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
ENST00000359242 [[86814343, 86817891], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86822126, 86822285], [86824469, 86824574], [86826108, 86826219], [86834318, 86834405], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86851140, 86851273], [86852597, 86852762], [86861715, 86861945]] [[86817873, 86817891], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86822126, 86822285], [86824469, 86824574], [86826108, 86826219], [86834318, 86834405], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86851140, 86851273], [86852597, 86852710]]
ENST00000460698 [[86814419, 86814561], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86822126, 86822285], [86824469, 86824574], [86826108, 86826219], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879]] [[86814432, 86814561], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86822126, 86822285], [86824469, 86824574], [86826108, 86826219], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879]]
ENST00000317336 [[86814420, 86814561], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86822126, 86822285], [86824469, 86824574], [86826108, 86826219], [86834318, 86834405], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86851140, 86851273], [86852597, 86852769], [86861715, 86862003]] [[86814432, 86814561], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86822126, 86822285], [86824469, 86824574], [86826108, 86826219], [86834318, 86834405], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86851140, 86851273], [86852597, 86852710]]
ENST00000370567 [[86814420, 86814561], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86822126, 86822285], [86824469, 86824574], [86826108, 86826219], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86851140, 86851273], [86852597, 86852769], [86861715, 86862003]] [[86814432, 86814561], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86822126, 86822285], [86824469, 86824574], [86826108, 86826219], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86851140, 86851273], [86852597, 86852710]]
ENST00000394731 [[86814420, 86814561], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86822126, 86822285], [86824469, 86824574], [86826108, 86826219], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86852597, 86852769], [86861715, 86862003]] [[86814432, 86814561], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86822126, 86822285], [86824469, 86824574], [86826108, 86826219], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848858]]
ENST00000370566 [[86814420, 86814561], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86824469, 86824574], [86826108, 86826219], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86851140, 86851273], [86852597, 86852769], [86861715, 86862023]] [[86814432, 86814561], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86824469, 86824574], [86826108, 86826219], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86851140, 86851273], [86852597, 86852710]]
ENST00000462648 [[86814514, 86814561], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86821027, 86821066]] [[86814514, 86814561], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86821027, 86821066]]
ENST00000294678 [[86815776, 86817891], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86821027, 86821066], [86822126, 86822285], [86824469, 86824574], [86826108, 86826219], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86851140, 86851273], [86852597, 86852769], [86861715, 86861963]] [[86817873, 86817891], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86821027, 86821066], [86822126, 86822285], [86824469, 86824574], [86826108, 86826219], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86851140, 86851273], [86852597, 86852710]]
ENST00000531412 [[86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86821027, 86821071], [86821676, 86821690], [86822126, 86822227]] [[86820537, 86820542], [86821027, 86821071], [86821676, 86821690], [86822126, 86822227]]
ENST00000476054 [[86818584, 86818667], [86820212, 86820375], [86820456, 86820542], [86824469, 86824574], [86826108, 86826495]] None
ENST00000473792 [[86818602, 86818667], [86820212, 86820375], [86820456, 86821000]] None
ENST00000524695 [[86822144, 86822285], [86824469, 86824574], [86826108, 86826219], [86836700, 86836836], [86838113, 86838223], [86840605, 86840683]] None
ENST00000472144 [[86822258, 86822285], [86824469, 86824574], [86826108, 86826604]] None
ENST00000463933 [[86823622, 86823788], [86824469, 86824574], [86826108, 86826219]] None
ENST00000534092 [[86824026, 86824574], [86826108, 86826219], [86836700, 86836739]] None
ENST00000496592 [[86824469, 86824574], [86826108, 86826219], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86848613, 86848762]] None
ENST00000488879 [[86824499, 86824574], [86826108, 86826219], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86852597, 86852769], [86861715, 86861969]] [[86850465, 86850484], [86852597, 86852710]]
ENST00000479890 [[86824501, 86824574], [86826108, 86826219], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86848613, 86848685], [86848816, 86848879], [86861715, 86861966]] [[86824501, 86824574], [86826108, 86826219], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86848613, 86848685], [86848816, 86848858]]
ENST00000486557 [[86826114, 86826219], [86836700, 86836836], [86838113, 86838264]] None
ENST00000472368 [[86836738, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848787]] None
ENST00000480440 [[86847624, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86851140, 86851227]] None
ENST00000394733 [[86848008, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86851140, 86851273], [86861715, 86861936]] [[86848008, 86848041], [86848613, 86848685], [86848816, 86848858]]
ENST00000478286 [[86851410, 86852769], [86861715, 86862006]] [[86852527, 86852710]]
ENST00000486215 [[86852491, 86852769], [86861627, 86861660]] [[86852527, 86852710]]
NM_001184765 [[86812506, 86814561], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86824469, 86824574], [86826108, 86826219], [86834318, 86834405], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86851140, 86851273], [86852597, 86852769], [86861715, 86862025]] [[86814432, 86814561], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86824469, 86824574], [86826108, 86826219], [86834318, 86834405], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86851140, 86851273], [86852597, 86852710]]
NM_001184766 [[86812506, 86814561], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86824469, 86824574], [86826108, 86826219], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86851140, 86851273], [86852597, 86852769], [86861715, 86862025]] [[86814432, 86814561], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86824469, 86824574], [86826108, 86826219], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86851140, 86851273], [86852597, 86852710]]
NM_020729 [[86815776, 86817891], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86821027, 86821066], [86822126, 86822285], [86824469, 86824574], [86826108, 86826219], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86851140, 86851273], [86852597, 86852769], [86861715, 86862025]] [[86817873, 86817891], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86821027, 86821066], [86822126, 86822285], [86824469, 86824574], [86826108, 86826219], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86851140, 86851273], [86852597, 86852710]]
NM_001007022 [[86815776, 86817891], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86822126, 86822285], [86824469, 86824574], [86826108, 86826219], [86834318, 86834405], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86851140, 86851273], [86852597, 86852762], [86861715, 86862025]] [[86817873, 86817891], [86818541, 86818667], [86820212, 86820375], [86820456, 86820542], [86822126, 86822285], [86824469, 86824574], [86826108, 86826219], [86834318, 86834405], [86836700, 86836836], [86838113, 86838223], [86841915, 86842101], [86847924, 86848041], [86848613, 86848685], [86848816, 86848879], [86850358, 86850484], [86851140, 86851273], [86852597, 86852710]]
Promoter
Chrom Start End Description
chr1 86848760 86848810 CAGE_peak_3_at_ODF2L_5end
chr1 86861699 86861710 CAGE_peak_5_at_ODF2L_5end
chr1 86861733 86861763 CAGE_peak_2_at_ODF2L_5end
chr1 86861948 86862020 CAGE_peak_1_at_ODF2L_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I086423 86423172 86425938 0.81 [{'connected_gene': 'CLCA2', 'score': 550.77}, {'connected_gene': 'ODF2L', 'score': 18.67}, {'connected_gene': 'CLCA1', 'score': 10.94}]
chr1 GH01I086421 86421424 86423019 0.38 [{'connected_gene': 'CLCA2', 'score': 574.36}, {'connected_gene': 'ODF2L', 'score': 18.72}, {'connected_gene': 'GC01M086406', 'score': 0.77}]
chr1 GH01I087327 87327200 87332822 2.64 [{'connected_gene': 'LMO4', 'score': 550.77}, {'connected_gene': 'ODF2L', 'score': 10.19}, {'connected_gene': 'GC01P087340', 'score': 0.39}]
chr1 GH01I086388 86388727 86390153 0.2 [{'connected_gene': 'ODF2L', 'score': 22.82}, {'connected_gene': 'CLCA2', 'score': 11.44}, {'connected_gene': 'CLCA1', 'score': 10.99}, {'connected_gene': 'GC01P086383', 'score': 0.44}]
chr1 GH01I086428 86428819 86431071 1.02 [{'connected_gene': 'ODF2L', 'score': 32.62}, {'connected_gene': 'CLCA2', 'score': 24.32}, {'connected_gene': 'CLCA1', 'score': 11.25}]
chr1 GH01I086380 86380201 86380601 0.79 [{'connected_gene': 'ODF2L', 'score': 22.7}, {'connected_gene': 'CLCA2', 'score': 10.89}, {'connected_gene': 'GC01P086383', 'score': 0.77}, {'connected_gene': 'MIR7856', 'score': 0.34}]
chr1 GH01I086393 86393874 86397835 1.92 [{'connected_gene': 'ODF2L', 'score': 573.22}, {'connected_gene': 'CLCA2', 'score': 22.96}, {'connected_gene': 'GC01P086383', 'score': 0.39}]
chr1 GH01I086207 86207309 86209016 0.68 [{'connected_gene': 'ODF2L', 'score': 12.34}, {'connected_gene': 'COL24A1', 'score': 5.29}, {'connected_gene': 'GC01P086180', 'score': 0.31}, {'connected_gene': 'LOC105378824', 'score': 0.14}]
chr1 GH01I086780 86780559 86781667 1.29 [{'connected_gene': 'ODF2L', 'score': 12.3}, {'connected_gene': 'LOC105378828', 'score': 5.35}, {'connected_gene': 'RPL17P5', 'score': 0.77}, {'connected_gene': 'GC01P086761', 'score': 0.37}]
chr1 GH01I086409 86409183 86410102 0.74 [{'connected_gene': 'ODF2L', 'score': 29.61}, {'connected_gene': 'LOC100420166', 'score': 0.77}, {'connected_gene': 'GC01M086406', 'score': 0.44}]
chr1 GH01I085706 85706796 85709617 2.07 [{'connected_gene': 'ZNHIT6', 'score': 572.52}, {'connected_gene': 'ODF2L', 'score': 12.28}, {'connected_gene': 'DDAH1', 'score': 10.04}, {'connected_gene': 'CYR61', 'score': 10.04}, {'connected_gene': 'PIR53460', 'score': 0.23}]
chr1 GH01I085604 85604570 85614535 1.65 [{'connected_gene': 'CYR61', 'score': 17.74}, {'connected_gene': 'ZNHIT6', 'score': 16.16}, {'connected_gene': 'DDAH1', 'score': 14.68}, {'connected_gene': 'ODF2L', 'score': 11.33}, {'connected_gene': 'ENSG00000230285', 'score': 0.39}, {'connected_gene': 'GC01P085628', 'score': 0.37}]
chr1 GH01I086154 86154602 86157541 1.88 [{'connected_gene': 'COL24A1', 'score': 558.27}, {'connected_gene': 'ODF2L', 'score': 20.39}, {'connected_gene': 'ZNHIT6', 'score': 11.96}, {'connected_gene': 'BCL10', 'score': 11.78}, {'connected_gene': 'C1orf52', 'score': 10.83}, {'connected_gene': 'GC01M086135', 'score': 0.44}]
chr1 GH01I086282 86282817 86282888 0.22 [{'connected_gene': 'COL24A1', 'score': 10.53}, {'connected_gene': 'ODF2L', 'score': 1.5}, {'connected_gene': 'LOC105378824', 'score': 0.28}, {'connected_gene': 'GC01P086180', 'score': 0.15}]
chr1 GH01I085459 85459392 85466468 2.18 [{'connected_gene': 'DDAH1', 'score': 579.73}, {'connected_gene': 'ODF2L', 'score': 11.47}, {'connected_gene': 'CYR61', 'score': 10.18}, {'connected_gene': 'ENSG00000273264', 'score': 0.77}, {'connected_gene': 'GC01M085455', 'score': 0.44}]
chr1 GH01I085575 85575118 85586483 2.55 [{'connected_gene': 'DDAH1', 'score': 550.77}, {'connected_gene': 'CYR61', 'score': 550.77}, {'connected_gene': 'ODF2L', 'score': 27.9}, {'connected_gene': 'ZNHIT6', 'score': 24.68}, {'connected_gene': 'C1orf52', 'score': 11.52}, {'connected_gene': 'BCL10', 'score': 9.8}, {'connected_gene': 'ENSG00000282057', 'score': 0.77}, {'connected_gene': 'ENSG00000272691', 'score': 0.77}, {'connected_gene': 'GC01P085583', 'score': 0.77}]
chr1 GH01I087061 87061526 87063274 0.57 [{'connected_gene': 'LOC105378828', 'score': 11.98}, {'connected_gene': 'ODF2L', 'score': 10.01}, {'connected_gene': 'GC01P087079', 'score': 0.37}, {'connected_gene': 'LOC100421465', 'score': 0.37}, {'connected_gene': 'ENSG00000267561', 'score': 0.2}, {'connected_gene': 'HS2ST1', 'score': 0.11}]
chr1 GH01I086365 86365801 86366200 0.31 [{'connected_gene': 'MIR7856', 'score': 0.44}, {'connected_gene': 'GC01P086383', 'score': 0.37}, {'connected_gene': 'ODF2L', 'score': 0.29}]
chr1 GH01I086382 86382801 86383600 0.2 [{'connected_gene': 'GC01P086383', 'score': 550.77}, {'connected_gene': 'CLCA2', 'score': 22.84}, {'connected_gene': 'ODF2L', 'score': 22.72}, {'connected_gene': 'MIR7856', 'score': 0.31}]
chr1 GH01I086419 86419401 86419800 0.56 [{'connected_gene': 'GC01M086406', 'score': 550.77}, {'connected_gene': 'ODF2L', 'score': 14.62}, {'connected_gene': 'CLCA2', 'score': 0.77}]

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