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
ENST00000321613 [[22077221, 22079400], [22081738, 22081856], [22084363, 22084538], [22085705, 22085899], [22086300, 22086422], [22089308, 22089614]] [[22078865, 22079400], [22081738, 22081856], [22084363, 22084538], [22085705, 22085870]]
ENST00000454243 [[22077233, 22079400], [22081738, 22081856], [22084363, 22084538], [22085705, 22085899], [22089308, 22089854]] [[22078865, 22079400], [22081738, 22081856], [22084363, 22084538], [22085705, 22085870]]
ENST00000523252 [[22078970, 22079400], [22081738, 22081856], [22084363, 22084538], [22085160, 22085206]] [[22078970, 22079400], [22081738, 22081856], [22084363, 22084538], [22085160, 22085181]]
ENST00000522869 [[22081245, 22081856], [22084363, 22084538], [22085705, 22085766]] None
ENST00000518274 [[22081804, 22081856], [22084363, 22084538], [22085705, 22086191]] None
NM_001099335 [[22077215, 22079400], [22081738, 22081856], [22084363, 22084538], [22085705, 22085899], [22086300, 22086422], [22089308, 22089851]] [[22078865, 22079400], [22081738, 22081856], [22084363, 22084538], [22085705, 22085870]]
NM_014759 [[22077215, 22079400], [22081738, 22081856], [22084363, 22084538], [22085705, 22085899], [22089308, 22089851]] [[22078865, 22079400], [22081738, 22081856], [22084363, 22084538], [22085705, 22085870]]
Promoter
Chrom Start End Description
chr8 22086151 22086178 CAGE_peak_7_at_PHYHIP_5end
chr8 22089484 22089495 CAGE_peak_5_at_PHYHIP_5end
chr8 22089520 22089531 CAGE_peak_3_at_PHYHIP_5end
chr8 22089533 22089625 CAGE_peak_1_at_PHYHIP_5end
chr8 22089629 22089640 CAGE_peak_6_at_PHYHIP_5end
chr8 22089641 22089652 CAGE_peak_4_at_PHYHIP_5end
chr8 22089810 22089827 CAGE_peak_10_at_PHYHIP_5end
chr8 22089829 22089836 CAGE_peak_11_at_PHYHIP_5end
chr8 22089845 22089871 CAGE_peak_2_at_PHYHIP_5end
chr8 22089874 22089889 CAGE_peak_9_at_PHYHIP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I022202 22202827 22206671 0.96 [{'connected_gene': 'PHYHIP', 'score': 11.62}, {'connected_gene': 'POLR3D', 'score': 11.57}, {'connected_gene': 'MIR320A', 'score': 11.57}, {'connected_gene': 'BMP1', 'score': 11.52}, {'connected_gene': 'SFTPC', 'score': 11.51}, {'connected_gene': 'LGI3', 'score': 10.76}, {'connected_gene': 'NPM2', 'score': 10.09}, {'connected_gene': 'LOC105379319', 'score': 0.39}]
chr8 GH08I022231 22231503 22232820 1.46 [{'connected_gene': 'PHYHIP', 'score': 550.77}, {'connected_gene': 'PIWIL2', 'score': 20.5}, {'connected_gene': 'LOC105379319', 'score': 0.26}]
chr8 GH08I022237 22237388 22237557 0.87 [{'connected_gene': 'PHYHIP', 'score': 0.44}, {'connected_gene': 'MIR320A', 'score': 0.44}]
chr8 GH08I022238 22238673 22239717 0.31 [{'connected_gene': 'PHYHIP', 'score': 0.44}, {'connected_gene': 'MIR320A', 'score': 0.44}]
chr8 GH08I022232 22231186 22231245 0.93 [{'connected_gene': 'PHYHIP', 'score': 550.77}, {'connected_gene': 'LOC105379319', 'score': 0.28}]
chr8 GH08I023067 23067088 23070722 2.3 [{'connected_gene': 'TNFRSF10B', 'score': 566.92}, {'connected_gene': 'LOC286059', 'score': 550.77}, {'connected_gene': 'ENSG00000253616', 'score': 22.75}, {'connected_gene': 'PHYHIP', 'score': 13.05}, {'connected_gene': 'FAM160B2', 'score': 12.63}, {'connected_gene': 'ENSG00000253200', 'score': 10.9}, {'connected_gene': 'BMP1', 'score': 10.25}, {'connected_gene': 'TNFRSF10C', 'score': 7.8}, {'connected_gene': 'PEBP4', 'score': 5.14}, {'connected_gene': 'PPP3CC', 'score': 4.42}]
chr8 GH08I022376 22376844 22377533 0.31 [{'connected_gene': 'POLR3D', 'score': 11.16}, {'connected_gene': 'MIR320A', 'score': 11.16}, {'connected_gene': 'PHYHIP', 'score': 11.15}, {'connected_gene': 'LOC100507071', 'score': 10.82}, {'connected_gene': 'PIWIL2', 'score': 10.82}, {'connected_gene': 'RNU6-336P', 'score': 10.73}, {'connected_gene': 'PPP3CC', 'score': 10.72}, {'connected_gene': 'LGI3', 'score': 10.26}, {'connected_gene': 'SFTPC', 'score': 10.26}, {'connected_gene': 'ENSG00000253616', 'score': 5.24}, {'connected_gene': 'GC08M022352', 'score': 0.77}, {'connected_gene': 'SLC39A14', 'score': 0.44}, {'connected_gene': 'RPL21P77', 'score': 0.39}]
chr8 GH08I022243 22243274 22247074 2.1 [{'connected_gene': 'POLR3D', 'score': 559.1}, {'connected_gene': 'GC08P022245', 'score': 550.77}, {'connected_gene': 'GC08P022247', 'score': 550.77}, {'connected_gene': 'MIR320A', 'score': 550.77}, {'connected_gene': 'ENSG00000253200', 'score': 28.75}, {'connected_gene': 'PIWIL2', 'score': 28.26}, {'connected_gene': 'FAM160B2', 'score': 17.14}, {'connected_gene': 'PHYHIP', 'score': 16.71}, {'connected_gene': 'BIN3', 'score': 13.33}, {'connected_gene': 'LOC107986927', 'score': 13.21}, {'connected_gene': 'FGF17', 'score': 12.56}, {'connected_gene': 'BMP1', 'score': 11.76}, {'connected_gene': 'C8orf58', 'score': 10.74}]
chr8 GH08I022223 22223843 22225204 0.84 [{'connected_gene': 'BMP1', 'score': 10.97}, {'connected_gene': 'SFTPC', 'score': 10.95}, {'connected_gene': 'NPM2', 'score': 10.52}, {'connected_gene': 'ENSG00000251034', 'score': 9.47}, {'connected_gene': 'SORBS3', 'score': 9.47}, {'connected_gene': 'PIWIL2', 'score': 6.59}, {'connected_gene': 'PHYHIP', 'score': 6.4}, {'connected_gene': 'LOC105379319', 'score': 0.29}]
chr8 GH08I022196 22196555 22198899 0.71 [{'connected_gene': 'BMP1', 'score': 13.97}, {'connected_gene': 'LOC105379319', 'score': 0.44}, {'connected_gene': 'PHYHIP', 'score': 0.29}]
chr8 GH08I022603 22603226 22606790 2.13 [{'connected_gene': 'CCAR2', 'score': 563.37}, {'connected_gene': 'PIR62346', 'score': 550.77}, {'connected_gene': 'PIR54985', 'score': 550.77}, {'connected_gene': 'GC08P022605', 'score': 550.77}, {'connected_gene': 'PIR42411', 'score': 550.77}, {'connected_gene': 'C8orf58', 'score': 80.47}, {'connected_gene': 'ENSG00000253200', 'score': 54.13}, {'connected_gene': 'FAM160B2', 'score': 37.21}, {'connected_gene': 'ENTPD4', 'score': 22.27}, {'connected_gene': 'BIN3', 'score': 22.15}, {'connected_gene': 'CHMP7', 'score': 20.44}, {'connected_gene': 'BMP1', 'score': 20.28}, {'connected_gene': 'POLR3D', 'score': 19.17}, {'connected_gene': 'LOC100507156', 'score': 14.94}, {'connected_gene': 'SORBS3', 'score': 13.97}, {'connected_gene': 'LOC107986927', 'score': 13.14}, {'connected_gene': 'PHYHIP', 'score': 13.08}, {'connected_gene': 'FGF17', 'score': 12.51}, {'connected_gene': 'PDLIM2', 'score': 12.34}, {'connected_gene': 'PPP3CC', 'score': 10.58}, {'connected_gene': 'RNU6-336P', 'score': 10.58}]
chr8 GH08I022208 22208213 22213688 1.55 [{'connected_gene': 'PIWIL2', 'score': 6.72}, {'connected_gene': 'PHYHIP', 'score': 6.11}, {'connected_gene': 'POLR3D', 'score': 5.47}, {'connected_gene': 'LOC105379319', 'score': 0.37}, {'connected_gene': 'BMP1', 'score': 0.25}]
chr8 GH08I022226 22226648 22229036 1.4 [{'connected_gene': 'PIWIL2', 'score': 14.57}, {'connected_gene': 'POLR3D', 'score': 4.98}, {'connected_gene': 'PHYHIP', 'score': 0.77}, {'connected_gene': 'LOC105379319', 'score': 0.28}]
chr8 GH08I022286 22286809 22288069 1.14 [{'connected_gene': 'PIWIL2', 'score': 14.01}, {'connected_gene': 'POLR3D', 'score': 11.3}, {'connected_gene': 'MIR320A', 'score': 11.3}, {'connected_gene': 'PHYHIP', 'score': 11.26}, {'connected_gene': 'SLC39A14', 'score': 11.24}, {'connected_gene': 'SORBS3', 'score': 10.42}, {'connected_gene': 'ENSG00000251034', 'score': 9.42}]
chr8 GH08I022377 22377715 22380933 0.49 [{'connected_gene': 'PIWIL2', 'score': 19.3}, {'connected_gene': 'POLR3D', 'score': 11.16}, {'connected_gene': 'MIR320A', 'score': 11.16}, {'connected_gene': 'PHYHIP', 'score': 11.15}, {'connected_gene': 'LOC100507071', 'score': 10.82}, {'connected_gene': 'RNU6-336P', 'score': 10.73}, {'connected_gene': 'PPP3CC', 'score': 10.72}, {'connected_gene': 'LGI3', 'score': 10.26}, {'connected_gene': 'SFTPC', 'score': 10.26}, {'connected_gene': 'GC08M022352', 'score': 0.44}, {'connected_gene': 'RPL21P77', 'score': 0.39}, {'connected_gene': 'SLC39A14', 'score': 0.39}]
chr8 GH08I022214 22214816 22217221 0.6 [{'connected_gene': 'PIWIL2', 'score': 18.61}, {'connected_gene': 'POLR3D', 'score': 13.11}, {'connected_gene': 'MIR320A', 'score': 13.11}, {'connected_gene': 'SFTPC', 'score': 11.28}, {'connected_gene': 'LOC100507071', 'score': 11.16}, {'connected_gene': 'LGI3', 'score': 10.71}, {'connected_gene': 'PHYHIP', 'score': 0.37}, {'connected_gene': 'LOC105379319', 'score': 0.34}]
chr8 GH08I022352 22352011 22354338 1.3 [{'connected_gene': 'PIWIL2', 'score': 47.04}, {'connected_gene': 'CCAR2', 'score': 20.94}, {'connected_gene': 'PHYHIP', 'score': 13.15}, {'connected_gene': 'ENSG00000253200', 'score': 12.93}, {'connected_gene': 'FGF17', 'score': 12.54}, {'connected_gene': 'SORBS3', 'score': 11.27}, {'connected_gene': 'LOC101929237', 'score': 10.68}, {'connected_gene': 'C8orf58', 'score': 10.52}, {'connected_gene': 'LOC100507156', 'score': 10.36}, {'connected_gene': 'ENSG00000251034', 'score': 10.36}, {'connected_gene': 'RNU6-336P', 'score': 10.22}, {'connected_gene': 'PPP3CC', 'score': 10.21}, {'connected_gene': 'XPO7', 'score': 9.82}, {'connected_gene': 'BTF3P3', 'score': 9.75}, {'connected_gene': 'SLC39A14', 'score': 0.39}, {'connected_gene': 'GC08M022352', 'score': 0.37}]
chr8 GH08I022312 22312193 22315937 0.77 [{'connected_gene': 'PIWIL2', 'score': 51.81}, {'connected_gene': 'SLC39A14', 'score': 15.33}, {'connected_gene': 'LOC100507071', 'score': 11.18}, {'connected_gene': 'POLR3D', 'score': 10.82}, {'connected_gene': 'MIR320A', 'score': 10.82}, {'connected_gene': 'PHYHIP', 'score': 10.79}, {'connected_gene': 'PPP3CC', 'score': 9.97}, {'connected_gene': 'RNU6-336P', 'score': 9.97}]
chr8 GH08I022217 22217564 22221563 1.16 [{'connected_gene': 'PIWIL2', 'score': 17.66}, {'connected_gene': 'LOC100507071', 'score': 11.08}, {'connected_gene': 'ENSG00000251034', 'score': 9.41}, {'connected_gene': 'SORBS3', 'score': 9.41}, {'connected_gene': 'PHYHIP', 'score': 0.39}, {'connected_gene': 'LOC105379319', 'score': 0.31}]
chr8 GH08I022222 22222223 22222322 0.58 [{'connected_gene': 'PIWIL2', 'score': 11.09}, {'connected_gene': 'LOC100507071', 'score': 11.09}, {'connected_gene': 'ENSG00000251034', 'score': 9.41}, {'connected_gene': 'SORBS3', 'score': 9.41}, {'connected_gene': 'PHYHIP', 'score': 0.39}, {'connected_gene': 'LOC105379319', 'score': 0.29}]
chr8 GH08I022009 22009601 22011400 1.53 [{'connected_gene': 'GFRA2', 'score': 7.41}, {'connected_gene': 'NPM2', 'score': 3.65}, {'connected_gene': 'PHYHIP', 'score': 2.75}, {'connected_gene': 'DMTN', 'score': 2.54}, {'connected_gene': 'LGI3', 'score': 2.02}, {'connected_gene': 'PIR59461', 'score': 0.44}, {'connected_gene': 'GC08P022006', 'score': 0.44}]
chr8 GH08I021917 21917950 21922279 2.36 [{'connected_gene': 'XPO7', 'score': 550.77}, {'connected_gene': 'ENSG00000253200', 'score': 26.09}, {'connected_gene': 'BIN3', 'score': 24.94}, {'connected_gene': 'FGF17', 'score': 16.85}, {'connected_gene': 'FAM160B2', 'score': 13.78}, {'connected_gene': 'NPM2', 'score': 13.25}, {'connected_gene': 'C8orf58', 'score': 10.53}, {'connected_gene': 'POLR3D', 'score': 9.95}, {'connected_gene': 'GFRA2', 'score': 8.38}, {'connected_gene': 'DMTN', 'score': 5.33}, {'connected_gene': 'DOK2', 'score': 1.55}, {'connected_gene': 'PHYHIP', 'score': 1.29}, {'connected_gene': 'GC08P021924', 'score': 0.77}]
chr8 GH08I022190 22190500 22195137 1.42 [{'connected_gene': 'LOC105379319', 'score': 550.77}, {'connected_gene': 'BMP1', 'score': 17.31}, {'connected_gene': 'PPP3CC', 'score': 5.91}, {'connected_gene': 'XPO7', 'score': 5.19}, {'connected_gene': 'DOK2', 'score': 1.47}, {'connected_gene': 'PHYHIP', 'score': 0.28}]
chr8 GH08I022545 22545169 22555197 2.47 [{'connected_gene': 'SORBS3', 'score': 561.85}, {'connected_gene': 'GC08M022549', 'score': 550.77}, {'connected_gene': 'PPP3CC', 'score': 18.51}, {'connected_gene': 'RNU6-336P', 'score': 11.58}, {'connected_gene': 'PDLIM2', 'score': 11.45}, {'connected_gene': 'ENSG00000248235', 'score': 11.42}, {'connected_gene': 'CCAR2', 'score': 11.01}, {'connected_gene': 'ENSG00000253200', 'score': 10.18}, {'connected_gene': 'XPO7', 'score': 10.03}, {'connected_gene': 'SLC39A14', 'score': 6.09}, {'connected_gene': 'LGI3', 'score': 3.29}, {'connected_gene': 'DMTN', 'score': 2.33}, {'connected_gene': 'PHYHIP', 'score': 2.3}, {'connected_gene': 'EGR3', 'score': 1.44}, {'connected_gene': 'RHOBTB2', 'score': 1.31}, {'connected_gene': 'ENSG00000251034', 'score': 0.77}]
chr8 GH08I022373 22373434 22375435 0.52 [{'connected_gene': 'GC08M022352', 'score': 550.77}, {'connected_gene': 'PPP3CC', 'score': 18.96}, {'connected_gene': 'POLR3D', 'score': 11.17}, {'connected_gene': 'MIR320A', 'score': 11.17}, {'connected_gene': 'PHYHIP', 'score': 11.15}, {'connected_gene': 'LOC100507071', 'score': 10.82}, {'connected_gene': 'PIWIL2', 'score': 10.82}, {'connected_gene': 'RNU6-336P', 'score': 10.73}, {'connected_gene': 'LGI3', 'score': 10.27}, {'connected_gene': 'SFTPC', 'score': 10.27}, {'connected_gene': 'SLC39A14', 'score': 0.44}, {'connected_gene': 'RPL21P77', 'score': 0.37}]
chr8 GH08I023073 23073601 23076200 1.48 [{'connected_gene': 'ENSG00000253616', 'score': 574.46}, {'connected_gene': 'ENSG00000253200', 'score': 43.22}, {'connected_gene': 'C8orf58', 'score': 34.34}, {'connected_gene': 'FAM160B2', 'score': 29.15}, {'connected_gene': 'LOC107986927', 'score': 22.99}, {'connected_gene': 'CHMP7', 'score': 22.71}, {'connected_gene': 'BMP1', 'score': 22.55}, {'connected_gene': 'LOXL2', 'score': 13.84}, {'connected_gene': 'PHYHIP', 'score': 13.05}, {'connected_gene': 'CCAR2', 'score': 12.74}, {'connected_gene': 'SORBS3', 'score': 12.64}, {'connected_gene': 'ENTPD4', 'score': 10.23}, {'connected_gene': 'POLR3D', 'score': 10.19}, {'connected_gene': 'TNFRSF10C', 'score': 9.52}, {'connected_gene': 'TNFRSF10B', 'score': 5.45}, {'connected_gene': 'LOC286059', 'score': 0.44}, {'connected_gene': 'LOC254896', 'score': 0.44}]

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