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
ENST00000380184 [[5535622, 5537935]] [[5536243, 5537671]]
NM_145053 [[5535622, 5537956]] [[5536243, 5537671]]
Promoter
Chrom Start End Description
chr11 5537900 5537907 CAGE_peak_2_at_UBQLNL_5end
chr11 5537920 5537934 CAGE_peak_1_at_UBQLNL_5end
chr11 5537937 5537942 CAGE_peak_3_at_UBQLNL_5end
chr11 5537955 5537956 CAGE_peak_4_at_UBQLNL_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I005618 5618431 5622267 1.66 [{'connected_gene': 'TRIM34', 'score': 550.77}, {'connected_gene': 'TRIM5', 'score': 17.44}, {'connected_gene': 'UBQLNL', 'score': 14.83}, {'connected_gene': 'ENSG00000239920', 'score': 14.0}, {'connected_gene': 'HBG2', 'score': 11.91}, {'connected_gene': 'TRIM6', 'score': 11.54}, {'connected_gene': 'TRIM22', 'score': 10.99}, {'connected_gene': 'TRIM6-TRIM34', 'score': 0.34}, {'connected_gene': 'GC11P005579', 'score': 0.26}]
chr11 GH11I005504 5504048 5506260 0.9 [{'connected_gene': 'HBE1', 'score': 550.77}, {'connected_gene': 'OR51B5', 'score': 550.77}, {'connected_gene': 'ENSG00000167355', 'score': 550.77}, {'connected_gene': 'FAM160A2', 'score': 22.96}, {'connected_gene': 'DNHD1', 'score': 13.29}, {'connected_gene': 'TRIM34', 'score': 10.03}, {'connected_gene': 'UBQLNL', 'score': 6.05}, {'connected_gene': 'OR52D1', 'score': 0.37}, {'connected_gene': 'HBG2', 'score': 0.11}]
chr11 GH11I005518 5518475 5518605 0.38 [{'connected_gene': 'UBQLNL', 'score': 611.81}, {'connected_gene': 'UBQLN3', 'score': 57.06}, {'connected_gene': 'OLFM5P', 'score': 0.44}, {'connected_gene': 'HBG2', 'score': 0.13}]
chr11 GH11I005516 5516689 5516748 0.5 [{'connected_gene': 'UBQLNL', 'score': 550.77}, {'connected_gene': 'UBQLN3', 'score': 0.44}, {'connected_gene': 'OLFM5P', 'score': 0.44}, {'connected_gene': 'HBG2', 'score': 0.13}]