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
ENST00000531590 [[66624117, 66624335], [66625205, 66625261]] None
ENST00000393952 [[66624588, 66624767], [66625205, 66626347], [66627717, 66627946]] [[66625215, 66626347], [66627717, 66627842]]
ENST00000309602 [[66624972, 66626564], [66627107, 66627946]] [[66625215, 66626564], [66627107, 66627666]]
NM_024036 [[66624875, 66626564], [66627107, 66627946]] [[66625215, 66626564], [66627107, 66627666]]
Promoter
Chrom Start End Description
chr11 66624034 66624090 CAGE_peak_4_at_LRFN4_5end
chr11 66624154 66624209 CAGE_peak_3_at_LRFN4_5end
chr11 66624212 66624250 CAGE_peak_5_at_LRFN4_5end
chr11 66624527 66624592 CAGE_peak_1_at_LRFN4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I066886 66886170 66887975 0.91 [{'connected_gene': 'RCE1', 'score': 24.07}, {'connected_gene': 'EIF1AD', 'score': 20.54}, {'connected_gene': 'RBM14', 'score': 18.52}, {'connected_gene': 'KDM2A', 'score': 17.01}, {'connected_gene': 'RBM4', 'score': 16.0}, {'connected_gene': 'ENSG00000258297', 'score': 15.68}, {'connected_gene': 'SART1', 'score': 14.04}, {'connected_gene': 'SF3B2', 'score': 13.0}, {'connected_gene': 'RAD9A', 'score': 12.76}, {'connected_gene': 'LRFN4', 'score': 12.19}, {'connected_gene': 'PC', 'score': 12.09}, {'connected_gene': 'ENSG00000255320', 'score': 11.52}, {'connected_gene': 'RNU7-23P', 'score': 11.33}, {'connected_gene': 'LOC105369352', 'score': 11.31}, {'connected_gene': 'ENSG00000255038', 'score': 11.18}, {'connected_gene': 'ENSG00000245156', 'score': 10.89}, {'connected_gene': 'LOC100505504', 'score': 10.16}, {'connected_gene': 'RHOD', 'score': 10.05}, {'connected_gene': 'CCS', 'score': 9.83}, {'connected_gene': 'ACTN3', 'score': 5.04}, {'connected_gene': 'GC11M066908', 'score': 0.34}, {'connected_gene': 'GC11M066909', 'score': 0.34}]
chr11 GH11I066841 66841549 66845165 2.02 [{'connected_gene': 'RCE1', 'score': 550.77}, {'connected_gene': 'C11orf80', 'score': 18.98}, {'connected_gene': 'CTSF', 'score': 17.18}, {'connected_gene': 'ACTN3', 'score': 15.92}, {'connected_gene': 'PC', 'score': 14.48}, {'connected_gene': 'CDK2AP2', 'score': 4.68}, {'connected_gene': 'RIN1', 'score': 4.21}, {'connected_gene': 'LRFN4', 'score': 0.39}]
chr11 GH11I066846 66846380 66847156 0.31 [{'connected_gene': 'RCE1', 'score': 0.77}, {'connected_gene': 'LRFN4', 'score': 0.44}]
chr11 GH11I066860 66860150 66861048 0.49 [{'connected_gene': 'ACTN3', 'score': 22.52}, {'connected_gene': 'LRFN4', 'score': 0.77}, {'connected_gene': 'GC11M066908', 'score': 0.25}, {'connected_gene': 'GC11M066909', 'score': 0.25}, {'connected_gene': 'PC', 'score': 0.15}]
chr11 GH11I066879 66879784 66880601 0.69 [{'connected_gene': 'CTSF', 'score': 12.47}, {'connected_gene': 'RCE1', 'score': 12.33}, {'connected_gene': 'LRFN4', 'score': 12.09}, {'connected_gene': 'PC', 'score': 11.94}, {'connected_gene': 'RNU7-23P', 'score': 11.23}, {'connected_gene': 'RHOD', 'score': 11.02}, {'connected_gene': 'GC11M066908', 'score': 0.31}, {'connected_gene': 'GC11M066909', 'score': 0.31}]
chr11 GH11I066889 66889352 66890833 0.46 [{'connected_gene': 'CTSF', 'score': 14.97}, {'connected_gene': 'LRFN4', 'score': 11.56}, {'connected_gene': 'PC', 'score': 11.47}, {'connected_gene': 'RNU7-23P', 'score': 11.37}, {'connected_gene': 'ACTN3', 'score': 7.87}, {'connected_gene': 'CDK2AP2', 'score': 4.77}, {'connected_gene': 'GC11M066908', 'score': 0.37}, {'connected_gene': 'GC11M066909', 'score': 0.37}]
chr11 GH11I066868 66868310 66869316 1.05 [{'connected_gene': 'EIF1AD', 'score': 13.37}, {'connected_gene': 'SART1', 'score': 13.36}, {'connected_gene': 'CORO1B', 'score': 13.28}, {'connected_gene': 'SF3B2', 'score': 11.9}, {'connected_gene': 'ENSG00000258297', 'score': 11.27}, {'connected_gene': 'ENSG00000255320', 'score': 10.74}, {'connected_gene': 'RAD9A', 'score': 10.68}, {'connected_gene': 'PC', 'score': 10.21}, {'connected_gene': 'KDM2A', 'score': 9.91}, {'connected_gene': 'RPL37P2', 'score': 9.87}, {'connected_gene': 'ACTN3', 'score': 5.09}, {'connected_gene': 'LRFN4', 'score': 0.39}, {'connected_gene': 'GC11M066908', 'score': 0.28}, {'connected_gene': 'GC11M066909', 'score': 0.28}]
chr11 GH11I066676 66676410 66679232 2.06 [{'connected_gene': 'RBM4B', 'score': 550.77}, {'connected_gene': 'GC11P066677', 'score': 550.77}, {'connected_gene': 'RN7SL12P', 'score': 11.48}, {'connected_gene': 'SPTBN2', 'score': 11.44}, {'connected_gene': 'C11orf80', 'score': 11.41}, {'connected_gene': 'LRFN4', 'score': 11.17}, {'connected_gene': 'PC', 'score': 11.13}, {'connected_gene': 'ZDHHC24', 'score': 10.81}, {'connected_gene': 'ACTN3', 'score': 10.81}, {'connected_gene': 'RBM14-RBM4', 'score': 10.75}, {'connected_gene': 'RBM14', 'score': 10.72}, {'connected_gene': 'RNU4-39P', 'score': 10.72}, {'connected_gene': 'RNU7-23P', 'score': 10.2}, {'connected_gene': 'RHOD', 'score': 9.27}, {'connected_gene': 'ANKRD13D', 'score': 9.08}]
chr11 GH11I066799 66799749 66802703 0.59 [{'connected_gene': 'C11orf80', 'score': 31.29}, {'connected_gene': 'ACTN3', 'score': 27.69}, {'connected_gene': 'RCE1', 'score': 11.89}, {'connected_gene': 'SPTBN2', 'score': 11.45}, {'connected_gene': 'RN7SL12P', 'score': 11.43}, {'connected_gene': 'LRFN4', 'score': 11.2}, {'connected_gene': 'PC', 'score': 11.08}, {'connected_gene': 'RHOD', 'score': 9.33}, {'connected_gene': 'LOC100505504', 'score': 9.31}, {'connected_gene': 'GC11M066772', 'score': 0.31}]
chr11 GH11I066852 66852210 66852359 0.46 [{'connected_gene': 'LRFN4', 'score': 0.77}, {'connected_gene': 'RCE1', 'score': 0.44}, {'connected_gene': 'PC', 'score': 0.14}]
chr11 GH11I066851 66851717 66852065 0.38 [{'connected_gene': 'LRFN4', 'score': 0.77}, {'connected_gene': 'RCE1', 'score': 0.44}, {'connected_gene': 'PC', 'score': 0.14}]
chr11 GH11I066854 66854998 66858502 2.22 [{'connected_gene': 'LRFN4', 'score': 567.08}, {'connected_gene': 'ENSG00000258297', 'score': 17.21}, {'connected_gene': 'RBM4', 'score': 14.33}, {'connected_gene': 'RBM14', 'score': 13.21}, {'connected_gene': 'EIF1AD', 'score': 13.05}, {'connected_gene': 'ENSG00000255320', 'score': 12.45}, {'connected_gene': 'CORO1B', 'score': 11.93}, {'connected_gene': 'MUS81', 'score': 11.27}, {'connected_gene': 'ENSG00000245156', 'score': 11.26}, {'connected_gene': 'SSH3', 'score': 11.21}, {'connected_gene': 'KDM2A', 'score': 11.2}, {'connected_gene': 'SART1', 'score': 11.08}, {'connected_gene': 'MRPL11', 'score': 10.49}, {'connected_gene': 'SPTBN2', 'score': 4.46}, {'connected_gene': 'ACTN3', 'score': 4.31}, {'connected_gene': 'LOC101928069', 'score': 4.08}, {'connected_gene': 'GC11M066908', 'score': 0.23}, {'connected_gene': 'GC11M066909', 'score': 0.23}, {'connected_gene': 'PC', 'score': 0.15}]
chr11 GH11I066865 66864803 66867847 0.8 [{'connected_gene': 'LRFN4', 'score': 12.34}, {'connected_gene': 'PC', 'score': 10.48}, {'connected_gene': 'RHOD', 'score': 9.83}, {'connected_gene': 'GC11M066908', 'score': 0.26}, {'connected_gene': 'GC11M066909', 'score': 0.26}]
chr11 GH11I066859 66859343 66860007 0.59 [{'connected_gene': 'LRFN4', 'score': 0.77}, {'connected_gene': 'GC11M066908', 'score': 0.25}, {'connected_gene': 'GC11M066909', 'score': 0.25}, {'connected_gene': 'PC', 'score': 0.15}]
chr11 GH11I066895 66895122 66896590 0.31 [{'connected_gene': 'LRFN4', 'score': 27.53}, {'connected_gene': 'RNU7-23P', 'score': 12.22}, {'connected_gene': 'PC', 'score': 11.25}, {'connected_gene': 'SYT12', 'score': 10.71}, {'connected_gene': 'RHOD', 'score': 10.49}, {'connected_gene': 'CLCF1', 'score': 10.22}, {'connected_gene': 'ENSG00000256514', 'score': 10.22}, {'connected_gene': 'RNU1-84P', 'score': 9.94}, {'connected_gene': 'BRD9P1', 'score': 9.94}, {'connected_gene': 'ZDHHC24', 'score': 9.93}, {'connected_gene': 'ACTN3', 'score': 9.93}, {'connected_gene': 'LOC100505504', 'score': 9.63}, {'connected_gene': 'GC11M066908', 'score': 0.39}, {'connected_gene': 'GC11M066909', 'score': 0.39}]
chr11 GH11I066694 66694350 66695350 1.21 [{'connected_gene': 'SPTBN2', 'score': 12.14}, {'connected_gene': 'C11orf80', 'score': 12.09}, {'connected_gene': 'RCE1', 'score': 11.76}, {'connected_gene': 'ZDHHC24', 'score': 10.99}, {'connected_gene': 'ACTN3', 'score': 10.99}, {'connected_gene': 'LRFN4', 'score': 10.7}, {'connected_gene': 'PC', 'score': 10.67}, {'connected_gene': 'RNU7-23P', 'score': 10.47}, {'connected_gene': 'BRD9P1', 'score': 10.26}, {'connected_gene': 'RNU1-84P', 'score': 10.26}, {'connected_gene': 'NPAS4', 'score': 9.9}, {'connected_gene': 'ENSG00000201733', 'score': 9.59}, {'connected_gene': 'RBM4B', 'score': 0.37}, {'connected_gene': 'RN7SL12P', 'score': 0.37}]
chr11 GH11I066864 66864630 66864779 0.73 [{'connected_gene': 'SPTBN2', 'score': 1.9}, {'connected_gene': 'PELI3', 'score': 1.24}, {'connected_gene': 'LRFN4', 'score': 0.44}, {'connected_gene': 'GC11M066908', 'score': 0.26}, {'connected_gene': 'GC11M066909', 'score': 0.26}, {'connected_gene': 'PC', 'score': 0.16}]
chr11 GH11I066636 66636413 66640258 2.26 [{'connected_gene': 'RBM4', 'score': 576.95}, {'connected_gene': 'ACTN3', 'score': 47.42}, {'connected_gene': 'EIF1AD', 'score': 44.56}, {'connected_gene': 'RBM14', 'score': 37.67}, {'connected_gene': 'KDM2A', 'score': 34.75}, {'connected_gene': 'SART1', 'score': 25.92}, {'connected_gene': 'ENSG00000255320', 'score': 23.48}, {'connected_gene': 'ENSG00000258297', 'score': 23.4}, {'connected_gene': 'CORO1B', 'score': 21.99}, {'connected_gene': 'RELA', 'score': 21.68}, {'connected_gene': 'LOC105369352', 'score': 21.31}, {'connected_gene': 'KAT5', 'score': 21.23}, {'connected_gene': 'RAD9A', 'score': 20.33}, {'connected_gene': 'SF3B2', 'score': 19.87}, {'connected_gene': 'MRPL11', 'score': 19.22}, {'connected_gene': 'MUS81', 'score': 15.17}, {'connected_gene': 'RAB1B', 'score': 14.57}, {'connected_gene': 'ENSG00000245156', 'score': 12.4}, {'connected_gene': 'RBM4B', 'score': 12.33}, {'connected_gene': 'RNU4-39P', 'score': 11.4}, {'connected_gene': 'RBM14-RBM4', 'score': 11.4}, {'connected_gene': 'ZDHHC24', 'score': 11.31}, {'connected_gene': 'CLCF1', 'score': 11.13}, {'connected_gene': 'BRMS1', 'score': 10.07}, {'connected_gene': 'ENSG00000254461', 'score': 9.73}, {'connected_gene': 'LRFN4', 'score': 4.83}, {'connected_gene': 'PIR40941', 'score': 0.37}]
chr11 GH11I066891 66891672 66893510 1.68 [{'connected_gene': 'RAD9A', 'score': 24.09}, {'connected_gene': 'RCE1', 'score': 12.63}, {'connected_gene': 'LRFN4', 'score': 12.21}, {'connected_gene': 'RNU7-23P', 'score': 11.32}, {'connected_gene': 'SYT12', 'score': 11.16}, {'connected_gene': 'ACTN3', 'score': 5.02}, {'connected_gene': 'CDK2AP2', 'score': 4.88}, {'connected_gene': 'CLCF1', 'score': 1.27}, {'connected_gene': 'RBM4', 'score': 1.23}, {'connected_gene': 'GC11M066908', 'score': 0.37}, {'connected_gene': 'GC11M066909', 'score': 0.37}, {'connected_gene': 'PC', 'score': 0.2}]
chr11 GH11I066903 66903850 66909415 1.82 [{'connected_gene': 'PC', 'score': 575.34}, {'connected_gene': 'GC11M066908', 'score': 550.77}, {'connected_gene': 'GC11M066909', 'score': 550.77}, {'connected_gene': 'C11orf80', 'score': 18.89}, {'connected_gene': 'RHOD', 'score': 18.42}, {'connected_gene': 'ACTN3', 'score': 16.0}, {'connected_gene': 'CTSF', 'score': 13.46}, {'connected_gene': 'RIN1', 'score': 12.58}, {'connected_gene': 'C11orf86', 'score': 10.91}, {'connected_gene': 'LRFN4', 'score': 10.85}, {'connected_gene': 'SYT12', 'score': 10.73}, {'connected_gene': 'LOC100505504', 'score': 9.63}]
chr11 GH11I067026 67026585 67029496 1.05 [{'connected_gene': 'RHOD', 'score': 23.26}, {'connected_gene': 'SYT12', 'score': 11.84}, {'connected_gene': 'RNU7-23P', 'score': 10.93}, {'connected_gene': 'PC', 'score': 10.76}, {'connected_gene': 'LRFN4', 'score': 4.67}, {'connected_gene': 'MIR6860', 'score': 0.37}]
chr11 GH11I066880 66880712 66884379 1.29 [{'connected_gene': 'RHOD', 'score': 22.37}, {'connected_gene': 'C11orf80', 'score': 19.65}, {'connected_gene': 'ACTN3', 'score': 16.62}, {'connected_gene': 'CTSF', 'score': 14.59}, {'connected_gene': 'RAD9A', 'score': 13.59}, {'connected_gene': 'RCE1', 'score': 12.33}, {'connected_gene': 'LRFN4', 'score': 12.2}, {'connected_gene': 'PC', 'score': 12.08}, {'connected_gene': 'RNU7-23P', 'score': 11.23}, {'connected_gene': 'LOC100505504', 'score': 10.16}, {'connected_gene': 'ZDHHC24', 'score': 10.0}, {'connected_gene': 'ENSG00000250105', 'score': 6.71}, {'connected_gene': 'CDK2AP2', 'score': 4.8}, {'connected_gene': 'GC11M066908', 'score': 0.31}, {'connected_gene': 'GC11M066909', 'score': 0.31}]
chr11 GH11I067030 67030408 67034665 1.44 [{'connected_gene': 'RHOD', 'score': 11.93}, {'connected_gene': 'PC', 'score': 10.95}, {'connected_gene': 'LRFN4', 'score': 10.85}, {'connected_gene': 'SYT12', 'score': 7.45}, {'connected_gene': 'CTSF', 'score': 5.39}, {'connected_gene': 'MIR6860', 'score': 0.39}]
chr11 GH11I066901 66901657 66903349 1.13 [{'connected_gene': 'RHOD', 'score': 18.42}, {'connected_gene': 'PC', 'score': 11.26}, {'connected_gene': 'LRFN4', 'score': 10.86}, {'connected_gene': 'SYT12', 'score': 10.73}, {'connected_gene': 'LOC100505504', 'score': 9.63}, {'connected_gene': 'GC11M066908', 'score': 0.44}, {'connected_gene': 'GC11M066909', 'score': 0.44}]
chr11 GH11I066686 66685290 66685479 0.2 [{'connected_gene': 'RN7SL12P', 'score': 11.52}, {'connected_gene': 'SPTBN2', 'score': 11.47}, {'connected_gene': 'C11orf80', 'score': 11.43}, {'connected_gene': 'LRFN4', 'score': 11.16}, {'connected_gene': 'PC', 'score': 11.13}, {'connected_gene': 'ZDHHC24', 'score': 10.82}, {'connected_gene': 'ACTN3', 'score': 10.82}, {'connected_gene': 'RBM14-RBM4', 'score': 10.74}, {'connected_gene': 'RBM14', 'score': 10.36}, {'connected_gene': 'RNU4-39P', 'score': 10.35}, {'connected_gene': 'RNU7-23P', 'score': 10.2}, {'connected_gene': 'RHOD', 'score': 9.27}, {'connected_gene': 'RBM4B', 'score': 0.44}]
chr11 GH11I066685 66685513 66687517 0.2 [{'connected_gene': 'RN7SL12P', 'score': 11.71}, {'connected_gene': 'SPTBN2', 'score': 11.66}, {'connected_gene': 'C11orf80', 'score': 11.62}, {'connected_gene': 'LRFN4', 'score': 11.17}, {'connected_gene': 'PC', 'score': 11.13}, {'connected_gene': 'ZDHHC24', 'score': 10.81}, {'connected_gene': 'ACTN3', 'score': 10.81}, {'connected_gene': 'RBM14-RBM4', 'score': 10.74}, {'connected_gene': 'LOC100505504', 'score': 10.5}, {'connected_gene': 'RBM14', 'score': 10.42}, {'connected_gene': 'RNU4-39P', 'score': 10.41}, {'connected_gene': 'RNU7-23P', 'score': 10.2}, {'connected_gene': 'RHOD', 'score': 9.44}, {'connected_gene': 'RBM4B', 'score': 0.44}]
chr11 GH11I066933 66933150 66937767 1.12 [{'connected_gene': 'MIR3163', 'score': 550.77}, {'connected_gene': 'RAD9A', 'score': 15.87}, {'connected_gene': 'PC', 'score': 11.77}, {'connected_gene': 'SYT12', 'score': 11.2}, {'connected_gene': 'LRFN4', 'score': 11.07}, {'connected_gene': 'RHOD', 'score': 10.44}, {'connected_gene': 'LOC101928069', 'score': 5.0}, {'connected_gene': 'ACTN3', 'score': 4.4}, {'connected_gene': 'EIF1AD', 'score': 4.01}, {'connected_gene': 'GC11P066933', 'score': 0.77}, {'connected_gene': 'LOC105369355', 'score': 0.37}]

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