10677702, 10677779], [10683661, 10683754], [10689174, 10689253], [10690401, 10690494], [10692175, 10692285], [10697247, 10697266]]
ENST00000426190 [[10622474, 10623426], [10683661, 10683754], [10689174, 10689253], [10690401, 10690494], [10692175, 10692285], [10697247, 10697386]] [[10623295, 10623426], [10683661, 10683754], [10689174, 10689253], [10690401, 10690494], [10692175, 10692285], [10697247, 10697260]]
ENST00000519088 [[10622668, 10623426], [10683661, 10683754], [10689174, 10689253], [10690401, 10690494], [10692175, 10692285], [10697247, 10697386]] [[10623295, 10623426], [10683661, 10683754], [10689174, 10689253], [10690401, 10690494], [10692175, 10692285], [10697247, 10697266]]
ENST00000524114 [[10623332, 10623426], [10677702, 10677779], [10683661, 10683754], [10689174, 10689253], [10690401, 10690494], [10692175, 10692285], [10697217, 10697281]] [[10623332, 10623426], [10677702, 10677779], [10683661, 10683754], [10689174, 10689253], [10690401, 10690494], [10692175, 10692285], [10697217, 10697266]]
ENST00000523559 [[10623364, 10623426], [10645133, 10645335], [10683661, 10683754], [10689174, 10689253], [10690401, 10690494], [10692175, 10692285], [10697247, 10697386]] [[10645324, 10645335], [10683661, 10683754], [10689174, 10689253], [10690401, 10690494], [10692175, 10692285], [10697247, 10697266]]
ENST00000524061 [[10645031, 10645335], [10677702, 10677820], [10683661, 10683679]] [[10677779, 10677820], [10683661, 10683679]]
ENST00000517607 [[10679369, 10679634], [10683661, 10683754], [10689174, 10689253], [10690401, 10690494]] None
ENST00000520018 [[10690400, 10690494], [10690997, 10691291], [10692175, 10692285], [10697247, 10697350]] None
ENST00000524026 [[10691861, 10692285], [10697247, 10697394]] None
NM_017884 [[10622470, 10623426], [10677702, 10677779], [10683661, 10683754], [10689174, 10689253], [10690401, 10690494], [10692175, 10692285], [10697247, 10697409]] [[10622910, 10623426], [10677702, 10677779], [10683661, 10683754], [10689174, 10689253], [10690401, 10690494], [10692175, 10692285], [10697247, 10697266]]
NM_001284356 [[10622470, 10623426], [10683661, 10683754], [10689174, 10689253], [10690401, 10690494], [10692175, 10692285], [10697247, 10697409]] [[10623295, 10623426], [10683661, 10683754], [10689174, 10689253], [10690401, 10690494], [10692175, 10692285], [10697247, 10697266]]
Promoter
Chrom Start End Description
chr8 10697329 10697365 CAGE_peak_2_at_PINX1_5end,CAGE_peak_2_at_SOX7_5end
chr8 10697370 10697414 CAGE_peak_1_at_PINX1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I010835 10835320 10835646 0.22 [{'connected_gene': 'RP1L1', 'score': 10.22}, {'connected_gene': 'ENSG00000269918', 'score': 6.61}, {'connected_gene': 'PINX1', 'score': 0.77}, {'connected_gene': 'ENSG00000258724', 'score': 0.77}, {'connected_gene': 'MIR1322', 'score': 0.39}]
chr8 GH08I010798 10798443 10802449 1.59 [{'connected_gene': 'RP1L1', 'score': 17.54}, {'connected_gene': 'C8orf74', 'score': 11.07}, {'connected_gene': 'LOC102723313', 'score': 10.28}, {'connected_gene': 'ENSG00000269918', 'score': 9.01}, {'connected_gene': 'SOX7', 'score': 8.94}, {'connected_gene': 'ENSG00000255310', 'score': 4.59}, {'connected_gene': 'GC08M010803', 'score': 0.77}, {'connected_gene': 'PINX1', 'score': 0.28}, {'connected_gene': 'ENSG00000258724', 'score': 0.28}, {'connected_gene': 'GC08M010757', 'score': 0.28}]
chr8 GH08I010775 10775585 10778900 1.62 [{'connected_gene': 'RP1L1', 'score': 19.97}, {'connected_gene': 'LOC101929290', 'score': 12.79}, {'connected_gene': 'PINX1', 'score': 10.5}, {'connected_gene': 'SOX7', 'score': 9.25}, {'connected_gene': 'ENSG00000255310', 'score': 8.84}, {'connected_gene': 'ENSG00000269918', 'score': 5.62}, {'connected_gene': 'GC08M010757', 'score': 0.37}, {'connected_gene': 'GC08M010803', 'score': 0.31}, {'connected_gene': 'LOC102723313', 'score': 0.25}, {'connected_gene': 'ENSG00000258724', 'score': 0.21}]
chr8 GH08I010652 10651971 10655807 1.65 [{'connected_gene': 'RP1L1', 'score': 561.35}, {'connected_gene': 'LOC101929290', 'score': 24.37}, {'connected_gene': 'PINX1', 'score': 20.97}, {'connected_gene': 'LOC105379241', 'score': 14.91}, {'connected_gene': 'PRSS51', 'score': 4.22}, {'connected_gene': 'MIR4286', 'score': 0.39}, {'connected_gene': 'LOC105379237', 'score': 0.19}]
chr8 GH08I011482 11482572 11484539 1.01 [{'connected_gene': 'FAM167A', 'score': 24.74}, {'connected_gene': 'FAM90A2P', 'score': 14.63}, {'connected_gene': 'LOC105379241', 'score': 14.21}, {'connected_gene': 'PINX1', 'score': 13.36}, {'connected_gene': 'LOC101929290', 'score': 13.07}, {'connected_gene': 'FAM86B1', 'score': 11.89}, {'connected_gene': 'FAM66A', 'score': 11.41}, {'connected_gene': 'MTMR9', 'score': 11.17}, {'connected_gene': 'FAM66D', 'score': 11.16}, {'connected_gene': 'ENPP7P12', 'score': 9.83}, {'connected_gene': 'FAM86B2', 'score': 9.69}, {'connected_gene': 'ENSG00000269918', 'score': 4.83}, {'connected_gene': 'BLK', 'score': 0.39}]
chr8 GH08I011464 11464353 11468260 2.46 [{'connected_gene': 'FAM167A', 'score': 567.44}, {'connected_gene': 'PINX1', 'score': 13.36}, {'connected_gene': 'LOC101929290', 'score': 13.08}, {'connected_gene': 'LOC105379241', 'score': 12.35}, {'connected_gene': 'ENSG00000255310', 'score': 8.15}, {'connected_gene': 'MTMR9', 'score': 1.91}, {'connected_gene': 'NEIL2', 'score': 1.19}, {'connected_gene': 'XKR6', 'score': 1.18}, {'connected_gene': 'PIR35143', 'score': 0.26}]
chr8 GH08I011472 11472877 11477987 1.28 [{'connected_gene': 'FAM167A', 'score': 570.09}, {'connected_gene': 'FAM66A', 'score': 22.73}, {'connected_gene': 'FAM66D', 'score': 21.4}, {'connected_gene': 'LOC105379241', 'score': 15.4}, {'connected_gene': 'LOC101929290', 'score': 14.52}, {'connected_gene': 'FAM90A2P', 'score': 13.94}, {'connected_gene': 'FAM86B1', 'score': 13.88}, {'connected_gene': 'PINX1', 'score': 12.2}, {'connected_gene': 'ALG1L11P', 'score': 11.35}, {'connected_gene': 'MTMR9', 'score': 10.54}, {'connected_gene': 'LOC102723313', 'score': 10.11}, {'connected_gene': 'ENSG00000255310', 'score': 9.6}, {'connected_gene': 'LOC100129129', 'score': 5.1}, {'connected_gene': 'PIR35143', 'score': 0.23}]
chr8 GH08I010812 10812862 10814944 0.84 [{'connected_gene': 'SOX7', 'score': 17.12}, {'connected_gene': 'RP1L1', 'score': 16.17}, {'connected_gene': 'PINX1', 'score': 11.47}, {'connected_gene': 'LOC101929229', 'score': 11.47}, {'connected_gene': 'ENSG00000269918', 'score': 9.61}, {'connected_gene': 'GC08M010803', 'score': 0.44}, {'connected_gene': 'MIR1322', 'score': 0.39}, {'connected_gene': 'ENSG00000258724', 'score': 0.31}]
chr8 GH08I010587 10587431 10587580 0.72 [{'connected_gene': 'SOX7', 'score': 11.67}, {'connected_gene': 'PINX1', 'score': 11.63}, {'connected_gene': 'LOC101929229', 'score': 11.63}, {'connected_gene': 'RP1L1', 'score': 10.29}, {'connected_gene': 'LOC102723313', 'score': 5.64}, {'connected_gene': 'LOC105379237', 'score': 0.44}, {'connected_gene': 'MIR4286', 'score': 0.18}]
chr8 GH08I010584 10584491 10585549 0.38 [{'connected_gene': 'SOX7', 'score': 11.67}, {'connected_gene': 'LOC101929229', 'score': 11.63}, {'connected_gene': 'PINX1', 'score': 11.63}, {'connected_gene': 'RP1L1', 'score': 10.29}, {'connected_gene': 'LOC101929290', 'score': 4.44}, {'connected_gene': 'LOC105379237', 'score': 0.77}, {'connected_gene': 'MIR4286', 'score': 0.18}]
chr8 GH08I011283 11283695 11286001 2.09 [{'connected_gene': 'MTMR9', 'score': 559.97}, {'connected_gene': 'ENSG00000280273', 'score': 550.77}, {'connected_gene': 'PINX1', 'score': 26.51}, {'connected_gene': 'LOC101929290', 'score': 23.41}, {'connected_gene': 'FAM90A2P', 'score': 23.06}, {'connected_gene': 'LOC100129129', 'score': 11.36}, {'connected_gene': 'FAM86B1', 'score': 10.29}, {'connected_gene': 'ENSG00000272505', 'score': 4.36}]
chr8 GH08I011490 11490087 11498709 2.03 [{'connected_gene': 'BLK', 'score': 550.77}, {'connected_gene': 'FAM167A', 'score': 25.21}, {'connected_gene': 'LOC105379241', 'score': 24.76}, {'connected_gene': 'LOC101929290', 'score': 12.27}, {'connected_gene': 'ENSG00000255518', 'score': 11.51}, {'connected_gene': 'ENSG00000255354', 'score': 11.5}, {'connected_gene': 'PINX1', 'score': 11.36}, {'connected_gene': 'ENSG00000269954', 'score': 9.16}, {'connected_gene': 'ENSG00000269918', 'score': 5.95}, {'connected_gene': 'DEFB136', 'score': 4.96}, {'connected_gene': 'ALG1L11P', 'score': 4.85}]
chr8 GH08I011761 11761819 11762943 1.25 [{'connected_gene': 'C8orf49', 'score': 562.57}, {'connected_gene': 'NEIL2', 'score': 14.49}, {'connected_gene': 'LOC101929290', 'score': 12.97}, {'connected_gene': 'PINX1', 'score': 11.72}]
chr8 GH08I010150 10150600 10153747 1.2 [{'connected_gene': 'PINX1', 'score': 11.36}, {'connected_gene': 'MSRA', 'score': 11.29}, {'connected_gene': 'ENSG00000269918', 'score': 9.61}, {'connected_gene': 'GC08M010081', 'score': 0.19}, {'connected_gene': 'LOC100420053', 'score': 0.09}]
chr8 GH08I011506 11506133 11518124 1.63 [{'connected_gene': 'PINX1', 'score': 81.84}, {'connected_gene': 'LOC101929290', 'score': 79.19}, {'connected_gene': 'FAM90A2P', 'score': 34.12}, {'connected_gene': 'MTMR9', 'score': 30.38}, {'connected_gene': 'FAM66A', 'score': 30.21}, {'connected_gene': 'FAM167A', 'score': 24.61}, {'connected_gene': 'LOC105379241', 'score': 22.07}, {'connected_gene': 'FAM66D', 'score': 19.37}, {'connected_gene': 'FAM86B1', 'score': 11.89}, {'connected_gene': 'ENSG00000255518', 'score': 11.09}, {'connected_gene': 'ENSG00000255354', 'score': 11.09}, {'connected_gene': 'ENPP7P6', 'score': 10.34}, {'connected_gene': 'ENPP7P12', 'score': 9.83}, {'connected_gene': 'FAM86B2', 'score': 9.69}, {'connected_gene': 'LOC100129129', 'score': 6.2}, {'connected_gene': 'ENSG00000269954', 'score': 6.05}, {'connected_gene': 'ENSG00000255310', 'score': 5.95}, {'connected_gene': 'ENSG00000269918', 'score': 5.76}, {'connected_gene': 'ENSG00000270154', 'score': 5.14}, {'connected_gene': 'BLK', 'score': 4.13}]
chr8 GH08I011599 11599012 11599241 0.31 [{'connected_gene': 'PINX1', 'score': 13.36}, {'connected_gene': 'LOC101929290', 'score': 13.03}, {'connected_gene': 'ENSG00000255354', 'score': 11.74}, {'connected_gene': 'ENSG00000255518', 'score': 11.72}, {'connected_gene': 'LOC105379241', 'score': 11.72}, {'connected_gene': 'BLK', 'score': 11.6}, {'connected_gene': 'FAM167A', 'score': 10.58}, {'connected_gene': 'NEIL2', 'score': 4.62}, {'connected_gene': 'GC08M011574', 'score': 0.37}, {'connected_gene': 'LINC00208', 'score': 0.34}]
chr8 GH08I010838 10838450 10840724 2.08 [{'connected_gene': 'PINX1', 'score': 561.21}, {'connected_gene': 'ENSG00000258724', 'score': 550.77}, {'connected_gene': 'LOC101929229', 'score': 550.77}, {'connected_gene': 'LOC101929290', 'score': 20.95}, {'connected_gene': 'ENSG00000255310', 'score': 6.9}, {'connected_gene': 'ENSG00000269918', 'score': 6.5}, {'connected_gene': 'MIR1322', 'score': 0.39}]
chr8 GH08I011199 11199067 11202461 1.97 [{'connected_gene': 'XKR6', 'score': 550.77}, {'connected_gene': 'GC08P011201', 'score': 550.77}, {'connected_gene': 'PINX1', 'score': 15.39}, {'connected_gene': 'LOC101929290', 'score': 13.49}, {'connected_gene': 'ENSG00000254936', 'score': 10.52}, {'connected_gene': 'ENSG00000269918', 'score': 6.84}, {'connected_gene': 'GC08M011176', 'score': 0.39}]
chr8 GH08I011799 11799212 11810431 2.3 [{'connected_gene': 'FDFT1', 'score': 571.66}, {'connected_gene': 'PINX1', 'score': 30.87}, {'connected_gene': 'LOC101929290', 'score': 14.46}, {'connected_gene': 'NEIL2', 'score': 13.2}, {'connected_gene': 'CTSB', 'score': 13.05}, {'connected_gene': 'FAM86B2', 'score': 12.55}, {'connected_gene': 'LOC105379241', 'score': 10.63}, {'connected_gene': 'BLK', 'score': 10.62}, {'connected_gene': 'RPS3AP34', 'score': 10.38}, {'connected_gene': 'ENSG00000255122', 'score': 10.14}, {'connected_gene': 'SUB1P1', 'score': 7.54}, {'connected_gene': 'FAM85A', 'score': 4.46}, {'connected_gene': 'LOC105379243', 'score': 0.77}, {'connected_gene': 'PIR48315', 'score': 0.29}]
chr8 GH08I010698 10698171 10699302 0.8 [{'connected_gene': 'LOC101929290', 'score': 12.96}, {'connected_gene': 'C8orf74', 'score': 12.44}, {'connected_gene': 'PINX1', 'score': 11.81}, {'connected_gene': 'ENSG00000269918', 'score': 5.89}, {'connected_gene': 'RP1L1', 'score': 0.39}, {'connected_gene': 'RNA5SP252', 'score': 0.39}]
chr8 GH08I010824 10824429 10824693 0.59 [{'connected_gene': 'MIR1322', 'score': 550.77}, {'connected_gene': 'RP1L1', 'score': 14.32}, {'connected_gene': 'GC08M010803', 'score': 0.37}, {'connected_gene': 'PINX1', 'score': 0.37}, {'connected_gene': 'ENSG00000258724', 'score': 0.37}]
chr8 GH08I010825 10825411 10825600 0.6 [{'connected_gene': 'MIR1322', 'score': 550.77}, {'connected_gene': 'PINX1', 'score': 0.39}, {'connected_gene': 'ENSG00000258724', 'score': 0.39}]
chr8 GH08I011679 11679069 11681991 1.02 [{'connected_gene': 'RPS3AP34', 'score': 22.39}, {'connected_gene': 'PINX1', 'score': 15.37}, {'connected_gene': 'LOC101929290', 'score': 13.42}, {'connected_gene': 'LOC105379241', 'score': 8.68}, {'connected_gene': 'ENSG00000269918', 'score': 7.4}, {'connected_gene': 'FDFT1', 'score': 6.66}, {'connected_gene': 'LOC100129129', 'score': 5.49}, {'connected_gene': 'GATA4', 'score': 4.36}, {'connected_gene': 'LOC101929490', 'score': 0.77}, {'connected_gene': 'C8orf49', 'score': 0.18}]
chr8 GH08I010804 10804851 10807000 0.63 [{'connected_gene': 'GC08M010803', 'score': 550.77}, {'connected_gene': 'RP1L1', 'score': 17.26}, {'connected_gene': 'SOX7', 'score': 9.33}, {'connected_gene': 'ENSG00000269918', 'score': 9.02}, {'connected_gene': 'MIR1322', 'score': 0.37}, {'connected_gene': 'PINX1', 'score': 0.29}, {'connected_gene': 'ENSG00000258724', 'score': 0.29}]
chr8 GH08I010818 10818713 10819242 1.04 [{'connected_gene': 'ENSG00000269954', 'score': 10.15}, {'connected_gene': 'RP1L1', 'score': 9.89}, {'connected_gene': 'SOX7', 'score': 7.2}, {'connected_gene': 'ENSG00000269918', 'score': 5.79}, {'connected_gene': 'MIR1322', 'score': 0.44}, {'connected_gene': 'GC08M010803', 'score': 0.39}, {'connected_gene': 'PINX1', 'score': 0.34}, {'connected_gene': 'ENSG00000258724', 'score': 0.34}]
chr8 GH08I010783 10783314 10785030 0.82 [{'connected_gene': 'ENSG00000269918', 'score': 8.74}, {'connected_gene': 'SOX7', 'score': 7.63}, {'connected_gene': 'RP1L1', 'score': 6.63}, {'connected_gene': 'GC08M010803', 'score': 0.34}, {'connected_gene': 'GC08M010757', 'score': 0.34}, {'connected_gene': 'PINX1', 'score': 0.22}, {'connected_gene': 'ENSG00000258724', 'score': 0.22}]
chr8 GH08I010787 10787529 10790613 1.12 [{'connected_gene': 'ENSG00000255310', 'score': 10.14}, {'connected_gene': 'SOX7', 'score': 8.73}, {'connected_gene': 'RP1L1', 'score': 6.3}, {'connected_gene': 'ENSG00000269918', 'score': 5.43}, {'connected_gene': 'GC08M010803', 'score': 0.37}, {'connected_gene': 'GC08M010757', 'score': 0.31}, {'connected_gene': 'PINX1', 'score': 0.23}, {'connected_gene': 'ENSG00000258724', 'score': 0.23}]
chr8 GH08I010424 10424920 10427826 1.09 [{'connected_gene': 'GC08M010423', 'score': 550.77}, {'connected_gene': 'ENSG00000269918', 'score': 11.62}, {'connected_gene': 'ENSG00000255310', 'score': 7.51}, {'connected_gene': 'PINX1', 'score': 6.01}, {'connected_gene': 'ENSG00000272505', 'score': 4.98}, {'connected_gene': 'PIR43128', 'score': 0.26}, {'connected_gene': 'MSRA', 'score': 0.05}]
chr8 GH08I010793 10793791 10793900 0.6 [{'connected_gene': 'GC08M010803', 'score': 0.39}, {'connected_gene': 'GC08M010757', 'score': 0.29}, {'connected_gene': 'PINX1', 'score': 0.25}, {'connected_gene': 'ENSG00000258724', 'score': 0.25}]

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