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
ENST00000328379 [[25012602, 25013450], [25015994, 25016251]] [[25013279, 25013450], [25015994, 25016246]]
ENST00000480190 [[25013073, 25013450], [25015252, 25015453], [25015635, 25015922]] None
ENST00000467797 [[25013131, 25013450], [25014370, 25014475]] None
ENST00000474668 [[25013134, 25013450], [25015635, 25015943]] None
ENST00000487316 [[25013143, 25013450], [25015252, 25015959]] None
ENST00000492046 [[25015302, 25015453], [25015554, 25015944]] None
NM_001013663 [[25013135, 25013450], [25015994, 25016251]] [[25013279, 25013450], [25015994, 25016246]]
Promoter
Chrom Start End Description
chr2 25015884 25015898 CAGE_peak_5_at_PTRHD1_5end
chr2 25015922 25015974 CAGE_peak_3_at_PTRHD1_5end
chr2 25016207 25016236 CAGE_peak_1_at_PTRHD1_5end
chr2 25016254 25016264 CAGE_peak_2_at_PTRHD1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I024719 24719026 24719378 0.27 [{'connected_gene': 'NCOA1', 'score': 13.55}, {'connected_gene': 'PTRHD1', 'score': 11.5}, {'connected_gene': 'CENPO', 'score': 11.5}, {'connected_gene': 'RPS13P5', 'score': 9.65}, {'connected_gene': 'ENSG00000202479', 'score': 9.65}, {'connected_gene': 'DNAJC27-AS1', 'score': 9.65}, {'connected_gene': 'DNAJC27', 'score': 9.65}, {'connected_gene': 'RNU6-936P', 'score': 0.26}, {'connected_gene': 'LOC105369164', 'score': 0.19}]
chr2 GH02I024452 24452201 24453000 0.2 [{'connected_gene': 'NCOA1', 'score': 11.77}, {'connected_gene': 'PTRHD1', 'score': 10.4}, {'connected_gene': 'CENPO', 'score': 10.4}, {'connected_gene': 'PIR47381', 'score': 0.25}, {'connected_gene': 'GC02P023754', 'score': 0.02}]
chr2 GH02I024453 24453801 24454000 0.2 [{'connected_gene': 'NCOA1', 'score': 11.77}, {'connected_gene': 'PTRHD1', 'score': 10.4}, {'connected_gene': 'CENPO', 'score': 10.4}, {'connected_gene': 'PIR47381', 'score': 0.25}, {'connected_gene': 'GC02P023754', 'score': 0.02}]
chr2 GH02I024454 24454038 24455113 0.51 [{'connected_gene': 'NCOA1', 'score': 11.77}, {'connected_gene': 'PTRHD1', 'score': 10.4}, {'connected_gene': 'CENPO', 'score': 10.4}, {'connected_gene': 'PIR47381', 'score': 0.25}, {'connected_gene': 'GC02P023754', 'score': 0.02}]
chr2 GH02I024456 24456599 24457697 0.96 [{'connected_gene': 'NCOA1', 'score': 11.78}, {'connected_gene': 'PTRHD1', 'score': 10.4}, {'connected_gene': 'CENPO', 'score': 10.4}, {'connected_gene': 'PIR47381', 'score': 0.23}, {'connected_gene': 'GC02P023754', 'score': 0.03}]
chr2 GH02I024586 24586410 24591102 0.78 [{'connected_gene': 'NCOA1', 'score': 17.29}, {'connected_gene': 'PTRHD1', 'score': 10.7}, {'connected_gene': 'ATAD2B', 'score': 10.64}, {'connected_gene': 'ADCY3', 'score': 5.01}, {'connected_gene': 'GC02M024565', 'score': 0.34}, {'connected_gene': 'RNA5SP88', 'score': 0.34}, {'connected_gene': 'RNU6-936P', 'score': 0.17}]
chr2 GH02I024489 24489126 24494813 1.85 [{'connected_gene': 'NCOA1', 'score': 557.08}, {'connected_gene': 'PTRHD1', 'score': 9.79}, {'connected_gene': 'ADCY3', 'score': 6.22}, {'connected_gene': 'ITSN2', 'score': 3.6}, {'connected_gene': 'DNAJC27', 'score': 2.1}, {'connected_gene': 'GC02M024526', 'score': 0.29}]
chr2 GH02I024466 24466125 24468083 0.43 [{'connected_gene': 'NCOA1', 'score': 17.97}, {'connected_gene': 'PTRHD1', 'score': 11.62}, {'connected_gene': 'RNU6-936P', 'score': 10.38}, {'connected_gene': 'ITSN2', 'score': 9.57}, {'connected_gene': 'CENPO', 'score': 4.26}, {'connected_gene': 'PIR47381', 'score': 0.21}, {'connected_gene': 'GC02P023754', 'score': 0.03}]
chr2 GH02I024511 24511973 24513245 0.2 [{'connected_gene': 'NCOA1', 'score': 16.48}, {'connected_gene': 'PTRHD1', 'score': 11.29}, {'connected_gene': 'GC02M024526', 'score': 0.39}]
chr2 GH02I024806 24806625 24807057 0.84 [{'connected_gene': 'NCOA1', 'score': 17.12}, {'connected_gene': 'ADCY3', 'score': 10.07}, {'connected_gene': 'ITSN2', 'score': 9.64}, {'connected_gene': 'PTRHD1', 'score': 0.39}, {'connected_gene': 'PIR51987', 'score': 0.39}, {'connected_gene': 'CENPO', 'score': 0.39}]
chr2 GH02I024620 24620757 24622013 0.54 [{'connected_gene': 'NCOA1', 'score': 15.41}, {'connected_gene': 'RNU6-936P', 'score': 10.74}, {'connected_gene': 'ADCY3', 'score': 10.45}, {'connected_gene': 'PTRHD1', 'score': 9.99}, {'connected_gene': 'CENPO', 'score': 9.99}, {'connected_gene': 'GC02M024565', 'score': 0.22}, {'connected_gene': 'RNA5SP88', 'score': 0.22}]
chr2 GH02I024409 24409028 24411889 0.97 [{'connected_gene': 'FAM228A', 'score': 11.96}, {'connected_gene': 'ITSN2', 'score': 10.96}, {'connected_gene': 'PTRHD1', 'score': 10.74}, {'connected_gene': 'CENPO', 'score': 10.74}, {'connected_gene': 'NCOA1', 'score': 10.69}, {'connected_gene': 'ADCY3', 'score': 10.23}, {'connected_gene': 'RPS13P5', 'score': 9.89}, {'connected_gene': 'ENSG00000202479', 'score': 9.89}, {'connected_gene': 'DNAJC27-AS1', 'score': 9.89}, {'connected_gene': 'DNAJC27', 'score': 9.89}, {'connected_gene': 'PIR47381', 'score': 0.44}, {'connected_gene': 'LOC105374329', 'score': 0.44}, {'connected_gene': 'GC02P023754', 'score': 0.03}]
chr2 GH02I024805 24805932 24806081 0.94 [{'connected_gene': 'ATAD2B', 'score': 10.64}, {'connected_gene': 'NCOA1', 'score': 10.14}, {'connected_gene': 'ADCY3', 'score': 10.07}, {'connected_gene': 'ITSN2', 'score': 9.64}, {'connected_gene': 'POMC', 'score': 4.68}, {'connected_gene': 'PTRHD1', 'score': 0.39}, {'connected_gene': 'PIR51987', 'score': 0.39}, {'connected_gene': 'CENPO', 'score': 0.39}]
chr2 GH02I024970 24970449 24974021 2.3 [{'connected_gene': 'DNAJC27', 'score': 557.15}, {'connected_gene': 'DNAJC27-AS1', 'score': 550.77}, {'connected_gene': 'ADCY3', 'score': 37.72}, {'connected_gene': 'ASXL2', 'score': 14.78}, {'connected_gene': 'WDCP', 'score': 11.46}, {'connected_gene': 'EFR3B', 'score': 11.4}, {'connected_gene': 'LINC01381', 'score': 11.08}, {'connected_gene': 'POMC', 'score': 10.81}, {'connected_gene': 'PTRHD1', 'score': 6.48}, {'connected_gene': 'ENSG00000207069', 'score': 0.28}, {'connected_gene': 'GC02M025008', 'score': 0.28}]
chr2 GH02I024400 24399510 24399601 0.62 [{'connected_gene': 'ITSN2', 'score': 11.27}, {'connected_gene': 'NCOA1', 'score': 10.44}, {'connected_gene': 'PTRHD1', 'score': 10.07}, {'connected_gene': 'CENPO', 'score': 10.07}, {'connected_gene': 'DNAJC27-AS1', 'score': 9.84}, {'connected_gene': 'DNAJC27', 'score': 9.84}, {'connected_gene': 'RPS13P5', 'score': 9.84}, {'connected_gene': 'ENSG00000202479', 'score': 9.84}, {'connected_gene': 'UBXN2A', 'score': 9.37}, {'connected_gene': 'ATAD2B', 'score': 9.37}, {'connected_gene': 'LOC105374329', 'score': 0.77}, {'connected_gene': 'GC02P023754', 'score': 0.03}]
chr2 GH02I024399 24399793 24400440 0.62 [{'connected_gene': 'ITSN2', 'score': 11.27}, {'connected_gene': 'NCOA1', 'score': 10.44}, {'connected_gene': 'PTRHD1', 'score': 10.07}, {'connected_gene': 'CENPO', 'score': 10.07}, {'connected_gene': 'DNAJC27-AS1', 'score': 9.84}, {'connected_gene': 'DNAJC27', 'score': 9.84}, {'connected_gene': 'RPS13P5', 'score': 9.84}, {'connected_gene': 'ENSG00000202479', 'score': 9.84}, {'connected_gene': 'UBXN2A', 'score': 9.37}, {'connected_gene': 'ATAD2B', 'score': 9.37}, {'connected_gene': 'LOC105374329', 'score': 0.77}, {'connected_gene': 'GC02P023754', 'score': 0.03}]
chr2 GH02I024720 24720406 24723682 0.96 [{'connected_gene': 'PTRHD1', 'score': 25.04}, {'connected_gene': 'NCOA1', 'score': 16.58}, {'connected_gene': 'CENPO', 'score': 11.5}, {'connected_gene': 'DNAJC27', 'score': 9.65}, {'connected_gene': 'RPS13P5', 'score': 9.65}, {'connected_gene': 'ENSG00000202479', 'score': 9.65}, {'connected_gene': 'DNAJC27-AS1', 'score': 9.65}, {'connected_gene': 'ADCY3', 'score': 4.77}, {'connected_gene': 'RNU6-936P', 'score': 0.25}, {'connected_gene': 'LOC105369164', 'score': 0.19}]
chr2 GH02I024770 24770995 24772861 0.69 [{'connected_gene': 'PTRHD1', 'score': 25.95}, {'connected_gene': 'NCOA1', 'score': 17.73}, {'connected_gene': 'CENPO', 'score': 11.72}, {'connected_gene': 'RNU6-936P', 'score': 10.86}, {'connected_gene': 'LOC105369164', 'score': 0.34}]
chr2 GH02I024816 24816312 24818128 0.99 [{'connected_gene': 'PTRHD1', 'score': 21.89}, {'connected_gene': 'CENPO', 'score': 20.27}, {'connected_gene': 'ADCY3', 'score': 8.2}, {'connected_gene': 'NCOA1', 'score': 5.93}, {'connected_gene': 'POMC', 'score': 4.51}, {'connected_gene': 'PIR51987', 'score': 0.77}]
chr2 GH02I024482 24482196 24483248 1.28 [{'connected_gene': 'PTRHD1', 'score': 10.15}, {'connected_gene': 'CENPO', 'score': 10.15}, {'connected_gene': 'RNU6-936P', 'score': 9.79}, {'connected_gene': 'ITSN2', 'score': 3.12}, {'connected_gene': 'NCOA1', 'score': 0.44}, {'connected_gene': 'PIR47381', 'score': 0.18}, {'connected_gene': 'GC02P023754', 'score': 0.03}]
chr2 GH02I024791 24791001 24795826 2.5 [{'connected_gene': 'PTRHD1', 'score': 557.21}, {'connected_gene': 'CENPO', 'score': 556.08}, {'connected_gene': 'LOC105369164', 'score': 550.77}, {'connected_gene': 'ATAD2B', 'score': 23.64}, {'connected_gene': 'DNMT3A', 'score': 14.01}, {'connected_gene': 'ITSN2', 'score': 13.63}, {'connected_gene': 'WDCP', 'score': 11.15}, {'connected_gene': 'FAM228B', 'score': 10.41}, {'connected_gene': 'ADCY3', 'score': 9.13}, {'connected_gene': 'NCOA1', 'score': 7.68}, {'connected_gene': 'PIR51987', 'score': 0.31}]
chr2 GH02I024738 24738600 24740760 0.46 [{'connected_gene': 'PTRHD1', 'score': 12.34}, {'connected_gene': 'RNU6-936P', 'score': 11.1}, {'connected_gene': 'NCOA1', 'score': 7.09}, {'connected_gene': 'CENPO', 'score': 4.5}, {'connected_gene': 'LOC105369164', 'score': 0.23}]
chr2 GH02I024652 24652801 24653200 0.43 [{'connected_gene': 'PTRHD1', 'score': 11.32}, {'connected_gene': 'RNU6-936P', 'score': 0.34}, {'connected_gene': 'GC02M024565', 'score': 0.17}, {'connected_gene': 'RNA5SP88', 'score': 0.17}, {'connected_gene': 'NCOA1', 'score': 0.1}]
chr2 GH02I024885 24885001 24887799 1 [{'connected_gene': 'ADCY3', 'score': 65.37}, {'connected_gene': 'DNAJC27', 'score': 12.39}, {'connected_gene': 'RPS13P5', 'score': 10.69}, {'connected_gene': 'ENSG00000202479', 'score': 10.69}, {'connected_gene': 'DNAJC27-AS1', 'score': 10.69}, {'connected_gene': 'PTRHD1', 'score': 4.73}, {'connected_gene': 'LOC105377626', 'score': 0.23}]
chr2 GH02I024877 24877130 24880045 0.56 [{'connected_gene': 'ADCY3', 'score': 55.9}, {'connected_gene': 'PTRHD1', 'score': 4.12}, {'connected_gene': 'LOC105377626', 'score': 0.26}]
chr2 GH02I024710 24710808 24712618 0.31 [{'connected_gene': 'RNU6-936P', 'score': 11.95}, {'connected_gene': 'PTRHD1', 'score': 10.87}, {'connected_gene': 'ITSN2', 'score': 9.81}, {'connected_gene': 'NCOA1', 'score': 5.45}, {'connected_gene': 'LOC105369164', 'score': 0.18}]
chr2 GH02I024827 24826905 24828807 1.04 [{'connected_gene': 'PIR41872', 'score': 550.77}, {'connected_gene': 'PIR40963', 'score': 550.77}, {'connected_gene': 'NCOA1', 'score': 17.94}, {'connected_gene': 'ADCY3', 'score': 11.25}, {'connected_gene': 'PTRHD1', 'score': 11.18}, {'connected_gene': 'CENPO', 'score': 11.18}, {'connected_gene': 'RPS13P5', 'score': 10.16}, {'connected_gene': 'ENSG00000202479', 'score': 10.16}, {'connected_gene': 'DNAJC27-AS1', 'score': 10.16}, {'connected_gene': 'DNAJC27', 'score': 10.16}, {'connected_gene': 'ITSN2', 'score': 9.73}, {'connected_gene': 'ENSG00000242628', 'score': 9.6}]
chr2 GH02I024818 24818537 24819193 0.56 [{'connected_gene': 'PIR51987', 'score': 550.77}, {'connected_gene': 'PTRHD1', 'score': 20.82}, {'connected_gene': 'ADCY3', 'score': 19.45}, {'connected_gene': 'NCOA1', 'score': 16.44}, {'connected_gene': 'CENPO', 'score': 11.55}]
chr2 GH02I024820 24820665 24822742 0.52 [{'connected_gene': 'PIR60930', 'score': 550.77}, {'connected_gene': 'GC02P024831', 'score': 550.77}, {'connected_gene': 'GC02P024832', 'score': 550.77}, {'connected_gene': 'PIR51713', 'score': 550.77}, {'connected_gene': 'PIR50214', 'score': 550.77}, {'connected_gene': 'GC02P024830', 'score': 550.77}, {'connected_gene': 'PIR33386', 'score': 550.77}, {'connected_gene': 'PIR51987', 'score': 550.77}, {'connected_gene': 'ADCY3', 'score': 17.58}, {'connected_gene': 'CENPO', 'score': 17.22}, {'connected_gene': 'PTRHD1', 'score': 11.55}, {'connected_gene': 'NCOA1', 'score': 10.87}, {'connected_gene': 'ENSG00000202479', 'score': 10.16}, {'connected_gene': 'DNAJC27-AS1', 'score': 10.16}, {'connected_gene': 'RPS13P5', 'score': 10.16}, {'connected_gene': 'DNAJC27', 'score': 10.15}, {'connected_gene': 'ITSN2', 'score': 9.73}, {'connected_gene': 'ENSG00000242628', 'score': 9.6}]
chr2 GH02I024826 24826172 24826321 0.38 [{'connected_gene': 'ENSG00000271936', 'score': 550.77}, {'connected_gene': 'PIR41872', 'score': 550.77}, {'connected_gene': 'PIR40963', 'score': 550.77}, {'connected_gene': 'ADCY3', 'score': 11.25}, {'connected_gene': 'PTRHD1', 'score': 11.18}, {'connected_gene': 'CENPO', 'score': 11.18}, {'connected_gene': 'NCOA1', 'score': 10.88}, {'connected_gene': 'DNAJC27-AS1', 'score': 10.16}, {'connected_gene': 'DNAJC27', 'score': 10.16}, {'connected_gene': 'RPS13P5', 'score': 10.16}, {'connected_gene': 'ENSG00000202479', 'score': 10.16}, {'connected_gene': 'ITSN2', 'score': 9.73}, {'connected_gene': 'ENSG00000242628', 'score': 9.6}]
chr2 GH02I024828 24826512 24826681 0.43 [{'connected_gene': 'ENSG00000271936', 'score': 550.77}, {'connected_gene': 'PIR41872', 'score': 550.77}, {'connected_gene': 'PIR40963', 'score': 550.77}, {'connected_gene': 'ADCY3', 'score': 11.25}, {'connected_gene': 'PTRHD1', 'score': 11.18}, {'connected_gene': 'CENPO', 'score': 11.18}, {'connected_gene': 'NCOA1', 'score': 10.88}, {'connected_gene': 'DNAJC27', 'score': 10.16}, {'connected_gene': 'RPS13P5', 'score': 10.16}, {'connected_gene': 'ENSG00000202479', 'score': 10.16}, {'connected_gene': 'DNAJC27-AS1', 'score': 10.16}, {'connected_gene': 'ITSN2', 'score': 9.73}, {'connected_gene': 'ENSG00000242628', 'score': 9.6}, {'connected_gene': 'POMC', 'score': 4.67}]
chr2 GH02I025214 25214708 25217200 1.35 [{'connected_gene': 'GC02P025214', 'score': 550.77}, {'connected_gene': 'ADCY3', 'score': 1.83}, {'connected_gene': 'PTRHD1', 'score': 1.64}, {'connected_gene': 'PIR34629', 'score': 0.37}, {'connected_gene': 'GC02M025233', 'score': 0.37}, {'connected_gene': 'GC02M025128', 'score': 0.26}]
chr2 GH02I024402 24402601 24403199 0.52 [{'connected_gene': 'PIR47381', 'score': 550.77}, {'connected_gene': 'LOC105374329', 'score': 550.77}, {'connected_gene': 'LOC105374328', 'score': 15.58}, {'connected_gene': 'ITSN2', 'score': 10.98}, {'connected_gene': 'PTRHD1', 'score': 10.47}, {'connected_gene': 'CENPO', 'score': 10.47}, {'connected_gene': 'NCOA1', 'score': 10.32}, {'connected_gene': 'ADCY3', 'score': 10.1}, {'connected_gene': 'RPS13P5', 'score': 9.41}, {'connected_gene': 'ENSG00000202479', 'score': 9.41}, {'connected_gene': 'DNAJC27-AS1', 'score': 9.41}, {'connected_gene': 'DNAJC27', 'score': 9.41}, {'connected_gene': 'GC02P023754', 'score': 0.03}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.