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
ENST00000503433 [[167684656, 167684946], [167704926, 167705064], [167708004, 167708186], [167709519, 167709684]] [[167704977, 167705064], [167708004, 167708186], [167709519, 167709684]]
ENST00000230256 [[167704802, 167705064], [167708004, 167708186], [167709519, 167709749], [167711432, 167711558], [167717406, 167717621], [167719402, 167719538], [167721266, 167721398], [167728674, 167729507]] [[167704977, 167705064], [167708004, 167708186], [167709519, 167709749], [167711432, 167711558], [167717406, 167717621], [167719402, 167719538], [167721266, 167721398], [167728674, 167728940]]
ENST00000366830 [[167704828, 167705064], [167708009, 167708186], [167709519, 167709680]] None
ENST00000366829 [[167704951, 167705064], [167708004, 167708186], [167709519, 167709749], [167717406, 167717621], [167719402, 167719538], [167721266, 167721398], [167728674, 167729476]] [[167704977, 167705064], [167708004, 167708186], [167709519, 167709749], [167717406, 167717621], [167719402, 167719538], [167721266, 167721398], [167728674, 167728940]]
ENST00000504706 [[167708004, 167708186], [167709519, 167709749], [167711432, 167711851]] None
NM_001143947 [[167704802, 167705064], [167708004, 167708186], [167709519, 167709749], [167717406, 167717621], [167719402, 167719538], [167721266, 167721398], [167728674, 167729502]] [[167704977, 167705064], [167708004, 167708186], [167709519, 167709749], [167717406, 167717621], [167719402, 167719538], [167721266, 167721398], [167728674, 167728940]]
NM_018974 [[167704802, 167705064], [167708004, 167708186], [167709519, 167709749], [167711432, 167711558], [167717406, 167717621], [167719402, 167719538], [167721266, 167721398], [167728674, 167729502]] [[167704977, 167705064], [167708004, 167708186], [167709519, 167709749], [167711432, 167711558], [167717406, 167717621], [167719402, 167719538], [167721266, 167721398], [167728674, 167728940]]
Promoter
Chrom Start End Description
chr6 167684529 167684536 CAGE_peak_6_at_UNC93A_5end
chr6 167684651 167684669 CAGE_peak_1_at_UNC93A_5end
chr6 167684810 167684828 CAGE_peak_2_at_UNC93A_5end
chr6 167684834 167684837 CAGE_peak_7_at_UNC93A_5end
chr6 167704798 167704811 CAGE_peak_5_at_UNC93A_5end
chr6 167704818 167704836 CAGE_peak_4_at_UNC93A_5end
chr6 167704838 167704863 CAGE_peak_3_at_UNC93A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I167288 167288959 167289624 0.82 [{'connected_gene': 'TTLL2', 'score': 13.0}, {'connected_gene': 'UNC93A', 'score': 12.17}, {'connected_gene': 'GC06P167312', 'score': 0.34}]
chr6 GH06I167349 167349317 167351974 1.09 [{'connected_gene': 'UNC93A', 'score': 11.55}, {'connected_gene': 'LINC01558', 'score': 9.25}, {'connected_gene': 'TTLL2', 'score': 6.04}, {'connected_gene': 'TCP10', 'score': 5.85}, {'connected_gene': 'LOC100420305', 'score': 4.71}, {'connected_gene': 'LOC100421518', 'score': 0.77}, {'connected_gene': 'GC06M167354', 'score': 0.44}]
chr6 GH06I167232 167232493 167232760 0.54 [{'connected_gene': 'UNC93A', 'score': 12.81}, {'connected_gene': 'ENSG00000280707', 'score': 0.77}, {'connected_gene': 'LOC102725048', 'score': 0.44}]
chr6 GH06I167289 167289889 167293721 1.54 [{'connected_gene': 'UNC93A', 'score': 562.99}, {'connected_gene': 'LOC102724220', 'score': 14.05}, {'connected_gene': 'TTLL2', 'score': 13.02}, {'connected_gene': 'GC06P167312', 'score': 0.34}]
chr6 GH06I167233 167232957 167233883 0.31 [{'connected_gene': 'UNC93A', 'score': 12.81}, {'connected_gene': 'LOC102724220', 'score': 7.84}, {'connected_gene': 'TCP10L2', 'score': 6.09}, {'connected_gene': 'LOC102725048', 'score': 0.44}, {'connected_gene': 'ENSG00000280707', 'score': 0.44}]
chr6 GH06I167237 167237432 167240134 1.03 [{'connected_gene': 'UNC93A', 'score': 11.64}, {'connected_gene': 'LOC102724220', 'score': 9.22}, {'connected_gene': 'LOC102725048', 'score': 0.77}, {'connected_gene': 'ENSG00000280707', 'score': 0.39}]
chr6 GH06I167243 167243749 167246416 0.83 [{'connected_gene': 'UNC93A', 'score': 26.3}, {'connected_gene': 'LOC102724220', 'score': 10.15}, {'connected_gene': 'LOC102725048', 'score': 0.77}, {'connected_gene': 'GC06M167245', 'score': 0.37}]
chr6 GH06I167234 167234980 167236602 0.58 [{'connected_gene': 'UNC93A', 'score': 12.81}, {'connected_gene': 'LOC102724220', 'score': 7.92}, {'connected_gene': 'LOC102725048', 'score': 0.44}, {'connected_gene': 'ENSG00000280707', 'score': 0.44}]
chr6 GH06I167247 167247789 167248436 0.58 [{'connected_gene': 'UNC93A', 'score': 12.02}, {'connected_gene': 'LOC102724220', 'score': 6.09}, {'connected_gene': 'GC06M167245', 'score': 0.37}]
chr6 GH06I167270 167270679 167273899 0.63 [{'connected_gene': 'UNC93A', 'score': 567.04}, {'connected_gene': 'LOC102724220', 'score': 15.6}, {'connected_gene': 'GC06P167312', 'score': 0.26}]
chr6 GH06I167342 167342253 167342402 0.94 [{'connected_gene': 'UNC93A', 'score': 11.2}, {'connected_gene': 'LOC100421518', 'score': 0.44}, {'connected_gene': 'TTLL2', 'score': 0.37}]
chr6 GH06I167308 167308437 167309262 1.2 [{'connected_gene': 'UNC93A', 'score': 12.28}, {'connected_gene': 'LOC100420305', 'score': 9.62}, {'connected_gene': 'FGFR1OP', 'score': 2.22}, {'connected_gene': 'GC06P167312', 'score': 0.77}]
chr6 GH06I167221 167221453 167221602 0.2 [{'connected_gene': 'UNC93A', 'score': 5.43}, {'connected_gene': 'ENSG00000280707', 'score': 0.44}, {'connected_gene': 'LOC100420305', 'score': 0.39}]
chr6 GH06I167220 167220080 167220268 0.76 [{'connected_gene': 'UNC93A', 'score': 3.43}, {'connected_gene': 'ENSG00000280707', 'score': 0.44}, {'connected_gene': 'LOC100420305', 'score': 0.39}]
chr6 GH06I167306 167306473 167306602 0.49 [{'connected_gene': 'UNC93A', 'score': 8.77}, {'connected_gene': 'GC06P167312', 'score': 0.44}]
chr6 GH06I167275 167275154 167275259 0.39 [{'connected_gene': 'UNC93A', 'score': 5.6}, {'connected_gene': 'GC06P167312', 'score': 0.28}]
chr6 GH06I167279 167279933 167280082 0.58 [{'connected_gene': 'UNC93A', 'score': 0.44}, {'connected_gene': 'GC06P167312', 'score': 0.29}]
chr6 GH06I167675 167675133 167679526 1.4 [{'connected_gene': 'LINC02538', 'score': 550.77}, {'connected_gene': 'LINC01558', 'score': 10.55}, {'connected_gene': 'UNC93A', 'score': 4.85}, {'connected_gene': 'LOC105378131', 'score': 0.15}]
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 GH06I167424 167424095 167424402 0.81 [{'connected_gene': 'LOC105378126', 'score': 550.77}, {'connected_gene': 'UNC93A', 'score': 12.16}, {'connected_gene': 'LINC01558', 'score': 10.22}, {'connected_gene': 'FGFR1OP', 'score': 2.17}, {'connected_gene': 'AFDN', 'score': 1.62}, {'connected_gene': 'LOC105378127', 'score': 0.28}]
chr6 GH06I167280 167280138 167281366 0.63 [{'connected_gene': 'LOC102724220', 'score': 13.1}, {'connected_gene': 'UNC93A', 'score': 0.44}, {'connected_gene': 'GC06P167312', 'score': 0.29}]
chr6 GH06I167240 167240209 167243392 1.01 [{'connected_gene': 'LOC102724220', 'score': 560.79}, {'connected_gene': 'LOC102725048', 'score': 550.77}, {'connected_gene': 'UNC93A', 'score': 17.9}]
chr6 GH06I167223 167223169 167230083 1.28 [{'connected_gene': 'ENSG00000280707', 'score': 550.77}, {'connected_gene': 'UNC93A', 'score': 19.18}, {'connected_gene': 'GPR31', 'score': 11.78}, {'connected_gene': 'LOC100420305', 'score': 0.37}]
chr6 GH06I167265 167265371 167269623 1.33 [{'connected_gene': 'GC06P167267', 'score': 550.77}, {'connected_gene': 'UNC93A', 'score': 20.42}, {'connected_gene': 'LOC102724220', 'score': 9.22}]
chr6 GH06I167311 167311238 167311982 0.46 [{'connected_gene': 'GC06P167312', 'score': 550.77}, {'connected_gene': 'UNC93A', 'score': 0.26}]
chr6 GH06I167313 167313967 167314947 0.2 [{'connected_gene': 'GC06P167312', 'score': 550.77}, {'connected_gene': 'LOC100420305', 'score': 9.76}, {'connected_gene': 'UNC93A', 'score': 6.42}, {'connected_gene': 'TTLL2', 'score': 0.39}]