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
ENST00000371833 [[49193194, 49193715], [49201910, 49202124], [49208294, 49208443], [49224571, 49224956], [49227008, 49227142], [49242277, 49242590]] [[49193557, 49193715], [49201910, 49202124], [49208294, 49208443], [49224571, 49224956], [49227008, 49227142], [49242277, 49242503]]
ENST00000476079 [[49193538, 49193715], [49201910, 49202124], [49224571, 49224605]] None
ENST00000463562 [[49193541, 49193715], [49201910, 49202124], [49208294, 49208443], [49224571, 49225038], [49227008, 49227142], [49242277, 49242604]] None
ENST00000476096 [[49193544, 49193715], [49224571, 49224927]] None
ENST00000480399 [[49224878, 49225038], [49242277, 49242641]] None
ENST00000489956 [[49226719, 49227142], [49242277, 49242407]] None
NM_001302082 [[49193194, 49193715], [49201910, 49202124], [49208294, 49208443], [49224571, 49225038], [49227008, 49227142], [49242277, 49242641]] [[49193557, 49193715], [49201910, 49202124], [49208294, 49208443], [49224571, 49224809]]
NM_024603 [[49193194, 49193715], [49201910, 49202124], [49208294, 49208443], [49224571, 49224956], [49227008, 49227142], [49242277, 49242641]] [[49193557, 49193715], [49201910, 49202124], [49208294, 49208443], [49224571, 49224956], [49227008, 49227142], [49242277, 49242503]]
Promoter
Chrom Start End Description
chr1 49242393 49242451 CAGE_peak_1_at_BEND5_5end
chr1 49242462 49242482 CAGE_peak_4_at_BEND5_5end
chr1 49242483 49242521 CAGE_peak_2_at_BEND5_5end
chr1 49242553 49242573 CAGE_peak_5_at_BEND5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I048572 48572610 48572930 0.89 [{'connected_gene': 'BEND5', 'score': 3.32}, {'connected_gene': 'SPATA6', 'score': 1.48}, {'connected_gene': 'GC01M048581', 'score': 0.39}, {'connected_gene': 'GC01P048499', 'score': 0.19}]
chr1 GH01I049052 49052361 49052372 0.44 [{'connected_gene': 'BEND5', 'score': 1.4}, {'connected_gene': 'LOC105378706', 'score': 0.31}, {'connected_gene': 'GC01P049018', 'score': 0.29}, {'connected_gene': 'GC01M049179', 'score': 0.12}, {'connected_gene': 'AGBL4', 'score': 0.02}]
chr1 GH01I048775 48775591 48777963 1.9 [{'connected_gene': 'BEND5', 'score': 556.53}, {'connected_gene': 'GC01M048775', 'score': 0.31}, {'connected_gene': 'GC01P048747', 'score': 0.31}]
chr1 GH01I048710 48710075 48711036 0.43 [{'connected_gene': 'BEND5', 'score': 10.78}, {'connected_gene': 'PIR57047', 'score': 0.39}, {'connected_gene': 'GC01M048699', 'score': 0.39}, {'connected_gene': 'GC01P048747', 'score': 0.28}]
chr1 GH01I048767 48767569 48768972 0.69 [{'connected_gene': 'BEND5', 'score': 5.82}, {'connected_gene': 'GC01P048747', 'score': 0.34}]
chr1 GH01I048784 48784979 48785150 0.38 [{'connected_gene': 'BEND5', 'score': 0.44}, {'connected_gene': 'GC01M048775', 'score': 0.37}]
chr1 GH01I048772 48772008 48772707 0.51 [{'connected_gene': 'BEND5', 'score': 0.77}, {'connected_gene': 'GC01P048747', 'score': 0.31}]
chr1 GH01I048851 48851905 48852041 0.37 [{'connected_gene': 'SPATA6', 'score': 2.27}, {'connected_gene': 'BEND5', 'score': 1.43}, {'connected_gene': 'GC01P048862', 'score': 0.39}, {'connected_gene': 'GC01P048826', 'score': 0.31}]
chr1 GH01I048931 48931401 48932306 1.04 [{'connected_gene': 'SLC5A9', 'score': 4.12}, {'connected_gene': 'BEND5', 'score': 1.3}, {'connected_gene': 'GC01M048924', 'score': 0.26}, {'connected_gene': 'GC01P048862', 'score': 0.2}]
chr1 GH01I048761 48761529 48761678 0.51 [{'connected_gene': 'GC01P048747', 'score': 0.39}, {'connected_gene': 'BEND5', 'score': 0.37}]
chr1 GH01I048793 48793361 48794660 0.77 [{'connected_gene': 'GC01M048775', 'score': 0.44}, {'connected_gene': 'BEND5', 'score': 0.37}]
chr1 GH01I048760 48760929 48761078 0.4 [{'connected_gene': 'GC01P048747', 'score': 0.39}, {'connected_gene': 'BEND5', 'score': 0.37}]

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