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
ENST00000591700 [[42247814, 42247905], [42248214, 42248458], [42249413, 42249577]] [[42248409, 42248458], [42249413, 42249577]]
ENST00000293414 [[42248073, 42248458], [42249413, 42249681], [42254105, 42254598], [42254976, 42255090], [42255572, 42256451]] [[42248157, 42248458], [42249413, 42249681], [42254105, 42254598], [42254976, 42255090], [42255572, 42255758]]
ENST00000589618 [[42248091, 42248458], [42249413, 42249681], [42254105, 42254308], [42254976, 42255090], [42255572, 42256363]] [[42248157, 42248458], [42249413, 42249681], [42254105, 42254308], [42254976, 42255026]]
NM_080863 [[42248073, 42248458], [42249413, 42249681], [42254105, 42254598], [42254976, 42255090], [42255572, 42256451]] [[42248157, 42248458], [42249413, 42249681], [42254105, 42254598], [42254976, 42255090], [42255572, 42255758]]
Promoter
Chrom Start End Description
chr17 42248036 42248054 CAGE_peak_2_at_ASB16_5end
chr17 42248063 42248087 CAGE_peak_1_at_ASB16_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I044094 44094864 44098942 1.73 [{'connected_gene': 'ASB16', 'score': 23.87}, {'connected_gene': 'G6PC3', 'score': 22.82}, {'connected_gene': 'TMEM101', 'score': 21.63}, {'connected_gene': 'ASB16-AS1', 'score': 12.98}, {'connected_gene': 'LSM12', 'score': 12.44}, {'connected_gene': 'RNU6-131P', 'score': 12.16}, {'connected_gene': 'C17orf53', 'score': 12.13}, {'connected_gene': 'HDAC5', 'score': 11.93}, {'connected_gene': 'ENSG00000221044', 'score': 11.02}, {'connected_gene': 'PYY', 'score': 10.67}, {'connected_gene': 'NAGS', 'score': 10.64}, {'connected_gene': 'PIR35706', 'score': 0.77}, {'connected_gene': 'GC17P044094', 'score': 0.77}, {'connected_gene': 'LOC105371789', 'score': 0.39}]
chr17 GH17I044130 44130529 44131668 0.59 [{'connected_gene': 'ASB16', 'score': 16.23}, {'connected_gene': 'TMEM101', 'score': 7.02}, {'connected_gene': 'RNU6-131P', 'score': 0.77}, {'connected_gene': 'GC17M044136', 'score': 0.77}, {'connected_gene': 'HDAC5', 'score': 0.44}, {'connected_gene': 'GC17M044126', 'score': 0.39}]
chr17 GH17I044212 44212347 44213626 0.52 [{'connected_gene': 'ASB16', 'score': 12.61}, {'connected_gene': 'GRN', 'score': 4.17}, {'connected_gene': 'ENSG00000260793', 'score': 0.44}, {'connected_gene': 'UBTF', 'score': 0.44}, {'connected_gene': 'MIR6782', 'score': 0.44}, {'connected_gene': 'ENSG00000267394', 'score': 0.39}, {'connected_gene': 'LOC101926967', 'score': 0.39}]
chr17 GH17I044374 44374173 44376500 1.02 [{'connected_gene': 'ASB16', 'score': 11.17}, {'connected_gene': 'GRN', 'score': 9.58}, {'connected_gene': 'GC17M044369', 'score': 0.44}, {'connected_gene': 'ITGA2B', 'score': 0.39}]
chr17 GH17I044168 44168046 44169182 1.33 [{'connected_gene': 'ASB16', 'score': 568.71}, {'connected_gene': 'NAGS', 'score': 5.4}, {'connected_gene': 'GC17P044157', 'score': 0.39}]
chr17 GH17I044115 44115693 44115842 0.92 [{'connected_gene': 'ASB16', 'score': 24.59}, {'connected_gene': 'RNU6-131P', 'score': 11.87}, {'connected_gene': 'C17orf53', 'score': 11.84}, {'connected_gene': 'ENSG00000221044', 'score': 10.63}, {'connected_gene': 'LOC105371789', 'score': 0.77}, {'connected_gene': 'HDAC5', 'score': 0.44}]
chr17 GH17I044132 44132074 44133398 0.87 [{'connected_gene': 'ASB16', 'score': 16.9}, {'connected_gene': 'RNU6-131P', 'score': 0.77}, {'connected_gene': 'GC17M044136', 'score': 0.77}, {'connected_gene': 'HDAC5', 'score': 0.44}, {'connected_gene': 'GC17M044126', 'score': 0.44}]
chr17 GH17I044114 44114102 44114429 0.2 [{'connected_gene': 'ASB16', 'score': 10.88}, {'connected_gene': 'ENSG00000221044', 'score': 10.32}, {'connected_gene': 'LOC105371789', 'score': 0.77}, {'connected_gene': 'HDAC5', 'score': 0.44}]
chr17 GH17I044100 44099040 44099534 0.38 [{'connected_gene': 'ASB16', 'score': 23.45}, {'connected_gene': 'HDAC5', 'score': 11.96}, {'connected_gene': 'ENSG00000221044', 'score': 10.73}, {'connected_gene': 'PYY', 'score': 10.55}, {'connected_gene': 'NAGS', 'score': 10.53}, {'connected_gene': 'PIR35706', 'score': 0.44}, {'connected_gene': 'GC17P044094', 'score': 0.44}, {'connected_gene': 'LOC105371789', 'score': 0.39}]
chr17 GH17I044085 44085844 44088079 1.32 [{'connected_gene': 'ASB16', 'score': 22.56}, {'connected_gene': 'HDAC5', 'score': 11.63}, {'connected_gene': 'RNU6-131P', 'score': 11.49}, {'connected_gene': 'C17orf53', 'score': 11.48}, {'connected_gene': 'FAM171A2', 'score': 9.69}, {'connected_gene': 'ASB16-AS1', 'score': 4.24}, {'connected_gene': 'PIR36554', 'score': 0.77}, {'connected_gene': 'PIR35706', 'score': 0.44}, {'connected_gene': 'GC17P044094', 'score': 0.44}]
chr17 GH17I044049 44049288 44050522 0.43 [{'connected_gene': 'G6PC3', 'score': 22.55}, {'connected_gene': 'TMEM101', 'score': 17.7}, {'connected_gene': 'ENSG00000221044', 'score': 12.45}, {'connected_gene': 'PPY', 'score': 11.52}, {'connected_gene': 'PYY', 'score': 11.33}, {'connected_gene': 'NAGS', 'score': 11.26}, {'connected_gene': 'ASB16', 'score': 10.54}, {'connected_gene': 'GC17P044038', 'score': 0.39}, {'connected_gene': 'LSM12', 'score': 0.37}]
chr17 GH17I044245 44245673 44248143 1.18 [{'connected_gene': 'TMUB2', 'score': 24.84}, {'connected_gene': 'ASB16-AS1', 'score': 20.92}, {'connected_gene': 'DHX8', 'score': 16.46}, {'connected_gene': 'C17orf53', 'score': 12.5}, {'connected_gene': 'ENSG00000260793', 'score': 11.75}, {'connected_gene': 'ENSG00000224505', 'score': 11.74}, {'connected_gene': 'GJC1', 'score': 11.73}, {'connected_gene': 'GPATCH8', 'score': 11.63}, {'connected_gene': 'HEXIM1', 'score': 11.43}, {'connected_gene': 'LINC00910', 'score': 11.33}, {'connected_gene': 'UBTF', 'score': 10.63}, {'connected_gene': 'EFTUD2', 'score': 9.93}, {'connected_gene': 'ASB16', 'score': 6.86}, {'connected_gene': 'LINC00854', 'score': 4.37}, {'connected_gene': 'GC17M044250', 'score': 0.77}, {'connected_gene': 'SHC1P2', 'score': 0.37}]
chr17 GH17I044137 44137163 44139614 1.5 [{'connected_gene': 'TMUB2', 'score': 19.29}, {'connected_gene': 'DHX8', 'score': 19.01}, {'connected_gene': 'ASB16-AS1', 'score': 18.54}, {'connected_gene': 'ASB16', 'score': 17.18}, {'connected_gene': 'HMGN1P29', 'score': 12.39}, {'connected_gene': 'EFTUD2', 'score': 11.19}, {'connected_gene': 'UBTF', 'score': 10.19}, {'connected_gene': 'LINC00910', 'score': 10.07}, {'connected_gene': 'C17orf53', 'score': 2.82}, {'connected_gene': 'GC17M044126', 'score': 0.77}, {'connected_gene': 'GC17M044136', 'score': 0.77}, {'connected_gene': 'RNU6-131P', 'score': 0.77}]
chr17 GH17I044116 44116293 44116608 0.31 [{'connected_gene': 'C17orf53', 'score': 11.84}, {'connected_gene': 'ASB16', 'score': 11.77}, {'connected_gene': 'ENSG00000221044', 'score': 10.63}, {'connected_gene': 'TMEM101', 'score': 5.31}, {'connected_gene': 'ENSG00000267505', 'score': 4.6}, {'connected_gene': 'LOC105371789', 'score': 0.44}, {'connected_gene': 'HDAC5', 'score': 0.44}]
chr17 GH17I044118 44118773 44118922 0.63 [{'connected_gene': 'C17orf53', 'score': 11.87}, {'connected_gene': 'ASB16', 'score': 11.77}, {'connected_gene': 'ENSG00000221044', 'score': 10.63}, {'connected_gene': 'HDAC5', 'score': 0.77}, {'connected_gene': 'LOC105371789', 'score': 0.44}]
chr17 GH17I044141 44141228 44143382 2.07 [{'connected_gene': 'C17orf53', 'score': 563.13}, {'connected_gene': 'GC17M044126', 'score': 550.77}, {'connected_gene': 'DHX8', 'score': 33.53}, {'connected_gene': 'TMUB2', 'score': 33.52}, {'connected_gene': 'ASB16-AS1', 'score': 29.69}, {'connected_gene': 'HMGN1P29', 'score': 25.09}, {'connected_gene': 'LINC00910', 'score': 19.67}, {'connected_gene': 'EFTUD2', 'score': 19.4}, {'connected_gene': 'UBTF', 'score': 18.84}, {'connected_gene': 'ASB16', 'score': 17.01}, {'connected_gene': 'ENSG00000267002', 'score': 15.91}, {'connected_gene': 'ENSG00000267340', 'score': 13.58}, {'connected_gene': 'GC17P044157', 'score': 0.37}]
chr17 GH17I044023 44023129 44023463 0.76 [{'connected_gene': 'PYY', 'score': 550.77}, {'connected_gene': 'TMEM101', 'score': 550.77}, {'connected_gene': 'ENSG00000221044', 'score': 550.77}, {'connected_gene': 'ASB16', 'score': 10.07}, {'connected_gene': 'PIR35856', 'score': 0.39}, {'connected_gene': 'GC17P043983', 'score': 0.26}]
chr17 GH17I044202 44202484 44203482 0.96 [{'connected_gene': 'SLC25A39', 'score': 12.16}, {'connected_gene': 'ASB16', 'score': 11.49}, {'connected_gene': 'FAM171A2', 'score': 10.5}, {'connected_gene': 'HDAC5', 'score': 10.02}, {'connected_gene': 'ENSG00000221044', 'score': 8.78}, {'connected_gene': 'ATXN7L3', 'score': 0.77}, {'connected_gene': 'LOC101926967', 'score': 0.77}, {'connected_gene': 'MIR6782', 'score': 0.77}, {'connected_gene': 'ENSG00000267394', 'score': 0.77}]
chr17 GH17I044203 44203600 44205305 1.3 [{'connected_gene': 'ASB16-AS1', 'score': 24.67}, {'connected_gene': 'ASB16', 'score': 20.91}, {'connected_gene': 'UBTF', 'score': 15.17}, {'connected_gene': 'LINC00910', 'score': 13.17}, {'connected_gene': 'DHX8', 'score': 12.9}, {'connected_gene': 'TMUB2', 'score': 12.53}, {'connected_gene': 'SLC25A39', 'score': 12.16}, {'connected_gene': 'FAM171A2', 'score': 10.99}, {'connected_gene': 'HDAC5', 'score': 10.02}, {'connected_gene': 'ENSG00000221044', 'score': 9.48}, {'connected_gene': 'NAGS', 'score': 5.23}, {'connected_gene': 'ENSG00000267505', 'score': 4.86}, {'connected_gene': 'ATXN7L3', 'score': 0.77}, {'connected_gene': 'MIR6782', 'score': 0.77}, {'connected_gene': 'LOC101926967', 'score': 0.44}, {'connected_gene': 'ENSG00000267394', 'score': 0.44}]
chr17 GH17I044101 44101425 44113884 1.98 [{'connected_gene': 'ASB16-AS1', 'score': 28.84}, {'connected_gene': 'ASB16', 'score': 24.11}, {'connected_gene': 'NAGS', 'score': 20.57}, {'connected_gene': 'G6PC3', 'score': 20.48}, {'connected_gene': 'HMGN1P29', 'score': 18.09}, {'connected_gene': 'LINC00910', 'score': 17.36}, {'connected_gene': 'C17orf53', 'score': 16.08}, {'connected_gene': 'ENSG00000267002', 'score': 15.91}, {'connected_gene': 'DHX8', 'score': 15.28}, {'connected_gene': 'TMUB2', 'score': 14.09}, {'connected_gene': 'ENSG00000267340', 'score': 13.58}, {'connected_gene': 'LSM12', 'score': 11.95}, {'connected_gene': 'RNU6-131P', 'score': 11.51}, {'connected_gene': 'TMEM106A', 'score': 10.82}, {'connected_gene': 'PPY', 'score': 10.78}, {'connected_gene': 'PYY', 'score': 10.71}, {'connected_gene': 'ENSG00000221044', 'score': 10.71}, {'connected_gene': 'NBR2', 'score': 9.9}, {'connected_gene': 'RPL29P31', 'score': 5.08}, {'connected_gene': 'LOC105371789', 'score': 0.77}, {'connected_gene': 'PIR35706', 'score': 0.39}, {'connected_gene': 'GC17P044094', 'score': 0.39}, {'connected_gene': 'HDAC5', 'score': 0.37}]
chr17 GH17I044185 44185166 44188840 2.08 [{'connected_gene': 'ASB16-AS1', 'score': 584.43}, {'connected_gene': 'TMUB2', 'score': 581.07}, {'connected_gene': 'PIR42921', 'score': 550.77}, {'connected_gene': 'DHX8', 'score': 29.11}, {'connected_gene': 'EFTUD2', 'score': 19.51}, {'connected_gene': 'UBTF', 'score': 19.27}, {'connected_gene': 'ASB16', 'score': 17.71}, {'connected_gene': 'GPATCH8', 'score': 10.75}, {'connected_gene': 'ENSG00000224505', 'score': 10.72}, {'connected_gene': 'ENSG00000267160', 'score': 10.51}, {'connected_gene': 'LINC00910', 'score': 10.07}, {'connected_gene': 'FAM187A', 'score': 5.1}]
chr17 GH17I044099 44099630 44100588 0.31 [{'connected_gene': 'ASB16-AS1', 'score': 12.67}, {'connected_gene': 'HDAC5', 'score': 11.96}, {'connected_gene': 'ASB16', 'score': 11.26}, {'connected_gene': 'ENSG00000221044', 'score': 10.73}, {'connected_gene': 'PYY', 'score': 10.55}, {'connected_gene': 'NAGS', 'score': 10.52}, {'connected_gene': 'PIR35706', 'score': 0.44}, {'connected_gene': 'GC17P044094', 'score': 0.44}, {'connected_gene': 'LOC105371789', 'score': 0.39}]
chr17 GH17I043954 43952483 43953599 0.66 [{'connected_gene': 'NAGS', 'score': 11.86}, {'connected_gene': 'PYY', 'score': 11.82}, {'connected_gene': 'ENSG00000221044', 'score': 10.71}, {'connected_gene': 'ASB16', 'score': 5.85}, {'connected_gene': 'TMEM101', 'score': 4.41}, {'connected_gene': 'PPY', 'score': 0.44}, {'connected_gene': 'GC17P043983', 'score': 0.29}]
chr17 GH17I044076 44076830 44078000 0.87 [{'connected_gene': 'NAGS', 'score': 11.9}, {'connected_gene': 'ENSG00000221044', 'score': 11.29}, {'connected_gene': 'HDAC5', 'score': 11.19}, {'connected_gene': 'G6PC3', 'score': 11.11}, {'connected_gene': 'RNU6-131P', 'score': 10.93}, {'connected_gene': 'C17orf53', 'score': 10.92}, {'connected_gene': 'TMUB2', 'score': 10.42}, {'connected_gene': 'ASB16', 'score': 10.27}, {'connected_gene': 'GC17P044075', 'score': 0.77}, {'connected_gene': 'PIR62395', 'score': 0.77}, {'connected_gene': 'PIR36554', 'score': 0.44}]
chr17 GH17I044117 44115088 44115150 0.4 [{'connected_gene': 'RNU6-131P', 'score': 11.87}, {'connected_gene': 'C17orf53', 'score': 11.84}, {'connected_gene': 'ASB16', 'score': 11.76}, {'connected_gene': 'ENSG00000221044', 'score': 10.63}, {'connected_gene': 'LOC105371789', 'score': 0.77}, {'connected_gene': 'HDAC5', 'score': 0.44}]
chr17 GH17I044207 44207844 44211797 1.39 [{'connected_gene': 'MIR6782', 'score': 550.77}, {'connected_gene': 'ASB16', 'score': 13.93}, {'connected_gene': 'ASB16-AS1', 'score': 4.49}, {'connected_gene': 'ENSG00000260793', 'score': 0.39}, {'connected_gene': 'ENSG00000267394', 'score': 0.39}, {'connected_gene': 'LOC101926967', 'score': 0.39}, {'connected_gene': 'UBTF', 'score': 0.39}]
chr17 GH17I044121 44121759 44124753 2.26 [{'connected_gene': 'HDAC5', 'score': 550.77}, {'connected_gene': 'ASB16', 'score': 27.93}, {'connected_gene': 'ENSG00000221044', 'score': 10.62}, {'connected_gene': 'DCAKD', 'score': 4.44}, {'connected_gene': 'LOC105371789', 'score': 0.39}]
chr17 GH17I044092 44092949 44094104 0.31 [{'connected_gene': 'PIR35706', 'score': 550.77}, {'connected_gene': 'GC17P044094', 'score': 550.77}, {'connected_gene': 'ASB16', 'score': 21.73}, {'connected_gene': 'TMEM101', 'score': 21.56}, {'connected_gene': 'G6PC3', 'score': 12.47}, {'connected_gene': 'LSM12', 'score': 12.44}, {'connected_gene': 'HDAC5', 'score': 11.89}, {'connected_gene': 'RNU6-131P', 'score': 11.61}, {'connected_gene': 'C17orf53', 'score': 11.59}, {'connected_gene': 'ENSG00000221044', 'score': 10.91}, {'connected_gene': 'LOC105371789', 'score': 0.37}]
chr17 GH17I044190 44190376 44194413 0.8 [{'connected_gene': 'GC17M044232', 'score': 550.77}, {'connected_gene': 'PIR58445', 'score': 550.77}, {'connected_gene': 'PIR49601', 'score': 550.77}, {'connected_gene': 'ASB16', 'score': 17.81}, {'connected_gene': 'TMEM101', 'score': 6.98}, {'connected_gene': 'NAGS', 'score': 4.24}, {'connected_gene': 'ENSG00000267505', 'score': 4.13}, {'connected_gene': 'PIR53071', 'score': 0.77}, {'connected_gene': 'ATXN7L3', 'score': 0.44}, {'connected_gene': 'TMUB2', 'score': 0.44}]
chr17 GH17I044160 44159973 44160122 0.84 [{'connected_gene': 'GC17P044157', 'score': 0.77}, {'connected_gene': 'ASB16', 'score': 0.39}, {'connected_gene': 'C17orf53', 'score': 0.37}]
chr17 GH17I044169 44169729 44172078 1.33 [{'connected_gene': 'GC17M044169', 'score': 550.77}, {'connected_gene': 'ASB16', 'score': 550.77}, {'connected_gene': 'NAGS', 'score': 4.2}, {'connected_gene': 'GC17P044157', 'score': 0.39}, {'connected_gene': 'ASB16-AS1', 'score': 0.37}]
chr17 GH17I044053 44053213 44053322 0.38 [{'connected_gene': 'ENSG00000221044', 'score': 11.91}, {'connected_gene': 'ASB16', 'score': 10.54}, {'connected_gene': 'LSM12', 'score': 0.39}, {'connected_gene': 'GC17P044038', 'score': 0.37}]
chr17 GH17I044159 44159363 44159947 0.9 [{'connected_gene': 'GC17P044157', 'score': 550.77}, {'connected_gene': 'ENSG00000260793', 'score': 11.65}, {'connected_gene': 'TMUB2', 'score': 10.6}, {'connected_gene': 'ASB16', 'score': 0.39}, {'connected_gene': 'C17orf53', 'score': 0.37}]

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