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
ENST00000369500 [[116654375, 116654431], [116655027, 116655284], [116663552, 116663693], [116666686, 116666978], [116670086, 116670265], [116670765, 116670960], [116675752, 116677861]] [[116655236, 116655284], [116663552, 116663693], [116666686, 116666978], [116670086, 116670265], [116670765, 116670960], [116675752, 116675986]]
ENST00000464946 [[116666493, 116666520], [116666686, 116666978], [116670086, 116670265], [116670765, 116670868]] None
NM_152367 [[116654375, 116654431], [116655027, 116655284], [116663552, 116663693], [116666686, 116666978], [116670086, 116670265], [116670765, 116670960], [116675752, 116677861]] [[116655236, 116655284], [116663552, 116663693], [116666686, 116666978], [116670086, 116670265], [116670765, 116670960], [116675752, 116675986]]
Promoter
Chrom Start End Description
chr1 116654016 116654027 CAGE_peak_1_at_MAB21L3_5end
chr1 116654056 116654068 CAGE_peak_4_at_MAB21L3_5end
chr1 116654077 116654090 CAGE_peak_3_at_MAB21L3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I116092 116092677 116093619 0.52 [{'connected_gene': 'ATP1A1-AS1', 'score': 10.28}, {'connected_gene': 'MAB21L3', 'score': 5.29}, {'connected_gene': 'CD58', 'score': 4.99}, {'connected_gene': 'SLC22A15', 'score': 4.67}, {'connected_gene': 'GC01M116040', 'score': 0.44}]
chr1 GH01I116008 116008126 116009643 0.31 [{'connected_gene': 'CASQ2', 'score': 9.28}, {'connected_gene': 'SLC22A15', 'score': 8.19}, {'connected_gene': 'MAB21L3', 'score': 4.41}, {'connected_gene': 'ENSG00000237993', 'score': 0.44}, {'connected_gene': 'LOC101928977', 'score': 0.29}]
chr1 GH01I116023 116023583 116026057 0.2 [{'connected_gene': 'CASQ2', 'score': 9.33}, {'connected_gene': 'SLC22A15', 'score': 8.2}, {'connected_gene': 'MAB21L3', 'score': 5.16}, {'connected_gene': 'ENSG00000237993', 'score': 0.44}]
chr1 GH01I116026 116026369 116027632 0.2 [{'connected_gene': 'CASQ2', 'score': 9.33}, {'connected_gene': 'SLC22A15', 'score': 5.36}, {'connected_gene': 'ENSG00000237993', 'score': 0.44}, {'connected_gene': 'MAB21L3', 'score': 0.25}]
chr1 GH01I116029 116029611 116038735 0.46 [{'connected_gene': 'CASQ2', 'score': 9.45}, {'connected_gene': 'SLC22A15', 'score': 6.34}, {'connected_gene': 'MAB21L3', 'score': 5.19}, {'connected_gene': 'ENSG00000237993', 'score': 0.37}]
chr1 GH01I115552 115552209 115555011 0.2 [{'connected_gene': 'VANGL1', 'score': 21.23}, {'connected_gene': 'CASQ2', 'score': 4.24}, {'connected_gene': 'MAB21L3', 'score': 4.05}, {'connected_gene': 'ELOCP20', 'score': 0.77}, {'connected_gene': 'PIR61717', 'score': 0.31}]
chr1 GH01I115980 115980643 115984096 0.72 [{'connected_gene': 'SLC22A15', 'score': 20.74}, {'connected_gene': 'ENSG00000237993', 'score': 10.5}, {'connected_gene': 'CASQ2', 'score': 9.87}, {'connected_gene': 'MAB21L3', 'score': 5.09}, {'connected_gene': 'LOC101928977', 'score': 0.44}]
chr1 GH01I115986 115986266 115989706 0.52 [{'connected_gene': 'SLC22A15', 'score': 20.73}, {'connected_gene': 'ENSG00000237993', 'score': 11.96}, {'connected_gene': 'CASQ2', 'score': 10.03}, {'connected_gene': 'ENSG00000207502', 'score': 9.93}, {'connected_gene': 'MAB21L3', 'score': 5.09}, {'connected_gene': 'LOC101928977', 'score': 0.39}]
chr1 GH01I115991 115991085 115995993 0.31 [{'connected_gene': 'SLC22A15', 'score': 20.74}, {'connected_gene': 'ENSG00000237993', 'score': 12.2}, {'connected_gene': 'NHLH2', 'score': 11.05}, {'connected_gene': 'CASQ2', 'score': 10.03}, {'connected_gene': 'MAB21L3', 'score': 5.1}, {'connected_gene': 'LOC101928977', 'score': 0.37}]
chr1 GH01I116115 116115078 116116596 0.43 [{'connected_gene': 'SLC22A15', 'score': 12.3}, {'connected_gene': 'IGSF3', 'score': 4.68}, {'connected_gene': 'LOC105378918', 'score': 0.44}, {'connected_gene': 'GC01P116110', 'score': 0.44}, {'connected_gene': 'MAB21L3', 'score': 0.26}]
chr1 GH01I116006 116002900 116003049 0.4 [{'connected_gene': 'SLC22A15', 'score': 11.28}, {'connected_gene': 'MAB21L3', 'score': 5.12}, {'connected_gene': 'ENSG00000237993', 'score': 0.39}, {'connected_gene': 'LOC101928977', 'score': 0.31}]
chr1 GH01I116066 116066136 116068889 0.64 [{'connected_gene': 'SLC22A15', 'score': 6.57}, {'connected_gene': 'MAB21L3', 'score': 0.44}, {'connected_gene': 'GC01M116040', 'score': 0.29}, {'connected_gene': 'ENSG00000237993', 'score': 0.25}]
chr1 GH01I116021 116021246 116023354 0.31 [{'connected_gene': 'SLC22A15', 'score': 20.55}, {'connected_gene': 'ENSG00000237993', 'score': 0.77}, {'connected_gene': 'MAB21L3', 'score': 0.23}]
chr1 GH01I116131 116131996 116132906 0.79 [{'connected_gene': 'SLC22A15', 'score': 5.13}, {'connected_gene': 'LOC105378918', 'score': 0.44}, {'connected_gene': 'LINC01779', 'score': 0.29}, {'connected_gene': 'MAB21L3', 'score': 0.22}]
chr1 GH01I115975 115975601 115979359 2.49 [{'connected_gene': 'SLC22A15', 'score': 576.99}, {'connected_gene': 'LOC101928977', 'score': 550.77}, {'connected_gene': 'ATP1A1-AS1', 'score': 18.84}, {'connected_gene': 'ENSG00000237993', 'score': 10.86}, {'connected_gene': 'CASQ2', 'score': 10.42}, {'connected_gene': 'MAB21L3', 'score': 5.08}, {'connected_gene': 'IGSF3', 'score': 4.63}, {'connected_gene': 'ATP1A1', 'score': 2.6}]
chr1 GH01I116138 116138782 116139789 1.22 [{'connected_gene': 'ATP1A1', 'score': 10.82}, {'connected_gene': 'SLC22A15', 'score': 5.61}, {'connected_gene': 'MAB21L3', 'score': 5.09}, {'connected_gene': 'LOC105378918', 'score': 0.37}, {'connected_gene': 'LINC01779', 'score': 0.34}]
chr1 GH01I116147 116147814 116148623 0.2 [{'connected_gene': 'MAB21L3', 'score': 5.56}, {'connected_gene': 'CD58', 'score': 4.96}, {'connected_gene': 'SLC22A15', 'score': 4.51}, {'connected_gene': 'LINC01779', 'score': 0.37}, {'connected_gene': 'LOC105378918', 'score': 0.34}]
chr1 GH01I116150 116150820 116153849 1.22 [{'connected_gene': 'MAB21L3', 'score': 6.98}, {'connected_gene': 'SLC22A15', 'score': 5.19}, {'connected_gene': 'ATP1A1', 'score': 4.63}, {'connected_gene': 'LINC01779', 'score': 0.39}, {'connected_gene': 'LOC105378918', 'score': 0.31}]
chr1 GH01I116076 116076100 116076249 0.46 [{'connected_gene': 'MAB21L3', 'score': 550.77}, {'connected_gene': 'GC01M116040', 'score': 0.34}]
chr1 GH01I116122 116122598 116123483 0.9 [{'connected_gene': 'LOC105378918', 'score': 550.77}, {'connected_gene': 'ENSG00000237993', 'score': 9.61}, {'connected_gene': 'TTF2', 'score': 5.48}, {'connected_gene': 'GC01P116110', 'score': 0.39}, {'connected_gene': 'MAB21L3', 'score': 0.25}]
chr1 GH01I116123 116123920 116124052 0.31 [{'connected_gene': 'LOC105378918', 'score': 550.77}, {'connected_gene': 'ENSG00000237993', 'score': 9.61}, {'connected_gene': 'SLC22A15', 'score': 4.33}, {'connected_gene': 'GC01P116110', 'score': 0.39}, {'connected_gene': 'MAB21L3', 'score': 0.25}]
chr1 GH01I116109 116109553 116112995 1.6 [{'connected_gene': 'GC01P116110', 'score': 550.77}, {'connected_gene': 'MAB21L3', 'score': 550.28}, {'connected_gene': 'CD58', 'score': 5.15}, {'connected_gene': 'IGSF3', 'score': 4.77}, {'connected_gene': 'LOC105378918', 'score': 0.39}]
chr1 GH01I116018 116018676 116020450 0.38 [{'connected_gene': 'ENSG00000237993', 'score': 550.77}, {'connected_gene': 'MAB21L3', 'score': 5.14}, {'connected_gene': 'SLC22A15', 'score': 4.6}]