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
ENST00000305783 [[58029600, 58030472], [58031405, 58031507], [58033848, 58033914], [58034584, 58034743], [58035651, 58035805], [58037428, 58037529], [58039900, 58039977], [58040187, 58040645], [58041968, 58042080]] [[58030337, 58030472], [58031405, 58031507], [58033848, 58033914], [58034584, 58034743], [58035651, 58035805], [58037428, 58037529], [58039900, 58039977], [58040187, 58040645], [58041968, 58042024]]
ENST00000482446 [[58029722, 58030472], [58031405, 58031507], [58033848, 58033914], [58034584, 58034743], [58035651, 58035805], [58039900, 58039977], [58040187, 58040645], [58041968, 58042095]] [[58035658, 58035805], [58039900, 58039977], [58040187, 58040645], [58041968, 58042024]]
ENST00000466544 [[58029756, 58030472], [58031405, 58031507], [58033848, 58033914], [58034584, 58034743], [58035651, 58035805], [58040187, 58040645], [58041968, 58042122]] [[58035800, 58035805], [58040187, 58040645], [58041968, 58042024]]
ENST00000442346 [[58030323, 58030472], [58031405, 58031507], [58033848, 58033914], [58034584, 58034743], [58035651, 58035805], [58040187, 58040645], [58041968, 58042098]] [[58035800, 58035805], [58040187, 58040590]]
ENST00000486103 [[58031309, 58031507], [58033848, 58033914], [58034584, 58034743], [58035651, 58035998]] None
ENST00000484257 [[58033848, 58033914], [58034584, 58034743], [58035651, 58035805], [58035984, 58036062], [58037428, 58037529], [58039900, 58039960]] [[58036008, 58036062], [58037428, 58037529], [58039900, 58039960]]
ENST00000589113 [[58035723, 58035805], [58037428, 58037529], [58039900, 58039977], [58040292, 58040645], [58041968, 58042095]] [[58035723, 58035805], [58037428, 58037529], [58039900, 58039977], [58040292, 58040645], [58041968, 58042024]]
ENST00000493737 [[58035794, 58036062], [58037428, 58037529], [58039900, 58039977], [58040187, 58040327]] None
ENST00000586083 [[58036744, 58037529], [58039900, 58039977], [58040187, 58040645], [58041968, 58042073]] None
ENST00000477207 [[58039681, 58039977], [58040187, 58040645], [58041968, 58042098]] None
NM_016125 [[58029722, 58030472], [58031405, 58031507], [58033848, 58033914], [58034584, 58034743], [58035651, 58035805], [58037428, 58037529], [58039900, 58039977], [58040187, 58040645], [58041968, 58042117]] [[58030337, 58030472], [58031405, 58031507], [58033848, 58033914], [58034584, 58034743], [58035651, 58035805], [58037428, 58037529], [58039900, 58039977], [58040187, 58040645], [58041968, 58042024]]
Promoter
Chrom Start End Description
chr17 58042075 58042135 CAGE_peak_1_at_RNFT1_5end
chr17 58042442 58042453 CAGE_peak_2_at_RNFT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I060397 60397424 60399069 1.33 [{'connected_gene': 'USP32', 'score': 6.03}, {'connected_gene': 'RNFT1', 'score': 2.67}, {'connected_gene': 'PPM1D', 'score': 2.18}, {'connected_gene': 'CA4', 'score': 1.25}, {'connected_gene': 'BCAS3', 'score': 1.15}, {'connected_gene': 'GC17P060389', 'score': 0.44}, {'connected_gene': 'C17orf64', 'score': 0.44}, {'connected_gene': 'LOC105371850', 'score': 0.37}]
chr17 GH17I060387 60387933 60394410 2.62 [{'connected_gene': 'USP32', 'score': 568.48}, {'connected_gene': 'GC17P060389', 'score': 550.77}, {'connected_gene': 'C17orf64', 'score': 550.77}, {'connected_gene': 'NDUFB8P2', 'score': 31.1}, {'connected_gene': 'PPM1D', 'score': 25.26}, {'connected_gene': 'TUBD1', 'score': 21.31}, {'connected_gene': 'HEATR6', 'score': 17.11}, {'connected_gene': 'RPL32P32', 'score': 13.87}, {'connected_gene': 'RPS6KB1', 'score': 12.37}, {'connected_gene': 'CA4', 'score': 10.12}, {'connected_gene': 'ENSG00000274378', 'score': 7.79}, {'connected_gene': 'BCAS3', 'score': 6.18}, {'connected_gene': 'RNFT1', 'score': 2.01}, {'connected_gene': 'APPBP2', 'score': 1.32}]
chr17 GH17I059705 59705256 59710489 2.31 [{'connected_gene': 'VMP1', 'score': 550.77}, {'connected_gene': 'PTRH2', 'score': 550.77}, {'connected_gene': 'PPM1D', 'score': 24.62}, {'connected_gene': 'RPS6KB1', 'score': 23.93}, {'connected_gene': 'TUBD1', 'score': 21.98}, {'connected_gene': 'RNFT1', 'score': 15.24}, {'connected_gene': 'SKA2', 'score': 14.54}, {'connected_gene': 'NDUFB8P2', 'score': 14.16}, {'connected_gene': 'RNFT1-DT', 'score': 14.03}, {'connected_gene': 'LOC100996660', 'score': 14.01}, {'connected_gene': 'RNU6-450P', 'score': 10.56}, {'connected_gene': 'MIR21', 'score': 10.56}, {'connected_gene': 'HEATR6', 'score': 10.26}, {'connected_gene': 'TRIM37', 'score': 10.01}, {'connected_gene': 'DHX40', 'score': 6.7}, {'connected_gene': 'GC17M059723', 'score': 0.37}]
chr17 GH17I059801 59801866 59807148 1.65 [{'connected_gene': 'NDUFB8P2', 'score': 14.24}, {'connected_gene': 'RPS6KB1', 'score': 13.5}, {'connected_gene': 'PPM1D', 'score': 12.98}, {'connected_gene': 'RNFT1-DT', 'score': 12.36}, {'connected_gene': 'TUBD1', 'score': 11.55}, {'connected_gene': 'HEATR6', 'score': 10.26}, {'connected_gene': 'RNFT1', 'score': 9.85}, {'connected_gene': 'ENSG00000274378', 'score': 6.8}, {'connected_gene': 'DHX40', 'score': 4.56}, {'connected_gene': 'WFDC21P', 'score': 4.35}, {'connected_gene': 'VMP1', 'score': 1.65}, {'connected_gene': 'YPEL2', 'score': 1.11}, {'connected_gene': 'GC17M059791', 'score': 0.39}, {'connected_gene': 'GC17M059826', 'score': 0.34}]
chr17 GH17I059722 59722429 59724799 0.9 [{'connected_gene': 'NDUFB8P2', 'score': 14.16}, {'connected_gene': 'RPS6KB1', 'score': 13.44}, {'connected_gene': 'RNFT1-DT', 'score': 13.4}, {'connected_gene': 'PPM1D', 'score': 12.98}, {'connected_gene': 'TUBD1', 'score': 11.48}, {'connected_gene': 'HEATR6', 'score': 10.26}, {'connected_gene': 'ENSG00000274378', 'score': 7.08}, {'connected_gene': 'RNFT1', 'score': 4.98}, {'connected_gene': 'DHX40', 'score': 4.91}, {'connected_gene': 'GC17M059723', 'score': 0.77}, {'connected_gene': 'VMP1', 'score': 0.37}, {'connected_gene': 'PTRH2', 'score': 0.37}]
chr17 GH17I060089 60089001 60093469 1.42 [{'connected_gene': 'WFDC21P', 'score': 550.77}, {'connected_gene': 'HEATR6', 'score': 28.32}, {'connected_gene': 'ENSG00000274378', 'score': 15.75}, {'connected_gene': 'APPBP2', 'score': 14.92}, {'connected_gene': 'LOC100996660', 'score': 11.28}, {'connected_gene': 'SKA2', 'score': 10.51}, {'connected_gene': 'RNFT1', 'score': 2.52}, {'connected_gene': 'LOC105371849', 'score': 0.39}]
chr17 GH17I060093 60093812 60095801 0.87 [{'connected_gene': 'HEATR6', 'score': 27.3}, {'connected_gene': 'RNFT1', 'score': 4.28}, {'connected_gene': 'WFDC21P', 'score': 0.77}, {'connected_gene': 'LOC653653', 'score': 0.44}]
chr17 GH17I059751 59751300 59771668 1.75 [{'connected_gene': 'RPS6KB1', 'score': 35.02}, {'connected_gene': 'TUBD1', 'score': 23.01}, {'connected_gene': 'NDUFB8P2', 'score': 17.96}, {'connected_gene': 'APPBP2', 'score': 14.9}, {'connected_gene': 'RNFT1-DT', 'score': 14.89}, {'connected_gene': 'ENSG00000274378', 'score': 13.08}, {'connected_gene': 'PPM1D', 'score': 12.98}, {'connected_gene': 'ENSG00000224738', 'score': 12.88}, {'connected_gene': 'MIR21', 'score': 12.57}, {'connected_gene': 'RNU6-450P', 'score': 12.56}, {'connected_gene': 'LOC100996660', 'score': 11.07}, {'connected_gene': 'SKA2', 'score': 10.52}, {'connected_gene': 'HEATR6', 'score': 10.26}, {'connected_gene': 'CA4', 'score': 6.44}, {'connected_gene': 'DHX40', 'score': 5.54}, {'connected_gene': 'VMP1', 'score': 5.01}, {'connected_gene': 'RNFT1', 'score': 4.54}, {'connected_gene': 'WFDC21P', 'score': 4.38}, {'connected_gene': 'YPEL2', 'score': 1.65}, {'connected_gene': 'ENSG00000267637', 'score': 0.34}, {'connected_gene': 'GC17M059723', 'score': 0.29}]
chr17 GH17I059781 59781749 59793599 2.03 [{'connected_gene': 'RPS6KB1', 'score': 29.97}, {'connected_gene': 'TUBD1', 'score': 26.79}, {'connected_gene': 'HEATR6', 'score': 24.03}, {'connected_gene': 'PPM1D', 'score': 22.86}, {'connected_gene': 'RNFT1-DT', 'score': 16.42}, {'connected_gene': 'SKA2', 'score': 14.53}, {'connected_gene': 'LOC100996660', 'score': 14.02}, {'connected_gene': 'MIR21', 'score': 12.81}, {'connected_gene': 'RNU6-450P', 'score': 12.8}, {'connected_gene': 'TRIM37', 'score': 10.01}, {'connected_gene': 'VMP1', 'score': 7.43}, {'connected_gene': 'ENSG00000274378', 'score': 7.1}, {'connected_gene': 'DHX40', 'score': 6.53}, {'connected_gene': 'CA4', 'score': 6.25}, {'connected_gene': 'RNFT1', 'score': 5.82}, {'connected_gene': 'NDUFB8P2', 'score': 5.17}, {'connected_gene': 'WFDC21P', 'score': 4.94}, {'connected_gene': 'ENSG00000267637', 'score': 0.77}, {'connected_gene': 'GC17M059791', 'score': 0.44}]
chr17 GH17I059775 59775146 59777711 0.8 [{'connected_gene': 'RPS6KB1', 'score': 34.68}, {'connected_gene': 'TUBD1', 'score': 22.67}, {'connected_gene': 'RNFT1-DT', 'score': 16.41}, {'connected_gene': 'APPBP2', 'score': 14.72}, {'connected_gene': 'NDUFB8P2', 'score': 14.21}, {'connected_gene': 'MIR21', 'score': 12.99}, {'connected_gene': 'PPM1D', 'score': 12.98}, {'connected_gene': 'RNU6-450P', 'score': 12.98}, {'connected_gene': 'ENSG00000224738', 'score': 12.87}, {'connected_gene': 'VMP1', 'score': 10.77}, {'connected_gene': 'PTRH2', 'score': 10.77}, {'connected_gene': 'HEATR6', 'score': 10.26}, {'connected_gene': 'ENSG00000274378', 'score': 6.53}, {'connected_gene': 'DHX40', 'score': 5.15}, {'connected_gene': 'RNFT1', 'score': 4.73}, {'connected_gene': 'ENSG00000267637', 'score': 0.44}, {'connected_gene': 'GC17M059723', 'score': 0.25}]
chr17 GH17I059209 59209201 59211375 2.14 [{'connected_gene': 'SMG8', 'score': 564.72}, {'connected_gene': 'TUBD1', 'score': 46.29}, {'connected_gene': 'RPS6KB1', 'score': 45.88}, {'connected_gene': 'MKS1', 'score': 40.68}, {'connected_gene': 'HEATR6', 'score': 27.4}, {'connected_gene': 'TRIM37', 'score': 27.24}, {'connected_gene': 'RNFT1', 'score': 23.76}, {'connected_gene': 'NDUFB8P2', 'score': 22.59}, {'connected_gene': 'SKA2', 'score': 22.18}, {'connected_gene': 'DHX40', 'score': 18.8}, {'connected_gene': 'TSPOAP1', 'score': 13.19}, {'connected_gene': 'ENSG00000265303', 'score': 0.39}, {'connected_gene': 'GDPD1', 'score': 0.39}]
chr17 GH17I059344 59344731 59347141 0.59 [{'connected_gene': 'RNFT1', 'score': 15.2}, {'connected_gene': 'TEX14', 'score': 8.8}, {'connected_gene': 'RAD51C', 'score': 5.37}, {'connected_gene': 'PIR37538', 'score': 0.44}, {'connected_gene': 'YPEL2', 'score': 0.39}, {'connected_gene': 'ENSG00000278863', 'score': 0.37}]
chr17 GH17I059105 59105198 59108038 2.28 [{'connected_gene': 'TRIM37', 'score': 594.54}, {'connected_gene': 'ENSG00000224738', 'score': 550.77}, {'connected_gene': 'NDUFB8P2', 'score': 32.84}, {'connected_gene': 'RAD51C', 'score': 23.38}, {'connected_gene': 'MKS1', 'score': 22.88}, {'connected_gene': 'TUBD1', 'score': 19.81}, {'connected_gene': 'HEATR6', 'score': 19.69}, {'connected_gene': 'SMG8', 'score': 14.1}, {'connected_gene': 'RNFT1', 'score': 10.37}]
chr17 GH17I059508 59508373 59508582 0.63 [{'connected_gene': 'YPEL2', 'score': 12.81}, {'connected_gene': 'SMG8', 'score': 9.69}, {'connected_gene': 'RNFT1', 'score': 3.09}, {'connected_gene': 'LOC105371845', 'score': 0.44}, {'connected_gene': 'LINC01476', 'score': 0.37}]
chr17 GH17I059327 59327540 59333578 2.77 [{'connected_gene': 'YPEL2', 'score': 556.2}, {'connected_gene': 'RNFT1', 'score': 15.2}, {'connected_gene': 'NDUFB8P2', 'score': 14.1}, {'connected_gene': 'RPS6KB1', 'score': 13.36}, {'connected_gene': 'TUBD1', 'score': 11.41}, {'connected_gene': 'HEATR6', 'score': 10.23}, {'connected_gene': 'TEX14', 'score': 7.79}, {'connected_gene': 'SKA2', 'score': 5.22}, {'connected_gene': 'SNRPGP17', 'score': 0.25}]
chr17 GH17I059616 59616279 59623070 2.6 [{'connected_gene': 'CLTC', 'score': 550.77}, {'connected_gene': 'ENSG00000273702', 'score': 550.77}, {'connected_gene': 'TUBD1', 'score': 34.91}, {'connected_gene': 'RPS6KB1', 'score': 34.16}, {'connected_gene': 'HEATR6', 'score': 31.72}, {'connected_gene': 'SKA2', 'score': 27.31}, {'connected_gene': 'PPM1D', 'score': 24.62}, {'connected_gene': 'DHX40', 'score': 19.61}, {'connected_gene': 'RNFT1', 'score': 16.77}, {'connected_gene': 'NDUFB8P2', 'score': 14.13}, {'connected_gene': 'LOC100996660', 'score': 12.9}, {'connected_gene': 'APPBP2', 'score': 11.42}, {'connected_gene': 'PPM1E', 'score': 10.74}, {'connected_gene': 'TRIM37', 'score': 10.4}, {'connected_gene': 'SMG8', 'score': 10.18}, {'connected_gene': 'PRR11', 'score': 4.81}, {'connected_gene': 'YPEL2', 'score': 1.72}, {'connected_gene': 'VMP1', 'score': 1.7}, {'connected_gene': 'GC17P059616', 'score': 0.77}]
chr17 GH17I059963 59963431 59965568 2.05 [{'connected_gene': 'RNFT1-DT', 'score': 568.19}, {'connected_gene': 'RNFT1', 'score': 561.11}, {'connected_gene': 'SMG8', 'score': 22.55}, {'connected_gene': 'PPM1D', 'score': 22.2}, {'connected_gene': 'TUBD1', 'score': 10.76}, {'connected_gene': 'HEATR6', 'score': 10.66}, {'connected_gene': 'NDUFB8P2', 'score': 10.43}, {'connected_gene': 'ENSG00000274378', 'score': 9.6}, {'connected_gene': 'DHX40', 'score': 6.59}, {'connected_gene': 'ENSG00000267318', 'score': 0.34}, {'connected_gene': 'TBC1D3P1-DHX40P1', 'score': 0.23}]
chr17 GH17I059748 59748700 59750129 0.6 [{'connected_gene': 'RNFT1-DT', 'score': 13.99}, {'connected_gene': 'MIR21', 'score': 12.29}, {'connected_gene': 'RNU6-450P', 'score': 12.28}, {'connected_gene': 'RPS6KB1', 'score': 11.61}, {'connected_gene': 'TUBD1', 'score': 11.61}, {'connected_gene': 'VMP1', 'score': 11.26}, {'connected_gene': 'PTRH2', 'score': 11.26}, {'connected_gene': 'ENSG00000274378', 'score': 5.94}, {'connected_gene': 'DHX40', 'score': 5.85}, {'connected_gene': 'RNFT1', 'score': 4.96}, {'connected_gene': 'GC17M059723', 'score': 0.34}, {'connected_gene': 'ENSG00000267637', 'score': 0.28}]
chr17 GH17I059151 59151480 59161100 2.56 [{'connected_gene': 'GC17M059154', 'score': 550.77}, {'connected_gene': 'PRR11', 'score': 550.77}, {'connected_gene': 'SKA2', 'score': 550.77}, {'connected_gene': 'MKS1', 'score': 64.16}, {'connected_gene': 'NDUFB8P2', 'score': 49.3}, {'connected_gene': 'TUBD1', 'score': 46.31}, {'connected_gene': 'TRIM37', 'score': 28.38}, {'connected_gene': 'RPS6KB1', 'score': 24.51}, {'connected_gene': 'SMG8', 'score': 24.19}, {'connected_gene': 'RNFT1', 'score': 23.76}, {'connected_gene': 'HEATR6', 'score': 19.07}, {'connected_gene': 'RAD51C', 'score': 16.1}, {'connected_gene': 'RNU2-58P', 'score': 11.33}, {'connected_gene': 'DHX40', 'score': 10.01}, {'connected_gene': 'GC17M059158', 'score': 0.77}, {'connected_gene': 'GC17M059152', 'score': 0.77}]
chr17 GH17I060025 60025600 60027201 0.68 [{'connected_gene': 'ENSG00000274378', 'score': 550.77}, {'connected_gene': 'RNFT1', 'score': 15.38}, {'connected_gene': 'PPM1D', 'score': 13.46}, {'connected_gene': 'GC17M060029', 'score': 0.77}, {'connected_gene': 'GC17P059994', 'score': 0.29}]
chr17 GH17I059824 59824790 59860981 2.82 [{'connected_gene': 'GC17M059841', 'score': 550.77}, {'connected_gene': 'GC17M059843', 'score': 550.77}, {'connected_gene': 'GC17P059842', 'score': 550.77}, {'connected_gene': 'GC17P059845', 'score': 550.77}, {'connected_gene': 'GC17P059844', 'score': 550.77}, {'connected_gene': 'MIR21', 'score': 550.77}, {'connected_gene': 'GC17P059843', 'score': 550.77}, {'connected_gene': 'GC17M059842', 'score': 550.77}, {'connected_gene': 'PPM1D', 'score': 69.38}, {'connected_gene': 'TUBD1', 'score': 57.04}, {'connected_gene': 'RPS6KB1', 'score': 50.8}, {'connected_gene': 'NDUFB8P2', 'score': 37.69}, {'connected_gene': 'HEATR6', 'score': 32.24}, {'connected_gene': 'RNFT1-DT', 'score': 16.67}, {'connected_gene': 'DHX40', 'score': 15.39}, {'connected_gene': 'VMP1', 'score': 12.38}, {'connected_gene': 'PTRH2', 'score': 11.98}, {'connected_gene': 'ENSG00000274378', 'score': 9.8}, {'connected_gene': 'RNFT1', 'score': 8.51}, {'connected_gene': 'CLTC', 'score': 5.52}, {'connected_gene': 'SKA2', 'score': 4.55}, {'connected_gene': 'CA4', 'score': 1.98}, {'connected_gene': 'YPEL2', 'score': 1.28}, {'connected_gene': 'RNU6-450P', 'score': 0.77}, {'connected_gene': 'GC17M059848', 'score': 0.77}, {'connected_gene': 'GC17P059837', 'score': 0.44}, {'connected_gene': 'GC17M059826', 'score': 0.37}]

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