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
ENST00000380448 [[5237425, 5237538], [5238191, 5238283], [5238782, 5238914], [5242143, 5242311], [5246339, 5246456], [5247719, 5247797], [5248237, 5248360], [5254578, 5254688], [5254956, 5255122], [5258673, 5258756], [5260680, 5260912]] [[5238830, 5238914], [5242143, 5242311], [5246339, 5246456], [5247719, 5247797], [5248237, 5248360], [5254578, 5254688], [5254956, 5255122], [5258673, 5258756], [5260680, 5260723]]
ENST00000263126 [[5238797, 5238914], [5242143, 5242311], [5246339, 5246456], [5247719, 5247797], [5248237, 5248360], [5254578, 5254688], [5254956, 5255122], [5258673, 5258756], [5260680, 5260912]] [[5238830, 5238914], [5242143, 5242311], [5246339, 5246456], [5247719, 5247797], [5248237, 5248360], [5254578, 5254688], [5254956, 5255122], [5258673, 5258756], [5260680, 5260723]]
ENST00000469875 [[5237424, 5237538], [5238191, 5238885]] None
NM_001818 [[5238797, 5238914], [5242143, 5242311], [5246339, 5246456], [5247719, 5247797], [5248237, 5248360], [5254578, 5254688], [5254956, 5255122], [5258673, 5258756], [5260680, 5260910]] [[5238830, 5238914], [5242143, 5242311], [5246339, 5246456], [5247719, 5247797], [5248237, 5248360], [5254578, 5254688], [5254956, 5255122], [5258673, 5258756], [5260680, 5260723]]
Promoter
Chrom Start End Description
chr10 5238793 5238807 CAGE_peak_1_at_AKR1C4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I005146 5146647 5149180 0.96 [{'connected_gene': 'AKR1C8P', 'score': 18.09}, {'connected_gene': 'AKR1C4', 'score': 12.25}, {'connected_gene': 'ARL4AP3', 'score': 12.02}, {'connected_gene': 'UCN3', 'score': 10.11}, {'connected_gene': 'AKR1C3', 'score': 5.37}, {'connected_gene': 'AKR1C5P', 'score': 4.99}, {'connected_gene': 'GC10P005044', 'score': 0.15}]
chr10 GH10I005272 5272476 5272588 0.45 [{'connected_gene': 'LINC02561', 'score': 550.77}, {'connected_gene': 'AKR1C4', 'score': 12.09}, {'connected_gene': 'UCN3', 'score': 11.26}, {'connected_gene': 'AKR1C7P', 'score': 0.37}]
chr10 GH10I005195 5195508 5197578 1.3 [{'connected_gene': 'GC10M005190', 'score': 550.77}, {'connected_gene': 'AKR1C4', 'score': 550.77}, {'connected_gene': 'TUBAL3', 'score': 5.91}, {'connected_gene': 'RBM17', 'score': 5.86}, {'connected_gene': 'AKR1C3', 'score': 4.72}, {'connected_gene': 'ARL4AP3', 'score': 0.39}]

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