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
ENST00000533423 [[105946227, 105946303], [105950193, 105950419], [105961283, 105961405], [105962042, 105962186]] [[105950205, 105950419], [105961283, 105961405], [105962042, 105962186]]
ENST00000524411 [[105946968, 105947015], [105950193, 105950419], [105961283, 105961405], [105962042, 105962204], [105965309, 105965381]] [[105950205, 105950419], [105961283, 105961405], [105962042, 105962204], [105965309, 105965381]]
ENST00000278618 [[105948215, 105948620], [105950193, 105950419], [105961283, 105961405], [105962042, 105962204], [105965309, 105965381], [105967469, 105969437]] [[105948437, 105948620], [105950193, 105950419], [105961283, 105961405], [105962042, 105962204], [105965309, 105965381], [105967469, 105967634]]
ENST00000525660 [[105948384, 105948620], [105950193, 105950419], [105962042, 105962204], [105965309, 105965381], [105967469, 105968025]] [[105948437, 105948620], [105950193, 105950419], [105962042, 105962050]]
ENST00000534152 [[105962193, 105965381], [105967469, 105969426]] None
NM_015423 [[105948291, 105948620], [105950193, 105950419], [105961283, 105961405], [105962042, 105962204], [105965309, 105965381], [105967469, 105969419]] [[105948437, 105948620], [105950193, 105950419], [105961283, 105961405], [105962042, 105962204], [105965309, 105965381], [105967469, 105967634]]
Promoter
Chrom Start End Description
chr11 105948366 105948416 CAGE_peak_1_at_AASDHPPT_5end
chr11 105948420 105948438 CAGE_peak_2_at_AASDHPPT_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I106030 106030993 106032243 0.52 [{'connected_gene': 'MSANTD4', 'score': 0.44}, {'connected_gene': 'AASDHPPT', 'score': 0.26}]
chr11 GH11I106090 106090887 106092440 0.57 [{'connected_gene': 'LOC643855', 'score': 9.76}, {'connected_gene': 'KBTBD3', 'score': 0.39}, {'connected_gene': 'ENSG00000254433', 'score': 0.39}, {'connected_gene': 'AASDHPPT', 'score': 0.37}]
chr11 GH11I106087 106087934 106088083 0.63 [{'connected_gene': 'AASDHPPT', 'score': 0.39}, {'connected_gene': 'KBTBD3', 'score': 0.39}, {'connected_gene': 'ENSG00000254433', 'score': 0.39}]
chr11 GH11I106088 106088450 106088916 0.31 [{'connected_gene': 'AASDHPPT', 'score': 0.39}, {'connected_gene': 'KBTBD3', 'score': 0.39}, {'connected_gene': 'ENSG00000254433', 'score': 0.39}]
chr11 GH11I105609 105609674 105612903 1.57 [{'connected_gene': 'GRIA4', 'score': 550.77}, {'connected_gene': 'AASDHPPT', 'score': 4.73}, {'connected_gene': 'HSPD1P13', 'score': 0.15}]
chr11 GH11I105803 105803842 105804259 0.27 [{'connected_gene': 'GRIA4', 'score': 5.24}, {'connected_gene': 'KBTBD3', 'score': 3.17}, {'connected_gene': 'MSANTD4', 'score': 2.0}, {'connected_gene': 'AASDHPPT', 'score': 1.11}, {'connected_gene': 'RNU4-55P', 'score': 0.34}, {'connected_gene': 'HSPD1P13', 'score': 0.15}]
chr11 GH11I106075 106075839 106079068 2.04 [{'connected_gene': 'KBTBD3', 'score': 556.49}, {'connected_gene': 'AASDHPPT', 'score': 550.77}, {'connected_gene': 'LOC105369473', 'score': 8.54}, {'connected_gene': 'MSANTD4', 'score': 6.38}]

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