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
ENST00000553356 [[96722546, 96722637], [96728988, 96729107], [96730009, 96730735], [96730933, 96730985], [96734766, 96735304]] [[96730019, 96730735], [96730933, 96730985], [96734766, 96734853]]
ENST00000216629 [[96722160, 96722637], [96728988, 96729107], [96730009, 96731100]] [[96730019, 96731081]]
ENST00000557122 [[96731162, 96731692], [96734766, 96734792]] None
NM_000710 [[96722546, 96722637], [96728988, 96729107], [96730009, 96731100]] [[96730019, 96731081]]
Promoter
Chrom Start End Description
chr14 96722152 96722166 CAGE_peak_4_at_BDKRB1_5end
chr14 96722171 96722185 CAGE_peak_3_at_BDKRB1_5end
chr14 96722201 96722212 CAGE_peak_5_at_BDKRB1_5end
chr14 96722315 96722352 CAGE_peak_2_at_BDKRB1_5end
chr14 96722539 96722555 CAGE_peak_1_at_BDKRB1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I095339 95339298 95341709 0.8 [{'connected_gene': 'CLMN', 'score': 17.75}, {'connected_gene': 'SNHG10', 'score': 12.13}, {'connected_gene': 'BDKRB1', 'score': 10.09}, {'connected_gene': 'SCARNA13', 'score': 9.93}, {'connected_gene': 'LINC02292', 'score': 0.39}, {'connected_gene': 'LOC105370638', 'score': 0.34}]
chr14 GH14I096260 96260212 96263945 0.98 [{'connected_gene': 'BDKRB2', 'score': 13.66}, {'connected_gene': 'ATG2B', 'score': 9.97}, {'connected_gene': 'PAPOLA', 'score': 9.28}, {'connected_gene': 'ENSG00000258793', 'score': 7.51}, {'connected_gene': 'GC14M096266', 'score': 0.77}, {'connected_gene': 'BDKRB1', 'score': 0.44}, {'connected_gene': 'ENSG00000258691', 'score': 0.22}]
chr14 GH14I096141 96140929 96141229 0.42 [{'connected_gene': 'BDKRB1', 'score': 1.93}, {'connected_gene': 'BDKRB2', 'score': 0.21}, {'connected_gene': 'C14orf132', 'score': 0.15}]
chr14 GH14I096251 96251670 96257871 1.86 [{'connected_gene': 'BDKRB1', 'score': 555.69}, {'connected_gene': 'PIR41586', 'score': 550.77}, {'connected_gene': 'ENSG00000258793', 'score': 6.02}, {'connected_gene': 'CKS1BP1', 'score': 5.77}, {'connected_gene': 'BDKRB2', 'score': 5.52}, {'connected_gene': 'ENSG00000259036', 'score': 0.34}, {'connected_gene': 'ENSG00000258691', 'score': 0.25}]
chr14 GH14I095494 95494158 95498113 1.51 [{'connected_gene': 'ATG2B', 'score': 14.62}, {'connected_gene': 'SNHG10', 'score': 11.96}, {'connected_gene': 'BDKRB1', 'score': 9.81}, {'connected_gene': 'SYNE3', 'score': 5.86}, {'connected_gene': 'CLMN', 'score': 1.82}, {'connected_gene': 'LOC101929107', 'score': 0.37}, {'connected_gene': 'LOC105370641', 'score': 0.29}]
chr14 GH14I095290 95290478 95292849 1.55 [{'connected_gene': 'SNHG10', 'score': 92.62}, {'connected_gene': 'SCARNA13', 'score': 41.41}, {'connected_gene': 'DICER1', 'score': 20.35}, {'connected_gene': 'CLMN', 'score': 16.73}, {'connected_gene': 'BDKRB1', 'score': 11.04}, {'connected_gene': 'ENSG00000258615', 'score': 0.16}]
chr14 GH14I096100 96100600 96107873 1.57 [{'connected_gene': 'PAPOLA', 'score': 16.08}, {'connected_gene': 'BDKRB2', 'score': 14.07}, {'connected_gene': 'SCARNA13', 'score': 12.73}, {'connected_gene': 'DICER1', 'score': 11.55}, {'connected_gene': 'SNHG10', 'score': 10.74}, {'connected_gene': 'C14orf132', 'score': 5.16}, {'connected_gene': 'BDKRB1', 'score': 2.44}]
chr14 GH14I096264 96264888 96270166 1.14 [{'connected_gene': 'ENSG00000258793', 'score': 562.13}, {'connected_gene': 'GC14M096266', 'score': 550.77}, {'connected_gene': 'BDKRB2', 'score': 9.17}, {'connected_gene': 'PAPOLA', 'score': 9.06}, {'connected_gene': 'GSKIP', 'score': 8.23}, {'connected_gene': 'BDKRB1', 'score': 5.22}, {'connected_gene': 'GC14M096269', 'score': 0.77}]