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
ENST00000343307 [[31774072, 31774291], [31789187, 31789237], [31797088, 31797128], [31803321, 31803431], [31821159, 31821236], [31821991, 31822103], [31835082, 31835219], [31843350, 31843414], [31848645, 31848765], [31850838, 31850908], [31858784, 31858898], [31860856, 31860956], [31891702, 31891822], [31897887, 31898032], [31903637, 31906413]] [[31774221, 31774291], [31789187, 31789237], [31797088, 31797128], [31803321, 31803431], [31821159, 31821236], [31821991, 31822103], [31835082, 31835219], [31843350, 31843414], [31848645, 31848765], [31850838, 31850908], [31858784, 31858898], [31860856, 31860956], [31891702, 31891822], [31897887, 31898032], [31903637, 31903805]]
ENST00000461652 [[31834543, 31834617], [31835082, 31835219], [31843350, 31843414], [31848645, 31848765], [31850838, 31850908], [31857205, 31857443], [31858784, 31858892]] None
NM_194318 [[31774111, 31774291], [31789187, 31789237], [31797088, 31797128], [31803321, 31803431], [31821159, 31821236], [31821991, 31822103], [31835082, 31835219], [31843350, 31843414], [31848645, 31848765], [31850838, 31850908], [31858784, 31858898], [31860856, 31860956], [31891702, 31891822], [31897887, 31898032], [31903637, 31906413]] [[31774221, 31774291], [31789187, 31789237], [31797088, 31797128], [31803321, 31803431], [31821159, 31821236], [31821991, 31822103], [31835082, 31835219], [31843350, 31843414], [31848645, 31848765], [31850838, 31850908], [31858784, 31858898], [31860856, 31860956], [31891702, 31891822], [31897887, 31898032], [31903637, 31903805]]
Promoter
Chrom Start End Description
chr13 31774096 31774153 CAGE_peak_1_at_B3GALTL_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I031207 31207644 31210685 1.29 [{'connected_gene': 'B3GLCT', 'score': 16.44}, {'connected_gene': 'HSPH1', 'score': 11.19}, {'connected_gene': 'TEX26', 'score': 1.48}, {'connected_gene': 'GC13P031280', 'score': 0.19}]
chr13 GH13I031171 31171429 31173586 0.96 [{'connected_gene': 'B3GLCT', 'score': 20.98}, {'connected_gene': 'HSPH1', 'score': 8.0}, {'connected_gene': 'LOC105370148', 'score': 0.44}]
chr13 GH13I031197 31197944 31198093 0.2 [{'connected_gene': 'B3GLCT', 'score': 550.77}, {'connected_gene': 'HSPH1', 'score': 0.29}]
chr13 GH13I031196 31196707 31197792 0.2 [{'connected_gene': 'B3GLCT', 'score': 8.9}, {'connected_gene': 'HSPH1', 'score': 0.29}]
chr13 GH13I031199 31199342 31201779 2.16 [{'connected_gene': 'B3GLCT', 'score': 563.18}, {'connected_gene': 'HSPH1', 'score': 13.28}, {'connected_gene': 'GC13P031280', 'score': 0.18}]
chr13 GH13I031225 31225727 31226822 0.2 [{'connected_gene': 'B3GLCT', 'score': 14.69}, {'connected_gene': 'HSPH1', 'score': 11.06}, {'connected_gene': 'GC13P031280', 'score': 0.23}]
chr13 GH13I031214 31214000 31214201 0.38 [{'connected_gene': 'B3GLCT', 'score': 15.02}, {'connected_gene': 'GC13P031280', 'score': 0.2}]
chr13 GH13I031135 31135481 31136512 0.2 [{'connected_gene': 'HSPH1', 'score': 10.68}, {'connected_gene': 'B3GLCT', 'score': 8.3}, {'connected_gene': 'LOC105370148', 'score': 0.31}, {'connected_gene': 'WDR95P', 'score': 0.19}]
chr13 GH13I031149 31149401 31151998 0.49 [{'connected_gene': 'HSPH1', 'score': 7.95}, {'connected_gene': 'B3GLCT', 'score': 5.82}, {'connected_gene': 'LOC105370148', 'score': 0.39}, {'connected_gene': 'WDR95P', 'score': 0.17}]
chr13 GH13I031129 31129763 31135384 0.49 [{'connected_gene': 'HSPH1', 'score': 11.07}, {'connected_gene': 'B3GLCT', 'score': 8.77}, {'connected_gene': 'FRY', 'score': 5.16}, {'connected_gene': 'LOC105370148', 'score': 0.29}, {'connected_gene': 'WDR95P', 'score': 0.2}]
chr13 GH13I031204 31204600 31204913 1.02 [{'connected_gene': 'HSPH1', 'score': 11.2}, {'connected_gene': 'B3GLCT', 'score': 0.77}, {'connected_gene': 'GC13P031280', 'score': 0.18}]
chr13 GH13I031159 31159705 31163743 2.26 [{'connected_gene': 'HSPH1', 'score': 558.33}, {'connected_gene': 'LOC105370148', 'score': 550.77}, {'connected_gene': 'B3GLCT', 'score': 9.75}, {'connected_gene': 'WDR95P', 'score': 0.15}]