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
ENST00000229708 [[150285142, 150285270], [150289742, 150290006], [150290220, 150290496], [150291151, 150291283], [150292504, 150294846]] [[150285185, 150285270], [150289742, 150290006], [150290220, 150290496], [150291151, 150291261]]
NM_001317089 [[150285109, 150285270], [150291151, 150291283], [150292504, 150294849]] [[150285185, 150285270], [150291151, 150291261]]
NM_025218 [[150285109, 150285270], [150289742, 150290006], [150290220, 150290496], [150291151, 150291283], [150292504, 150294849]] [[150285185, 150285270], [150289742, 150290006], [150290220, 150290496], [150291151, 150291261]]
NR_133659 [[150285109, 150286618], [150289742, 150290006], [150290220, 150290496], [150291151, 150291283], [150292504, 150294849]] None
Promoter
Chrom Start End Description
chr6 150285070 150285086 CAGE_peak_2_at_ULBP1_5end
chr6 150285102 150285120 CAGE_peak_3_at_ULBP1_5end
chr6 150285135 150285151 CAGE_peak_1_at_ULBP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I149858 149858925 149865280 2.45 [{'connected_gene': 'LRP11', 'score': 556.23}, {'connected_gene': 'ENSG00000268592', 'score': 550.77}, {'connected_gene': 'RAET1E-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000216906', 'score': 32.14}, {'connected_gene': 'ENSG00000231760', 'score': 32.12}, {'connected_gene': 'RAET1E', 'score': 15.94}, {'connected_gene': 'LATS1', 'score': 11.75}, {'connected_gene': 'NUP43', 'score': 7.57}, {'connected_gene': 'ULBP1', 'score': 5.09}, {'connected_gene': 'ENSG00000273132', 'score': 0.44}]
chr6 GH06I149962 149962670 149965727 2.35 [{'connected_gene': 'ULBP1', 'score': 578.81}, {'connected_gene': 'LATS1', 'score': 54.56}, {'connected_gene': 'NUP43', 'score': 38.37}, {'connected_gene': 'PPIL4', 'score': 21.15}, {'connected_gene': 'KATNA1', 'score': 18.59}, {'connected_gene': 'RAET1K', 'score': 16.65}, {'connected_gene': 'ENSG00000216906', 'score': 11.43}, {'connected_gene': 'ENSG00000233330', 'score': 10.53}, {'connected_gene': 'ULBP2', 'score': 8.78}, {'connected_gene': 'ENSG00000219298', 'score': 0.39}]
chr6 GH06I150007 150007205 150007374 0.75 [{'connected_gene': 'ULBP1', 'score': 13.28}, {'connected_gene': 'RAET1L', 'score': 5.01}, {'connected_gene': 'RAET1K', 'score': 0.77}]
chr6 GH06I149937 149937839 149939245 0.98 [{'connected_gene': 'ULBP2', 'score': 11.0}, {'connected_gene': 'ULBP1', 'score': 9.42}, {'connected_gene': 'RAET1K', 'score': 9.23}, {'connected_gene': 'LOC105378052', 'score': 0.77}]
chr6 GH06I150004 150004291 150006012 1.52 [{'connected_gene': 'RAET1K', 'score': 550.77}, {'connected_gene': 'LATS1', 'score': 37.58}, {'connected_gene': 'PPIL4', 'score': 28.15}, {'connected_gene': 'ENSG00000233330', 'score': 21.52}, {'connected_gene': 'RPS18P9', 'score': 20.52}, {'connected_gene': 'ULBP1', 'score': 18.25}, {'connected_gene': 'NUP43', 'score': 14.56}, {'connected_gene': 'KATNA1', 'score': 11.56}, {'connected_gene': 'GINM1', 'score': 10.67}, {'connected_gene': 'ENSG00000231760', 'score': 9.73}, {'connected_gene': 'MTHFD1L', 'score': 4.82}, {'connected_gene': 'BTF3P10', 'score': 0.31}]
chr6 GH06I149990 149990465 149991174 0.8 [{'connected_gene': 'RAET1E', 'score': 10.95}, {'connected_gene': 'ULBP1', 'score': 6.84}, {'connected_gene': 'RAET1K', 'score': 0.39}, {'connected_gene': 'BTF3P10', 'score': 0.39}]
chr6 GH06I149991 149991185 149991334 0.69 [{'connected_gene': 'RAET1E', 'score': 10.95}, {'connected_gene': 'ULBP1', 'score': 6.72}, {'connected_gene': 'RAET1K', 'score': 0.39}, {'connected_gene': 'BTF3P10', 'score': 0.39}]
chr6 GH06I150001 150001005 150001875 0.7 [{'connected_gene': 'ENSG00000231760', 'score': 6.16}, {'connected_gene': 'ULBP1', 'score': 5.18}, {'connected_gene': 'RAET1K', 'score': 0.77}, {'connected_gene': 'BTF3P10', 'score': 0.34}]