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
ENST00000469078 [[20188802, 20188944], [20215047, 20215174], [20216029, 20216125], [20232030, 20232155], [20235814, 20236975], [20237560, 20237827]] [[20188941, 20188944], [20215047, 20215174], [20216029, 20216125], [20232030, 20232143]]
ENST00000474284 [[20188802, 20188944], [20216029, 20216125], [20235814, 20236975], [20237560, 20237885]] None
ENST00000473524 [[20188813, 20188944], [20215047, 20215174], [20216029, 20216125], [20217756, 20217894], [20228589, 20228853]] [[20188941, 20188944], [20215047, 20215174], [20216029, 20216125], [20217756, 20217761]]
ENST00000418063 [[20188829, 20188944], [20215047, 20215174], [20216029, 20216125], [20228589, 20230561]] [[20188941, 20188944], [20215047, 20215174], [20216029, 20216125], [20228589, 20230169]]
ENST00000492328 [[20188845, 20188944], [20190595, 20191128]] None
ENST00000484032 [[20231632, 20232155], [20235814, 20235952]] None
NM_007138 [[20188802, 20188944], [20215047, 20215174], [20216029, 20216125], [20228589, 20231977]] [[20188941, 20188944], [20215047, 20215174], [20216029, 20216125], [20228589, 20230169]]
Promoter
Chrom Start End Description
chr19 20188776 20188826 CAGE_peak_1_at_ZNF90_5end
chr19 20188831 20188844 CAGE_peak_2_at_ZNF90_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I019627 19627188 19629741 1.85 [{'connected_gene': 'LPAR2', 'score': 559.35}, {'connected_gene': 'NR2C2AP', 'score': 16.03}, {'connected_gene': 'UPF1', 'score': 14.22}, {'connected_gene': 'ZNF90', 'score': 13.53}, {'connected_gene': 'ATP13A1', 'score': 13.53}, {'connected_gene': 'TMEM161A', 'score': 11.16}, {'connected_gene': 'MAU2', 'score': 10.38}, {'connected_gene': 'PBX4', 'score': 0.44}, {'connected_gene': 'GMIP', 'score': 0.37}, {'connected_gene': 'GC19M019627', 'score': 0.31}]
chr19 GH19I020067 20067128 20069161 0.2 [{'connected_gene': 'ZNF682', 'score': 11.95}, {'connected_gene': 'GC19P020258', 'score': 0.77}, {'connected_gene': 'ZNF90', 'score': 0.44}]
chr19 GH19I020102 20102473 20103849 0.38 [{'connected_gene': 'ZNF682', 'score': 10.98}, {'connected_gene': 'ZNF506', 'score': 8.27}, {'connected_gene': 'ZNF253', 'score': 4.19}, {'connected_gene': 'PIR56356', 'score': 0.77}, {'connected_gene': 'PIR62950', 'score': 0.39}, {'connected_gene': 'ZNF90', 'score': 0.31}]
chr19 GH19I020226 20226824 20227036 0.38 [{'connected_gene': 'ZNF486', 'score': 8.25}, {'connected_gene': 'ZNF90', 'score': 4.82}, {'connected_gene': 'ZNF93', 'score': 2.92}, {'connected_gene': 'ZNF682', 'score': 2.89}, {'connected_gene': 'ENSG00000280079', 'score': 0.77}, {'connected_gene': 'LOC105372310', 'score': 0.39}, {'connected_gene': 'ENSG00000267383', 'score': 0.16}]
chr19 GH19I019899 19899664 19902652 1.95 [{'connected_gene': 'ZNF93', 'score': 579.55}, {'connected_gene': 'ATP13A1', 'score': 27.92}, {'connected_gene': 'ZNF90', 'score': 16.25}, {'connected_gene': 'ZNF506', 'score': 16.03}, {'connected_gene': 'NR2C2AP', 'score': 15.41}, {'connected_gene': 'ENSG00000267481', 'score': 12.41}, {'connected_gene': 'TMEM161A', 'score': 11.93}, {'connected_gene': 'ZNF66', 'score': 11.91}, {'connected_gene': 'MAU2', 'score': 11.9}, {'connected_gene': 'ZNF101', 'score': 11.79}, {'connected_gene': 'SUGP2', 'score': 11.49}, {'connected_gene': 'BNIP3P16', 'score': 11.02}, {'connected_gene': 'MEF2B', 'score': 10.28}, {'connected_gene': 'VN1R77P', 'score': 6.8}, {'connected_gene': 'HOMER3-AS1', 'score': 6.07}, {'connected_gene': 'ENSG00000273791', 'score': 0.44}]
chr19 GH19I021019 21019975 21024577 2.18 [{'connected_gene': 'ZNF430', 'score': 550.77}, {'connected_gene': 'ZNF100', 'score': 22.82}, {'connected_gene': 'LOC641367', 'score': 22.08}, {'connected_gene': 'ZNF714', 'score': 22.01}, {'connected_gene': 'ZNF90', 'score': 19.49}, {'connected_gene': 'BNIP3P26', 'score': 18.57}, {'connected_gene': 'RPL7AP10', 'score': 17.68}, {'connected_gene': 'ZNF66', 'score': 14.57}, {'connected_gene': 'ZNF431', 'score': 13.79}, {'connected_gene': 'ZNF486', 'score': 13.19}, {'connected_gene': 'BNIP3P16', 'score': 12.52}, {'connected_gene': 'VN1R82P', 'score': 11.73}, {'connected_gene': 'LOC101928960', 'score': 10.87}, {'connected_gene': 'ZNF429', 'score': 6.49}, {'connected_gene': 'ZNF738', 'score': 4.38}, {'connected_gene': 'ENSG00000271598', 'score': 0.77}]
chr19 GH19I020922 20922455 20924600 1.84 [{'connected_gene': 'ZNF85', 'score': 550.77}, {'connected_gene': 'ZNF100', 'score': 31.82}, {'connected_gene': 'ZNF66', 'score': 15.5}, {'connected_gene': 'ZNF90', 'score': 12.39}, {'connected_gene': 'RPL7AP10', 'score': 11.75}, {'connected_gene': 'ZNF431', 'score': 11.27}, {'connected_gene': 'LOC641367', 'score': 10.92}, {'connected_gene': 'ZNF43', 'score': 10.63}, {'connected_gene': 'ZNF486', 'score': 9.76}, {'connected_gene': 'ENSG00000268416', 'score': 4.64}, {'connected_gene': 'ENSG00000279404', 'score': 0.44}]
chr19 GH19I020775 20775635 20777401 1.37 [{'connected_gene': 'ZNF66', 'score': 568.18}, {'connected_gene': 'GC19M022334', 'score': 550.77}, {'connected_gene': 'ZNF100', 'score': 22.7}, {'connected_gene': 'ENSG00000267481', 'score': 16.81}, {'connected_gene': 'ZNF90', 'score': 12.39}, {'connected_gene': 'ZNF506', 'score': 11.72}, {'connected_gene': 'LOC641367', 'score': 10.92}, {'connected_gene': 'ZNF56', 'score': 10.57}, {'connected_gene': 'ZNF486', 'score': 9.76}, {'connected_gene': 'ZNF85', 'score': 9.4}, {'connected_gene': 'ENSG00000268416', 'score': 8.89}, {'connected_gene': 'ENSG00000269779', 'score': 6.47}, {'connected_gene': 'BNIP3P24', 'score': 0.44}]
chr19 GH19I019191 19191185 19194117 2.09 [{'connected_gene': 'BORCS8', 'score': 555.4}, {'connected_gene': 'BORCS8-MEF2B', 'score': 550.77}, {'connected_gene': 'RFXANK', 'score': 550.77}, {'connected_gene': 'UPF1', 'score': 17.61}, {'connected_gene': 'ATP13A1', 'score': 16.23}, {'connected_gene': 'ENSG00000268030', 'score': 15.4}, {'connected_gene': 'MAU2', 'score': 14.99}, {'connected_gene': 'NR2C2AP', 'score': 12.52}, {'connected_gene': 'IQCN', 'score': 11.39}, {'connected_gene': 'ZNF90', 'score': 11.28}, {'connected_gene': 'ENSG00000268938', 'score': 11.08}, {'connected_gene': 'TMEM161A', 'score': 10.88}, {'connected_gene': 'ENSG00000267481', 'score': 10.27}]
chr19 GH19I020422 20422029 20425564 1.48 [{'connected_gene': 'ZNF826P', 'score': 563.08}, {'connected_gene': 'LOC105372317', 'score': 550.77}, {'connected_gene': 'ZNF90', 'score': 1.34}]
chr19 GH19I019224 19224283 19225943 1.16 [{'connected_gene': 'UPF1', 'score': 18.66}, {'connected_gene': 'ATP13A1', 'score': 17.0}, {'connected_gene': 'IQCN', 'score': 15.29}, {'connected_gene': 'ENSG00000268030', 'score': 14.95}, {'connected_gene': 'ENSG00000268938', 'score': 14.59}, {'connected_gene': 'NR2C2AP', 'score': 12.57}, {'connected_gene': 'MAU2', 'score': 11.91}, {'connected_gene': 'ENSG00000269191', 'score': 11.45}, {'connected_gene': 'ELL', 'score': 10.59}, {'connected_gene': 'GATAD2A', 'score': 9.93}, {'connected_gene': 'ZNF90', 'score': 9.79}, {'connected_gene': 'YJEFN3', 'score': 5.49}, {'connected_gene': 'RNU6-1028P', 'score': 0.44}, {'connected_gene': 'NCAN', 'score': 0.39}]
chr19 GH19I019667 19667036 19670580 2.02 [{'connected_gene': 'ATP13A1', 'score': 566.5}, {'connected_gene': 'ZNF101', 'score': 550.77}, {'connected_gene': 'UPF1', 'score': 26.99}, {'connected_gene': 'NDUFA13', 'score': 17.57}, {'connected_gene': 'LPAR2', 'score': 16.18}, {'connected_gene': 'MAU2', 'score': 12.97}, {'connected_gene': 'BNIP3P16', 'score': 10.75}, {'connected_gene': 'ZNF90', 'score': 10.44}, {'connected_gene': 'NR2C2AP', 'score': 10.09}, {'connected_gene': 'GC19M019685', 'score': 0.34}]
chr19 GH19I019594 19594525 19603458 1.58 [{'connected_gene': 'ATP13A1', 'score': 34.0}, {'connected_gene': 'LPAR2', 'score': 20.58}, {'connected_gene': 'UPF1', 'score': 19.98}, {'connected_gene': 'GATAD2A', 'score': 17.9}, {'connected_gene': 'NR2C2AP', 'score': 15.98}, {'connected_gene': 'ZNF90', 'score': 15.27}, {'connected_gene': 'GMIP', 'score': 15.24}, {'connected_gene': 'MAU2', 'score': 13.87}, {'connected_gene': 'ENSG00000267481', 'score': 12.01}, {'connected_gene': 'BNIP3P16', 'score': 10.9}, {'connected_gene': 'MEF2B', 'score': 10.53}, {'connected_gene': 'PBX4', 'score': 5.43}, {'connected_gene': 'NDUFA13', 'score': 4.89}, {'connected_gene': 'RFXANK', 'score': 2.09}, {'connected_gene': 'ZNF14', 'score': 2.05}, {'connected_gene': 'ZNF506', 'score': 1.45}, {'connected_gene': 'ENSG00000259242', 'score': 0.44}, {'connected_gene': 'PHF5CP', 'score': 0.39}]
chr19 GH19I019402 19402800 19408068 2.56 [{'connected_gene': 'GATAD2A', 'score': 580.59}, {'connected_gene': 'NDUFA13', 'score': 36.06}, {'connected_gene': 'ENSG00000268030', 'score': 18.23}, {'connected_gene': 'UPF1', 'score': 17.7}, {'connected_gene': 'ATP13A1', 'score': 15.79}, {'connected_gene': 'ENSG00000268938', 'score': 14.69}, {'connected_gene': 'ELL', 'score': 13.68}, {'connected_gene': 'MAU2', 'score': 13.1}, {'connected_gene': 'ENSG00000269191', 'score': 12.17}, {'connected_gene': 'TM6SF2', 'score': 11.36}, {'connected_gene': 'BNIP3P16', 'score': 10.75}, {'connected_gene': 'ZNF90', 'score': 10.42}, {'connected_gene': 'NR2C2AP', 'score': 10.13}, {'connected_gene': 'YJEFN3', 'score': 4.87}, {'connected_gene': 'GMIP', 'score': 3.09}, {'connected_gene': 'HOMER3', 'score': 1.79}, {'connected_gene': 'RFXANK', 'score': 1.49}, {'connected_gene': 'ENSG00000267234', 'score': 0.77}, {'connected_gene': 'GC19P019700', 'score': 0.31}]
chr19 GH19I019484 19484807 19491145 1.72 [{'connected_gene': 'GATAD2A', 'score': 24.02}, {'connected_gene': 'NR2C2AP', 'score': 15.03}, {'connected_gene': 'ZNF90', 'score': 13.32}, {'connected_gene': 'ENSG00000268030', 'score': 12.34}, {'connected_gene': 'TMEM161A', 'score': 10.74}, {'connected_gene': 'ATP13A1', 'score': 10.32}, {'connected_gene': 'ENSG00000267481', 'score': 10.2}, {'connected_gene': 'YJEFN3', 'score': 4.98}, {'connected_gene': 'TM6SF2', 'score': 4.0}, {'connected_gene': 'RFXANK', 'score': 3.05}, {'connected_gene': 'GMIP', 'score': 2.63}, {'connected_gene': 'PBX4', 'score': 1.91}, {'connected_gene': 'MAU2', 'score': 1.78}, {'connected_gene': 'GC19M019490', 'score': 0.39}, {'connected_gene': 'PIR48619', 'score': 0.39}]
chr19 GH19I019260 19260376 19262588 0.92 [{'connected_gene': 'HAPLN4', 'score': 550.77}, {'connected_gene': 'NR2C2AP', 'score': 30.03}, {'connected_gene': 'ZNF90', 'score': 24.43}, {'connected_gene': 'ENSG00000268030', 'score': 24.27}, {'connected_gene': 'NDUFA13', 'score': 23.39}, {'connected_gene': 'ATP13A1', 'score': 16.6}, {'connected_gene': 'IQCN', 'score': 14.35}, {'connected_gene': 'MAU2', 'score': 14.34}, {'connected_gene': 'UPF1', 'score': 13.52}, {'connected_gene': 'ENSG00000267481', 'score': 11.48}, {'connected_gene': 'TMEM161A', 'score': 11.16}, {'connected_gene': 'ZNF93', 'score': 9.66}, {'connected_gene': 'ENSG00000280282', 'score': 0.44}, {'connected_gene': 'ENSG00000267629', 'score': 0.39}]
chr19 GH19I019374 19374705 19375620 1.25 [{'connected_gene': 'NR2C2AP', 'score': 85.75}, {'connected_gene': 'ATP13A1', 'score': 76.81}, {'connected_gene': 'ENSG00000268030', 'score': 76.76}, {'connected_gene': 'ENSG00000267481', 'score': 69.35}, {'connected_gene': 'ZNF90', 'score': 66.86}, {'connected_gene': 'UPF1', 'score': 65.19}, {'connected_gene': 'ZNF253', 'score': 46.35}, {'connected_gene': 'MAU2', 'score': 43.27}, {'connected_gene': 'SUGP2', 'score': 36.54}, {'connected_gene': 'ENSG00000268938', 'score': 36.26}, {'connected_gene': 'ZNF14', 'score': 28.68}, {'connected_gene': 'ZNF506', 'score': 28.62}, {'connected_gene': 'ENSG00000269191', 'score': 24.28}, {'connected_gene': 'ZNF56', 'score': 24.14}, {'connected_gene': 'ENSG00000267565', 'score': 18.98}, {'connected_gene': 'TMEM161A', 'score': 11.1}, {'connected_gene': 'BNIP3P16', 'score': 10.9}, {'connected_gene': 'LINC00663', 'score': 10.69}, {'connected_gene': 'MEF2B', 'score': 10.56}, {'connected_gene': 'ELL', 'score': 10.26}, {'connected_gene': 'BNIP3P15', 'score': 9.95}, {'connected_gene': 'ZNF93', 'score': 9.66}, {'connected_gene': 'YJEFN3', 'score': 5.22}, {'connected_gene': 'GC19P020224', 'score': 0.44}, {'connected_gene': 'GC19P020007', 'score': 0.37}, {'connected_gene': 'PIR49867', 'score': 0.37}]
chr19 GH19I019201 19201912 19204021 1.95 [{'connected_gene': 'NR2C2AP', 'score': 561.28}, {'connected_gene': 'ENSG00000267481', 'score': 16.81}, {'connected_gene': 'MAU2', 'score': 13.78}, {'connected_gene': 'ATP13A1', 'score': 12.93}, {'connected_gene': 'UPF1', 'score': 12.69}, {'connected_gene': 'ENSG00000268938', 'score': 12.64}, {'connected_gene': 'ENSG00000269191', 'score': 12.56}, {'connected_gene': 'ZNF90', 'score': 12.39}, {'connected_gene': 'ZNF14', 'score': 11.96}, {'connected_gene': 'ENSG00000268030', 'score': 11.95}, {'connected_gene': 'ZNF506', 'score': 11.73}, {'connected_gene': 'HAPLN4', 'score': 11.25}, {'connected_gene': 'IQCN', 'score': 10.92}, {'connected_gene': 'ZNF56', 'score': 10.57}, {'connected_gene': 'ZNF486', 'score': 9.76}, {'connected_gene': 'BORCS8-MEF2B', 'score': 0.39}, {'connected_gene': 'BORCS8', 'score': 0.39}]
chr19 GH19I020077 20077335 20084093 1.89 [{'connected_gene': 'LOC100419301', 'score': 550.77}, {'connected_gene': 'ZNF90', 'score': 550.77}, {'connected_gene': 'ZNF682', 'score': 11.74}, {'connected_gene': 'BNIP3P15', 'score': 5.0}, {'connected_gene': 'CILP2', 'score': 4.69}, {'connected_gene': 'MEF2B', 'score': 4.35}, {'connected_gene': 'ZNF506', 'score': 4.34}, {'connected_gene': 'BNIP3P14', 'score': 0.44}]
chr19 GH19I019175 19175092 19175281 0.87 [{'connected_gene': 'MEF2B', 'score': 9.1}, {'connected_gene': 'ZNF90', 'score': 6.17}, {'connected_gene': 'GC19P020240', 'score': 0.39}, {'connected_gene': 'BORCS8-MEF2B', 'score': 0.37}]
chr19 GH19I019171 19171578 19172904 1.12 [{'connected_gene': 'MEF2B', 'score': 559.57}, {'connected_gene': 'ZNF90', 'score': 6.18}, {'connected_gene': 'GC19P020240', 'score': 0.37}, {'connected_gene': 'BORCS8-MEF2B', 'score': 0.34}]
chr19 GH19I019376 19376841 19379158 1.3 [{'connected_gene': 'ENSG00000268030', 'score': 16.12}, {'connected_gene': 'NR2C2AP', 'score': 16.08}, {'connected_gene': 'UPF1', 'score': 14.22}, {'connected_gene': 'ZNF90', 'score': 13.51}, {'connected_gene': 'ATP13A1', 'score': 13.32}, {'connected_gene': 'TMEM161A', 'score': 11.19}, {'connected_gene': 'ENSG00000268938', 'score': 11.12}, {'connected_gene': 'MAU2', 'score': 10.54}, {'connected_gene': 'ENSG00000269191', 'score': 9.98}, {'connected_gene': 'GATAD2A', 'score': 8.11}, {'connected_gene': 'GC19P020224', 'score': 0.77}, {'connected_gene': 'GC19P020007', 'score': 0.34}, {'connected_gene': 'PIR49867', 'score': 0.34}]

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