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
ENST00000259154 [[215740734, 215741111], [215747128, 215747182], [215747415, 215747461], [215749243, 215749317], [215751012, 215751071], [215751343, 215751424], [215752342, 215752480], [215753251, 215753342], [215759837, 215760028], [215768697, 215768813], [215775208, 215775296], [215775426, 215775543], [215777473, 215777644], [215781358, 215781514], [215785166, 215785263], [215792227, 215792412], [215792494, 215792633], [215793398, 215795149]] [[215741028, 215741111], [215747128, 215747182], [215747415, 215747461], [215749243, 215749317], [215751012, 215751071], [215751343, 215751424], [215752342, 215752480], [215753251, 215753342], [215759837, 215760028], [215768697, 215768813], [215775208, 215775296], [215775426, 215775543], [215777473, 215777644], [215781358, 215781514], [215785166, 215785263], [215792227, 215792412], [215792494, 215792633], [215793398, 215793960]]
ENST00000448333 [[215747128, 215747182], [215747415, 215747461], [215749243, 215749317], [215751012, 215751071], [215751343, 215751424], [215752342, 215752480], [215753251, 215753342], [215754314, 215754522]] [[215747128, 215747182], [215747415, 215747461], [215749243, 215749317], [215751012, 215751071], [215751343, 215751424], [215752342, 215752480], [215753251, 215753342], [215754314, 215754411]]
ENST00000452413 [[215775511, 215775543], [215777473, 215777644], [215781358, 215781514], [215785166, 215785263], [215791429, 215791496], [215792227, 215792293]] [[215775511, 215775543], [215777473, 215777644], [215781358, 215781514], [215785166, 215785263], [215791429, 215791478]]
ENST00000495537 [[215791586, 215792633], [215793398, 215795073]] None
ENST00000465650 [[215792046, 215792412], [215792494, 215792633], [215793398, 215793545]] None
NM_001319294 [[215740721, 215741111], [215747128, 215747182], [215747415, 215747461], [215749243, 215749317], [215751012, 215751071], [215751343, 215751424], [215752342, 215752480], [215753251, 215753342], [215759837, 215760028], [215768697, 215768813], [215775208, 215775296], [215775426, 215775543], [215777473, 215777644], [215781358, 215781514], [215785166, 215785263], [215792227, 215792412], [215792500, 215792633], [215793398, 215795163]] [[215741028, 215741111], [215747128, 215747182], [215747415, 215747461], [215749243, 215749317], [215751012, 215751071], [215751343, 215751424], [215752342, 215752480], [215753251, 215753342], [215759837, 215760028], [215768697, 215768813], [215775208, 215775296], [215775426, 215775543], [215777473, 215777644], [215781358, 215781514], [215785166, 215785263], [215792227, 215792412], [215792500, 215792633], [215793398, 215793960]]
NM_016121 [[215740721, 215741111], [215747128, 215747182], [215747415, 215747461], [215749243, 215749317], [215751012, 215751071], [215751343, 215751424], [215752342, 215752480], [215753251, 215753342], [215759837, 215760028], [215768697, 215768813], [215775208, 215775296], [215775426, 215775543], [215777473, 215777644], [215781358, 215781514], [215785166, 215785263], [215792227, 215792412], [215792494, 215792633], [215793398, 215795163]] [[215741028, 215741111], [215747128, 215747182], [215747415, 215747461], [215749243, 215749317], [215751012, 215751071], [215751343, 215751424], [215752342, 215752480], [215753251, 215753342], [215759837, 215760028], [215768697, 215768813], [215775208, 215775296], [215775426, 215775543], [215777473, 215777644], [215781358, 215781514], [215785166, 215785263], [215792227, 215792412], [215792494, 215792633], [215793398, 215793960]]
NM_001319295 [[215740721, 215741111], [215747128, 215747182], [215747415, 215747461], [215749243, 215749317], [215751012, 215751071], [215751271, 215751424], [215752342, 215752480], [215753251, 215753342], [215759837, 215760028], [215768697, 215768813], [215775208, 215775296], [215775426, 215775543], [215777473, 215777644], [215781358, 215781514], [215785166, 215785263], [215792227, 215792412], [215792500, 215792633], [215793398, 215795163]] [[215751333, 215751424], [215752342, 215752480], [215753251, 215753342], [215759837, 215760028], [215768697, 215768813], [215775208, 215775296], [215775426, 215775543], [215777473, 215777644], [215781358, 215781514], [215785166, 215785263], [215792227, 215792412], [215792500, 215792633], [215793398, 215793960]]
Promoter
Chrom Start End Description
chr1 215740622 215740664 CAGE_peak_2_at_KCTD3_5end
chr1 215740696 215740699 CAGE_peak_4_at_KCTD3_5end
chr1 215740709 215740748 CAGE_peak_1_at_KCTD3_5end
chr1 215740903 215740975 CAGE_peak_3_at_KCTD3_5end
chr1 215747118 215747138 CAGE_peak_5_at_KCTD3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I215273 215273458 215275004 0.52 [{'connected_gene': 'KCTD3', 'score': 6.3}, {'connected_gene': 'GC01P215194', 'score': 0.18}, {'connected_gene': 'VDAC1P10', 'score': 0.15}]
chr1 GH01I215565 215565719 215572672 2.31 [{'connected_gene': 'KCTD3', 'score': 552.45}, {'connected_gene': 'LOC105372919', 'score': 550.77}, {'connected_gene': 'GC01M215567', 'score': 550.77}, {'connected_gene': 'ENSG00000202498', 'score': 0.21}, {'connected_gene': 'GC01M215631', 'score': 0.21}]
chr1 GH01I215599 215599600 215599800 0.31 [{'connected_gene': 'KCTD3', 'score': 11.65}, {'connected_gene': 'GC01M215567', 'score': 0.29}, {'connected_gene': 'ENSG00000202498', 'score': 0.29}, {'connected_gene': 'GC01M215631', 'score': 0.29}]
chr1 GH01I215402 215402465 215403022 0.31 [{'connected_gene': 'KCTD3', 'score': 5.72}, {'connected_gene': 'ENSG00000282265', 'score': 0.44}]
chr1 GH01I215484 215484478 215484627 0.38 [{'connected_gene': 'KCTD3', 'score': 0.18}, {'connected_gene': 'ENSG00000282265', 'score': 0.16}]
chr1 GH01I215474 215474583 215477223 0.74 [{'connected_gene': 'KCTD3', 'score': 6.25}, {'connected_gene': 'ENSG00000282265', 'score': 0.18}]
chr1 GH01I215557 215557353 215558666 0.65 [{'connected_gene': 'KCTD3', 'score': 0.44}, {'connected_gene': 'ENSG00000282265', 'score': 0.1}]
chr1 GH01I215542 215542501 215543893 0.82 [{'connected_gene': 'KCTD3', 'score': 11.45}, {'connected_gene': 'ENSG00000282265', 'score': 0.11}]
chr1 GH01I215523 215523004 215524418 0.49 [{'connected_gene': 'KCTD3', 'score': 11.08}, {'connected_gene': 'ENSG00000282265', 'score': 0.13}]
chr1 GH01I215490 215490078 215490227 0.62 [{'connected_gene': 'KCTD3', 'score': 0.18}, {'connected_gene': 'ENSG00000282265', 'score': 0.15}]
chr1 GH01I215516 215516958 215518096 0.71 [{'connected_gene': 'KCTD3', 'score': 0.25}, {'connected_gene': 'ENSG00000282265', 'score': 0.13}]
chr1 GH01I215582 215582267 215584268 1.1 [{'connected_gene': 'GC01M215567', 'score': 0.37}, {'connected_gene': 'KCTD3', 'score': 0.37}, {'connected_gene': 'ENSG00000202498', 'score': 0.25}, {'connected_gene': 'GC01M215631', 'score': 0.25}]
chr1 GH01I215475 215474118 215474267 0.49 [{'connected_gene': 'ENSG00000282265', 'score': 0.18}, {'connected_gene': 'KCTD3', 'score': 0.16}]

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