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
ENST00000556478 [[50999226, 50999591], [51026844, 51027017], [51054548, 51054654]] None
ENST00000441560 [[50999743, 51000085], [51026844, 51027017], [51054548, 51054796], [51057658, 51057793], [51058252, 51058357], [51060563, 51060614], [51062293, 51062350], [51079976, 51080069], [51081090, 51081229], [51087316, 51087444], [51088560, 51088617], [51089894, 51089966], [51094748, 51095180], [51098946, 51099767]] [[51026983, 51027017], [51054548, 51054796], [51057658, 51057793], [51058252, 51058357], [51060563, 51060614], [51062293, 51062350], [51079976, 51080069], [51081090, 51081229], [51087316, 51087444], [51088560, 51088617], [51089894, 51089966], [51094748, 51095180], [51098946, 51099057]]
ENST00000555960 [[51025804, 51025986], [51026844, 51027017], [51054548, 51054796], [51057658, 51057675]] [[51026983, 51027017], [51054548, 51054796], [51057658, 51057675]]
ENST00000553509 [[51026269, 51026568], [51026844, 51027017], [51054548, 51054603]] [[51026983, 51027017], [51054548, 51054603]]
ENST00000354525 [[51026742, 51027017], [51054548, 51054796], [51057658, 51057793], [51058252, 51058357], [51060563, 51060614], [51062293, 51062350], [51079976, 51080069], [51081090, 51081229], [51087316, 51087444], [51088560, 51088617], [51089894, 51089966], [51094748, 51095180], [51098946, 51099782]] [[51026983, 51027017], [51054548, 51054796], [51057658, 51057793], [51058252, 51058357], [51060563, 51060614], [51062293, 51062350], [51079976, 51080069], [51081090, 51081229], [51087316, 51087444], [51088560, 51088617], [51089894, 51089966], [51094748, 51095180], [51098946, 51099057]]
ENST00000357032 [[51026742, 51027017], [51054548, 51054796], [51057658, 51057793], [51058252, 51058357], [51060563, 51060614], [51062293, 51062350], [51079976, 51080069], [51081090, 51081229], [51087316, 51087444], [51088560, 51088617], [51089894, 51089966], [51094748, 51095180], [51095283, 51095298], [51098946, 51099782]] [[51026983, 51027017], [51054548, 51054796], [51057658, 51057793], [51058252, 51058357], [51060563, 51060614], [51062293, 51062350], [51079976, 51080069], [51081090, 51081229], [51087316, 51087444], [51088560, 51088617], [51089894, 51089966], [51094748, 51095180], [51095283, 51095298], [51098946, 51099057]]
ENST00000358385 [[51026742, 51027017], [51054548, 51054796], [51057658, 51057793], [51058252, 51058357], [51060563, 51060614], [51062293, 51062350], [51079976, 51080069], [51081090, 51081229], [51087316, 51087444], [51088560, 51088617], [51089894, 51089966], [51094748, 51095180], [51096712, 51096727], [51098946, 51099786]] [[51026983, 51027017], [51054548, 51054796], [51057658, 51057793], [51058252, 51058357], [51060563, 51060614], [51062293, 51062350], [51079976, 51080069], [51081090, 51081229], [51087316, 51087444], [51088560, 51088617], [51089894, 51089966], [51094748, 51095180], [51096712, 51096727], [51098946, 51099057]]
ENST00000554886 [[51026848, 51027017], [51057658, 51057793], [51058252, 51058357], [51060563, 51060614], [51062293, 51062350], [51079976, 51080004]] [[51058267, 51058357], [51060563, 51060614], [51062293, 51062350], [51079976, 51080004]]
ENST00000557735 [[51027004, 51027218], [51054548, 51054796], [51057658, 51057766]] [[51054763, 51054796], [51057658, 51057766]]
ENST00000553746 [[51057706, 51057793], [51058252, 51058535]] None
ENST00000555266 [[51081096, 51081229], [51088560, 51088617], [51089894, 51089966], [51094748, 51094869]] [[51081096, 51081229], [51088560, 51088586]]
ENST00000556067 [[51094883, 51095180], [51096712, 51096727], [51097649, 51097795], [51098946, 51099038]] [[51094883, 51095180], [51096712, 51096727], [51097649, 51097655]]
NM_001127713 [[50999799, 51000085], [51026844, 51027017], [51054548, 51054796], [51057658, 51057793], [51058252, 51058357], [51060563, 51060614], [51062293, 51062350], [51079976, 51080069], [51081090, 51081229], [51087316, 51087444], [51088560, 51088617], [51089894, 51089966], [51094748, 51095180], [51098946, 51099786]] [[51026983, 51027017], [51054548, 51054796], [51057658, 51057793], [51058252, 51058357], [51060563, 51060614], [51062293, 51062350], [51079976, 51080069], [51081090, 51081229], [51087316, 51087444], [51088560, 51088617], [51089894, 51089966], [51094748, 51095180], [51098946, 51099057]]
NM_181598 [[51026742, 51027017], [51054548, 51054796], [51057658, 51057793], [51058252, 51058357], [51060563, 51060614], [51062293, 51062350], [51079976, 51080069], [51081090, 51081229], [51087316, 51087444], [51088560, 51088617], [51089894, 51089966], [51094748, 51095180], [51098946, 51099786]] [[51026983, 51027017], [51054548, 51054796], [51057658, 51057793], [51058252, 51058357], [51060563, 51060614], [51062293, 51062350], [51079976, 51080069], [51081090, 51081229], [51087316, 51087444], [51088560, 51088617], [51089894, 51089966], [51094748, 51095180], [51098946, 51099057]]
NM_015915 [[51026742, 51027017], [51054548, 51054796], [51057658, 51057793], [51058252, 51058357], [51060563, 51060614], [51062293, 51062350], [51079976, 51080069], [51081090, 51081229], [51087316, 51087444], [51088560, 51088617], [51089894, 51089966], [51094748, 51095180], [51096712, 51096727], [51098946, 51099786]] [[51026983, 51027017], [51054548, 51054796], [51057658, 51057793], [51058252, 51058357], [51060563, 51060614], [51062293, 51062350], [51079976, 51080069], [51081090, 51081229], [51087316, 51087444], [51088560, 51088617], [51089894, 51089966], [51094748, 51095180], [51096712, 51096727], [51098946, 51099057]]
Promoter
Chrom Start End Description
chr14 50999496 50999521 CAGE_peak_6_at_ATL1_5end
chr14 50999764 50999775 CAGE_peak_9_at_ATL1_5end
chr14 50999792 50999805 CAGE_peak_8_at_ATL1_5end
chr14 51026813 51026835 CAGE_peak_2_at_ATL1_5end
chr14 51026844 51026853 CAGE_peak_3_at_ATL1_5end
chr14 51026855 51026870 CAGE_peak_1_at_ATL1_5end
chr14 51026926 51026929 CAGE_peak_4_at_ATL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I089444 89444875 89445205 0.27 [{'connected_gene': 'LRRC8C', 'score': 17.72}, {'connected_gene': 'GBP3', 'score': 9.44}, {'connected_gene': 'GBP2', 'score': 6.8}, {'connected_gene': 'GBP4', 'score': 3.02}, {'connected_gene': 'GBP1', 'score': 2.84}, {'connected_gene': 'LRRC8B', 'score': 1.91}, {'connected_gene': 'PIR33822', 'score': 0.37}, {'connected_gene': 'GC01M089463', 'score': 0.34}]
chr1 GH01I089451 89451099 89451248 0.52 [{'connected_gene': 'LRRC8C', 'score': 17.31}, {'connected_gene': 'GBP6', 'score': 11.08}, {'connected_gene': 'GBP3', 'score': 9.36}, {'connected_gene': 'GBP2', 'score': 6.71}, {'connected_gene': 'GBP4', 'score': 2.81}, {'connected_gene': 'GBP1', 'score': 2.36}, {'connected_gene': 'LRRC8B', 'score': 1.81}, {'connected_gene': 'GC01M089463', 'score': 0.37}, {'connected_gene': 'PIR33822', 'score': 0.34}]
chr1 GH01I088990 88990547 88994566 2.49 [{'connected_gene': 'KYAT3', 'score': 550.77}, {'connected_gene': 'RBMXL1', 'score': 550.77}, {'connected_gene': 'GBP3', 'score': 86.11}, {'connected_gene': 'GBP5', 'score': 10.91}, {'connected_gene': 'GBP6', 'score': 10.8}, {'connected_gene': 'GBP7', 'score': 5.12}, {'connected_gene': 'PTGES3P1', 'score': 4.75}, {'connected_gene': 'GC01M088952', 'score': 0.28}]
chr1 GH01I088700 88700001 88702600 1.22 [{'connected_gene': 'GBP3', 'score': 14.58}, {'connected_gene': 'PKN2', 'score': 10.9}, {'connected_gene': 'RBMXL1', 'score': 10.37}, {'connected_gene': 'GTF2B', 'score': 7.95}, {'connected_gene': 'GBP2', 'score': 6.73}, {'connected_gene': 'GBP4', 'score': 3.37}, {'connected_gene': 'GBP1', 'score': 2.6}, {'connected_gene': 'GC01P088703', 'score': 0.77}, {'connected_gene': 'PKN2-AS1', 'score': 0.37}]
chr1 GH01I088777 88777630 88778730 0.6 [{'connected_gene': 'GBP3', 'score': 4.42}, {'connected_gene': 'GC01M088742', 'score': 0.28}, {'connected_gene': 'GC01P088818', 'score': 0.28}, {'connected_gene': 'PKN2', 'score': 0.16}]
chr1 GH01I089113 89113557 89116007 0.31 [{'connected_gene': 'GBP3', 'score': 20.06}, {'connected_gene': 'GBP7', 'score': 10.72}, {'connected_gene': 'GBP5', 'score': 10.12}, {'connected_gene': 'PTGES3P1', 'score': 0.44}, {'connected_gene': 'LOC105378842', 'score': 0.39}, {'connected_gene': 'GBP2', 'score': 0.28}]
chr1 GH01I089259 89259170 89263271 0.83 [{'connected_gene': 'GBP3', 'score': 12.41}, {'connected_gene': 'GBP7', 'score': 5.4}, {'connected_gene': 'GBP5', 'score': 0.39}, {'connected_gene': 'LOC100421401', 'score': 0.34}]
chr1 GH01I089101 89101446 89102833 0.2 [{'connected_gene': 'GBP3', 'score': 20.25}, {'connected_gene': 'GBP6', 'score': 10.7}, {'connected_gene': 'PTGES3P1', 'score': 4.94}, {'connected_gene': 'GC01M089104', 'score': 0.77}, {'connected_gene': 'GBP1', 'score': 0.28}, {'connected_gene': 'LOC105378841', 'score': 0.2}]
chr1 GH01I089020 89020988 89023716 1.96 [{'connected_gene': 'GBP3', 'score': 562.66}, {'connected_gene': 'GC01M089021', 'score': 550.77}, {'connected_gene': 'ENSG00000202385', 'score': 550.77}, {'connected_gene': 'GBP6', 'score': 10.58}, {'connected_gene': 'GBP5', 'score': 10.22}, {'connected_gene': 'PKN2', 'score': 10.0}, {'connected_gene': 'GBP1', 'score': 5.1}]
chr1 GH01I089081 89081001 89081400 0.72 [{'connected_gene': 'GBP3', 'score': 22.99}, {'connected_gene': 'GBP5', 'score': 10.99}, {'connected_gene': 'GBP7', 'score': 10.39}, {'connected_gene': 'RBMXL1', 'score': 4.52}, {'connected_gene': 'GBP1', 'score': 0.37}, {'connected_gene': 'GC01M089104', 'score': 0.34}, {'connected_gene': 'LOC105378841', 'score': 0.25}]
chr1 GH01I089051 89051339 89052801 0.66 [{'connected_gene': 'GBP3', 'score': 49.53}, {'connected_gene': 'GBP5', 'score': 10.1}, {'connected_gene': 'GBP7', 'score': 9.51}, {'connected_gene': 'RBMXL1', 'score': 4.64}, {'connected_gene': 'GC01M089045', 'score': 0.44}, {'connected_gene': 'GBP1', 'score': 0.39}, {'connected_gene': 'LOC105378841', 'score': 0.37}]
chr1 GH01I089048 89048351 89048718 0.2 [{'connected_gene': 'GBP3', 'score': 11.52}, {'connected_gene': 'GBP5', 'score': 10.1}, {'connected_gene': 'GBP7', 'score': 9.51}, {'connected_gene': 'GC01M089045', 'score': 0.77}, {'connected_gene': 'LOC105378841', 'score': 0.39}, {'connected_gene': 'GBP1', 'score': 0.37}]
chr1 GH01I089041 89041070 89041600 0.91 [{'connected_gene': 'GBP3', 'score': 11.53}, {'connected_gene': 'GBP5', 'score': 10.28}, {'connected_gene': 'GC01M089045', 'score': 0.77}, {'connected_gene': 'LOC105378841', 'score': 0.44}]
chr1 GH01I089269 89269201 89269800 0.69 [{'connected_gene': 'GBP3', 'score': 6.53}, {'connected_gene': 'GBP5', 'score': 0.77}, {'connected_gene': 'LOC100421401', 'score': 0.29}]
chr1 GH01I089103 89103031 89110672 0.56 [{'connected_gene': 'PTGES3P1', 'score': 556.21}, {'connected_gene': 'GBP7', 'score': 35.74}, {'connected_gene': 'GBP3', 'score': 23.45}, {'connected_gene': 'GBP6', 'score': 10.7}, {'connected_gene': 'LOC100421401', 'score': 10.26}, {'connected_gene': 'GBP5', 'score': 10.21}, {'connected_gene': 'GC01M089104', 'score': 0.77}, {'connected_gene': 'LOC105378842', 'score': 0.34}, {'connected_gene': 'GBP2', 'score': 0.26}]
chr1 GH01I089124 89124263 89128187 2.05 [{'connected_gene': 'GBP2', 'score': 550.34}, {'connected_gene': 'GBP7', 'score': 37.36}, {'connected_gene': 'GBP3', 'score': 20.85}, {'connected_gene': 'GBP4', 'score': 11.87}, {'connected_gene': 'GBP5', 'score': 11.2}, {'connected_gene': 'PTGES3P1', 'score': 5.14}, {'connected_gene': 'LOC105378842', 'score': 0.77}]
chr1 GH01I089063 89063609 89066309 1.68 [{'connected_gene': 'GBP1', 'score': 550.77}, {'connected_gene': 'GBP3', 'score': 24.38}, {'connected_gene': 'GBP5', 'score': 10.88}, {'connected_gene': 'PKN2', 'score': 9.99}, {'connected_gene': 'GBP7', 'score': 9.59}, {'connected_gene': 'PTGES3P1', 'score': 4.41}, {'connected_gene': 'GC01M089045', 'score': 0.37}, {'connected_gene': 'LOC105378841', 'score': 0.29}]
chr1 GH01I089069 89069665 89070800 1.04 [{'connected_gene': 'GBP1', 'score': 47.24}, {'connected_gene': 'GBP5', 'score': 29.84}, {'connected_gene': 'GBP7', 'score': 26.06}, {'connected_gene': 'GBP4', 'score': 24.99}, {'connected_gene': 'GBP2', 'score': 11.45}, {'connected_gene': 'GBP6', 'score': 10.26}, {'connected_gene': 'GBP3', 'score': 9.61}, {'connected_gene': 'GTF2B', 'score': 6.02}, {'connected_gene': 'GC01M089104', 'score': 0.29}, {'connected_gene': 'LOC105378841', 'score': 0.28}]
chr1 GH01I089351 89351593 89351858 0.4 [{'connected_gene': 'GBP1', 'score': 39.0}, {'connected_gene': 'GBP5', 'score': 34.74}, {'connected_gene': 'GBP4', 'score': 17.32}, {'connected_gene': 'GBP2', 'score': 16.77}, {'connected_gene': 'GTF2B', 'score': 8.28}, {'connected_gene': 'LRRC8C', 'score': 3.82}, {'connected_gene': 'GBP3', 'score': 2.34}, {'connected_gene': 'PIR56754', 'score': 0.44}, {'connected_gene': 'GBP6', 'score': 0.39}]
chr1 GH01I089309 89309629 89312167 1.36 [{'connected_gene': 'GBP1', 'score': 51.98}, {'connected_gene': 'GBP5', 'score': 34.0}, {'connected_gene': 'GBP4', 'score': 21.86}, {'connected_gene': 'GBP2', 'score': 15.91}, {'connected_gene': 'GTF2B', 'score': 7.81}, {'connected_gene': 'PKN2', 'score': 5.22}, {'connected_gene': 'GBP3', 'score': 4.79}, {'connected_gene': 'LOC101927975', 'score': 4.24}, {'connected_gene': 'LRRC8C', 'score': 3.57}, {'connected_gene': 'ENSG00000233235', 'score': 0.39}, {'connected_gene': 'GC01P089291', 'score': 0.37}]
chr1 GH01I089284 89284727 89288153 1.33 [{'connected_gene': 'GBP1', 'score': 61.46}, {'connected_gene': 'GBP5', 'score': 35.65}, {'connected_gene': 'GBP4', 'score': 35.19}, {'connected_gene': 'GBP2', 'score': 14.64}, {'connected_gene': 'GBP6', 'score': 10.85}, {'connected_gene': 'GTF2B', 'score': 7.4}, {'connected_gene': 'LRRC8C', 'score': 3.51}, {'connected_gene': 'GBP3', 'score': 1.71}, {'connected_gene': 'LOC729930', 'score': 0.77}, {'connected_gene': 'GC01P089283', 'score': 0.77}, {'connected_gene': 'LOC100421401', 'score': 0.25}]
chr1 GH01I089277 89277765 89280569 1.09 [{'connected_gene': 'GBP1', 'score': 35.51}, {'connected_gene': 'GBP5', 'score': 32.1}, {'connected_gene': 'GBP4', 'score': 29.22}, {'connected_gene': 'GBP2', 'score': 12.04}, {'connected_gene': 'LOC100421401', 'score': 10.69}, {'connected_gene': 'GBP7', 'score': 9.72}, {'connected_gene': 'GTF2B', 'score': 5.74}, {'connected_gene': 'LRRC8C', 'score': 2.83}, {'connected_gene': 'KYAT3', 'score': 1.73}, {'connected_gene': 'GBP3', 'score': 1.7}, {'connected_gene': 'GC01P089283', 'score': 0.77}]
chr1 GH01I089271 89271717 89275687 1.89 [{'connected_gene': 'GBP5', 'score': 580.88}, {'connected_gene': 'GBP1', 'score': 62.68}, {'connected_gene': 'GBP4', 'score': 25.28}, {'connected_gene': 'GBP2', 'score': 25.21}, {'connected_gene': 'GTF2B', 'score': 13.97}, {'connected_gene': 'GBP3', 'score': 12.44}, {'connected_gene': 'LRRC8C', 'score': 9.67}, {'connected_gene': 'GC01P089283', 'score': 0.44}, {'connected_gene': 'LOC100421401', 'score': 0.28}]
chr1 GH01I089421 89421907 89422279 0.29 [{'connected_gene': 'GBP5', 'score': 18.36}, {'connected_gene': 'GBP4', 'score': 18.19}, {'connected_gene': 'GBP2', 'score': 17.08}, {'connected_gene': 'GBP1', 'score': 15.62}, {'connected_gene': 'GBP7', 'score': 9.38}, {'connected_gene': 'LRRC8C', 'score': 8.92}, {'connected_gene': 'LRRC8B', 'score': 5.62}, {'connected_gene': 'GBP3', 'score': 3.8}, {'connected_gene': 'PIR33822', 'score': 0.44}, {'connected_gene': 'GBP1P1', 'score': 0.39}]
chr1 GH01I089197 89197556 89201698 2.06 [{'connected_gene': 'GBP4', 'score': 550.77}, {'connected_gene': 'ENSG00000284734', 'score': 550.77}, {'connected_gene': 'GBP3', 'score': 22.67}, {'connected_gene': 'GBP7', 'score': 14.98}, {'connected_gene': 'ENSG00000284637', 'score': 0.77}]
chr1 GH01I089128 89128396 89130169 1.32 [{'connected_gene': 'LOC105378842', 'score': 550.77}, {'connected_gene': 'GBP1', 'score': 45.8}, {'connected_gene': 'GBP5', 'score': 33.01}, {'connected_gene': 'GBP4', 'score': 28.25}, {'connected_gene': 'GBP2', 'score': 16.77}, {'connected_gene': 'GBP7', 'score': 10.97}, {'connected_gene': 'GTF2B', 'score': 8.76}, {'connected_gene': 'GBP3', 'score': 7.12}, {'connected_gene': 'PTGES3P1', 'score': 4.75}]
chr1 GH01I089130 89130201 89130600 0.51 [{'connected_gene': 'LOC105378842', 'score': 550.77}, {'connected_gene': 'GBP4', 'score': 11.51}, {'connected_gene': 'GBP7', 'score': 10.71}, {'connected_gene': 'GBP3', 'score': 5.01}, {'connected_gene': 'GBP2', 'score': 0.34}]
chr1 GH01I089034 89034859 89035946 0.4 [{'connected_gene': 'LOC105378841', 'score': 550.77}, {'connected_gene': 'GBP3', 'score': 74.06}, {'connected_gene': 'GBP5', 'score': 10.28}, {'connected_gene': 'GC01M089045', 'score': 0.39}]
chr1 GH01I089755 89755708 89759599 1.13 [{'connected_gene': 'LOC101927975', 'score': 34.09}, {'connected_gene': 'LRRC8C', 'score': 29.61}, {'connected_gene': 'LRRC8C-DT', 'score': 12.45}, {'connected_gene': 'GBP3', 'score': 6.58}, {'connected_gene': 'GBP5', 'score': 2.5}, {'connected_gene': 'ZNF326', 'score': 1.48}, {'connected_gene': 'GC01P089762', 'score': 0.77}, {'connected_gene': 'LOC101927952', 'score': 0.44}, {'connected_gene': 'GC01M089737', 'score': 0.37}, {'connected_gene': 'GC01P089694', 'score': 0.21}, {'connected_gene': 'ENSG00000271949', 'score': 0.13}]
chr1 GH01I089043 89043758 89046836 1.09 [{'connected_gene': 'GC01M089045', 'score': 550.77}, {'connected_gene': 'GBP3', 'score': 55.37}, {'connected_gene': 'GBP5', 'score': 11.25}, {'connected_gene': 'GBP7', 'score': 10.75}, {'connected_gene': 'RBMXL1', 'score': 4.66}, {'connected_gene': 'LOC105378841', 'score': 0.39}]
chr1 GH01I089001 89001251 89001492 0.26 [{'connected_gene': 'GC01P089002', 'score': 550.77}, {'connected_gene': 'GBP3', 'score': 24.37}, {'connected_gene': 'GBP5', 'score': 10.39}, {'connected_gene': 'GBP7', 'score': 9.74}, {'connected_gene': 'GTF2B', 'score': 1.37}, {'connected_gene': 'GBP2', 'score': 1.26}, {'connected_gene': 'KYAT3', 'score': 0.44}, {'connected_gene': 'RBMXL1', 'score': 0.44}]
chr1 GH01I089010 89010043 89010095 0.42 [{'connected_gene': 'GC01P089002', 'score': 0.44}, {'connected_gene': 'GC01M089021', 'score': 0.39}, {'connected_gene': 'GBP3', 'score': 0.39}, {'connected_gene': 'ENSG00000202385', 'score': 0.39}]

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