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
ENST00000376851 [[51461886, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471320, 51471368], [51471796, 51472228]] [[51462419, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471320, 51471360]]
ENST00000310157 [[51461886, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471320, 51471368], [51471796, 51471847], [51472745, 51472929]] [[51462419, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471320, 51471360]]
ENST00000391808 [[51461887, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471796, 51472047]] [[51462419, 51462572], [51464999, 51465136], [51466557, 51466681]]
ENST00000597379 [[51461887, 51462572], [51464999, 51465136], [51466557, 51466805], [51471320, 51471368], [51471796, 51471847], [51472745, 51472929]] [[51466722, 51466805], [51471320, 51471360]]
ENST00000456750 [[51462404, 51462572], [51464999, 51465136], [51466557, 51466681]] [[51462419, 51462572], [51464999, 51465136], [51466557, 51466681]]
ENST00000376853 [[51462404, 51462572], [51470424, 51470581], [51471320, 51471371]] [[51462406, 51462572], [51470424, 51470581], [51471320, 51471360]]
ENST00000594641 [[51462404, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471320, 51471452]] [[51462419, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471320, 51471360]]
ENST00000599881 [[51462413, 51462572], [51464999, 51465136], [51466557, 51466805], [51471320, 51471368], [51471796, 51472023]] [[51466722, 51466805], [51471320, 51471360]]
ENST00000599690 [[51462413, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471796, 51472023]] [[51466722, 51466805], [51470424, 51470551]]
ENST00000424910 [[51466722, 51466805], [51471320, 51471371]] [[51466722, 51466805], [51471320, 51471360]]
NM_001012964 [[51461886, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471320, 51471368], [51471796, 51472228]] [[51462419, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471320, 51471360]]
NM_001319949 [[51461886, 51462572], [51464999, 51465136], [51466557, 51466805], [51471320, 51471368], [51471796, 51472228]] [[51462419, 51462572], [51464999, 51465136], [51466557, 51466681]]
NM_001012965 [[51461886, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471796, 51472228]] [[51462419, 51462572], [51464999, 51465136], [51466557, 51466681]]
NM_002774 [[51461886, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471320, 51471368], [51471796, 51471847], [51472745, 51472929]] [[51462419, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471320, 51471360]]
NM_001319948 [[51461886, 51462572], [51464999, 51465136], [51466557, 51466805], [51471320, 51471368], [51471796, 51471847], [51472745, 51472929]] [[51462419, 51462572], [51464999, 51465136], [51466557, 51466681]]
Promoter
Chrom Start End Description
chr19 51466720 51466732 CAGE_peak_12_at_KLK6_5end
chr19 51471362 51471380 CAGE_peak_7_at_KLK6_5end
chr19 51471381 51471383 CAGE_peak_14_at_KLK6_5end
chr19 51471909 51471917 CAGE_peak_10_at_KLK6_5end
chr19 51471925 51471946 CAGE_peak_4_at_KLK6_5end
chr19 51471965 51471976 CAGE_peak_5_at_KLK6_5end
chr19 51472014 51472030 CAGE_peak_2_at_KLK6_5end
chr19 51472031 51472042 CAGE_peak_6_at_KLK6_5end
chr19 51472081 51472088 CAGE_peak_8_at_KLK6_5end
chr19 51472185 51472197 CAGE_peak_11_at_KLK6_5end
chr19 51472222 51472234 CAGE_peak_9_at_KLK6_5end
chr19 51472780 51472820 CAGE_peak_3_at_KLK6_5end
chr19 51472823 51472852 CAGE_peak_1_at_KLK6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I050931 50931357 50934289 0.69 [{'connected_gene': 'KLK4', 'score': 12.31}, {'connected_gene': 'KLK6', 'score': 11.71}, {'connected_gene': 'KLK2', 'score': 11.06}, {'connected_gene': 'KLK15', 'score': 11.01}, {'connected_gene': 'KLK1', 'score': 11.0}, {'connected_gene': 'LINC01869', 'score': 10.98}, {'connected_gene': 'C19orf48', 'score': 10.87}, {'connected_gene': 'SNORD88C', 'score': 10.86}, {'connected_gene': 'KLK14', 'score': 10.18}, {'connected_gene': 'CTU1', 'score': 9.72}, {'connected_gene': 'PPIAP59', 'score': 0.77}]
chr19 GH19I050566 50566204 50566501 0.94 [{'connected_gene': 'LRRC4B', 'score': 553.1}, {'connected_gene': 'SYT3', 'score': 5.06}, {'connected_gene': 'KLK6', 'score': 2.52}, {'connected_gene': 'KCNC3', 'score': 1.28}, {'connected_gene': 'ENSG00000268231', 'score': 0.44}]
chr19 GH19I050509 50508805 50509125 0.55 [{'connected_gene': 'SYT3', 'score': 1.6}, {'connected_gene': 'SHANK1', 'score': 1.29}, {'connected_gene': 'KLK6', 'score': 1.28}, {'connected_gene': 'JOSD2', 'score': 0.77}, {'connected_gene': 'LOC100506114', 'score': 0.34}]
chr19 GH19I051016 51016639 51018114 1.11 [{'connected_gene': 'ZNF175', 'score': 29.06}, {'connected_gene': 'ZNF615', 'score': 25.61}, {'connected_gene': 'KLK10', 'score': 23.63}, {'connected_gene': 'ZNF577', 'score': 19.9}, {'connected_gene': 'LRRC4B', 'score': 15.86}, {'connected_gene': 'POLD1', 'score': 13.51}, {'connected_gene': 'SPACA6', 'score': 13.46}, {'connected_gene': 'ZNF613', 'score': 12.25}, {'connected_gene': 'ZNF350', 'score': 11.4}, {'connected_gene': 'KLK13', 'score': 11.2}, {'connected_gene': 'KLK6', 'score': 11.08}, {'connected_gene': 'ZNF473', 'score': 10.98}, {'connected_gene': 'ENSG00000267808', 'score': 10.77}, {'connected_gene': 'SHANK1', 'score': 10.69}, {'connected_gene': 'ZNF649', 'score': 10.65}, {'connected_gene': 'KLK14', 'score': 10.37}, {'connected_gene': 'VRK3', 'score': 10.36}, {'connected_gene': 'ENSG00000268231', 'score': 10.26}, {'connected_gene': 'LINC01869', 'score': 9.46}, {'connected_gene': 'C19orf48', 'score': 9.46}, {'connected_gene': 'SNORD88C', 'score': 9.46}, {'connected_gene': 'ENSG00000268739', 'score': 0.77}]
chr19 GH19I051018 51018220 51020644 1.55 [{'connected_gene': 'KLK10', 'score': 574.42}, {'connected_gene': 'ZNF577', 'score': 28.71}, {'connected_gene': 'ZNF649', 'score': 25.8}, {'connected_gene': 'ZNF175', 'score': 22.55}, {'connected_gene': 'ENSG00000269483', 'score': 15.54}, {'connected_gene': 'KLK13', 'score': 11.2}, {'connected_gene': 'KLK6', 'score': 11.08}, {'connected_gene': 'ZNF350', 'score': 10.97}, {'connected_gene': 'ZNF615', 'score': 10.56}, {'connected_gene': 'KLK14', 'score': 10.37}, {'connected_gene': 'ZNF473', 'score': 10.06}, {'connected_gene': 'SNORD88C', 'score': 9.46}, {'connected_gene': 'LINC01869', 'score': 9.46}, {'connected_gene': 'C19orf48', 'score': 9.46}, {'connected_gene': 'ENSG00000267879', 'score': 5.38}, {'connected_gene': 'ENSG00000268739', 'score': 0.44}]
chr19 GH19I050968 50968118 50970074 1.21 [{'connected_gene': 'KLK6', 'score': 562.38}, {'connected_gene': 'ENSG00000267879', 'score': 550.77}, {'connected_gene': 'KLK7', 'score': 11.31}, {'connected_gene': 'KLK5', 'score': 8.89}, {'connected_gene': 'ENSG00000269495', 'score': 5.52}, {'connected_gene': 'ZNF473', 'score': 5.06}, {'connected_gene': 'LOC105372442', 'score': 0.44}]
chr19 GH19I050975 50975406 50976374 0.69 [{'connected_gene': 'KLK6', 'score': 0.44}, {'connected_gene': 'ENSG00000267879', 'score': 0.44}, {'connected_gene': 'KLK7', 'score': 0.44}]
chr19 GH19I050929 50929945 50930094 0.78 [{'connected_gene': 'KLK6', 'score': 11.71}, {'connected_gene': 'KLK2', 'score': 11.07}, {'connected_gene': 'C19orf48', 'score': 10.87}, {'connected_gene': 'SNORD88C', 'score': 10.87}, {'connected_gene': 'LINC01869', 'score': 10.87}, {'connected_gene': 'CTU1', 'score': 9.72}, {'connected_gene': 'PPIAP59', 'score': 0.44}, {'connected_gene': 'KLK4', 'score': 0.37}]
chr19 GH19I050966 50966194 50966253 0.61 [{'connected_gene': 'KLK6', 'score': 550.77}, {'connected_gene': 'ENSG00000267879', 'score': 550.77}, {'connected_gene': 'LOC105372442', 'score': 0.77}]
chr19 GH19I050983 50983905 50983964 0.68 [{'connected_gene': 'KLK7', 'score': 558.9}, {'connected_gene': 'KLK6', 'score': 0.39}, {'connected_gene': 'ENSG00000267879', 'score': 0.37}]
chr19 GH19I050984 50984028 50984087 0.68 [{'connected_gene': 'KLK7', 'score': 550.77}, {'connected_gene': 'KLK6', 'score': 0.39}, {'connected_gene': 'ENSG00000267879', 'score': 0.37}]
chr19 GH19I050695 50695166 50695581 0.76 [{'connected_gene': 'ASPDH', 'score': 19.0}, {'connected_gene': 'SYT3', 'score': 15.73}, {'connected_gene': 'KCNC3', 'score': 14.8}, {'connected_gene': 'LRRC4B', 'score': 13.31}, {'connected_gene': 'SPACA6P-AS', 'score': 11.36}, {'connected_gene': 'FUZ', 'score': 9.95}, {'connected_gene': 'SHANK1', 'score': 3.95}, {'connected_gene': 'KLK6', 'score': 2.92}, {'connected_gene': 'PIR41386', 'score': 0.44}]
chr19 GH19I050663 50663741 50664139 0.55 [{'connected_gene': 'KLK14', 'score': 2.28}, {'connected_gene': 'SYT3', 'score': 2.18}, {'connected_gene': 'KLK6', 'score': 2.06}, {'connected_gene': 'C19orf81', 'score': 1.96}, {'connected_gene': 'KLK4', 'score': 1.57}, {'connected_gene': 'PIR41386', 'score': 0.28}, {'connected_gene': 'SHANK1', 'score': 0.22}]
chr19 GH19I050962 50962245 50962532 0.51 [{'connected_gene': 'LOC105372442', 'score': 550.77}, {'connected_gene': 'ENSG00000279676', 'score': 550.77}, {'connected_gene': 'KLK4', 'score': 14.92}, {'connected_gene': 'SIGLECL1', 'score': 10.52}, {'connected_gene': 'C19orf81', 'score': 9.79}, {'connected_gene': 'KLK14', 'score': 7.6}, {'connected_gene': 'ACP4', 'score': 4.15}, {'connected_gene': 'IGLON5', 'score': 2.1}, {'connected_gene': 'ETFB', 'score': 2.05}, {'connected_gene': 'SYT3', 'score': 1.85}, {'connected_gene': 'KLK6', 'score': 0.44}, {'connected_gene': 'KLK5', 'score': 0.44}, {'connected_gene': 'ENSG00000269495', 'score': 0.39}]
chr19 GH19I050555 50555557 50557526 1.61 [{'connected_gene': 'ENSG00000268231', 'score': 550.77}, {'connected_gene': 'ASPDH', 'score': 16.45}, {'connected_gene': 'JOSD2', 'score': 11.79}, {'connected_gene': 'PTOV1', 'score': 10.58}, {'connected_gene': 'LINC01869', 'score': 9.99}, {'connected_gene': 'C19orf48', 'score': 9.99}, {'connected_gene': 'SNORD88C', 'score': 9.99}, {'connected_gene': 'KLK4', 'score': 5.14}, {'connected_gene': 'C19orf81', 'score': 5.08}, {'connected_gene': 'SYT3', 'score': 2.81}, {'connected_gene': 'ACP4', 'score': 2.29}, {'connected_gene': 'LRRC4B', 'score': 1.67}, {'connected_gene': 'KLK6', 'score': 1.45}]