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
ENST00000512921 [[25162284, 25162375], [25253942, 25254097], [25256686, 25256887], [25258164, 25258296], [25260658, 25260812], [25262145, 25262213], [25265371, 25265471], [25270064, 25270198], [25270765, 25270825], [25278635, 25278928]] [[25253962, 25254097], [25256686, 25256887], [25258164, 25258296], [25260658, 25260812], [25262145, 25262213], [25265371, 25265471], [25270064, 25270198], [25270765, 25270825], [25278635, 25278809]]
ENST00000507794 [[25162293, 25162375], [25199089, 25202498]] None
ENST00000510415 [[25162262, 25162375], [25163039, 25163309]] None
ENST00000264864 [[25235596, 25236053], [25253942, 25254097], [25256686, 25256887], [25258164, 25258296], [25260658, 25260812], [25262145, 25262213], [25265371, 25265471], [25270064, 25270198], [25270765, 25270825], [25278635, 25280714]] [[25235785, 25236053], [25253942, 25254097], [25256686, 25256887], [25258164, 25258296], [25260658, 25260812], [25262145, 25262213], [25265371, 25265471], [25270064, 25270198], [25270765, 25270825], [25278635, 25278809]]
NM_018323 [[25235652, 25236053], [25253942, 25254097], [25256686, 25256887], [25258164, 25258296], [25260658, 25260812], [25262145, 25262213], [25265371, 25265471], [25270064, 25270198], [25270765, 25270825], [25278635, 25280831]] [[25235785, 25236053], [25253942, 25254097], [25256686, 25256887], [25258164, 25258296], [25260658, 25260812], [25262145, 25262213], [25265371, 25265471], [25270064, 25270198], [25270765, 25270825], [25278635, 25278809]]
NR_144633 [[25235652, 25236053], [25253942, 25254097], [25256686, 25256887], [25258164, 25258296], [25260643, 25260812], [25262145, 25262213], [25265371, 25265471], [25270064, 25270198], [25270765, 25270825], [25278635, 25280831]] None
Promoter
Chrom Start End Description
chr4 25162194 25162239 CAGE_peak_5_at_PI4K2B_5end
chr4 25162253 25162303 CAGE_peak_3_at_PI4K2B_5end
chr4 25162308 25162350 CAGE_peak_2_at_PI4K2B_5end
chr4 25235625 25235692 CAGE_peak_1_at_PI4K2B_5end
chr4 25235701 25235732 CAGE_peak_4_at_PI4K2B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I025441 25441659 25441768 0.59 [{'connected_gene': 'PI4K2B', 'score': 5.09}, {'connected_gene': 'GC04P025454', 'score': 0.39}, {'connected_gene': 'LOC105374536', 'score': 0.37}]
chr4 GH04I025233 25233178 25236819 2.02 [{'connected_gene': 'PI4K2B', 'score': 556.02}, {'connected_gene': 'LOC105374535', 'score': 550.77}, {'connected_gene': 'ANAPC4', 'score': 34.46}, {'connected_gene': 'DHX15', 'score': 13.86}, {'connected_gene': 'ZCCHC4', 'score': 11.82}, {'connected_gene': 'PIR48003', 'score': 0.44}, {'connected_gene': 'ENSG00000281028', 'score': 0.19}]
chr4 GH04I025158 25158674 25162444 2.07 [{'connected_gene': 'SEPSECS', 'score': 550.77}, {'connected_gene': 'ENSG00000281028', 'score': 550.77}, {'connected_gene': 'SEPSECS-AS1', 'score': 550.77}, {'connected_gene': 'ANAPC4', 'score': 34.59}, {'connected_gene': 'PI4K2B', 'score': 17.55}, {'connected_gene': 'DHX15', 'score': 11.26}, {'connected_gene': 'PIR60918', 'score': 0.28}]
chr4 GH04I025132 25132337 25134007 0.49 [{'connected_gene': 'ANAPC4', 'score': 14.12}, {'connected_gene': 'CCDC149', 'score': 10.26}, {'connected_gene': 'PI4K2B', 'score': 5.23}, {'connected_gene': 'PIR60918', 'score': 0.39}, {'connected_gene': 'SEPSECS', 'score': 0.31}]
chr4 GH04I025153 25153406 25156410 0.79 [{'connected_gene': 'ANAPC4', 'score': 29.43}, {'connected_gene': 'CCDC149', 'score': 9.96}, {'connected_gene': 'PI4K2B', 'score': 9.31}, {'connected_gene': 'SEPSECS', 'score': 0.44}, {'connected_gene': 'PIR60918', 'score': 0.29}]
chr4 GH04I025331 25331001 25332190 0.51 [{'connected_gene': 'ANAPC4', 'score': 10.86}, {'connected_gene': 'PI4K2B', 'score': 4.85}, {'connected_gene': 'ZCCHC4', 'score': 0.37}, {'connected_gene': 'PIR58322', 'score': 0.31}]
chr4 GH04I025178 25178246 25179444 0.84 [{'connected_gene': 'ANAPC4', 'score': 23.99}, {'connected_gene': 'PI4K2B', 'score': 7.85}, {'connected_gene': 'ENSG00000281028', 'score': 0.37}, {'connected_gene': 'SEPSECS-AS1', 'score': 0.37}, {'connected_gene': 'PIR43049', 'score': 0.26}]
chr4 GH04I025240 25240601 25241264 0.92 [{'connected_gene': 'ANAPC4', 'score': 8.8}, {'connected_gene': 'PIR48003', 'score': 0.77}, {'connected_gene': 'PI4K2B', 'score': 0.44}, {'connected_gene': 'ENSG00000281028', 'score': 0.18}]
chr4 GH04I025171 25171891 25175017 0.97 [{'connected_gene': 'ANAPC4', 'score': 34.5}, {'connected_gene': 'ZCCHC4', 'score': 11.69}, {'connected_gene': 'PI4K2B', 'score': 7.88}, {'connected_gene': 'ENSG00000281028', 'score': 0.39}, {'connected_gene': 'SEPSECS-AS1', 'score': 0.39}, {'connected_gene': 'PIR43049', 'score': 0.25}]
chr4 GH04I025312 25312099 25314036 2.09 [{'connected_gene': 'ZCCHC4', 'score': 575.85}, {'connected_gene': 'ANAPC4', 'score': 64.31}, {'connected_gene': 'DHX15', 'score': 25.84}, {'connected_gene': 'PI4K2B', 'score': 4.63}, {'connected_gene': 'PIR58322', 'score': 0.26}]
chr4 GH04I025253 25253001 25253200 0.2 [{'connected_gene': 'ENSG00000278135', 'score': 0.77}, {'connected_gene': 'PI4K2B', 'score': 0.37}, {'connected_gene': 'GC04P025279', 'score': 0.31}, {'connected_gene': 'ENSG00000281028', 'score': 0.16}]
chr4 GH04I025241 25240001 25240400 0.2 [{'connected_gene': 'PIR48003', 'score': 0.77}, {'connected_gene': 'PI4K2B', 'score': 0.44}, {'connected_gene': 'ENSG00000281028', 'score': 0.18}]