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
ENST00000257181 [[52870235, 52870551], [52871351, 52871511], [52874240, 52874362], [52876786, 52876872], [52878185, 52878296], [52879550, 52879663], [52880292, 52880319], [52880433, 52880531], [52881009, 52881058], [52882319, 52886511]] [[52870421, 52870551], [52871351, 52871511], [52874240, 52874362], [52876786, 52876872], [52878185, 52878296], [52879550, 52879663], [52880292, 52880319], [52880433, 52880531], [52881009, 52881058], [52882319, 52882362]]
ENST00000487160 [[52870291, 52870551], [52871351, 52871511], [52874240, 52874746]] None
ENST00000474048 [[52870299, 52870551], [52871351, 52871385], [52878185, 52878296], [52879550, 52879663], [52880292, 52880319], [52880433, 52880531], [52881009, 52881058], [52882319, 52882694]] None
NM_032864 [[52870218, 52870551], [52871351, 52871511], [52874240, 52874362], [52876786, 52876872], [52878185, 52878296], [52879550, 52879663], [52880292, 52880319], [52880433, 52880531], [52881009, 52881058], [52882319, 52883992]] [[52870421, 52870551], [52871351, 52871511], [52874240, 52874362], [52876786, 52876872], [52878185, 52878296], [52879550, 52879663], [52880292, 52880319], [52880433, 52880531], [52881009, 52881058], [52882319, 52882362]]
Promoter
Chrom Start End Description
chr1 52870213 52870224 CAGE_peak_3_at_PRPF38A_5end
chr1 52870227 52870243 CAGE_peak_2_at_PRPF38A_5end
chr1 52870263 52870294 CAGE_peak_1_at_PRPF38A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I052138 52138808 52143600 2.24 [{'connected_gene': 'ZFYVE9', 'score': 550.77}, {'connected_gene': 'PRPF38A', 'score': 23.99}, {'connected_gene': 'ZCCHC11', 'score': 16.13}, {'connected_gene': 'RPS13P2', 'score': 12.14}, {'connected_gene': 'ENSG00000230953', 'score': 11.32}, {'connected_gene': 'ENSG00000266993', 'score': 10.64}, {'connected_gene': 'PODN', 'score': 10.4}, {'connected_gene': 'CC2D1B', 'score': 9.26}, {'connected_gene': 'LOC100190934', 'score': 8.97}, {'connected_gene': 'GPX7', 'score': 8.73}, {'connected_gene': 'TXNDC12', 'score': 5.71}, {'connected_gene': 'PIR34571', 'score': 0.23}]
chr1 GH01I051736 51736601 51737235 1.04 [{'connected_gene': 'PRPF38A', 'score': 12.72}, {'connected_gene': 'NRDC', 'score': 10.59}, {'connected_gene': 'GC01P051733', 'score': 0.44}, {'connected_gene': 'ENSG00000266993', 'score': 0.22}, {'connected_gene': 'OSBPL9', 'score': 0.1}]
chr1 GH01I051422 51422089 51422278 0.8 [{'connected_gene': 'PRPF38A', 'score': 12.86}, {'connected_gene': 'ENSG00000238140', 'score': 11.64}, {'connected_gene': 'EPS15', 'score': 11.52}, {'connected_gene': 'RNU6-877P', 'score': 11.07}, {'connected_gene': 'ENSG00000227070', 'score': 10.83}, {'connected_gene': 'TTC39A', 'score': 10.58}, {'connected_gene': 'GC01P051412', 'score': 0.44}, {'connected_gene': 'GC01M051449', 'score': 0.31}, {'connected_gene': 'GC01M051448', 'score': 0.31}]
chr1 GH01I052402 52402662 52405901 2.28 [{'connected_gene': 'PRPF38A', 'score': 561.31}, {'connected_gene': 'ORC1', 'score': 550.77}, {'connected_gene': 'MAGOH', 'score': 24.31}, {'connected_gene': 'KTI12', 'score': 17.91}, {'connected_gene': 'ENSG00000266993', 'score': 15.12}, {'connected_gene': 'TXNDC12', 'score': 11.2}, {'connected_gene': 'PLA2G12AP1', 'score': 0.28}]
chr1 GH01I052406 52406801 52407000 0.2 [{'connected_gene': 'PRPF38A', 'score': 0.77}, {'connected_gene': 'GC01M052527', 'score': 0.13}]
chr1 GH01I052725 52725800 52728001 2.04 [{'connected_gene': 'ZYG11B', 'score': 560.96}, {'connected_gene': 'PRPF38A', 'score': 19.43}, {'connected_gene': 'ORC1', 'score': 17.08}, {'connected_gene': 'MAGOH', 'score': 13.86}, {'connected_gene': 'RPS13P2', 'score': 12.36}, {'connected_gene': 'ECHDC2', 'score': 11.64}, {'connected_gene': 'ENSG00000230953', 'score': 11.38}, {'connected_gene': 'ENSG00000266993', 'score': 10.61}, {'connected_gene': 'ZYG11A', 'score': 4.32}, {'connected_gene': 'GC01P052729', 'score': 0.77}]
chr1 GH01I053324 53324026 53328642 2.25 [{'connected_gene': 'LRP8', 'score': 556.28}, {'connected_gene': 'LINC01771', 'score': 550.77}, {'connected_gene': 'MAGOH', 'score': 23.78}, {'connected_gene': 'PRPF38A', 'score': 11.76}, {'connected_gene': 'RPS13P2', 'score': 11.24}, {'connected_gene': 'LRRC42', 'score': 10.9}, {'connected_gene': 'SSBP3-AS1', 'score': 10.84}, {'connected_gene': 'GPX7', 'score': 10.45}, {'connected_gene': 'C1orf123', 'score': 4.86}, {'connected_gene': 'GC01M053305', 'score': 0.37}]
chr1 GH01I052697 52697047 52699251 2.09 [{'connected_gene': 'COA7', 'score': 560.38}, {'connected_gene': 'GC01P052696', 'score': 550.77}, {'connected_gene': 'ZCCHC11', 'score': 28.3}, {'connected_gene': 'MAGOH', 'score': 27.35}, {'connected_gene': 'KTI12', 'score': 13.89}, {'connected_gene': 'PRPF38A', 'score': 12.98}, {'connected_gene': 'ENSG00000230953', 'score': 12.3}, {'connected_gene': 'ENSG00000272100', 'score': 12.0}, {'connected_gene': 'ENSG00000266993', 'score': 11.53}, {'connected_gene': 'ZFYVE9', 'score': 11.42}, {'connected_gene': 'ORC1', 'score': 10.83}, {'connected_gene': 'ZYG11B', 'score': 10.11}, {'connected_gene': 'ECHDC2', 'score': 9.97}]
chr1 GH01I052574 52574326 52575338 0.72 [{'connected_gene': 'EEF1GP7', 'score': 550.77}, {'connected_gene': 'CC2D1B', 'score': 16.48}, {'connected_gene': 'GPX7', 'score': 12.5}, {'connected_gene': 'ZCCHC11', 'score': 12.42}, {'connected_gene': 'PRPF38A', 'score': 10.5}]
chr1 GH01I053218 53218964 53221528 2.09 [{'connected_gene': 'C1orf123', 'score': 582.32}, {'connected_gene': 'GC01M053219', 'score': 550.77}, {'connected_gene': 'PIR31553', 'score': 550.77}, {'connected_gene': 'ENSG00000259818', 'score': 550.77}, {'connected_gene': 'PRPF38A', 'score': 13.99}, {'connected_gene': 'ENSG00000236723', 'score': 0.44}]
chr1 GH01I051874 51874801 51880132 2.56 [{'connected_gene': 'NRDC', 'score': 561.05}, {'connected_gene': 'ENSG00000266993', 'score': 63.03}, {'connected_gene': 'ZCCHC11', 'score': 52.1}, {'connected_gene': 'PRPF38A', 'score': 23.07}, {'connected_gene': 'CC2D1B', 'score': 14.37}, {'connected_gene': 'ZFYVE9', 'score': 13.19}, {'connected_gene': 'LINC01562', 'score': 12.69}, {'connected_gene': 'TXNDC12', 'score': 11.24}, {'connected_gene': 'RPS13P2', 'score': 10.09}, {'connected_gene': 'KTI12', 'score': 9.84}, {'connected_gene': 'GPX7', 'score': 9.83}, {'connected_gene': 'OSBPL9', 'score': 1.69}, {'connected_gene': 'GC01P051865', 'score': 0.39}]
chr1 GH01I052842 52842149 52845519 2.04 [{'connected_gene': 'ZYG11A', 'score': 550.77}, {'connected_gene': 'ECHDC2', 'score': 13.43}, {'connected_gene': 'PRPF38A', 'score': 12.97}, {'connected_gene': 'MAGOH', 'score': 12.18}, {'connected_gene': 'ENSG00000272100', 'score': 11.99}, {'connected_gene': 'ZFYVE9', 'score': 11.42}, {'connected_gene': 'ZYG11B', 'score': 11.22}, {'connected_gene': 'ZCCHC11', 'score': 10.51}, {'connected_gene': 'KTI12', 'score': 9.81}, {'connected_gene': 'PIR36649', 'score': 0.39}]
chr1 GH01I052658 52658849 52658998 0.77 [{'connected_gene': 'MAGOH', 'score': 16.07}, {'connected_gene': 'PRPF38A', 'score': 14.03}, {'connected_gene': 'RPS13P2', 'score': 10.38}, {'connected_gene': 'ENSG00000230953', 'score': 10.25}, {'connected_gene': 'PODN', 'score': 10.14}, {'connected_gene': 'PIR34624', 'score': 0.37}, {'connected_gene': 'GC01P052637', 'score': 0.34}, {'connected_gene': 'SHISAL2A', 'score': 0.31}]
chr1 GH01I052659 52659066 52660664 0.93 [{'connected_gene': 'MAGOH', 'score': 16.07}, {'connected_gene': 'PRPF38A', 'score': 14.04}, {'connected_gene': 'GPX7', 'score': 11.09}, {'connected_gene': 'ZCCHC11', 'score': 11.04}, {'connected_gene': 'RPS13P2', 'score': 10.38}, {'connected_gene': 'ENSG00000230953', 'score': 10.25}, {'connected_gene': 'PODN', 'score': 10.14}, {'connected_gene': 'ZYG11B', 'score': 5.63}, {'connected_gene': 'PIR34624', 'score': 0.37}, {'connected_gene': 'GC01P052637', 'score': 0.34}, {'connected_gene': 'SHISAL2A', 'score': 0.31}]
chr1 GH01I052955 52955130 52956138 0.94 [{'connected_gene': 'MAGOH', 'score': 21.05}, {'connected_gene': 'ZCCHC11', 'score': 14.9}, {'connected_gene': 'LRRC42', 'score': 11.65}, {'connected_gene': 'HSPB11', 'score': 10.64}, {'connected_gene': 'PODN', 'score': 10.51}, {'connected_gene': 'PRPF38A', 'score': 10.09}, {'connected_gene': 'ENSG00000272100', 'score': 10.07}, {'connected_gene': 'ENSG00000237279', 'score': 0.39}, {'connected_gene': 'SCP2', 'score': 0.31}, {'connected_gene': 'LOC100133211', 'score': 0.28}]
chr1 GH01I052631 52631305 52639399 2.63 [{'connected_gene': 'SHISAL2A', 'score': 557.17}, {'connected_gene': 'ZCCHC11', 'score': 29.15}, {'connected_gene': 'GPX7', 'score': 26.89}, {'connected_gene': 'MAGOH', 'score': 14.62}, {'connected_gene': 'PRPF38A', 'score': 13.33}, {'connected_gene': 'ENSG00000230953', 'score': 12.29}, {'connected_gene': 'ENSG00000272100', 'score': 12.01}, {'connected_gene': 'CC2D1B', 'score': 11.66}, {'connected_gene': 'ENSG00000266993', 'score': 11.43}, {'connected_gene': 'ORC1', 'score': 10.75}, {'connected_gene': 'ECHDC2', 'score': 9.95}, {'connected_gene': 'RPS13P2', 'score': 9.84}, {'connected_gene': 'GC01P052637', 'score': 0.77}]
chr1 GH01I052653 52653159 52654829 0.59 [{'connected_gene': 'GPX7', 'score': 11.44}, {'connected_gene': 'PRPF38A', 'score': 9.91}, {'connected_gene': 'COA7', 'score': 5.15}, {'connected_gene': 'GC01P052637', 'score': 0.37}, {'connected_gene': 'SHISAL2A', 'score': 0.34}, {'connected_gene': 'PIR34624', 'score': 0.34}]
chr1 GH01I052569 52569201 52570200 0.74 [{'connected_gene': 'GPX7', 'score': 11.31}, {'connected_gene': 'PRPF38A', 'score': 9.99}, {'connected_gene': 'EEF1GP7', 'score': 0.77}, {'connected_gene': 'GC01P052561', 'score': 0.44}]
chr1 GH01I052640 52640544 52641770 1 [{'connected_gene': 'GPX7', 'score': 11.4}, {'connected_gene': 'SHISAL2A', 'score': 4.01}, {'connected_gene': 'ZCCHC11', 'score': 1.68}, {'connected_gene': 'PRPF38A', 'score': 1.58}, {'connected_gene': 'CC2D1B', 'score': 1.24}, {'connected_gene': 'GC01P052637', 'score': 0.77}, {'connected_gene': 'PIR34624', 'score': 0.29}]
chr1 GH01I051647 51647076 51650507 1.16 [{'connected_gene': 'ZCCHC11', 'score': 12.72}, {'connected_gene': 'PRPF38A', 'score': 12.43}, {'connected_gene': 'ENSG00000272100', 'score': 11.96}, {'connected_gene': 'OSBPL9', 'score': 10.88}, {'connected_gene': 'ENSG00000212624', 'score': 10.87}, {'connected_gene': 'RNU6-877P', 'score': 9.77}, {'connected_gene': 'NRDC', 'score': 4.74}, {'connected_gene': 'ENSG00000266993', 'score': 4.33}, {'connected_gene': 'LOC105378719', 'score': 0.34}, {'connected_gene': 'GAPDHP51', 'score': 0.22}]
chr1 GH01I051737 51737801 51738000 0.64 [{'connected_gene': 'ZCCHC11', 'score': 23.38}, {'connected_gene': 'ENSG00000266993', 'score': 10.24}, {'connected_gene': 'PRPF38A', 'score': 10.09}, {'connected_gene': 'ENSG00000272100', 'score': 10.07}, {'connected_gene': 'GC01P051733', 'score': 0.44}, {'connected_gene': 'OSBPL9', 'score': 0.1}]
chr1 GH01I052419 52419672 52420065 0.44 [{'connected_gene': 'ZCCHC11', 'score': 1.59}, {'connected_gene': 'PRPF38A', 'score': 0.37}, {'connected_gene': 'GC01M052527', 'score': 0.14}]
chr1 GH01I051940 51940416 51943018 0.31 [{'connected_gene': 'ZCCHC11', 'score': 17.83}, {'connected_gene': 'RAB3B', 'score': 17.79}, {'connected_gene': 'NRDC', 'score': 16.58}, {'connected_gene': 'PRPF38A', 'score': 12.45}, {'connected_gene': 'ENSG00000272100', 'score': 11.98}, {'connected_gene': 'ECHDC2', 'score': 10.04}, {'connected_gene': 'CC2D1B', 'score': 5.73}, {'connected_gene': 'LOC100190934', 'score': 4.98}, {'connected_gene': 'GC01P051974', 'score': 0.29}, {'connected_gene': 'GC01P051906', 'score': 0.28}]
chr1 GH01I052550 52550115 52555682 2.3 [{'connected_gene': 'ZCCHC11', 'score': 583.32}, {'connected_gene': 'ENSG00000272371', 'score': 550.77}, {'connected_gene': 'MAGOH', 'score': 26.88}, {'connected_gene': 'ENSG00000266993', 'score': 24.82}, {'connected_gene': 'CC2D1B', 'score': 21.8}, {'connected_gene': 'RPS13P2', 'score': 20.53}, {'connected_gene': 'ENSG00000230953', 'score': 19.93}, {'connected_gene': 'GPX7', 'score': 19.81}, {'connected_gene': 'C1orf123', 'score': 10.3}, {'connected_gene': 'PRPF38A', 'score': 9.85}, {'connected_gene': 'SHISAL2A', 'score': 2.5}, {'connected_gene': 'ZYG11B', 'score': 2.15}, {'connected_gene': 'BTF3L4', 'score': 1.41}, {'connected_gene': 'GC01P052555', 'score': 0.77}, {'connected_gene': 'LOC105378723', 'score': 0.34}]
chr1 GH01I052454 52454698 52455300 0.31 [{'connected_gene': 'ZCCHC11', 'score': 11.18}, {'connected_gene': 'GPX7', 'score': 10.57}, {'connected_gene': 'PRPF38A', 'score': 0.23}, {'connected_gene': 'GC01M052527', 'score': 0.19}]
chr1 GH01I052422 52422853 52425661 0.92 [{'connected_gene': 'ZCCHC11', 'score': 23.02}, {'connected_gene': 'CC2D1B', 'score': 22.06}, {'connected_gene': 'GPX7', 'score': 15.88}, {'connected_gene': 'PRPF38A', 'score': 0.37}, {'connected_gene': 'GC01M052527', 'score': 0.15}]
chr1 GH01I052364 52364062 52367269 2.09 [{'connected_gene': 'CC2D1B', 'score': 573.72}, {'connected_gene': 'PRPF38A', 'score': 28.17}, {'connected_gene': 'ZCCHC11', 'score': 24.7}, {'connected_gene': 'MAGOH', 'score': 24.42}, {'connected_gene': 'ENSG00000230953', 'score': 21.41}, {'connected_gene': 'ENSG00000266993', 'score': 16.03}, {'connected_gene': 'ORC1', 'score': 11.65}, {'connected_gene': 'LOC100190934', 'score': 10.96}, {'connected_gene': 'RPS13P2', 'score': 10.11}, {'connected_gene': 'GPX7', 'score': 9.87}, {'connected_gene': 'ENSG00000272100', 'score': 0.39}]
chr1 GH01I051728 51728221 51731591 2.07 [{'connected_gene': 'OSBPL9', 'score': 554.01}, {'connected_gene': 'GC01P051732', 'score': 550.77}, {'connected_gene': 'GC01P051733', 'score': 550.77}, {'connected_gene': 'ENSG00000266993', 'score': 16.21}, {'connected_gene': 'PRPF38A', 'score': 11.77}, {'connected_gene': 'TXNDC12', 'score': 11.2}, {'connected_gene': 'ZCCHC11', 'score': 11.17}, {'connected_gene': 'NRDC', 'score': 10.39}, {'connected_gene': 'GPX7', 'score': 9.83}, {'connected_gene': 'KTI12', 'score': 9.79}, {'connected_gene': 'RNU6-877P', 'score': 9.15}, {'connected_gene': 'ENSG00000212624', 'score': 0.44}]
chr1 GH01I053014 53014202 53016201 2.03 [{'connected_gene': 'SCP2', 'score': 555.6}, {'connected_gene': 'HSPB11', 'score': 14.4}, {'connected_gene': 'PRPF38A', 'score': 11.22}, {'connected_gene': 'GC01P053008', 'score': 0.44}, {'connected_gene': 'GC01P053051', 'score': 0.28}]
chr1 GH01I052686 52686000 52686938 0.84 [{'connected_gene': 'GC01P052685', 'score': 550.77}, {'connected_gene': 'PRPF38A', 'score': 11.25}, {'connected_gene': 'ZYG11B', 'score': 7.0}, {'connected_gene': 'SCP2', 'score': 5.54}, {'connected_gene': 'COA7', 'score': 4.41}, {'connected_gene': 'GC01P052696', 'score': 0.44}]
chr1 GH01I052350 52350392 52352033 0.49 [{'connected_gene': 'GC01M052352', 'score': 550.77}, {'connected_gene': 'GC01M052353', 'score': 550.77}, {'connected_gene': 'CC2D1B', 'score': 25.14}, {'connected_gene': 'PRPF38A', 'score': 6.97}, {'connected_gene': 'GC01P052280', 'score': 0.19}]
chr1 GH01I052532 52532001 52533279 0.89 [{'connected_gene': 'GC01P052532', 'score': 550.77}, {'connected_gene': 'LOC105378723', 'score': 550.77}, {'connected_gene': 'GPX7', 'score': 23.2}, {'connected_gene': 'ZCCHC11', 'score': 17.31}, {'connected_gene': 'CC2D1B', 'score': 17.22}, {'connected_gene': 'PRPF38A', 'score': 8.38}, {'connected_gene': 'GC01P052542', 'score': 0.44}]

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