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
ENST00000366855 [[167342991, 167343279], [167344531, 167344606], [167347578, 167347624], [167352382, 167352496], [167356506, 167356577], [167360169, 167360227], [167362057, 167362113], [167365975, 167366036], [167368982, 167369115], [167369584, 167370099]] [[167343075, 167343279], [167344531, 167344606], [167347578, 167347624], [167352382, 167352496], [167356506, 167356577], [167360169, 167360227], [167362057, 167362113], [167365975, 167366008]]
ENST00000508775 [[167342991, 167343279], [167344531, 167344606], [167347578, 167347624], [167352382, 167352496], [167356506, 167356577], [167360169, 167360227], [167362057, 167362113], [167365975, 167366036], [167369584, 167370190]] [[167343075, 167343279], [167344531, 167344606], [167347578, 167347624], [167352382, 167352496], [167356506, 167356577], [167360169, 167360227], [167362057, 167362113], [167365975, 167366036], [167369584, 167369670]]
ENST00000421787 [[167343003, 167343279], [167344531, 167344606], [167347578, 167347624], [167352382, 167352496], [167356506, 167357297], [167360169, 167360227], [167362057, 167362113], [167365975, 167366036], [167369584, 167370031]] [[167357192, 167357297], [167360169, 167360227], [167362057, 167362113], [167365975, 167366036], [167369584, 167369670]]
ENST00000510083 [[167343005, 167343279], [167344531, 167346537]] None
ENST00000476238 [[167343027, 167343279], [167344531, 167344606], [167347578, 167347624], [167352382, 167352496], [167356506, 167356577], [167360169, 167360227], [167362057, 167362113], [167365975, 167366036], [167369584, 167369679], [167370613, 167370672]] [[167343075, 167343279], [167344531, 167344606], [167347578, 167347624], [167352382, 167352496], [167356506, 167356577], [167360169, 167360227], [167362057, 167362113], [167365975, 167366036], [167369584, 167369670]]
ENST00000028008 [[167343032, 167343279], [167344531, 167344606], [167347578, 167347624], [167352382, 167352496], [167356506, 167356577], [167360169, 167360227], [167362053, 167362113], [167365975, 167366036], [167369584, 167370072]] [[167360218, 167360227], [167362053, 167362113], [167365975, 167366036], [167369584, 167369670]]
ENST00000478180 [[167343085, 167343279], [167344531, 167344606], [167347578, 167347624], [167352382, 167352496], [167356506, 167356577], [167360169, 167360227], [167362057, 167362113], [167365975, 167366036], [167369584, 167369679], [167370436, 167370629]] [[167343085, 167343279], [167344531, 167344606], [167347578, 167347624], [167352382, 167352496], [167356506, 167356577], [167360169, 167360227], [167362057, 167362113], [167365975, 167366036], [167369584, 167369670]]
ENST00000467705 [[167343120, 167343279], [167344531, 167344606], [167347578, 167347624], [167352382, 167352496], [167356506, 167356577], [167357482, 167357541]] None
ENST00000499370 [[167346852, 167347624], [167352382, 167352496], [167356506, 167356577], [167360169, 167360227], [167362057, 167362113], [167365975, 167367068]] None
ENST00000358165 [[167346862, 167348580], [167352083, 167352496], [167356506, 167356577], [167370436, 167370679]] None
ENST00000496851 [[167346912, 167347401], [167347578, 167347624], [167352382, 167352496], [167356506, 167356577], [167360169, 167360227], [167362057, 167362113], [167365975, 167366022]] None
ENST00000509073 [[167347526, 167347624], [167352382, 167352496], [167356506, 167356727]] None
NM_003730 [[167343003, 167343279], [167344531, 167344606], [167347578, 167347624], [167352382, 167352496], [167356506, 167356577], [167360169, 167360227], [167362057, 167362113], [167365975, 167366036], [167369584, 167370077]] [[167343075, 167343279], [167344531, 167344606], [167347578, 167347624], [167352382, 167352496], [167356506, 167356577], [167360169, 167360227], [167362057, 167362113], [167365975, 167366036], [167369584, 167369670]]
Promoter
Chrom Start End Description
chr6 167369953 167369964 CAGE_peak_4_at_RNASET2_5end
chr6 167370025 167370046 CAGE_peak_1_at_RNASET2_5end
chr6 167370049 167370094 CAGE_peak_2_at_RNASET2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I166988 166988454 166989385 0.49 [{'connected_gene': 'RNASET2', 'score': 56.13}, {'connected_gene': 'ENSG00000249141', 'score': 12.39}, {'connected_gene': 'RPS6KA2', 'score': 10.68}, {'connected_gene': 'RPS6KA2-AS1', 'score': 10.68}, {'connected_gene': 'CCR6', 'score': 10.64}, {'connected_gene': 'PIR40836', 'score': 0.44}, {'connected_gene': 'LOC105378120', 'score': 0.39}]
chr6 GH06I166948 166948603 166960551 2.82 [{'connected_gene': 'RNASET2', 'score': 606.78}, {'connected_gene': 'ENSG00000249141', 'score': 550.77}, {'connected_gene': 'CCR6', 'score': 4.57}, {'connected_gene': 'GPR31', 'score': 2.05}, {'connected_gene': 'LOC105378119', 'score': 0.44}]
chr6 GH06I167046 167046337 167048554 1.21 [{'connected_gene': 'RNASET2', 'score': 31.7}, {'connected_gene': 'CCR6', 'score': 12.62}, {'connected_gene': 'FGFR1OP', 'score': 11.99}, {'connected_gene': 'LOC105378120', 'score': 11.99}, {'connected_gene': 'ENSG00000249141', 'score': 10.74}, {'connected_gene': 'GPR31', 'score': 2.71}, {'connected_gene': 'GC06P167051', 'score': 0.77}, {'connected_gene': 'PIR56971', 'score': 0.44}, {'connected_gene': 'GC06P167042', 'score': 0.44}, {'connected_gene': 'ENSG00000272980', 'score': 0.25}]
chr6 GH06I167073 167073226 167074844 0.46 [{'connected_gene': 'RNASET2', 'score': 18.4}, {'connected_gene': 'CCR6', 'score': 11.54}, {'connected_gene': 'PIR53334', 'score': 0.44}, {'connected_gene': 'GC06P167051', 'score': 0.34}, {'connected_gene': 'ENSG00000272980', 'score': 0.19}]
chr6 GH06I166487 166487220 166489216 1.18 [{'connected_gene': 'RNASET2', 'score': 7.33}, {'connected_gene': 'SFT2D1', 'score': 5.2}, {'connected_gene': 'RPS6KA2-IT1', 'score': 0.34}, {'connected_gene': 'MIR1913', 'score': 0.34}, {'connected_gene': 'RPS6KA2', 'score': 0.05}]
chr6 GH06I167089 167089333 167096607 1.58 [{'connected_gene': 'RNASET2', 'score': 20.72}, {'connected_gene': 'FGFR1OP', 'score': 10.85}, {'connected_gene': 'LOC105378120', 'score': 10.85}, {'connected_gene': 'CCR6', 'score': 10.26}, {'connected_gene': 'GPR31', 'score': 9.63}, {'connected_gene': 'PIR47545', 'score': 0.77}, {'connected_gene': 'GC06P167097', 'score': 0.77}, {'connected_gene': 'PIR45022', 'score': 0.77}, {'connected_gene': 'GC06M167096', 'score': 0.77}, {'connected_gene': 'PIR53334', 'score': 0.39}, {'connected_gene': 'ENSG00000272980', 'score': 0.16}]
chr6 GH06I167127 167127668 167128426 0.74 [{'connected_gene': 'RNASET2', 'score': 21.22}, {'connected_gene': 'ENSG00000249141', 'score': 10.6}, {'connected_gene': 'LOC105378122', 'score': 0.44}, {'connected_gene': 'TCP10L2', 'score': 0.37}, {'connected_gene': 'CCR6', 'score': 0.37}, {'connected_gene': 'LOC105378124', 'score': 0.37}, {'connected_gene': 'ENSG00000272980', 'score': 0.13}]
chr6 GH06I167124 167124673 167124822 0.69 [{'connected_gene': 'RNASET2', 'score': 10.61}, {'connected_gene': 'ENSG00000249141', 'score': 10.61}, {'connected_gene': 'LOC105378122', 'score': 0.77}, {'connected_gene': 'CCR6', 'score': 0.39}, {'connected_gene': 'TCP10L2', 'score': 0.34}, {'connected_gene': 'LOC105378124', 'score': 0.34}, {'connected_gene': 'ENSG00000272980', 'score': 0.13}]
chr6 GH06I167126 167126153 167126874 0.2 [{'connected_gene': 'RNASET2', 'score': 20.89}, {'connected_gene': 'ENSG00000249141', 'score': 10.6}, {'connected_gene': 'LOC105378122', 'score': 0.77}, {'connected_gene': 'CCR6', 'score': 0.39}, {'connected_gene': 'TCP10L2', 'score': 0.37}, {'connected_gene': 'LOC105378124', 'score': 0.37}, {'connected_gene': 'ENSG00000272980', 'score': 0.13}]
chr6 GH06I167030 167030134 167030901 0.6 [{'connected_gene': 'RNASET2', 'score': 24.04}, {'connected_gene': 'LOC105378120', 'score': 11.7}, {'connected_gene': 'FGFR1OP', 'score': 11.7}, {'connected_gene': 'CCR6', 'score': 11.33}, {'connected_gene': 'PIR56971', 'score': 0.39}, {'connected_gene': 'GC06P167042', 'score': 0.39}, {'connected_gene': 'ENSG00000272980', 'score': 0.29}]
chr6 GH06I167102 167102522 167104210 1.17 [{'connected_gene': 'RNASET2', 'score': 11.89}, {'connected_gene': 'LOC105378120', 'score': 10.55}, {'connected_gene': 'FGFR1OP', 'score': 10.55}, {'connected_gene': 'CCR6', 'score': 0.44}, {'connected_gene': 'GC06M167096', 'score': 0.44}, {'connected_gene': 'ENSG00000272980', 'score': 0.15}]
chr6 GH06I167098 167098364 167099626 0.87 [{'connected_gene': 'RNASET2', 'score': 16.2}, {'connected_gene': 'LOC105378120', 'score': 10.85}, {'connected_gene': 'FGFR1OP', 'score': 10.85}, {'connected_gene': 'GC06M167096', 'score': 0.77}, {'connected_gene': 'CCR6', 'score': 0.39}, {'connected_gene': 'ENSG00000272980', 'score': 0.15}]
chr6 GH06I166969 166969364 166970777 0.6 [{'connected_gene': 'RNASET2', 'score': 46.26}, {'connected_gene': 'LOC105378120', 'score': 11.61}, {'connected_gene': 'FGFR1OP', 'score': 11.61}, {'connected_gene': 'PIR40836', 'score': 0.31}]
chr6 GH06I166989 166989601 166990001 0.69 [{'connected_gene': 'RNASET2', 'score': 45.22}, {'connected_gene': 'LOC105378120', 'score': 0.44}, {'connected_gene': 'PIR40836', 'score': 0.44}]
chr6 GH06I166829 166829695 166831738 0.68 [{'connected_gene': 'RNASET2', 'score': 11.02}, {'connected_gene': 'ENSG00000249141', 'score': 11.02}, {'connected_gene': 'RPS6KA2-AS1', 'score': 10.98}, {'connected_gene': 'RPS6KA2', 'score': 10.98}, {'connected_gene': 'CCR6', 'score': 10.06}, {'connected_gene': 'GC06P166871', 'score': 0.26}, {'connected_gene': 'GC06M166790', 'score': 0.16}, {'connected_gene': 'LOC645468', 'score': 0.13}]
chr6 GH06I166926 166926613 166937640 0.8 [{'connected_gene': 'RNASET2', 'score': 20.24}, {'connected_gene': 'ENSG00000249141', 'score': 12.25}, {'connected_gene': 'RPS6KA2-AS1', 'score': 12.2}, {'connected_gene': 'RPS6KA2', 'score': 12.2}, {'connected_gene': 'LOC105378120', 'score': 11.51}, {'connected_gene': 'FGFR1OP', 'score': 11.51}, {'connected_gene': 'GC06M166790', 'score': 0.39}, {'connected_gene': 'GC06M166944', 'score': 0.39}]
chr6 GH06I166960 166960653 166960773 0.4 [{'connected_gene': 'RNASET2', 'score': 46.8}, {'connected_gene': 'PIR40836', 'score': 0.28}]
chr6 GH06I166633 166633201 166634432 1.41 [{'connected_gene': 'RPS6KA2', 'score': 5.17}, {'connected_gene': 'RNASET2', 'score': 3.11}, {'connected_gene': 'SFT2D1', 'score': 2.48}, {'connected_gene': 'GC06M166644', 'score': 0.39}, {'connected_gene': 'FAM103A2P', 'score': 0.25}]
chr6 GH06I167750 167750149 167752122 0.84 [{'connected_gene': 'AFDN', 'score': 11.98}, {'connected_gene': 'RNASET2', 'score': 6.05}, {'connected_gene': 'LOC100422263', 'score': 0.37}, {'connected_gene': 'LOC105378132', 'score': 0.23}]
chr6 GH06I167146 167146453 167147608 0.69 [{'connected_gene': 'TCP10L2', 'score': 555.88}, {'connected_gene': 'LOC105378124', 'score': 550.77}, {'connected_gene': 'CCR6', 'score': 11.5}, {'connected_gene': 'LOC105378120', 'score': 11.33}, {'connected_gene': 'FGFR1OP', 'score': 11.33}, {'connected_gene': 'RNASET2', 'score': 10.95}, {'connected_gene': 'ENSG00000249141', 'score': 10.95}, {'connected_gene': 'GPR31', 'score': 0.39}]
chr6 GH06I167150 167150820 167154259 1.53 [{'connected_gene': 'GPR31', 'score': 24.6}, {'connected_gene': 'RNASET2', 'score': 13.67}, {'connected_gene': 'CCR6', 'score': 11.49}, {'connected_gene': 'FGFR1OP', 'score': 11.32}, {'connected_gene': 'LOC105378120', 'score': 11.32}, {'connected_gene': 'ENSG00000249141', 'score': 10.95}, {'connected_gene': 'UNC93A', 'score': 10.19}, {'connected_gene': 'RPS6KA2-AS1', 'score': 9.98}, {'connected_gene': 'RPS6KA2', 'score': 9.98}, {'connected_gene': 'AFDN', 'score': 4.46}, {'connected_gene': 'TCP10L2', 'score': 0.44}, {'connected_gene': 'LOC105378124', 'score': 0.44}]
chr6 GH06I167166 167166397 167166548 0.36 [{'connected_gene': 'GPR31', 'score': 15.13}, {'connected_gene': 'RNASET2', 'score': 1.19}, {'connected_gene': 'LOC105378123', 'score': 0.77}, {'connected_gene': 'TCP10L2', 'score': 0.34}, {'connected_gene': 'LOC105378124', 'score': 0.34}]
chr6 GH06I167111 167111273 167117165 2.06 [{'connected_gene': 'CCR6', 'score': 603.07}, {'connected_gene': 'RNASET2', 'score': 12.62}, {'connected_gene': 'LOC105378122', 'score': 0.44}, {'connected_gene': 'ENSG00000272980', 'score': 0.14}]
chr6 GH06I167117 167117957 167124216 2.1 [{'connected_gene': 'CCR6', 'score': 595.17}, {'connected_gene': 'LOC105378122', 'score': 550.77}, {'connected_gene': 'RNASET2', 'score': 22.48}, {'connected_gene': 'ENSG00000249141', 'score': 10.98}, {'connected_gene': 'ENSG00000272980', 'score': 0.13}]
chr6 GH06I167129 167129191 167131911 1.13 [{'connected_gene': 'FGFR1OP', 'score': 11.36}, {'connected_gene': 'LOC105378120', 'score': 11.36}, {'connected_gene': 'GPR31', 'score': 11.25}, {'connected_gene': 'RPS6KA2-AS1', 'score': 9.74}, {'connected_gene': 'RPS6KA2', 'score': 9.74}, {'connected_gene': 'RNASET2', 'score': 9.67}, {'connected_gene': 'LOC105378122', 'score': 0.44}, {'connected_gene': 'TCP10L2', 'score': 0.37}, {'connected_gene': 'CCR6', 'score': 0.37}, {'connected_gene': 'LOC105378124', 'score': 0.37}, {'connected_gene': 'ENSG00000272980', 'score': 0.12}]
chr6 GH06I167167 167167898 167168156 0.29 [{'connected_gene': 'LOC105378123', 'score': 550.77}, {'connected_gene': 'GPR31', 'score': 10.09}, {'connected_gene': 'RNASET2', 'score': 1.53}, {'connected_gene': 'TCP10L2', 'score': 0.34}, {'connected_gene': 'LOC105378124', 'score': 0.34}]
chr6 GH06I166942 166942233 166943382 1.11 [{'connected_gene': 'LOC105378120', 'score': 11.17}, {'connected_gene': 'FGFR1OP', 'score': 11.17}, {'connected_gene': 'RNASET2', 'score': 6.25}, {'connected_gene': 'GC06M166944', 'score': 0.77}, {'connected_gene': 'LOC105378119', 'score': 0.77}, {'connected_gene': 'ENSG00000249141', 'score': 0.39}, {'connected_gene': 'GC06M166790', 'score': 0.34}]
chr6 GH06I166997 166997202 167002171 2.5 [{'connected_gene': 'LOC105378120', 'score': 550.77}, {'connected_gene': 'MIR3939', 'score': 550.77}, {'connected_gene': 'FGFR1OP', 'score': 550.77}, {'connected_gene': 'ENSG00000272980', 'score': 550.77}, {'connected_gene': 'RNASET2', 'score': 45.23}, {'connected_gene': 'HNRNPA1P49', 'score': 13.88}, {'connected_gene': 'GPR31', 'score': 2.7}, {'connected_gene': 'PIR56971', 'score': 0.26}, {'connected_gene': 'GC06P167042', 'score': 0.26}]
chr6 GH06I166924 166924448 166926477 0.43 [{'connected_gene': 'RPS6KA2-AS1', 'score': 12.22}, {'connected_gene': 'RNASET2', 'score': 11.61}, {'connected_gene': 'ENSG00000249141', 'score': 11.61}, {'connected_gene': 'LOC105378120', 'score': 11.17}, {'connected_gene': 'FGFR1OP', 'score': 11.17}, {'connected_gene': 'GC06M166790', 'score': 0.77}, {'connected_gene': 'GC06M166944', 'score': 0.34}]
chr6 GH06I167040 167040623 167043318 0.6 [{'connected_gene': 'PIR56971', 'score': 550.77}, {'connected_gene': 'GC06P167042', 'score': 550.77}, {'connected_gene': 'RNASET2', 'score': 32.76}, {'connected_gene': 'FGFR1OP', 'score': 12.0}, {'connected_gene': 'LOC105378120', 'score': 12.0}, {'connected_gene': 'CCR6', 'score': 11.87}, {'connected_gene': 'ENSG00000249141', 'score': 10.75}, {'connected_gene': 'GC06P167051', 'score': 0.44}, {'connected_gene': 'ENSG00000272980', 'score': 0.26}]
chr6 GH06I166940 166940713 166940942 1 [{'connected_gene': 'GC06M166944', 'score': 0.44}, {'connected_gene': 'GC06M166790', 'score': 0.37}, {'connected_gene': 'RNASET2', 'score': 0.37}, {'connected_gene': 'ENSG00000249141', 'score': 0.37}]
chr6 GH06I166944 166944333 166946040 0.43 [{'connected_gene': 'GC06M166944', 'score': 550.77}, {'connected_gene': 'LOC105378119', 'score': 550.77}, {'connected_gene': 'LOC105378120', 'score': 11.18}, {'connected_gene': 'FGFR1OP', 'score': 11.18}, {'connected_gene': 'RNASET2', 'score': 10.69}, {'connected_gene': 'ENSG00000249141', 'score': 0.39}, {'connected_gene': 'GC06M166790', 'score': 0.34}]
chr6 GH06I166872 166872302 166873283 0.38 [{'connected_gene': 'GC06P166871', 'score': 550.77}, {'connected_gene': 'RPS6KA2-AS1', 'score': 12.71}, {'connected_gene': 'RPS6KA2', 'score': 12.71}, {'connected_gene': 'RNASET2', 'score': 10.82}, {'connected_gene': 'ENSG00000249141', 'score': 10.82}, {'connected_gene': 'FGFR1OP', 'score': 10.22}, {'connected_gene': 'LOC105378120', 'score': 10.22}, {'connected_gene': 'GC06M166883', 'score': 0.39}, {'connected_gene': 'GC06M166790', 'score': 0.25}]