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
ENST00000256545 [[34376217, 34376687], [34380253, 34380334], [34382517, 34382656], [34388095, 34388215], [34393804, 34394149]] [[34376534, 34376687], [34380253, 34380334], [34382517, 34382656], [34388095, 34388215], [34393804, 34394040]]
ENST00000527822 [[34376530, 34376687], [34380253, 34380334], [34382517, 34382656], [34393804, 34394008]] [[34376534, 34376687], [34380253, 34380334], [34382517, 34382656], [34393804, 34394008]]
ENST00000528949 [[34376564, 34376687], [34380253, 34380334], [34382517, 34382656], [34388095, 34388215], [34393965, 34394008]] [[34376564, 34376687], [34380253, 34380334], [34382517, 34382656], [34388095, 34388215], [34393965, 34393982]]
ENST00000532113 [[34392834, 34393217], [34393804, 34394028]] None
NM_020154 [[34376222, 34376687], [34380253, 34380334], [34382517, 34382656], [34388095, 34388215], [34393804, 34394053]] [[34376534, 34376687], [34380253, 34380334], [34382517, 34382656], [34388095, 34388215], [34393804, 34394040]]
Promoter
Chrom Start End Description
chr15 34394040 34394088 CAGE_peak_1_at_C15orf24_5end
chr15 34394119 34394130 CAGE_peak_2_at_C15orf24_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I034121 34121501 34125898 0.87 [{'connected_gene': 'PGBD4', 'score': 12.37}, {'connected_gene': 'EMC7', 'score': 12.37}, {'connected_gene': 'KATNBL1', 'score': 11.64}, {'connected_gene': 'NOP10', 'score': 5.34}, {'connected_gene': 'SLC12A6', 'score': 4.87}, {'connected_gene': 'GOLGA8B', 'score': 4.83}, {'connected_gene': 'PIR44117', 'score': 0.37}]
chr15 GH15I034100 34100408 34103037 2.05 [{'connected_gene': 'PGBD4', 'score': 557.14}, {'connected_gene': 'EMC7', 'score': 550.77}, {'connected_gene': 'AVEN', 'score': 20.26}, {'connected_gene': 'KATNBL1', 'score': 11.05}, {'connected_gene': 'HNRNPLP2', 'score': 11.04}, {'connected_gene': 'EMC4', 'score': 10.73}, {'connected_gene': 'RPL32P2', 'score': 0.37}]

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