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
ENST00000375110 [[32556678, 32558063], [32560481, 32560845], [32560953, 32561095], [32562090, 32562209], [32573625, 32573978], [32575621, 32575770], [32575853, 32575943], [32576025, 32576202], [32580090, 32580250], [32581423, 32581572], [32581915, 32582122], [32582519, 32582665], [32594699, 32594859], [32667418, 32667726]] [[32557990, 32558063], [32560481, 32560845], [32560953, 32561095], [32562090, 32562209], [32573625, 32573978], [32575621, 32575770], [32575853, 32575943], [32576025, 32576202], [32580090, 32580250], [32581423, 32581572], [32581915, 32582122], [32582519, 32582665], [32594699, 32594859], [32667418, 32667421]]
ENST00000319778 [[32556678, 32558063], [32560481, 32560845], [32560953, 32561095], [32562090, 32562209], [32573625, 32573978], [32575621, 32575770], [32575853, 32575943], [32576025, 32576202], [32580090, 32580250], [32581423, 32581572], [32581915, 32582122], [32582519, 32582665], [32594699, 32594859], [32635690, 32636146]] [[32557990, 32558063], [32560481, 32560845], [32560953, 32561095], [32562090, 32562209], [32573625, 32573978], [32575621, 32575770], [32575853, 32575943], [32576025, 32576202], [32580090, 32580250], [32581423, 32581572], [32581915, 32582122], [32582519, 32582665], [32594699, 32594859], [32635690, 32635843]]
ENST00000263062 [[32557858, 32558063], [32560481, 32560845], [32560953, 32561095], [32561941, 32562010], [32562090, 32562209], [32573625, 32573978], [32575621, 32575770], [32575853, 32575943], [32576025, 32576202], [32580090, 32580250], [32581423, 32581572], [32581915, 32582122], [32582519, 32582665], [32594699, 32594859], [32635690, 32636113]] [[32557990, 32558063], [32560481, 32560845], [32560953, 32561095], [32561941, 32562010], [32562090, 32562209], [32573625, 32573978], [32575621, 32575770], [32575853, 32575943], [32576025, 32576202], [32580090, 32580250], [32581423, 32581572], [32581915, 32582122], [32582519, 32582665], [32594699, 32594859], [32635690, 32635843]]
ENST00000492710 [[32560481, 32560845], [32560953, 32561177]] None
ENST00000476533 [[32560641, 32560845], [32560953, 32561095], [32561941, 32562145]] None
ENST00000479380 [[32561069, 32561095], [32562090, 32562209], [32562849, 32562966], [32573625, 32573978], [32575621, 32575770], [32575853, 32575906]] None
ENST00000495790 [[32570786, 32575943], [32576025, 32576202], [32580090, 32581572], [32581915, 32582122], [32582519, 32582665], [32594699, 32594859], [32635690, 32635747]] None
ENST00000480402 [[32634039, 32634490], [32635690, 32636146]] None
ENST00000469059 [[32634319, 32634551], [32635690, 32636049]] None
ENST00000462470 [[32666040, 32666363], [32667418, 32667542]] None
NM_001282391 [[32556643, 32558063], [32560481, 32560845], [32560953, 32561095], [32562090, 32562209], [32573625, 32573978], [32575621, 32575770], [32575853, 32575943], [32576025, 32576202], [32580090, 32580250], [32581423, 32581572], [32581915, 32582122], [32582519, 32582665], [32594699, 32594859], [32667418, 32667726]] [[32557990, 32558063], [32560481, 32560845], [32560953, 32561095], [32562090, 32562209], [32573625, 32573978], [32575621, 32575770], [32575853, 32575943], [32576025, 32576202], [32580090, 32580250], [32581423, 32581572], [32581915, 32582122], [32582519, 32582665], [32594699, 32594859], [32667418, 32667421]]
NM_001272019 [[32556643, 32558063], [32560481, 32560845], [32560953, 32561095], [32562090, 32562209], [32573625, 32573978], [32575621, 32575770], [32575853, 32575943], [32576025, 32576202], [32580090, 32580250], [32581423, 32581572], [32581915, 32582122], [32582519, 32582665], [32594699, 32594806], [32635861, 32635976]] [[32557990, 32558063], [32560481, 32560845], [32560953, 32561095], [32562090, 32562209], [32573625, 32573978], [32575621, 32575770], [32575853, 32575943], [32576025, 32576202], [32580090, 32580250], [32581423, 32581572], [32581915, 32582122], [32582519, 32582665], [32594699, 32594799]]
NM_025209 [[32556643, 32558063], [32560481, 32560845], [32560953, 32561095], [32561941, 32562010], [32562090, 32562209], [32573625, 32573978], [32575621, 32575770], [32575853, 32575943], [32576025, 32576202], [32580090, 32580250], [32581423, 32581572], [32581915, 32582122], [32582519, 32582665], [32594699, 32594859], [32635690, 32636146]] [[32557990, 32558063], [32560481, 32560845], [32560953, 32561095], [32561941, 32562010], [32562090, 32562209], [32573625, 32573978], [32575621, 32575770], [32575853, 32575943], [32576025, 32576202], [32580090, 32580250], [32581423, 32581572], [32581915, 32582122], [32582519, 32582665], [32594699, 32594859], [32635690, 32635843]]
NM_001272004 [[32556643, 32558063], [32560481, 32560845], [32560953, 32561095], [32562090, 32562209], [32573625, 32573978], [32575621, 32575770], [32575853, 32575943], [32576025, 32576202], [32580090, 32580250], [32581423, 32581572], [32581915, 32582122], [32582519, 32582665], [32594699, 32594859], [32635690, 32636146]] [[32557990, 32558063], [32560481, 32560845], [32560953, 32561095], [32562090, 32562209], [32573625, 32573978], [32575621, 32575770], [32575853, 32575943], [32576025, 32576202], [32580090, 32580250], [32581423, 32581572], [32581915, 32582122], [32582519, 32582665], [32594699, 32594859], [32635690, 32635843]]
NR_104159 [[32634039, 32634551], [32635690, 32636146]] None
NR_104160 [[32634039, 32634490], [32635690, 32636146]] None
Promoter
Chrom Start End Description
chr10 32635978 32635995 CAGE_peak_6_at_EPC1_5end
chr10 32635996 32636023 CAGE_peak_4_at_EPC1_5end
chr10 32636038 32636099 CAGE_peak_1_at_EPC1_5end
chr10 32636106 32636150 CAGE_peak_3_at_EPC1_5end
chr10 32636282 32636294 CAGE_peak_8_at_EPC1_5end
chr10 32667608 32667619 CAGE_peak_7_at_EPC1_5end
chr10 32667648 32667659 CAGE_peak_5_at_EPC1_5end
chr10 32667660 32667735 CAGE_peak_2_at_EPC1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I031925 31925601 31931352 2.68 [{'connected_gene': 'ARHGAP12', 'score': 555.64}, {'connected_gene': 'KIF5B', 'score': 20.54}, {'connected_gene': 'ENSG00000226842', 'score': 12.8}, {'connected_gene': 'EPC1', 'score': 12.7}, {'connected_gene': 'ZEB1-AS1', 'score': 10.52}, {'connected_gene': 'HMGB1P7', 'score': 0.37}]
chr10 GH10I033326 33326262 33327383 0.92 [{'connected_gene': 'EPC1', 'score': 13.9}, {'connected_gene': 'NRP1', 'score': 0.44}, {'connected_gene': 'RN7SL398P', 'score': 0.28}]
chr10 GH10I032331 32331820 32334224 1.59 [{'connected_gene': 'EPC1', 'score': 21.51}, {'connected_gene': 'CCDC7', 'score': 8.61}, {'connected_gene': 'ARHGAP12', 'score': 1.27}, {'connected_gene': 'ENSG00000233825', 'score': 0.39}, {'connected_gene': 'ENSG00000226842', 'score': 0.23}]
chr10 GH10I032300 32300664 32302240 0.38 [{'connected_gene': 'EPC1', 'score': 11.21}, {'connected_gene': 'CCDC7', 'score': 4.88}, {'connected_gene': 'LOC105376486', 'score': 4.11}, {'connected_gene': 'ENSG00000226842', 'score': 0.37}, {'connected_gene': 'ENSG00000233825', 'score': 0.25}]
chr10 GH10I032317 32317002 32319708 1.45 [{'connected_gene': 'EPC1', 'score': 5.08}, {'connected_gene': 'CCDC7', 'score': 2.17}, {'connected_gene': 'ENSG00000233825', 'score': 0.31}, {'connected_gene': 'ENSG00000226842', 'score': 0.28}]
chr10 GH10I033133 33133308 33139886 1.63 [{'connected_gene': 'EPC1', 'score': 12.64}, {'connected_gene': 'ENSG00000226842', 'score': 11.65}, {'connected_gene': 'LOC105376486', 'score': 5.8}, {'connected_gene': 'CCDC7', 'score': 5.09}, {'connected_gene': 'AK3P5', 'score': 4.84}, {'connected_gene': 'LOC101929447', 'score': 0.37}, {'connected_gene': 'ENSG00000238258', 'score': 0.19}]
chr10 GH10I032356 32356989 32357820 0.4 [{'connected_gene': 'EPC1', 'score': 12.47}, {'connected_gene': 'LOC105376486', 'score': 5.01}, {'connected_gene': 'GC10P032352', 'score': 0.77}, {'connected_gene': 'LOC102031319', 'score': 0.39}]
chr10 GH10I032344 32344813 32348667 2.3 [{'connected_gene': 'EPC1', 'score': 562.95}, {'connected_gene': 'LOC102031319', 'score': 550.77}, {'connected_gene': 'ENSG00000233825', 'score': 550.77}, {'connected_gene': 'ENSG00000226842', 'score': 12.95}, {'connected_gene': 'AK3P5', 'score': 11.68}, {'connected_gene': 'CCDC7', 'score': 5.93}]
chr10 GH10I032355 32355976 32356861 0.31 [{'connected_gene': 'EPC1', 'score': 11.59}, {'connected_gene': 'GC10P032352', 'score': 0.77}, {'connected_gene': 'LOC102031319', 'score': 0.44}]
chr10 GH10I032372 32372613 32372762 0.69 [{'connected_gene': 'EPC1', 'score': 0.44}, {'connected_gene': 'GC10P032352', 'score': 0.34}, {'connected_gene': 'LOC102031319', 'score': 0.31}]
chr10 GH10I033320 33320067 33322856 0.52 [{'connected_gene': 'EPC1', 'score': 12.58}, {'connected_gene': 'AK3P5', 'score': 10.98}, {'connected_gene': 'NRP1', 'score': 0.39}, {'connected_gene': 'RN7SL398P', 'score': 0.29}]
chr10 GH10I032978 32978994 32987004 2.16 [{'connected_gene': 'EPC1', 'score': 32.47}, {'connected_gene': 'AK3P5', 'score': 13.79}, {'connected_gene': 'ENSG00000226842', 'score': 12.38}, {'connected_gene': 'CCDC7', 'score': 10.22}, {'connected_gene': 'LOC105376486', 'score': 8.04}, {'connected_gene': 'ITGB1', 'score': 1.76}, {'connected_gene': 'ITGB1-DT', 'score': 0.34}]
chr10 GH10I032376 32376000 32380599 2.51 [{'connected_gene': 'EPC1', 'score': 569.09}, {'connected_gene': 'ENSG00000226842', 'score': 12.9}, {'connected_gene': 'AK3P5', 'score': 12.53}, {'connected_gene': 'CCDC7', 'score': 7.44}, {'connected_gene': 'LOC105376486', 'score': 6.03}, {'connected_gene': 'GC10P032352', 'score': 0.31}]
chr10 GH10I032311 32311275 32313759 0.43 [{'connected_gene': 'EPC1', 'score': 22.7}, {'connected_gene': 'ENSG00000226842', 'score': 11.01}, {'connected_gene': 'AK3P5', 'score': 10.95}, {'connected_gene': 'CCDC7', 'score': 4.23}, {'connected_gene': 'ENSG00000233825', 'score': 0.29}]
chr10 GH10I032144 32144723 32145413 0.73 [{'connected_gene': 'EPC1', 'score': 53.53}, {'connected_gene': 'ENSG00000226842', 'score': 34.06}, {'connected_gene': 'AK3P5', 'score': 25.22}, {'connected_gene': 'ZEB1-AS1', 'score': 18.48}, {'connected_gene': 'KIF5B', 'score': 17.03}, {'connected_gene': 'RNU7-22P', 'score': 11.69}, {'connected_gene': 'ENSG00000206660', 'score': 10.82}, {'connected_gene': 'CCDC7', 'score': 9.88}, {'connected_gene': 'ENSG00000234811', 'score': 0.29}]
chr10 GH10I032322 32322918 32323358 0.58 [{'connected_gene': 'EPC1', 'score': 2.88}, {'connected_gene': 'ENSG00000233825', 'score': 0.34}, {'connected_gene': 'ENSG00000226842', 'score': 0.26}]
chr10 GH10I032375 32375001 32375200 0.52 [{'connected_gene': 'EPC1', 'score': 0.77}, {'connected_gene': 'GC10P032352', 'score': 0.34}]
chr10 GH10I032371 32371785 32372607 0.59 [{'connected_gene': 'CCDC7', 'score': 4.39}, {'connected_gene': 'EPC1', 'score': 0.44}, {'connected_gene': 'GC10P032352', 'score': 0.37}, {'connected_gene': 'LOC102031319', 'score': 0.34}]
chr10 GH10I032386 32386602 32387200 0.43 [{'connected_gene': 'CCDC7', 'score': 6.27}, {'connected_gene': 'RNU6-1244P', 'score': 0.44}, {'connected_gene': 'EPC1', 'score': 0.44}]
chr10 GH10I032367 32367601 32368399 1.14 [{'connected_gene': 'KIF5B', 'score': 9.69}, {'connected_gene': 'ENSG00000206660', 'score': 9.69}, {'connected_gene': 'EPC1', 'score': 0.39}, {'connected_gene': 'GC10P032352', 'score': 0.37}, {'connected_gene': 'LOC102031319', 'score': 0.34}]
chr10 GH10I032366 32366201 32366400 0.2 [{'connected_gene': 'KIF5B', 'score': 9.69}, {'connected_gene': 'ENSG00000206660', 'score': 9.69}, {'connected_gene': 'EPC1', 'score': 0.39}, {'connected_gene': 'GC10P032352', 'score': 0.39}, {'connected_gene': 'LOC102031319', 'score': 0.37}]
chr10 GH10I032947 32947005 32964108 2.78 [{'connected_gene': 'ITGB1', 'score': 562.12}, {'connected_gene': 'LOC105376486', 'score': 22.87}, {'connected_gene': 'EPC1', 'score': 18.09}, {'connected_gene': 'AK3P5', 'score': 12.9}, {'connected_gene': 'ENSG00000226842', 'score': 12.78}, {'connected_gene': 'CCDC7', 'score': 9.39}, {'connected_gene': 'ITGB1-DT', 'score': 0.77}]
chr10 GH10I033003 33003355 33007728 1.7 [{'connected_gene': 'ITGB1', 'score': 550.77}, {'connected_gene': 'AK3P5', 'score': 12.35}, {'connected_gene': 'ENSG00000226842', 'score': 11.76}, {'connected_gene': 'EPC1', 'score': 11.7}, {'connected_gene': 'LOC105376486', 'score': 6.13}, {'connected_gene': 'ITGB1-DT', 'score': 0.25}]
chr10 GH10I032977 32977953 32978102 0.84 [{'connected_gene': 'LOC105376486', 'score': 13.67}, {'connected_gene': 'EPC1', 'score': 11.68}, {'connected_gene': 'ITGB1-DT', 'score': 0.37}, {'connected_gene': 'ITGB1', 'score': 0.31}]
chr10 GH10I032388 32388043 32390685 0.54 [{'connected_gene': 'LOC105376486', 'score': 11.58}, {'connected_gene': 'CCDC7', 'score': 4.9}, {'connected_gene': 'RNU6-1244P', 'score': 0.44}, {'connected_gene': 'EPC1', 'score': 0.39}]
chr10 GH10I032417 32417442 32418971 0.66 [{'connected_gene': 'LOC105376486', 'score': 24.64}, {'connected_gene': 'RNU6-1244P', 'score': 12.22}, {'connected_gene': 'EPC1', 'score': 10.61}, {'connected_gene': 'GC10M032395', 'score': 0.34}, {'connected_gene': 'LOC101929431', 'score': 0.31}]
chr10 GH10I032363 32363077 32364162 0.2 [{'connected_gene': 'LOC105376486', 'score': 5.04}, {'connected_gene': 'GC10P032352', 'score': 0.39}, {'connected_gene': 'LOC102031319', 'score': 0.37}, {'connected_gene': 'EPC1', 'score': 0.37}]
chr10 GH10I032445 32445083 32448140 2.04 [{'connected_gene': 'LOC101929431', 'score': 550.77}, {'connected_gene': 'CCDC7', 'score': 550.77}, {'connected_gene': 'LOC105376486', 'score': 16.25}, {'connected_gene': 'EPC1', 'score': 11.87}, {'connected_gene': 'ITGB1', 'score': 7.34}, {'connected_gene': 'GC10M032511', 'score': 0.2}]
chr10 GH10I032943 32943256 32946695 1.3 [{'connected_gene': 'AK3P5', 'score': 561.7}, {'connected_gene': 'EPC1', 'score': 12.58}, {'connected_gene': 'LOC105376486', 'score': 12.08}, {'connected_gene': 'ENSG00000226842', 'score': 10.74}, {'connected_gene': 'CCDC7', 'score': 7.56}, {'connected_gene': 'ITGB1-DT', 'score': 0.39}, {'connected_gene': 'ITGB1', 'score': 0.21}]
chr10 GH10I033261 33261748 33266818 1.42 [{'connected_gene': 'GC10M033237', 'score': 550.77}, {'connected_gene': 'EPC1', 'score': 12.64}, {'connected_gene': 'NRP1', 'score': 11.84}, {'connected_gene': 'ENSG00000226842', 'score': 11.65}, {'connected_gene': 'ENSG00000238258', 'score': 0.23}]
chr10 GH10I031752 31752814 31761954 1.74 [{'connected_gene': 'ENSG00000222412', 'score': 550.77}, {'connected_gene': 'EPC1', 'score': 15.57}, {'connected_gene': 'ENSG00000226842', 'score': 12.64}, {'connected_gene': 'KIF5B', 'score': 8.29}, {'connected_gene': 'ZEB1', 'score': 1.6}, {'connected_gene': 'HMGB1P7', 'score': 0.1}]
chr10 GH10I032282 32282350 32284079 0.31 [{'connected_gene': 'ENSG00000226842', 'score': 550.77}, {'connected_gene': 'ENSG00000233825', 'score': 0.21}, {'connected_gene': 'EPC1', 'score': 0.15}]
chr10 GH10I032269 32269793 32269942 0.4 [{'connected_gene': 'GC10M032267', 'score': 550.77}, {'connected_gene': 'ENSG00000226842', 'score': 0.39}, {'connected_gene': 'EPC1', 'score': 0.14}]
chr10 GH10I032340 32340601 32340800 0.4 [{'connected_gene': 'ENSG00000233825', 'score': 0.44}, {'connected_gene': 'EPC1', 'score': 0.28}, {'connected_gene': 'ENSG00000226842', 'score': 0.22}]
chr10 GH10I032291 32291483 32292435 0.2 [{'connected_gene': 'ENSG00000226842', 'score': 0.39}, {'connected_gene': 'ENSG00000233825', 'score': 0.23}, {'connected_gene': 'EPC1', 'score': 0.17}]
chr10 GH10I032316 32316001 32316400 0.51 [{'connected_gene': 'ENSG00000233825', 'score': 0.29}, {'connected_gene': 'ENSG00000226842', 'score': 0.29}, {'connected_gene': 'EPC1', 'score': 0.21}]
chr10 GH10I032314 32314202 32315363 0.43 [{'connected_gene': 'ENSG00000233825', 'score': 0.29}, {'connected_gene': 'ENSG00000226842', 'score': 0.29}, {'connected_gene': 'EPC1', 'score': 0.21}]
chr10 GH10I032294 32294338 32295893 0.46 [{'connected_gene': 'ENSG00000226842', 'score': 0.39}, {'connected_gene': 'ENSG00000233825', 'score': 0.23}, {'connected_gene': 'EPC1', 'score': 0.18}]
chr10 GH10I032339 32339001 32339600 0.4 [{'connected_gene': 'ENSG00000233825', 'score': 0.44}, {'connected_gene': 'EPC1', 'score': 0.28}, {'connected_gene': 'ENSG00000226842', 'score': 0.22}]
chr10 GH10I032324 32324918 32327017 0.57 [{'connected_gene': 'ENSG00000233825', 'score': 0.34}, {'connected_gene': 'ENSG00000226842', 'score': 0.26}, {'connected_gene': 'EPC1', 'score': 0.23}]
chr10 GH10I032307 32307166 32308696 0.72 [{'connected_gene': 'ENSG00000226842', 'score': 0.31}, {'connected_gene': 'ENSG00000233825', 'score': 0.28}, {'connected_gene': 'EPC1', 'score': 0.19}]
chr10 GH10I032267 32267755 32268120 0.51 [{'connected_gene': 'ENSG00000227253', 'score': 550.77}, {'connected_gene': 'GC10M032267', 'score': 550.77}, {'connected_gene': 'EPC1', 'score': 0.14}]
chr10 GH10I032328 32328321 32330600 0.71 [{'connected_gene': 'ENSG00000233825', 'score': 0.37}, {'connected_gene': 'EPC1', 'score': 0.25}, {'connected_gene': 'ENSG00000226842', 'score': 0.25}]
chr10 GH10I032297 32297489 32299200 0.95 [{'connected_gene': 'ENSG00000226842', 'score': 0.37}, {'connected_gene': 'ENSG00000233825', 'score': 0.25}, {'connected_gene': 'EPC1', 'score': 0.18}]
chr10 GH10I032276 32276261 32277671 0.2 [{'connected_gene': 'ENSG00000226842', 'score': 0.77}, {'connected_gene': 'GC10M032267', 'score': 0.44}, {'connected_gene': 'EPC1', 'score': 0.15}]
chr10 GH10I032273 32273201 32273400 0.4 [{'connected_gene': 'GC10M032267', 'score': 0.77}, {'connected_gene': 'ENSG00000226842', 'score': 0.44}, {'connected_gene': 'EPC1', 'score': 0.14}]
chr10 GH10I032336 32336552 32338940 0.74 [{'connected_gene': 'ENSG00000226842', 'score': 10.16}, {'connected_gene': 'CCDC7', 'score': 5.94}, {'connected_gene': 'ENSG00000233825', 'score': 0.44}, {'connected_gene': 'EPC1', 'score': 0.26}]
chr10 GH10I032268 32268532 32268754 0.4 [{'connected_gene': 'GC10M032267', 'score': 550.77}, {'connected_gene': 'LOC105376486', 'score': 4.76}, {'connected_gene': 'ENSG00000227253', 'score': 0.77}, {'connected_gene': 'EPC1', 'score': 0.14}]
chr10 GH10I032352 32352313 32353313 1.1 [{'connected_gene': 'GC10P032352', 'score': 550.77}, {'connected_gene': 'LOC102031319', 'score': 0.44}, {'connected_gene': 'EPC1', 'score': 0.31}]
chr10 GH10I032360 32360896 32362064 0.52 [{'connected_gene': 'GC10P032352', 'score': 0.44}, {'connected_gene': 'LOC102031319', 'score': 0.39}, {'connected_gene': 'EPC1', 'score': 0.37}]

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