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
ENST00000553456 [[119301954, 119303184], [119305142, 119305327], [119307575, 119309056]] [[119302778, 119303184], [119305142, 119305327], [119307575, 119307743]]
ENST00000442245 [[119302508, 119303184], [119307575, 119308412]] [[119302778, 119303184], [119307575, 119307679]]
ENST00000546446 [[119304376, 119304741], [119305142, 119305327], [119307575, 119308365]] None
NM_001165924 [[119301955, 119303184], [119307575, 119309057]] [[119302778, 119303184], [119307575, 119307679]]
NM_004098 [[119301955, 119303184], [119305142, 119305327], [119307575, 119309057]] [[119302778, 119303184], [119305142, 119305327], [119307575, 119307743]]
Promoter
Chrom Start End Description
chr10 119301928 119301955 CAGE_peak_7_at_EMX2_5end
chr10 119302150 119302163 CAGE_peak_8_at_EMX2_5end
chr10 119302182 119302196 CAGE_peak_6_at_EMX2_5end
chr10 119302232 119302265 CAGE_peak_1_at_EMX2_5end
chr10 119302268 119302282 CAGE_peak_4_at_EMX2_5end
chr10 119302352 119302362 CAGE_peak_9_at_EMX2_5end
chr10 119302508 119302559 CAGE_peak_5_at_EMX2_5end
chr10 119302645 119302712 CAGE_peak_3_at_EMX2_5end
chr10 119303078 119303169 CAGE_peak_2_at_EMX2_5end
chr10 119307515 119307518 CAGE_peak_23_at_EMX2_5end
chr10 119307702 119307723 CAGE_peak_10_at_EMX2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I117496 117496630 117496879 1.06 [{'connected_gene': 'KCNK18', 'score': 2.08}, {'connected_gene': 'EMX2', 'score': 1.93}, {'connected_gene': 'SHTN1', 'score': 1.53}, {'connected_gene': 'GC10P117520', 'score': 0.34}, {'connected_gene': 'EMX2OS', 'score': 0.25}, {'connected_gene': 'LOC105378502', 'score': 0.19}]
chr10 GH10I117551 117551994 117553619 0.95 [{'connected_gene': 'EMX2', 'score': 27.36}, {'connected_gene': 'RAB11FIP2', 'score': 4.03}, {'connected_gene': 'EMX2OS', 'score': 0.44}, {'connected_gene': 'ENSG00000235198', 'score': 0.37}]
chr10 GH10I117541 117541048 117546692 1.89 [{'connected_gene': 'EMX2', 'score': 563.75}, {'connected_gene': 'EMX2OS', 'score': 550.77}, {'connected_gene': 'ENSG00000231104', 'score': 10.15}, {'connected_gene': 'VAX1', 'score': 1.43}]
chr10 GH10I117535 117535309 117535471 0.68 [{'connected_gene': 'EMX2', 'score': 12.26}, {'connected_gene': 'EMX2OS', 'score': 0.44}, {'connected_gene': 'GC10P117520', 'score': 0.37}]
chr10 GH10I117537 117537690 117537839 0.83 [{'connected_gene': 'EMX2', 'score': 0.77}, {'connected_gene': 'EMX2OS', 'score': 0.44}, {'connected_gene': 'GC10P117520', 'score': 0.37}]
chr10 GH10I117547 117547590 117547739 0.63 [{'connected_gene': 'ENSG00000235198', 'score': 11.41}, {'connected_gene': 'EMX2OS', 'score': 0.77}, {'connected_gene': 'EMX2', 'score': 0.44}]