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
ENST00000052754 [[91539024, 91540029], [91545430, 91545569], [91546872, 91546966], [91550851, 91550965], [91552072, 91552286], [91558381, 91558494], [91572118, 91572362], [91576431, 91576900]] [[91539834, 91540029], [91545430, 91545569], [91546872, 91546966], [91550851, 91550965], [91552072, 91552286], [91558381, 91558494], [91572118, 91572329]]
ENST00000425043 [[91539035, 91540029], [91545430, 91545569], [91546872, 91546966], [91572118, 91572329]] [[91539834, 91540029], [91545430, 91545569], [91546872, 91546966], [91572118, 91572329]]
ENST00000393155 [[91539035, 91540029], [91545430, 91545569], [91546872, 91546966], [91550851, 91550965], [91552072, 91552286], [91558381, 91558494], [91572118, 91572362], [91573138, 91573359]] [[91539834, 91540029], [91545430, 91545569], [91546872, 91546966], [91550851, 91550965], [91552072, 91552286], [91558381, 91558494], [91572118, 91572329]]
ENST00000228329 [[91539035, 91540029], [91545430, 91545569], [91546872, 91546966], [91550851, 91550965], [91572118, 91572362], [91576431, 91576806]] [[91539834, 91540029], [91545430, 91545569], [91546872, 91546966], [91550851, 91550965], [91572118, 91572329]]
ENST00000303320 [[91539035, 91540029], [91558381, 91558494], [91572118, 91572362], [91576431, 91576806]] [[91539834, 91540029], [91558381, 91558494], [91572118, 91572329]]
ENST00000548218 [[91539302, 91539511], [91539838, 91539985]] [[91539501, 91539511], [91539838, 91539985]]
ENST00000552962 [[91539512, 91540029], [91545430, 91545569], [91546872, 91546966], [91550851, 91550965], [91552072, 91552286], [91558381, 91558494], [91572118, 91572362], [91573138, 91573463], [91576431, 91576601]] [[91539834, 91540029], [91545430, 91545569], [91546872, 91546966], [91550851, 91550965], [91552072, 91552286], [91558381, 91558494], [91572118, 91572329]]
ENST00000441303 [[91539834, 91540029], [91558381, 91558494], [91572118, 91572329]] [[91539834, 91540029], [91558381, 91558494], [91572118, 91572329]]
ENST00000420120 [[91539834, 91540029], [91545430, 91545569], [91546872, 91546966], [91550851, 91550965], [91572118, 91572329]] [[91539834, 91540029], [91545430, 91545569], [91546872, 91546966], [91550851, 91550965], [91572118, 91572329]]
ENST00000547568 [[91539834, 91540029], [91545430, 91545569], [91546872, 91546966], [91572118, 91572362], [91576431, 91576582]] [[91539834, 91540029], [91545430, 91545569], [91546872, 91546966], [91572118, 91572329]]
ENST00000546391 [[91539942, 91540029], [91545430, 91545569], [91546872, 91546966], [91572118, 91572362], [91573138, 91573290]] [[91539942, 91540029], [91545430, 91545569], [91546872, 91546966], [91572118, 91572329]]
ENST00000456569 [[91540012, 91540029], [91572118, 91572329]] [[91540012, 91540029], [91572118, 91572329]]
ENST00000550758 [[91544559, 91545569], [91546872, 91546926]] [[91545337, 91545569], [91546872, 91546926]]
ENST00000547937 [[91552072, 91552286], [91558381, 91558494], [91572118, 91572362], [91573963, 91574142]] [[91552072, 91552286], [91558381, 91558494], [91572118, 91572329]]
ENST00000552145 [[91552074, 91552286], [91558381, 91558494], [91572118, 91572362], [91576350, 91576429]] [[91552074, 91552286], [91558381, 91558494], [91572118, 91572329]]
ENST00000550563 [[91552088, 91552286], [91558381, 91558494], [91572118, 91572362], [91573094, 91573132]] [[91552088, 91552286], [91558381, 91558494], [91572118, 91572329]]
ENST00000549513 [[91552252, 91552286], [91558381, 91558494], [91572118, 91572362], [91574224, 91574753]] [[91552252, 91552286], [91558381, 91558494], [91572118, 91572329]]
ENST00000546370 [[91563410, 91563674], [91572118, 91572362], [91573138, 91573216]] [[91563618, 91563674], [91572118, 91572329]]
ENST00000546745 [[91565918, 91566645], [91572118, 91572362], [91576431, 91576486]] [[91566559, 91566645], [91572118, 91572329]]
ENST00000550099 [[91566304, 91566645], [91572118, 91572362], [91573138, 91573272]] [[91566559, 91566645], [91572118, 91572329]]
ENST00000551354 [[91568894, 91571402], [91572118, 91572362], [91573138, 91573310]] [[91571310, 91571402], [91572118, 91572329]]
ENST00000548768 [[91572975, 91573509], [91574224, 91574258]] None
NM_133506 [[91537053, 91540029], [91558381, 91558494], [91572118, 91572423]] [[91539834, 91540029], [91558381, 91558494], [91572118, 91572329]]
NM_133504 [[91537053, 91540029], [91545430, 91545569], [91546872, 91546966], [91550851, 91550965], [91572118, 91572423]] [[91539834, 91540029], [91545430, 91545569], [91546872, 91546966], [91550851, 91550965], [91572118, 91572329]]
NM_133505 [[91537053, 91540029], [91545430, 91545569], [91546872, 91546966], [91572118, 91572423]] [[91539834, 91540029], [91545430, 91545569], [91546872, 91546966], [91572118, 91572329]]
NM_133507 [[91537053, 91540029], [91572118, 91572423]] [[91540012, 91540029], [91572118, 91572329]]
NM_133503 [[91537053, 91540029], [91545430, 91545569], [91546872, 91546966], [91550851, 91550965], [91552072, 91552286], [91558381, 91558494], [91572118, 91572362], [91573138, 91573395]] [[91539834, 91540029], [91545430, 91545569], [91546872, 91546966], [91550851, 91550965], [91552072, 91552286], [91558381, 91558494], [91572118, 91572329]]
NM_001920 [[91537053, 91540029], [91545430, 91545569], [91546872, 91546966], [91550851, 91550965], [91552072, 91552286], [91558381, 91558494], [91572118, 91572362], [91576431, 91576901]] [[91539834, 91540029], [91545430, 91545569], [91546872, 91546966], [91550851, 91550965], [91552072, 91552286], [91558381, 91558494], [91572118, 91572329]]
Promoter
Chrom Start End Description
chr12 91546941 91546972 CAGE_peak_10_at_DCN_5end
chr12 91572143 91572274 CAGE_peak_6_at_DCN_5end
chr12 91572278 91572327 CAGE_peak_9_at_DCN_5end
chr12 91572370 91572383 CAGE_peak_18_at_DCN_5end
chr12 91572389 91572404 CAGE_peak_14_at_DCN_5end
chr12 91573228 91573245 CAGE_peak_4_at_DCN_5end
chr12 91573249 91573308 CAGE_peak_2_at_DCN_5end
chr12 91573316 91573365 CAGE_peak_3_at_DCN_5end
chr12 91574278 91574289 CAGE_peak_23_at_DCN_5end
chr12 91576471 91576491 CAGE_peak_5_at_DCN_5end
chr12 91576497 91576508 CAGE_peak_8_at_DCN_5end
chr12 91576561 91576613 CAGE_peak_1_at_DCN_5end
chr12 91576750 91576805 CAGE_peak_7_at_DCN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I091137 91137887 91143694 1.4 [{'connected_gene': 'LUM', 'score': 11.4}, {'connected_gene': 'DCN', 'score': 11.32}, {'connected_gene': 'KERA', 'score': 10.58}, {'connected_gene': 'LOC105369897', 'score': 6.67}]
chr12 GH12I091357 91357052 91358153 0.62 [{'connected_gene': 'LUM', 'score': 10.42}, {'connected_gene': 'DCN', 'score': 10.18}, {'connected_gene': 'GC12M091347', 'score': 0.44}, {'connected_gene': 'LOC105369898', 'score': 0.44}, {'connected_gene': 'LOC105369897', 'score': 0.29}]
chr12 GH12I091126 91126352 91128645 0.51 [{'connected_gene': 'LUM', 'score': 0.37}, {'connected_gene': 'DCN', 'score': 0.22}]
chr12 GH12I091184 91184797 91186912 0.66 [{'connected_gene': 'LUM', 'score': 10.19}, {'connected_gene': 'DCN', 'score': 0.77}, {'connected_gene': 'ENSG00000258148', 'score': 0.44}]
chr12 GH12I091215 91215396 91216496 0.46 [{'connected_gene': 'DCN', 'score': 11.2}, {'connected_gene': 'LUM', 'score': 10.19}, {'connected_gene': 'ENSG00000258148', 'score': 0.34}, {'connected_gene': 'LOC105369897', 'score': 0.14}]
chr12 GH12I091216 91216984 91217133 0.2 [{'connected_gene': 'DCN', 'score': 20.77}, {'connected_gene': 'LUM', 'score': 10.19}, {'connected_gene': 'ENSG00000258148', 'score': 0.34}, {'connected_gene': 'LOC105369897', 'score': 0.14}]
chr12 GH12I091175 91175010 91184708 2.03 [{'connected_gene': 'DCN', 'score': 550.77}, {'connected_gene': 'KERA', 'score': 14.63}, {'connected_gene': 'LUM', 'score': 10.22}, {'connected_gene': 'LOC105369897', 'score': 7.09}]
chr12 GH12I091122 91122481 91124846 0.31 [{'connected_gene': 'DCN', 'score': 11.49}, {'connected_gene': 'KERA', 'score': 10.53}, {'connected_gene': 'LUM', 'score': 0.39}]
chr12 GH12I091249 91249014 91251184 0.49 [{'connected_gene': 'DCN', 'score': 10.28}, {'connected_gene': 'ENSG00000258148', 'score': 0.22}, {'connected_gene': 'LOC105369897', 'score': 0.18}, {'connected_gene': 'LOC105369898', 'score': 0.13}]
chr12 GH12I091303 91303985 91304542 0.2 [{'connected_gene': 'DCN', 'score': 10.52}, {'connected_gene': 'LOC105369897', 'score': 0.34}, {'connected_gene': 'LOC105369898', 'score': 0.21}, {'connected_gene': 'ENSG00000258148', 'score': 0.14}]
chr12 GH12I091272 91272401 91276074 0.69 [{'connected_gene': 'DCN', 'score': 10.12}, {'connected_gene': 'LOC105369897', 'score': 8.18}, {'connected_gene': 'ENSG00000258148', 'score': 0.18}, {'connected_gene': 'LOC105369898', 'score': 0.16}]
chr12 GH12I091210 91210007 91212330 0.31 [{'connected_gene': 'DCN', 'score': 11.41}, {'connected_gene': 'ENSG00000258148', 'score': 0.37}, {'connected_gene': 'LOC105369897', 'score': 0.13}]
chr12 GH12I091222 91222313 91223571 0.31 [{'connected_gene': 'DCN', 'score': 10.79}, {'connected_gene': 'LOC105369897', 'score': 6.9}, {'connected_gene': 'ENSG00000258148', 'score': 0.31}]
chr12 GH12I091219 91219406 91220224 0.2 [{'connected_gene': 'DCN', 'score': 10.79}, {'connected_gene': 'ENSG00000258148', 'score': 0.31}, {'connected_gene': 'LOC105369897', 'score': 0.14}]
chr12 GH12I091188 91188247 91189109 0.4 [{'connected_gene': 'DCN', 'score': 0.44}, {'connected_gene': 'ENSG00000258148', 'score': 0.44}]
chr12 GH12I091132 91132786 91134645 0.51 [{'connected_gene': 'KERA', 'score': 5.55}, {'connected_gene': 'LUM', 'score': 0.34}, {'connected_gene': 'DCN', 'score': 0.25}]
chr12 GH12I091036 91036623 91038661 0.2 [{'connected_gene': 'KERA', 'score': 11.56}, {'connected_gene': 'EPYC', 'score': 11.47}, {'connected_gene': 'DCN', 'score': 9.73}]
chr12 GH12I091171 91171407 91174103 0.51 [{'connected_gene': 'KERA', 'score': 15.14}, {'connected_gene': 'LOC105369897', 'score': 7.07}, {'connected_gene': 'DCN', 'score': 0.39}, {'connected_gene': 'LUM', 'score': 0.21}]
chr12 GH12I091189 91189586 91189882 0.54 [{'connected_gene': 'ENSG00000258148', 'score': 0.77}, {'connected_gene': 'DCN', 'score': 0.44}]

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