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
ENST00000302909 [[26915618, 26916026], [26950534, 26956288]] [[26915743, 26916026], [26950534, 26951436]]
NM_002246 [[26915580, 26916026], [26950534, 26954066]] [[26915743, 26916026], [26950534, 26951436]]
Promoter
Chrom Start End Description
chr2 26915117 26915159 CAGE_peak_4_at_KCNK3_5end
chr2 26915553 26915583 CAGE_peak_2_at_KCNK3_5end
chr2 26915584 26915634 CAGE_peak_1_at_KCNK3_5end
chr2 26915639 26915654 CAGE_peak_3_at_KCNK3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I026754 26754513 26760305 1.75 [{'connected_gene': 'EIF2B4', 'score': 23.15}, {'connected_gene': 'GPN1', 'score': 20.06}, {'connected_gene': 'CAD', 'score': 15.87}, {'connected_gene': 'LOC105374363', 'score': 14.38}, {'connected_gene': 'GTF3C2', 'score': 11.98}, {'connected_gene': 'NRBP1', 'score': 11.96}, {'connected_gene': 'TMEM214', 'score': 11.87}, {'connected_gene': 'KCNK3', 'score': 11.31}, {'connected_gene': 'KHK', 'score': 10.9}, {'connected_gene': 'SUPT7L', 'score': 10.66}, {'connected_gene': 'ZNF512', 'score': 10.14}, {'connected_gene': 'ASXL2', 'score': 9.66}, {'connected_gene': 'SLC35F6', 'score': 1.75}, {'connected_gene': 'GC02P026705', 'score': 0.23}]
chr2 GH02I026749 26749452 26751095 1.13 [{'connected_gene': 'CAD', 'score': 15.87}, {'connected_gene': 'LOC105374363', 'score': 14.38}, {'connected_gene': 'EIF2B4', 'score': 14.21}, {'connected_gene': 'GTF3C2', 'score': 11.98}, {'connected_gene': 'TMEM214', 'score': 11.87}, {'connected_gene': 'KCNK3', 'score': 11.33}, {'connected_gene': 'GPN1', 'score': 10.93}, {'connected_gene': 'SUPT7L', 'score': 10.66}, {'connected_gene': 'ZNF512', 'score': 10.14}, {'connected_gene': 'DPYSL5', 'score': 9.43}, {'connected_gene': 'SLC35F6', 'score': 0.39}, {'connected_gene': 'GC02P026705', 'score': 0.26}]
chr2 GH02I026701 26701903 26702992 0.69 [{'connected_gene': 'CAD', 'score': 15.86}, {'connected_gene': 'LOC105374363', 'score': 14.39}, {'connected_gene': 'EIF2B4', 'score': 14.21}, {'connected_gene': 'GTF3C2', 'score': 11.98}, {'connected_gene': 'TMEM214', 'score': 11.87}, {'connected_gene': 'GPN1', 'score': 10.93}, {'connected_gene': 'SUPT7L', 'score': 10.66}, {'connected_gene': 'ZNF512', 'score': 10.14}, {'connected_gene': 'CENPA', 'score': 4.48}, {'connected_gene': 'GC02P026705', 'score': 0.77}, {'connected_gene': 'KCNK3', 'score': 0.44}]
chr2 GH02I026648 26648983 26654360 0.72 [{'connected_gene': 'CAD', 'score': 22.43}, {'connected_gene': 'LOC105374363', 'score': 15.32}, {'connected_gene': 'ZNF513', 'score': 15.2}, {'connected_gene': 'EIF2B4', 'score': 12.03}, {'connected_gene': 'GTF3C2-AS1', 'score': 11.96}, {'connected_gene': 'GTF3C2', 'score': 11.56}, {'connected_gene': 'KCNK3', 'score': 11.44}, {'connected_gene': 'ZNF512', 'score': 11.17}, {'connected_gene': 'IFT172', 'score': 10.88}, {'connected_gene': 'DPYSL5', 'score': 10.21}, {'connected_gene': 'ENSG00000235267', 'score': 9.71}, {'connected_gene': 'GC02P026658', 'score': 0.44}, {'connected_gene': 'CIB4', 'score': 0.39}]
chr2 GH02I026942 26942693 26942842 0.85 [{'connected_gene': 'DPYSL5', 'score': 11.92}, {'connected_gene': 'MAPRE3', 'score': 11.62}, {'connected_gene': 'LOC100129724', 'score': 11.5}, {'connected_gene': 'LOC105374337', 'score': 10.99}, {'connected_gene': 'EMILIN1', 'score': 10.04}, {'connected_gene': 'KHK', 'score': 10.0}, {'connected_gene': 'KCNK3', 'score': 9.63}, {'connected_gene': 'PIR42524', 'score': 0.28}]
chr2 GH02I026945 26945491 26948038 0.56 [{'connected_gene': 'KHK', 'score': 40.12}, {'connected_gene': 'DPYSL5', 'score': 11.92}, {'connected_gene': 'MAPRE3', 'score': 11.65}, {'connected_gene': 'LOC100129724', 'score': 11.52}, {'connected_gene': 'LOC105374337', 'score': 10.99}, {'connected_gene': 'EMILIN1', 'score': 10.04}, {'connected_gene': 'KCNK3', 'score': 9.63}, {'connected_gene': 'PIR42524', 'score': 0.26}]
chr2 GH02I026889 26889938 26894009 0.46 [{'connected_gene': 'KHK', 'score': 17.59}, {'connected_gene': 'GTF3C2', 'score': 12.12}, {'connected_gene': 'CAD', 'score': 12.06}, {'connected_gene': 'DPYSL5', 'score': 11.78}, {'connected_gene': 'GPN1', 'score': 11.18}, {'connected_gene': 'EIF2B4', 'score': 11.03}, {'connected_gene': 'MAPRE3', 'score': 10.58}, {'connected_gene': 'LOC100129724', 'score': 10.29}, {'connected_gene': 'LOC105374337', 'score': 10.21}, {'connected_gene': 'KCNK3', 'score': 9.94}, {'connected_gene': 'LOC105374363', 'score': 9.75}, {'connected_gene': 'AGBL5', 'score': 9.71}, {'connected_gene': 'AGBL5-AS1', 'score': 9.71}, {'connected_gene': 'PREB', 'score': 9.13}, {'connected_gene': 'PIR42524', 'score': 0.39}]
chr2 GH02I026734 26734940 26736687 1.27 [{'connected_gene': 'KCNK3', 'score': 12.1}, {'connected_gene': 'DPYSL5', 'score': 10.04}, {'connected_gene': 'MAPRE3', 'score': 9.14}, {'connected_gene': 'SLC35F6', 'score': 0.31}, {'connected_gene': 'GC02P026705', 'score': 0.29}]
chr2 GH02I026735 26734195 26734727 0.49 [{'connected_gene': 'KCNK3', 'score': 12.1}, {'connected_gene': 'DPYSL5', 'score': 10.04}, {'connected_gene': 'MAPRE3', 'score': 9.14}, {'connected_gene': 'KHK', 'score': 6.82}, {'connected_gene': 'GC02P026705', 'score': 0.31}, {'connected_gene': 'SLC35F6', 'score': 0.31}]
chr2 GH02I026736 26736883 26737492 0.56 [{'connected_gene': 'KCNK3', 'score': 12.1}, {'connected_gene': 'DPYSL5', 'score': 10.04}, {'connected_gene': 'MAPRE3', 'score': 9.14}, {'connected_gene': 'CENPA', 'score': 7.79}, {'connected_gene': 'SLC35F6', 'score': 0.31}, {'connected_gene': 'GC02P026705', 'score': 0.29}]
chr2 GH02I026655 26655933 26656062 0.2 [{'connected_gene': 'KCNK3', 'score': 11.46}, {'connected_gene': 'DPYSL5', 'score': 9.47}, {'connected_gene': 'GC02P026658', 'score': 0.77}, {'connected_gene': 'CIB4', 'score': 0.39}]
chr2 GH02I026737 26737705 26738592 0.52 [{'connected_gene': 'KCNK3', 'score': 12.09}, {'connected_gene': 'KHK', 'score': 10.33}, {'connected_gene': 'DPYSL5', 'score': 10.05}, {'connected_gene': 'MAPRE3', 'score': 9.14}, {'connected_gene': 'SLC35F6', 'score': 0.31}, {'connected_gene': 'GC02P026705', 'score': 0.29}]
chr2 GH02I026727 26727721 26729475 0.57 [{'connected_gene': 'KCNK3', 'score': 12.58}, {'connected_gene': 'MAPRE3', 'score': 9.38}, {'connected_gene': 'GC02P026705', 'score': 0.34}, {'connected_gene': 'SLC35F6', 'score': 0.28}]
chr2 GH02I026691 26691436 26693001 1.84 [{'connected_gene': 'KCNK3', 'score': 550.77}, {'connected_gene': 'CIB4', 'score': 5.67}, {'connected_gene': 'RPL37P11', 'score': 0.39}]
chr2 GH02I026729 26729759 26734070 0.63 [{'connected_gene': 'KCNK3', 'score': 12.58}, {'connected_gene': 'CENPA', 'score': 10.9}, {'connected_gene': 'DPYSL5', 'score': 10.03}, {'connected_gene': 'MAPRE3', 'score': 9.38}, {'connected_gene': 'KHK', 'score': 7.09}, {'connected_gene': 'GC02P026705', 'score': 0.31}, {'connected_gene': 'SLC35F6', 'score': 0.29}]
chr2 GH02I026562 26562169 26563462 1.5 [{'connected_gene': 'C2orf70', 'score': 550.77}, {'connected_gene': 'KCNK3', 'score': 10.42}, {'connected_gene': 'GC02P026627', 'score': 0.21}]
chr2 GH02I026689 26689621 26690150 0.2 [{'connected_gene': 'CIB4', 'score': 10.35}, {'connected_gene': 'DPYSL5', 'score': 9.09}, {'connected_gene': 'KCNK3', 'score': 0.77}, {'connected_gene': 'RPL37P11', 'score': 0.39}, {'connected_gene': 'GC02P026658', 'score': 0.29}]
chr2 GH02I026685 26685088 26688896 0.56 [{'connected_gene': 'CIB4', 'score': 15.93}, {'connected_gene': 'DPYSL5', 'score': 9.56}, {'connected_gene': 'MAPRE3', 'score': 9.53}, {'connected_gene': 'RPL37P11', 'score': 0.44}, {'connected_gene': 'KCNK3', 'score': 0.44}, {'connected_gene': 'GC02P026658', 'score': 0.31}]
chr2 GH02I026708 26708868 26711050 0.58 [{'connected_gene': 'CIB4', 'score': 6.13}, {'connected_gene': 'ENSG00000225378', 'score': 4.52}, {'connected_gene': 'GC02P026705', 'score': 0.77}, {'connected_gene': 'KCNK3', 'score': 0.37}, {'connected_gene': 'SLC35F6', 'score': 0.23}]
chr2 GH02I026609 26609202 26611027 0.57 [{'connected_gene': 'CIB4', 'score': 11.78}, {'connected_gene': 'KCNK3', 'score': 11.65}, {'connected_gene': 'C2orf70', 'score': 4.13}, {'connected_gene': 'GC02P026627', 'score': 0.37}]
chr2 GH02I026693 26693948 26698412 0.8 [{'connected_gene': 'CIB4', 'score': 5.75}, {'connected_gene': 'ENSG00000225378', 'score': 4.59}, {'connected_gene': 'KCNK3', 'score': 0.77}, {'connected_gene': 'GC02P026705', 'score': 0.44}]
chr2 GH02I026699 26699154 26701863 0.52 [{'connected_gene': 'CIB4', 'score': 5.74}, {'connected_gene': 'GC02P026705', 'score': 0.44}, {'connected_gene': 'KCNK3', 'score': 0.44}]
chr2 GH02I026717 26717182 26727327 1.91 [{'connected_gene': 'CENPA', 'score': 20.77}, {'connected_gene': 'EIF2B4', 'score': 20.39}, {'connected_gene': 'GPN1', 'score': 14.33}, {'connected_gene': 'GTF3C2', 'score': 14.08}, {'connected_gene': 'CAD', 'score': 13.17}, {'connected_gene': 'KCNK3', 'score': 12.61}, {'connected_gene': 'SLC35F6', 'score': 12.04}, {'connected_gene': 'GTF3C2-AS1', 'score': 11.2}, {'connected_gene': 'NRBP1', 'score': 10.94}, {'connected_gene': 'C2orf70', 'score': 10.85}, {'connected_gene': 'OTOF', 'score': 10.84}, {'connected_gene': 'ASXL2', 'score': 10.74}, {'connected_gene': 'MAPRE3', 'score': 9.38}, {'connected_gene': 'KHK', 'score': 6.89}, {'connected_gene': 'DPYSL5', 'score': 5.26}, {'connected_gene': 'HADHB', 'score': 4.66}, {'connected_gene': 'ADGRF3', 'score': 2.86}, {'connected_gene': 'HADHA', 'score': 2.5}, {'connected_gene': 'ATRAID', 'score': 1.31}, {'connected_gene': 'GC02P026705', 'score': 0.37}]
chr2 GH02I026713 26713893 26716309 0.46 [{'connected_gene': 'CENPA', 'score': 7.52}, {'connected_gene': 'KHK', 'score': 4.9}, {'connected_gene': 'GC02P026705', 'score': 0.44}, {'connected_gene': 'KCNK3', 'score': 0.34}, {'connected_gene': 'SLC35F6', 'score': 0.25}]
chr2 GH02I026711 26711981 26713364 0.77 [{'connected_gene': 'GC02P026705', 'score': 0.44}, {'connected_gene': 'KCNK3', 'score': 0.37}, {'connected_gene': 'SLC35F6', 'score': 0.23}]
chr2 GH02I026698 26698594 26698964 0.2 [{'connected_gene': 'GC02P026705', 'score': 0.44}, {'connected_gene': 'KCNK3', 'score': 0.44}]
chr2 GH02I026703 26703973 26708343 0.79 [{'connected_gene': 'GC02P026705', 'score': 550.77}, {'connected_gene': 'CIB4', 'score': 6.18}, {'connected_gene': 'KCNK3', 'score': 0.39}, {'connected_gene': 'SLC35F6', 'score': 0.22}]