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
ENST00000529818 [[924893, 924937], [959436, 959505], [970168, 970311], [972061, 972255], [977094, 977193]] None
ENST00000529858 [[925869, 926088], [956785, 956982], [959436, 959505], [970168, 970233]] None
ENST00000525796 [[925871, 926000], [972217, 972255], [977094, 977224], [981197, 981299], [984644, 984753], [985434, 985477]] [[977101, 977224], [981197, 981299], [984644, 984753], [985434, 985477]]
ENST00000534328 [[925879, 926088], [959436, 959505], [970168, 970311], [972061, 972255], [977094, 977224], [981197, 981299], [984644, 984753], [985434, 985597], [1010547, 1010919]] [[926021, 926088], [959436, 959505], [970168, 970311], [972061, 972255], [977094, 977224], [981197, 981299], [984644, 984753], [985434, 985597], [1010547, 1010707]]
ENST00000332231 [[925880, 926088], [959436, 959505], [970168, 970311], [972061, 972255], [977094, 977224], [981197, 981299], [984644, 984753], [985431, 985582], [986784, 986953], [988551, 988689], [992502, 992685], [993283, 993381], [993753, 993985], [994071, 994245], [1000431, 1000598], [1003721, 1003804], [1006527, 1006619], [1008013, 1008135], [1009099, 1009216], [1009327, 1009397], [1009682, 1009817], [1010547, 1010917]] [[926021, 926088], [959436, 959505], [970168, 970311], [972061, 972255], [977094, 977224], [981197, 981299], [984644, 984753], [985431, 985582], [986784, 986953], [988551, 988689], [992502, 992685], [993283, 993381], [993753, 993985], [994071, 994245], [1000431, 1000598], [1003721, 1003804], [1006527, 1006619], [1008013, 1008135], [1009099, 1009216], [1009327, 1009397], [1009682, 1009817], [1010547, 1010625]]
ENST00000448903 [[925880, 926088], [959436, 959505], [970168, 970311], [972061, 972255], [977094, 977224], [981197, 981299], [984644, 984753], [985434, 985582], [986784, 986953], [988551, 988689], [992502, 992685], [993283, 993381], [993753, 993985], [994071, 994245], [1000431, 1000598], [1003721, 1003804], [1006527, 1006617], [1008011, 1008135], [1009099, 1009216], [1009327, 1009397], [1009682, 1009817], [1010547, 1012239]] [[926021, 926088], [959436, 959505], [970168, 970311], [972061, 972255], [977094, 977224], [981197, 981299], [984644, 984753], [985434, 985582], [986784, 986953], [988551, 988689], [992502, 992685], [993283, 993381], [993753, 993985], [994071, 994245], [1000431, 1000598], [1003721, 1003804], [1006527, 1006617], [1008011, 1008135], [1009099, 1009216], [1009327, 1009397], [1009682, 1009817], [1010547, 1010625]]
ENST00000528815 [[925899, 926088], [959436, 959505], [970168, 970311], [972061, 972255], [977094, 977224], [981197, 981299], [984644, 984753], [985431, 985582], [986784, 986953], [988551, 988689], [992502, 992685], [993283, 993381], [993753, 993985], [994071, 994245], [1003721, 1003804], [1006527, 1006617], [1008011, 1008135], [1009099, 1009216], [1009327, 1009397], [1009682, 1009817], [1010547, 1010919]] [[926021, 926088], [959436, 959505], [970168, 970311], [972061, 972255], [977094, 977224], [981197, 981299], [984644, 984753], [985431, 985582], [986784, 986953], [988551, 988689], [992502, 992685], [993283, 993381], [993753, 993985], [994071, 994245], [1003721, 1003733]]
ENST00000528195 [[925944, 926088], [959436, 959505], [993862, 993985], [994071, 994245], [1000431, 1000483]] None
ENST00000531548 [[932692, 932777], [959436, 959505], [970168, 970311], [972061, 972255], [977094, 977157]] [[932692, 932777], [959436, 959505], [970168, 970311], [972061, 972255], [977094, 977157]]
ENST00000534485 [[933560, 933597], [959436, 959505], [970168, 970311], [972061, 972255], [977094, 977207]] [[933560, 933597], [959436, 959505], [970168, 970311], [972061, 972255], [977094, 977207]]
ENST00000527024 [[940734, 940894], [959436, 959505], [970168, 970311], [972061, 972216]] [[940845, 940894], [959436, 959505], [970168, 970311], [972061, 972216]]
ENST00000526753 [[942278, 942394], [959436, 959505], [970168, 970311], [972061, 972197]] [[970260, 970311], [972061, 972197]]
ENST00000530801 [[943099, 943314], [959436, 959505], [970168, 970311], [972061, 972191]] [[970260, 970311], [972061, 972191]]
ENST00000524559 [[946460, 946963], [959436, 959505], [970168, 970311], [972061, 972255], [977094, 977120]] [[970260, 970311], [972061, 972255], [977094, 977120]]
ENST00000527917 [[985383, 985582], [986784, 986846]] None
ENST00000524952 [[985537, 985582], [986784, 986953], [988551, 988827]] None
ENST00000525891 [[996063, 996225], [1000431, 1000598], [1003721, 1003804], [1006527, 1006617], [1008011, 1008135], [1009099, 1009216]] None
ENST00000529438 [[1001325, 1001444], [1003721, 1003804], [1006527, 1006617], [1008011, 1008135], [1009099, 1009216], [1009327, 1009366]] None
ENST00000526401 [[1003666, 1003804], [1006527, 1006617], [1008011, 1008135], [1009099, 1009216], [1009327, 1009397], [1009682, 1009774]] None
ENST00000526376 [[1003731, 1003804], [1006527, 1007040]] None
ENST00000529427 [[1006543, 1006617], [1008011, 1008282]] None
ENST00000531497 [[1006708, 1009216], [1009327, 1009397], [1009682, 1010926]] None
ENST00000528816 [[1009354, 1009397], [1009682, 1010237]] None
NR_144509 [[925808, 926088], [959436, 959505], [970168, 970311], [972061, 972255], [977094, 977224], [981197, 981299], [984644, 984753], [985434, 985582], [986784, 986953], [988551, 988689], [992502, 992685], [993283, 993381], [993753, 993985], [994071, 994245], [1003721, 1003804], [1006527, 1006617], [1008011, 1008135], [1009099, 1009216], [1009327, 1009397], [1009682, 1009817], [1010547, 1012245]] None
NM_012305 [[925808, 926088], [959436, 959505], [970168, 970311], [972061, 972255], [977094, 977224], [981197, 981299], [984644, 984753], [985434, 985582], [986784, 986953], [988551, 988689], [992502, 992685], [993283, 993381], [993753, 993985], [994071, 994245], [1000431, 1000598], [1003721, 1003804], [1006527, 1006617], [1008011, 1008135], [1009099, 1009216], [1009327, 1009397], [1009682, 1009817], [1010547, 1012245]] [[926021, 926088], [959436, 959505], [970168, 970311], [972061, 972255], [977094, 977224], [981197, 981299], [984644, 984753], [985434, 985582], [986784, 986953], [988551, 988689], [992502, 992685], [993283, 993381], [993753, 993985], [994071, 994245], [1000431, 1000598], [1003721, 1003804], [1006527, 1006617], [1008011, 1008135], [1009099, 1009216], [1009327, 1009397], [1009682, 1009817], [1010547, 1010625]]
NR_144510 [[925808, 926088], [959436, 959505], [970168, 970311], [972061, 972255], [977094, 977224], [981197, 981299], [984644, 984753], [985431, 985582], [986784, 986953], [988551, 988689], [992502, 992685], [993283, 993381], [993753, 993985], [994071, 994245], [1003721, 1003804], [1006527, 1006617], [1008011, 1008135], [1009099, 1009216], [1009327, 1009397], [1009682, 1009817], [1010547, 1012245]] None
NM_001242837 [[925808, 926088], [959436, 959505], [970168, 970311], [972061, 972255], [977094, 977224], [981197, 981299], [984644, 984753], [985431, 985582], [986784, 986953], [988551, 988689], [992502, 992685], [993283, 993381], [993753, 993985], [994071, 994245], [1000431, 1000598], [1003721, 1003804], [1006527, 1006617], [1008011, 1008135], [1009099, 1009216], [1009327, 1009397], [1009682, 1009817], [1010547, 1012245]] [[926021, 926088], [959436, 959505], [970168, 970311], [972061, 972255], [977094, 977224], [981197, 981299], [984644, 984753], [985431, 985582], [986784, 986953], [988551, 988689], [992502, 992685], [993283, 993381], [993753, 993985], [994071, 994245], [1000431, 1000598], [1003721, 1003804], [1006527, 1006617], [1008011, 1008135], [1009099, 1009216], [1009327, 1009397], [1009682, 1009817], [1010547, 1010625]]
Promoter
Chrom Start End Description
chr11 925438 925445 CAGE_peak_20_at_AP2A2_5end
chr11 925449 925458 CAGE_peak_17_at_AP2A2_5end
chr11 925824 925976 CAGE_peak_1_at_AP2A2_5end
chr11 926053 926060 CAGE_peak_2_at_AP2A2_5end
chr11 933519 933549 CAGE_peak_3_at_AP2A2_5end
chr11 933555 933565 CAGE_peak_7_at_AP2A2_5end
chr11 940729 940745 CAGE_peak_5_at_AP2A2_5end
chr11 1006616 1006623 CAGE_peak_6_at_AP2A2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I000839 839992 847569 2.25 [{'connected_gene': 'TSPAN4', 'score': 574.81}, {'connected_gene': 'POLR2L', 'score': 556.07}, {'connected_gene': 'GC11M000841', 'score': 550.77}, {'connected_gene': 'CD151', 'score': 50.69}, {'connected_gene': 'SNORA52', 'score': 29.58}, {'connected_gene': 'RPLP2', 'score': 26.64}, {'connected_gene': 'TMEM80', 'score': 25.95}, {'connected_gene': 'PIDD1', 'score': 23.35}, {'connected_gene': 'RIC8A', 'score': 21.73}, {'connected_gene': 'BET1L', 'score': 15.48}, {'connected_gene': 'ENSG00000255237', 'score': 13.61}, {'connected_gene': 'B4GALNT4', 'score': 13.27}, {'connected_gene': 'PHRF1', 'score': 12.95}, {'connected_gene': 'BRSK2', 'score': 11.54}, {'connected_gene': 'GATD1', 'score': 11.33}, {'connected_gene': 'SLC25A22', 'score': 11.33}, {'connected_gene': 'AP2A2', 'score': 11.32}, {'connected_gene': 'CEND1', 'score': 11.31}, {'connected_gene': 'ENSG00000255158', 'score': 10.55}, {'connected_gene': 'DEAF1', 'score': 9.95}, {'connected_gene': 'CHID1', 'score': 5.18}, {'connected_gene': 'PIR52875', 'score': 0.77}, {'connected_gene': 'ENSG00000250397', 'score': 0.37}]
chr11 GH11I000904 904864 904923 0.5 [{'connected_gene': 'CHID1', 'score': 550.39}, {'connected_gene': 'AP2A2', 'score': 11.91}, {'connected_gene': 'PIDD1', 'score': 11.02}, {'connected_gene': 'RPLP2', 'score': 11.02}, {'connected_gene': 'SLC25A22', 'score': 11.01}, {'connected_gene': 'CEND1', 'score': 11.0}, {'connected_gene': 'CD151', 'score': 8.92}, {'connected_gene': 'GC11P000900', 'score': 0.77}]
chr11 GH11I000951 951377 959742 1.33 [{'connected_gene': 'PIDD1', 'score': 12.89}, {'connected_gene': 'DRD4', 'score': 12.67}, {'connected_gene': 'TMEM80', 'score': 11.11}, {'connected_gene': 'GATD1', 'score': 10.84}, {'connected_gene': 'ENSG00000255142', 'score': 10.8}, {'connected_gene': 'ENSG00000255158', 'score': 10.23}, {'connected_gene': 'LOC101927503', 'score': 7.14}, {'connected_gene': 'POLR2L', 'score': 6.06}, {'connected_gene': 'AP2A2', 'score': 5.28}, {'connected_gene': 'LOC171391', 'score': 4.44}, {'connected_gene': 'RNU6-1025P', 'score': 0.44}, {'connected_gene': 'GC11P000950', 'score': 0.44}, {'connected_gene': 'GC11P000968', 'score': 0.39}]
chr11 GH11I001043 1043654 1043838 0.52 [{'connected_gene': 'MUC6', 'score': 44.62}, {'connected_gene': 'AP2A2', 'score': 11.44}, {'connected_gene': 'GC11P001047', 'score': 0.77}, {'connected_gene': 'LOC101927503', 'score': 0.77}]
chr11 GH11I001051 1051121 1051390 1.02 [{'connected_gene': 'MUC2', 'score': 12.83}, {'connected_gene': 'AP2A2', 'score': 11.52}, {'connected_gene': 'PIDD1', 'score': 10.95}, {'connected_gene': 'RPLP2', 'score': 10.95}, {'connected_gene': 'SLC25A22', 'score': 10.16}, {'connected_gene': 'CEND1', 'score': 10.16}, {'connected_gene': 'GC11P001047', 'score': 0.77}, {'connected_gene': 'PIR44225', 'score': 0.44}, {'connected_gene': 'LOC101927503', 'score': 0.39}]
chr11 GH11I001052 1052920 1055973 0.74 [{'connected_gene': 'MUC2', 'score': 12.68}, {'connected_gene': 'LOC101927503', 'score': 6.17}, {'connected_gene': 'AP2A2', 'score': 5.62}, {'connected_gene': 'GC11P001047', 'score': 0.44}, {'connected_gene': 'PIR44225', 'score': 0.44}]
chr11 GH11I001453 1453671 1453820 0.56 [{'connected_gene': 'KRTAP5-AS1', 'score': 12.68}, {'connected_gene': 'MOB2', 'score': 12.13}, {'connected_gene': 'AP2A2', 'score': 10.07}, {'connected_gene': 'GC11P001451', 'score': 0.77}, {'connected_gene': 'LOC105376514', 'score': 0.77}, {'connected_gene': 'BRSK2', 'score': 0.21}]
chr11 GH11I000975 975861 976090 0.54 [{'connected_gene': 'CRACR2B', 'score': 5.36}, {'connected_gene': 'GC11P000968', 'score': 0.44}, {'connected_gene': 'GC11M000999', 'score': 0.29}, {'connected_gene': 'AP2A2', 'score': 0.23}]
chr11 GH11I000922 922397 923530 0.66 [{'connected_gene': 'AP2A2', 'score': 550.77}, {'connected_gene': 'CHID1', 'score': 5.58}, {'connected_gene': 'POLR2L', 'score': 5.18}, {'connected_gene': 'PIR40639', 'score': 0.77}]
chr11 GH11I000890 890261 890410 0.31 [{'connected_gene': 'AP2A2', 'score': 11.79}, {'connected_gene': 'CHID1', 'score': 10.67}, {'connected_gene': 'GC11M000881', 'score': 0.44}, {'connected_gene': 'GC11P000900', 'score': 0.39}]
chr11 GH11I000894 894941 895050 0.31 [{'connected_gene': 'AP2A2', 'score': 11.92}, {'connected_gene': 'GC11P000900', 'score': 0.44}, {'connected_gene': 'GC11M000881', 'score': 0.39}, {'connected_gene': 'CHID1', 'score': 0.34}]
chr11 GH11I000898 898121 898350 0.49 [{'connected_gene': 'AP2A2', 'score': 11.92}, {'connected_gene': 'PIDD1', 'score': 11.03}, {'connected_gene': 'RPLP2', 'score': 11.03}, {'connected_gene': 'SLC25A22', 'score': 11.02}, {'connected_gene': 'CEND1', 'score': 11.01}, {'connected_gene': 'CD151', 'score': 9.96}, {'connected_gene': 'GC11P000900', 'score': 0.77}, {'connected_gene': 'GC11M000881', 'score': 0.37}, {'connected_gene': 'CHID1', 'score': 0.37}]
chr11 GH11I001050 1050670 1051038 0.72 [{'connected_gene': 'AP2A2', 'score': 11.41}, {'connected_gene': 'PIDD1', 'score': 10.16}, {'connected_gene': 'RPLP2', 'score': 10.16}, {'connected_gene': 'SLC25A22', 'score': 10.16}, {'connected_gene': 'CEND1', 'score': 10.16}, {'connected_gene': 'LOC101927503', 'score': 6.36}, {'connected_gene': 'LMNTD2', 'score': 4.32}, {'connected_gene': 'GC11P001047', 'score': 0.77}, {'connected_gene': 'PIR44225', 'score': 0.44}]
chr11 GH11I000939 939465 943793 1.26 [{'connected_gene': 'AP2A2', 'score': 7.32}, {'connected_gene': 'POLR2L', 'score': 5.72}, {'connected_gene': 'IRF7', 'score': 5.0}, {'connected_gene': 'LOC171391', 'score': 4.29}, {'connected_gene': 'GC11P000950', 'score': 0.44}, {'connected_gene': 'GC11M000925', 'score': 0.39}]
chr11 GH11I000924 924301 929307 2.62 [{'connected_gene': 'AP2A2', 'score': 558.7}, {'connected_gene': 'GC11M000925', 'score': 550.77}, {'connected_gene': 'POLR2L', 'score': 5.58}, {'connected_gene': 'LRRC56', 'score': 4.87}, {'connected_gene': 'BRSK2', 'score': 1.94}, {'connected_gene': 'CEND1', 'score': 1.3}]
chr11 GH11I001042 1042041 1042250 0.85 [{'connected_gene': 'AP2A2', 'score': 11.44}, {'connected_gene': 'LOC101927503', 'score': 0.77}, {'connected_gene': 'GC11P001047', 'score': 0.44}]
chr11 GH11I000995 995741 995890 0.66 [{'connected_gene': 'RNU6-1025P', 'score': 11.83}, {'connected_gene': 'AP2A2', 'score': 11.78}, {'connected_gene': 'PIDD1', 'score': 10.69}, {'connected_gene': 'RPLP2', 'score': 10.69}, {'connected_gene': 'SLC25A22', 'score': 10.69}, {'connected_gene': 'CEND1', 'score': 10.68}, {'connected_gene': 'GC11M000999', 'score': 0.39}, {'connected_gene': 'GC11P000968', 'score': 0.31}]
chr11 GH11I000996 995361 995470 0.38 [{'connected_gene': 'RNU6-1025P', 'score': 11.83}, {'connected_gene': 'AP2A2', 'score': 11.78}, {'connected_gene': 'PIDD1', 'score': 10.69}, {'connected_gene': 'RPLP2', 'score': 10.69}, {'connected_gene': 'SLC25A22', 'score': 10.69}, {'connected_gene': 'CEND1', 'score': 10.68}, {'connected_gene': 'GC11M000999', 'score': 0.39}, {'connected_gene': 'GC11P000968', 'score': 0.31}]
chr11 GH11I000930 930878 938730 1.17 [{'connected_gene': 'LOC101927503', 'score': 6.78}, {'connected_gene': 'POLR2L', 'score': 5.84}, {'connected_gene': 'AP2A2', 'score': 5.42}, {'connected_gene': 'IRF7', 'score': 5.03}, {'connected_gene': 'LRRC56', 'score': 4.87}, {'connected_gene': 'GC11M000925', 'score': 0.44}, {'connected_gene': 'GC11P000950', 'score': 0.39}]
chr11 GH11I001039 1039281 1040901 1.03 [{'connected_gene': 'LOC101927503', 'score': 550.77}, {'connected_gene': 'MUC6', 'score': 35.86}, {'connected_gene': 'AP2A2', 'score': 17.95}, {'connected_gene': 'CD151', 'score': 4.8}, {'connected_gene': 'GC11P001047', 'score': 0.44}]
chr11 GH11I000836 836784 839613 1.13 [{'connected_gene': 'GC11M000839', 'score': 550.77}, {'connected_gene': 'CD151', 'score': 62.43}, {'connected_gene': 'SNORA52', 'score': 12.55}, {'connected_gene': 'PIDD1', 'score': 12.55}, {'connected_gene': 'RPLP2', 'score': 12.55}, {'connected_gene': 'SLC25A22', 'score': 11.36}, {'connected_gene': 'CEND1', 'score': 11.33}, {'connected_gene': 'AP2A2', 'score': 11.31}, {'connected_gene': 'POLR2L', 'score': 0.77}, {'connected_gene': 'PIR52875', 'score': 0.77}]
chr11 GH11I000943 943974 948398 0.92 [{'connected_gene': 'GC11P000950', 'score': 550.77}, {'connected_gene': 'POLR2L', 'score': 5.48}, {'connected_gene': 'AP2A2', 'score': 5.33}, {'connected_gene': 'GC11M000925', 'score': 0.37}]
chr11 GH11I000966 966423 967310 0.56 [{'connected_gene': 'GC11P000968', 'score': 550.77}, {'connected_gene': 'AP2A2', 'score': 12.45}, {'connected_gene': 'CHID1', 'score': 11.41}, {'connected_gene': 'POLR2L', 'score': 5.47}, {'connected_gene': 'CD151', 'score': 4.78}, {'connected_gene': 'RNU6-1025P', 'score': 0.37}]
chr11 GH11I000967 967692 969046 0.31 [{'connected_gene': 'GC11P000968', 'score': 550.77}, {'connected_gene': 'AP2A2', 'score': 18.66}, {'connected_gene': 'CHID1', 'score': 11.41}, {'connected_gene': 'LOC101927503', 'score': 6.83}, {'connected_gene': 'CEND1', 'score': 4.68}, {'connected_gene': 'SIGIRR', 'score': 4.55}, {'connected_gene': 'RNU6-1025P', 'score': 0.37}]
chr11 GH11I000969 969574 970933 0.31 [{'connected_gene': 'GC11P000968', 'score': 550.77}, {'connected_gene': 'AP2A2', 'score': 17.53}, {'connected_gene': 'RNU6-1025P', 'score': 13.3}, {'connected_gene': 'CHID1', 'score': 11.51}, {'connected_gene': 'LOC101927503', 'score': 6.83}, {'connected_gene': 'POLR2L', 'score': 6.54}, {'connected_gene': 'KRTAP5-AS1', 'score': 5.63}, {'connected_gene': 'GC11M000999', 'score': 0.28}]
chr11 GH11I000986 986741 986910 0.59 [{'connected_gene': 'GC11P000968', 'score': 0.37}, {'connected_gene': 'GC11M000999', 'score': 0.34}, {'connected_gene': 'AP2A2', 'score': 0.21}]
chr11 GH11I001005 1005929 1007202 0.31 [{'connected_gene': 'GC11M000999', 'score': 550.77}, {'connected_gene': 'GC11P000968', 'score': 0.28}, {'connected_gene': 'AP2A2', 'score': 0.18}]
chr11 GH11I000976 976781 976930 0.31 [{'connected_gene': 'GC11P000968', 'score': 0.44}, {'connected_gene': 'GC11M000999', 'score': 0.29}, {'connected_gene': 'AP2A2', 'score': 0.23}]
chr11 GH11I001057 1057490 1058359 0.2 [{'connected_gene': 'PIR44225', 'score': 550.77}, {'connected_gene': 'LOC101927503', 'score': 5.91}, {'connected_gene': 'ENSG00000255142', 'score': 5.24}, {'connected_gene': 'AP2A2', 'score': 4.9}, {'connected_gene': 'LMNTD2', 'score': 4.25}, {'connected_gene': 'GC11P001047', 'score': 0.39}]

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