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
ENST00000560827 [[56536206, 56536476], [56665638, 56665702], [56676149, 56676229], [56680669, 56680718], [56681515, 56681598], [56683440, 56683583]] [[56676191, 56676229], [56680669, 56680718], [56681515, 56681598], [56683440, 56683583]]
ENST00000352903 [[56657624, 56657675], [56657776, 56657868], [56665638, 56665702], [56676149, 56676229], [56680669, 56680718], [56681515, 56681598], [56683440, 56683616], [56686362, 56686445], [56686858, 56687032], [56704499, 56704634], [56719802, 56719937], [56720564, 56720671], [56737868, 56738072]] [[56657648, 56657675], [56657776, 56657868], [56665638, 56665702], [56676149, 56676229], [56680669, 56680718], [56681515, 56681598], [56683440, 56683616], [56686362, 56686445], [56686858, 56687032], [56704499, 56704634], [56719802, 56719937], [56720564, 56720642]]
ENST00000537232 [[56657635, 56657675], [56657776, 56658091], [56665638, 56665702], [56676149, 56676229], [56680669, 56680718], [56681515, 56681598], [56683440, 56683616], [56686362, 56686445], [56686858, 56687032], [56704499, 56704634], [56719802, 56719937], [56720564, 56720671], [56737868, 56738195]] [[56676191, 56676229], [56680669, 56680718], [56681515, 56681598], [56683440, 56683616], [56686362, 56686445], [56686858, 56687032], [56704499, 56704634], [56719802, 56719937], [56720564, 56720642]]
ENST00000561221 [[56657643, 56657675], [56657776, 56657868], [56665638, 56665702], [56676149, 56676229], [56680669, 56680718], [56681515, 56681598], [56683440, 56683616], [56686362, 56686445], [56686858, 56688496]] [[56657648, 56657675], [56657776, 56657868], [56665638, 56665702], [56676149, 56676229], [56680669, 56680718], [56681515, 56681598], [56683440, 56683616], [56686362, 56686445], [56686858, 56687056]]
ENST00000558127 [[56657644, 56658091], [56665638, 56665702], [56683440, 56683616]] [[56657648, 56657888]]
ENST00000558083 [[56657644, 56657868], [56665638, 56665702], [56676149, 56676229], [56680669, 56680718], [56681515, 56681598], [56683440, 56683616], [56686362, 56686445], [56686858, 56690539]] [[56676191, 56676229], [56680669, 56680718], [56681515, 56681598], [56683440, 56683616], [56686362, 56686445], [56686858, 56687056]]
ENST00000559142 [[56665635, 56665702], [56666351, 56666821]] None
ENST00000559546 [[56685851, 56686445], [56686858, 56686896]] None
ENST00000560582 [[56686918, 56687032], [56704499, 56704634], [56720564, 56720910]] [[56686936, 56687032], [56704499, 56704634], [56720564, 56720642]]
NM_198524 [[56657621, 56657675], [56657776, 56657868], [56665638, 56665702], [56676149, 56676229], [56680669, 56680718], [56681515, 56681598], [56683440, 56683616], [56686362, 56686445], [56686858, 56687032], [56704499, 56704634], [56719802, 56719937], [56720564, 56720671], [56737868, 56738195]] [[56657648, 56657675], [56657776, 56657868], [56665638, 56665702], [56676149, 56676229], [56680669, 56680718], [56681515, 56681598], [56683440, 56683616], [56686362, 56686445], [56686858, 56687032], [56704499, 56704634], [56719802, 56719937], [56720564, 56720642]]
NM_001286449 [[56657621, 56657675], [56657776, 56658091], [56665638, 56665702], [56676149, 56676229], [56680669, 56680718], [56681515, 56681598], [56683440, 56683616], [56686362, 56686445], [56686858, 56687032], [56704499, 56704634], [56719802, 56719937], [56720564, 56720671], [56737868, 56738195]] [[56676191, 56676229], [56680669, 56680718], [56681515, 56681598], [56683440, 56683616], [56686362, 56686445], [56686858, 56687032], [56704499, 56704634], [56719802, 56719937], [56720564, 56720642]]
Promoter
Chrom Start End Description
chr15 56657613 56657651 CAGE_peak_1_at_TEX9_5end
chr15 56657670 56657684 CAGE_peak_2_at_TEX9_5end
chr15 56657732 56657743 CAGE_peak_4_at_TEX9_5end
chr15 56657750 56657757 CAGE_peak_6_at_TEX9_5end
chr15 56657762 56657777 CAGE_peak_3_at_TEX9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I056425 56425741 56425924 0.22 [{'connected_gene': 'RFX7', 'score': 2.22}, {'connected_gene': 'MNS1', 'score': 1.9}, {'connected_gene': 'ZNF280D', 'score': 1.4}, {'connected_gene': 'TEX9', 'score': 1.24}, {'connected_gene': 'ENSG00000261823', 'score': 0.37}, {'connected_gene': 'ENSG00000277245', 'score': 0.34}]
chr15 GH15I056127 56127477 56127845 0.22 [{'connected_gene': 'RFX7', 'score': 7.93}, {'connected_gene': 'TEX9', 'score': 6.39}, {'connected_gene': 'GC15P056091', 'score': 0.28}, {'connected_gene': 'LOC390586', 'score': 0.2}]
chr15 GH15I056240 56240401 56246732 2.5 [{'connected_gene': 'RFX7', 'score': 581.93}, {'connected_gene': 'TEX9', 'score': 560.13}]
chr15 GH15I056207 56207135 56209479 0.79 [{'connected_gene': 'RFX7', 'score': 22.52}, {'connected_gene': 'TEX9', 'score': 9.24}, {'connected_gene': 'GC15M057437', 'score': 0.44}]
chr15 GH15I056215 56215363 56216211 0.64 [{'connected_gene': 'RFX7', 'score': 21.17}, {'connected_gene': 'TEX9', 'score': 9.29}, {'connected_gene': 'GC15M057437', 'score': 0.39}]
chr15 GH15I056464 56464400 56465712 1.95 [{'connected_gene': 'MNS1', 'score': 550.77}, {'connected_gene': 'TEX9', 'score': 5.83}, {'connected_gene': 'PIR31560', 'score': 0.44}, {'connected_gene': 'GC15M057417', 'score': 0.44}]
chr15 GH15I056731 56731408 56734492 2.2 [{'connected_gene': 'ZNF280D', 'score': 559.81}, {'connected_gene': 'RFX7', 'score': 12.4}, {'connected_gene': 'TEX9', 'score': 9.81}, {'connected_gene': 'LINC00926', 'score': 9.28}, {'connected_gene': 'ENSG00000274667', 'score': 0.77}, {'connected_gene': 'GC15M057422', 'score': 0.39}]
chr15 GH15I056037 56037742 56044220 1.53 [{'connected_gene': 'ZNF280D', 'score': 48.6}, {'connected_gene': 'RSL24D1', 'score': 23.8}, {'connected_gene': 'TEX9', 'score': 21.36}, {'connected_gene': 'PYGO1', 'score': 21.28}, {'connected_gene': 'PRTG', 'score': 21.17}, {'connected_gene': 'RFX7', 'score': 20.34}, {'connected_gene': 'MNS1', 'score': 19.09}, {'connected_gene': 'TCF12', 'score': 12.6}, {'connected_gene': 'PIGBOS1', 'score': 11.12}, {'connected_gene': 'RN7SL568P', 'score': 0.39}, {'connected_gene': 'CD24P2', 'score': 0.29}]
chr15 GH15I056320 56320523 56320672 0.8 [{'connected_gene': 'TEX9', 'score': 15.52}, {'connected_gene': 'RFX7', 'score': 8.88}, {'connected_gene': 'HMGB1P33', 'score': 0.77}, {'connected_gene': 'RNU6-1287P', 'score': 0.25}, {'connected_gene': 'GC15M056738', 'score': 0.25}]
chr15 GH15I056364 56364747 56366542 2.15 [{'connected_gene': 'TEX9', 'score': 555.19}, {'connected_gene': 'RFX7', 'score': 10.87}, {'connected_gene': 'ENSG00000259941', 'score': 0.29}, {'connected_gene': 'HMGB1P33', 'score': 0.26}]
chr15 GH15I056261 56261963 56262112 0.31 [{'connected_gene': 'TEX9', 'score': 5.43}, {'connected_gene': 'RNU6-1287P', 'score': 0.39}, {'connected_gene': 'ENSG00000275417', 'score': 0.39}, {'connected_gene': 'GC15M056738', 'score': 0.39}]
chr15 GH15I056491 56491223 56491412 0.57 [{'connected_gene': 'TEX9', 'score': 8.94}, {'connected_gene': 'LOC105370831', 'score': 0.44}, {'connected_gene': 'LOC105370832', 'score': 0.12}]
chr15 GH15I056327 56327823 56327992 0.43 [{'connected_gene': 'TEX9', 'score': 16.33}, {'connected_gene': 'HMGB1P33', 'score': 0.77}, {'connected_gene': 'ENSG00000259941', 'score': 0.2}]
chr15 GH15I056342 56342503 56342652 0.31 [{'connected_gene': 'TEX9', 'score': 5.2}, {'connected_gene': 'HMGB1P33', 'score': 0.37}, {'connected_gene': 'ENSG00000259941', 'score': 0.23}]
chr15 GH15I055740 55740400 55744271 1.97 [{'connected_gene': 'PRTG', 'score': 564.01}, {'connected_gene': 'TEX9', 'score': 9.8}, {'connected_gene': 'GC15M057408', 'score': 0.77}]
chr15 GH15I055823 55823303 55823532 0.93 [{'connected_gene': 'PYGO1', 'score': 14.36}, {'connected_gene': 'TEX9', 'score': 13.21}, {'connected_gene': 'PRTG', 'score': 12.04}, {'connected_gene': 'PIGBOS1', 'score': 11.13}, {'connected_gene': 'MNS1', 'score': 10.69}, {'connected_gene': 'GC15P055749', 'score': 0.19}, {'connected_gene': 'NEDD4', 'score': 0.09}]
chr15 GH15I056323 56323150 56323409 0.48 [{'connected_gene': 'HMGB1P33', 'score': 550.77}, {'connected_gene': 'RFX7', 'score': 8.59}, {'connected_gene': 'ENSG00000259941', 'score': 0.19}, {'connected_gene': 'TEX9', 'score': 0.18}]
chr15 GH15I056248 56248236 56249352 0.59 [{'connected_gene': 'ENSG00000275417', 'score': 550.77}, {'connected_gene': 'RFX7', 'score': 24.66}, {'connected_gene': 'TEX9', 'score': 0.77}, {'connected_gene': 'RNU6-1287P', 'score': 0.31}, {'connected_gene': 'GC15M056738', 'score': 0.31}]
chr15 GH15I056251 56251523 56251672 0.89 [{'connected_gene': 'ENSG00000275417', 'score': 0.77}, {'connected_gene': 'TEX9', 'score': 0.44}, {'connected_gene': 'RNU6-1287P', 'score': 0.34}, {'connected_gene': 'GC15M056738', 'score': 0.34}]
chr15 GH15I056469 56469401 56469600 0.64 [{'connected_gene': 'GC15P056467', 'score': 550.77}, {'connected_gene': 'TEX9', 'score': 4.55}, {'connected_gene': 'GC15M057433', 'score': 0.39}]
chr15 GH15I056370 56370190 56373497 0.94 [{'connected_gene': 'ENSG00000259941', 'score': 0.34}, {'connected_gene': 'HMGB1P33', 'score': 0.25}, {'connected_gene': 'TEX9', 'score': 0.13}]