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
ENST00000368599 [[116832808, 116833399], [116836762, 116845955]] [[116832859, 116833399], [116836762, 116837152]]
Promoter
Chrom Start End Description
chr6 116832767 116832787 CAGE_peak_3_at_FAM26E_5end
chr6 116832789 116832811 CAGE_peak_2_at_FAM26E_5end
chr6 116832823 116832853 CAGE_peak_1_at_FAM26E_5end
chr6 116833158 116833185 CAGE_peak_4_at_FAM26E_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I116475 116475001 116476834 1 [{'connected_gene': 'CALHM6', 'score': 14.96}, {'connected_gene': 'DSE', 'score': 10.91}, {'connected_gene': 'CALHM5', 'score': 7.32}, {'connected_gene': 'ENSG00000244158', 'score': 0.39}, {'connected_gene': 'ENSG00000234117', 'score': 0.37}]
chr6 GH06I116396 116396707 116399776 1.06 [{'connected_gene': 'CALHM6', 'score': 17.88}, {'connected_gene': 'CALHM4', 'score': 11.7}, {'connected_gene': 'CBX3P9', 'score': 11.62}, {'connected_gene': 'KRT18P22', 'score': 11.61}, {'connected_gene': 'ENSG00000244158', 'score': 11.61}, {'connected_gene': 'ENSG00000234117', 'score': 10.36}, {'connected_gene': 'TRAPPC3L', 'score': 10.22}, {'connected_gene': 'DSE', 'score': 7.2}, {'connected_gene': 'CALHM5', 'score': 4.19}, {'connected_gene': 'PIR33476', 'score': 0.29}, {'connected_gene': 'PIR34878', 'score': 0.28}]
chr6 GH06I116501 116501201 116501400 0.97 [{'connected_gene': 'RSPH4A', 'score': 14.54}, {'connected_gene': 'CALHM6', 'score': 13.38}, {'connected_gene': 'CALHM4', 'score': 10.69}, {'connected_gene': 'ENSG00000234117', 'score': 0.44}, {'connected_gene': 'CALHM5', 'score': 0.39}, {'connected_gene': 'TRAPPC3L', 'score': 0.26}]
chr6 GH06I116555 116555578 116559225 0.99 [{'connected_gene': 'RSPH4A', 'score': 25.88}, {'connected_gene': 'KPNA5', 'score': 20.55}, {'connected_gene': 'CALHM6', 'score': 19.4}, {'connected_gene': 'CALHM4', 'score': 11.5}, {'connected_gene': 'ENSG00000244158', 'score': 10.28}, {'connected_gene': 'KRT18P22', 'score': 10.28}, {'connected_gene': 'CBX3P9', 'score': 10.27}, {'connected_gene': 'ENSG00000234117', 'score': 9.76}, {'connected_gene': 'CALHM5', 'score': 9.21}, {'connected_gene': 'TRAPPC3L', 'score': 8.04}, {'connected_gene': 'RWDD1', 'score': 0.39}]
chr6 GH06I116384 116384602 116394310 1.61 [{'connected_gene': 'DSE', 'score': 27.88}, {'connected_gene': 'CALHM6', 'score': 24.21}, {'connected_gene': 'CALHM4', 'score': 11.7}, {'connected_gene': 'CBX3P9', 'score': 11.66}, {'connected_gene': 'KRT18P22', 'score': 11.65}, {'connected_gene': 'ENSG00000244158', 'score': 11.64}, {'connected_gene': 'ENSG00000234117', 'score': 11.05}, {'connected_gene': 'TRAPPC3L', 'score': 10.92}, {'connected_gene': 'ENSG00000240050', 'score': 6.28}, {'connected_gene': 'TSPYL1', 'score': 5.83}, {'connected_gene': 'CALHM5', 'score': 4.03}, {'connected_gene': 'ZUFSP', 'score': 2.59}, {'connected_gene': 'PIR33476', 'score': 0.34}, {'connected_gene': 'PIR34878', 'score': 0.25}]
chr6 GH06I116564 116564801 116565600 0.31 [{'connected_gene': 'CALHM5', 'score': 11.7}, {'connected_gene': 'RSPH4A', 'score': 11.58}, {'connected_gene': 'CALHM4', 'score': 11.29}, {'connected_gene': 'ENSG00000234117', 'score': 10.46}, {'connected_gene': 'RWDD1', 'score': 0.44}, {'connected_gene': 'TRAPPC3L', 'score': 0.37}]
chr6 GH06I116510 116510958 116513533 1.87 [{'connected_gene': 'CALHM5', 'score': 563.08}, {'connected_gene': 'TRAPPC3L', 'score': 10.59}, {'connected_gene': 'CALHM6', 'score': 8.81}, {'connected_gene': 'RWDD1', 'score': 5.65}, {'connected_gene': 'CALHM4', 'score': 0.37}]
chr6 GH06I116665 116665596 116669407 2.25 [{'connected_gene': 'ZUFSP', 'score': 563.24}, {'connected_gene': 'CALHM5', 'score': 7.39}, {'connected_gene': 'KPNA5', 'score': 6.8}, {'connected_gene': 'RWDD1', 'score': 6.3}, {'connected_gene': 'DSE', 'score': 1.12}, {'connected_gene': 'GC06P116597', 'score': 0.2}]
chr6 GH06I116528 116528127 116529894 1.29 [{'connected_gene': 'CALHM4', 'score': 550.77}, {'connected_gene': 'RSPH4A', 'score': 15.0}, {'connected_gene': 'ENSG00000237021', 'score': 12.01}, {'connected_gene': 'CALHM6', 'score': 9.24}, {'connected_gene': 'CALHM5', 'score': 7.4}, {'connected_gene': 'TRAPPC3L', 'score': 0.37}]
chr6 GH06I116491 116491987 116493130 1.06 [{'connected_gene': 'ENSG00000234117', 'score': 550.77}, {'connected_gene': 'DSE', 'score': 10.95}, {'connected_gene': 'CALHM5', 'score': 0.37}]
chr6 GH06I116513 116513578 116513727 0.38 [{'connected_gene': 'ENSG00000234117', 'score': 11.62}, {'connected_gene': 'TRAPPC3L', 'score': 10.59}, {'connected_gene': 'CALHM5', 'score': 0.77}, {'connected_gene': 'CALHM4', 'score': 0.37}]