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
ENST00000367157 [[205271186, 205273641], [205274326, 205274459], [205275315, 205275435], [205277292, 205277358], [205277708, 205277860], [205280832, 205280953], [205290525, 205290883]] [[205272577, 205273641], [205274326, 205274459], [205275315, 205275435], [205277292, 205277358], [205277708, 205277860], [205280832, 205280953], [205290525, 205290756]]
NM_030952 [[205271190, 205273641], [205274326, 205274459], [205275315, 205275435], [205277292, 205277358], [205277708, 205277860], [205280832, 205280953], [205290525, 205290919]] [[205272577, 205273641], [205274326, 205274459], [205275315, 205275435], [205277292, 205277358], [205277708, 205277860], [205280832, 205280953], [205290525, 205290888]]
Promoter
Chrom Start End Description
chr1 205290865 205290891 CAGE_peak_1_at_NUAK2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I205252 205252240 205252366 0.31 [{'connected_gene': 'TMCC2', 'score': 11.68}, {'connected_gene': 'NUAK2', 'score': 11.31}, {'connected_gene': 'CNTN2', 'score': 10.63}, {'connected_gene': 'LOC101929459', 'score': 0.39}, {'connected_gene': 'PIR41674', 'score': 0.37}]
chr1 GH01I205253 205253165 205255117 0.2 [{'connected_gene': 'TMCC2', 'score': 38.36}, {'connected_gene': 'NUAK2', 'score': 11.31}, {'connected_gene': 'CNTN2', 'score': 10.63}, {'connected_gene': 'PIR41674', 'score': 0.37}, {'connected_gene': 'LOC101929459', 'score': 0.37}]
chr1 GH01I205293 205293104 205305457 1.71 [{'connected_gene': 'TMCC2', 'score': 23.02}, {'connected_gene': 'NUAK2', 'score': 18.85}, {'connected_gene': 'DSTYK', 'score': 17.26}, {'connected_gene': 'CDK18', 'score': 11.79}, {'connected_gene': 'LOC101929459', 'score': 10.3}, {'connected_gene': 'MFSD4A', 'score': 9.82}, {'connected_gene': 'CNTN2', 'score': 6.32}, {'connected_gene': 'TMEM81', 'score': 4.72}, {'connected_gene': 'KLHDC8A', 'score': 4.68}, {'connected_gene': 'ELK4', 'score': 4.47}, {'connected_gene': 'PIR41674', 'score': 0.31}]
chr1 GH01I205283 205283602 205289226 1.77 [{'connected_gene': 'TMCC2', 'score': 22.73}, {'connected_gene': 'NUAK2', 'score': 21.23}, {'connected_gene': 'DSTYK', 'score': 18.86}, {'connected_gene': 'LOC101929459', 'score': 7.43}, {'connected_gene': 'RBBP5', 'score': 3.17}, {'connected_gene': 'RAB29', 'score': 2.64}, {'connected_gene': 'PIR41674', 'score': 0.37}]
chr1 GH01I205273 205273292 205274737 1.27 [{'connected_gene': 'TMCC2', 'score': 10.53}, {'connected_gene': 'PIR41674', 'score': 0.77}, {'connected_gene': 'NUAK2', 'score': 0.25}]
chr1 GH01I205255 205255993 205256601 1.88 [{'connected_gene': 'TMCC2', 'score': 588.37}, {'connected_gene': 'DSTYK', 'score': 17.02}, {'connected_gene': 'NUAK2', 'score': 11.31}, {'connected_gene': 'CNTN2', 'score': 10.63}, {'connected_gene': 'PIR41674', 'score': 0.39}, {'connected_gene': 'LOC101929459', 'score': 0.37}]
chr1 GH01I205246 205246436 205251538 2.01 [{'connected_gene': 'TMCC2', 'score': 595.93}, {'connected_gene': 'DSTYK', 'score': 29.72}, {'connected_gene': 'CNTN2', 'score': 24.66}, {'connected_gene': 'CDK18', 'score': 11.4}, {'connected_gene': 'NUAK2', 'score': 11.3}, {'connected_gene': 'TMEM81', 'score': 10.28}, {'connected_gene': 'LOC101929459', 'score': 6.21}, {'connected_gene': 'NFASC', 'score': 5.87}, {'connected_gene': 'MFSD4A', 'score': 1.17}, {'connected_gene': 'PIR41674', 'score': 0.34}]
chr1 GH01I205258 205258089 205260618 1.44 [{'connected_gene': 'TMCC2', 'score': 22.07}, {'connected_gene': 'DSTYK', 'score': 18.83}, {'connected_gene': 'LOC101929459', 'score': 12.82}, {'connected_gene': 'NUAK2', 'score': 11.35}, {'connected_gene': 'RBBP5', 'score': 11.23}, {'connected_gene': 'KLHDC8A', 'score': 11.03}, {'connected_gene': 'CNTN2', 'score': 10.63}, {'connected_gene': 'TMEM81', 'score': 1.57}, {'connected_gene': 'PIR41674', 'score': 0.44}]
chr1 GH01I205485 205485533 205485782 0.98 [{'connected_gene': 'LEMD1', 'score': 11.76}, {'connected_gene': 'LOC284577', 'score': 11.76}, {'connected_gene': 'MIR135B', 'score': 11.43}, {'connected_gene': 'KLHDC8A', 'score': 11.33}, {'connected_gene': 'LEMD1-AS1', 'score': 10.7}, {'connected_gene': 'NUAK2', 'score': 10.49}, {'connected_gene': 'MFSD4A', 'score': 10.0}, {'connected_gene': 'TRK-TTT8-1', 'score': 0.39}, {'connected_gene': 'CDK18', 'score': 0.37}, {'connected_gene': 'GC01M205361', 'score': 0.2}]
chr1 GH01I204992 204992028 204993231 1.15 [{'connected_gene': 'NUAK2', 'score': 12.64}, {'connected_gene': 'CNTN2', 'score': 12.11}, {'connected_gene': 'LOC101929459', 'score': 10.63}, {'connected_gene': 'MDM4', 'score': 2.33}, {'connected_gene': 'RBBP5', 'score': 2.17}, {'connected_gene': 'GC01P205019', 'score': 0.31}, {'connected_gene': 'RPL13AP11', 'score': 0.25}, {'connected_gene': 'NFASC', 'score': 0.1}]
chr1 GH01I205344 205344669 205345148 0.83 [{'connected_gene': 'NUAK2', 'score': 11.33}, {'connected_gene': 'LEMD1-AS1', 'score': 10.81}, {'connected_gene': 'CDK18', 'score': 10.6}, {'connected_gene': 'SNRPGP10', 'score': 0.44}, {'connected_gene': 'KLHDC8A', 'score': 0.39}]
chr1 GH01I205310 205310627 205322423 2.55 [{'connected_gene': 'NUAK2', 'score': 570.02}, {'connected_gene': 'ELK4', 'score': 10.88}, {'connected_gene': 'LOC101929459', 'score': 7.29}, {'connected_gene': 'KLHDC8A', 'score': 6.06}, {'connected_gene': 'CNTN2', 'score': 4.55}, {'connected_gene': 'TMEM81', 'score': 4.38}, {'connected_gene': 'RBBP5', 'score': 2.31}, {'connected_gene': 'PIR41674', 'score': 0.25}]
chr1 GH01I205276 205276493 205276642 0.58 [{'connected_gene': 'NUAK2', 'score': 12.25}, {'connected_gene': 'LOC101929459', 'score': 10.88}, {'connected_gene': 'DSTYK', 'score': 10.53}, {'connected_gene': 'MFSD4A', 'score': 10.37}, {'connected_gene': 'CDK18', 'score': 10.33}, {'connected_gene': 'KLHDC8A', 'score': 10.18}, {'connected_gene': 'CNTN2', 'score': 9.32}, {'connected_gene': 'PIR41674', 'score': 0.44}]
chr1 GH01I205306 205306604 205308710 0.77 [{'connected_gene': 'CNTN2', 'score': 4.59}, {'connected_gene': 'NUAK2', 'score': 0.39}, {'connected_gene': 'PIR41674', 'score': 0.28}]
chr1 GH01I205067 205067827 205070484 0.54 [{'connected_gene': 'CNTN2', 'score': 11.67}, {'connected_gene': 'DSTYK', 'score': 11.32}, {'connected_gene': 'NUAK2', 'score': 4.7}, {'connected_gene': 'GC01P205063', 'score': 0.44}, {'connected_gene': 'TMEM81', 'score': 0.37}]
chr1 GH01I205343 205343255 205344600 1.32 [{'connected_gene': 'KLHDC8A', 'score': 17.38}, {'connected_gene': 'NUAK2', 'score': 11.33}, {'connected_gene': 'LEMD1-AS1', 'score': 10.81}, {'connected_gene': 'CDK18', 'score': 10.6}, {'connected_gene': 'SNRPGP10', 'score': 0.44}]
chr1 GH01I205326 205326840 205327627 0.76 [{'connected_gene': 'KLHDC8A', 'score': 4.73}, {'connected_gene': 'NUAK2', 'score': 0.44}, {'connected_gene': 'SNRPGP10', 'score': 0.34}]
chr1 GH01I205324 205324354 205326162 1.2 [{'connected_gene': 'KLHDC8A', 'score': 4.49}, {'connected_gene': 'NUAK2', 'score': 0.77}, {'connected_gene': 'SNRPGP10', 'score': 0.31}]
chr1 GH01I205362 205362192 205362393 0.2 [{'connected_gene': 'KLHDC8A', 'score': 14.0}, {'connected_gene': 'CDK18', 'score': 10.95}, {'connected_gene': 'NUAK2', 'score': 10.81}, {'connected_gene': 'MFSD4A', 'score': 10.04}, {'connected_gene': 'LEMD1-AS1', 'score': 0.39}, {'connected_gene': 'GC01M205361', 'score': 0.09}]
chr1 GH01I205359 205359608 205361336 0.51 [{'connected_gene': 'KLHDC8A', 'score': 14.38}, {'connected_gene': 'MIR135B', 'score': 11.32}, {'connected_gene': 'CDK18', 'score': 10.55}, {'connected_gene': 'NUAK2', 'score': 10.3}, {'connected_gene': 'MFSD4A', 'score': 9.9}, {'connected_gene': 'LEMD1-AS1', 'score': 0.39}]
chr1 GH01I205335 205335713 205335882 0.92 [{'connected_gene': 'KLHDC8A', 'score': 12.51}, {'connected_gene': 'LOC101929459', 'score': 10.59}, {'connected_gene': 'TMCC2', 'score': 10.14}, {'connected_gene': 'CDK18', 'score': 10.09}, {'connected_gene': 'NUAK2', 'score': 0.39}, {'connected_gene': 'SNRPGP10', 'score': 0.37}]
chr1 GH01I205336 205336635 205336958 0.2 [{'connected_gene': 'KLHDC8A', 'score': 16.81}, {'connected_gene': 'LOC101929459', 'score': 10.59}, {'connected_gene': 'TMCC2', 'score': 10.14}, {'connected_gene': 'CDK18', 'score': 10.09}, {'connected_gene': 'SNRPGP10', 'score': 0.39}, {'connected_gene': 'NUAK2', 'score': 0.37}]
chr1 GH01I205348 205348279 205349343 0.9 [{'connected_gene': 'KLHDC8A', 'score': 17.56}, {'connected_gene': 'SNRPGP10', 'score': 0.77}, {'connected_gene': 'NUAK2', 'score': 0.31}]
chr1 GH01I205479 205479643 205482641 1.23 [{'connected_gene': 'CDK18', 'score': 12.44}, {'connected_gene': 'LEMD1', 'score': 11.78}, {'connected_gene': 'LOC284577', 'score': 11.76}, {'connected_gene': 'MIR135B', 'score': 11.45}, {'connected_gene': 'KLHDC8A', 'score': 11.33}, {'connected_gene': 'LEMD1-AS1', 'score': 10.71}, {'connected_gene': 'NUAK2', 'score': 10.5}, {'connected_gene': 'MFSD4A', 'score': 10.04}, {'connected_gene': 'RAB29', 'score': 1.96}, {'connected_gene': 'CNTN2', 'score': 1.57}, {'connected_gene': 'TRK-TTT8-1', 'score': 0.44}, {'connected_gene': 'GC01M205361', 'score': 0.19}]
chr1 GH01I205361 205361550 205361994 0.2 [{'connected_gene': 'CDK18', 'score': 10.52}, {'connected_gene': 'NUAK2', 'score': 10.3}, {'connected_gene': 'MFSD4A', 'score': 9.28}, {'connected_gene': 'KLHDC8A', 'score': 0.77}, {'connected_gene': 'LEMD1-AS1', 'score': 0.39}, {'connected_gene': 'GC01M205361', 'score': 0.09}]
chr1 GH01I205339 205339535 205339926 0.59 [{'connected_gene': 'MIR135B', 'score': 11.56}, {'connected_gene': 'CDK18', 'score': 11.04}, {'connected_gene': 'MFSD4A', 'score': 10.36}, {'connected_gene': 'SNRPGP10', 'score': 0.39}, {'connected_gene': 'NUAK2', 'score': 0.37}, {'connected_gene': 'KLHDC8A', 'score': 0.37}]
chr1 GH01I205340 205340910 205341605 0.6 [{'connected_gene': 'LEMD1-AS1', 'score': 10.8}, {'connected_gene': 'LOC284577', 'score': 10.71}, {'connected_gene': 'LEMD1', 'score': 10.7}, {'connected_gene': 'CDK18', 'score': 10.6}, {'connected_gene': 'MFSD4A', 'score': 10.36}, {'connected_gene': 'SNRPGP10', 'score': 0.44}, {'connected_gene': 'KLHDC8A', 'score': 0.37}, {'connected_gene': 'NUAK2', 'score': 0.37}]
chr1 GH01I205243 205243376 205245857 0.56 [{'connected_gene': 'DSTYK', 'score': 29.76}, {'connected_gene': 'TMCC2', 'score': 20.29}, {'connected_gene': 'NUAK2', 'score': 10.77}, {'connected_gene': 'LOC101929459', 'score': 0.44}, {'connected_gene': 'PIR41674', 'score': 0.34}]
chr1 GH01I205281 205281509 205283206 0.43 [{'connected_gene': 'DSTYK', 'score': 17.8}, {'connected_gene': 'TMCC2', 'score': 5.69}, {'connected_gene': 'PIR41674', 'score': 0.39}, {'connected_gene': 'NUAK2', 'score': 0.28}]
chr1 GH01I205274 205274988 205276297 0.77 [{'connected_gene': 'DSTYK', 'score': 15.09}, {'connected_gene': 'LOC101929459', 'score': 9.52}, {'connected_gene': 'PIR41674', 'score': 0.44}, {'connected_gene': 'NUAK2', 'score': 0.25}]
chr1 GH01I205277 205277561 205281431 0.66 [{'connected_gene': 'DSTYK', 'score': 28.53}, {'connected_gene': 'LOC101929459', 'score': 20.48}, {'connected_gene': 'ELK4', 'score': 12.86}, {'connected_gene': 'NUAK2', 'score': 12.26}, {'connected_gene': 'TMCC2', 'score': 10.58}, {'connected_gene': 'MDM4', 'score': 10.52}, {'connected_gene': 'MFSD4A', 'score': 10.37}, {'connected_gene': 'CDK18', 'score': 10.33}, {'connected_gene': 'KLHDC8A', 'score': 10.18}, {'connected_gene': 'PPP1R15B', 'score': 10.07}, {'connected_gene': 'CNTN2', 'score': 9.31}, {'connected_gene': 'PIR41674', 'score': 0.39}]
chr1 GH01I205519 205518957 205520229 0.96 [{'connected_gene': 'MFSD4A', 'score': 10.97}, {'connected_gene': 'CDK18', 'score': 10.69}, {'connected_gene': 'RNU6-418P', 'score': 10.67}, {'connected_gene': 'NUAK2', 'score': 10.04}, {'connected_gene': 'GC01M205361', 'score': 0.29}]
chr1 GH01I205522 205520633 205521274 0.52 [{'connected_gene': 'MFSD4A', 'score': 18.12}, {'connected_gene': 'RNU2-19P', 'score': 11.26}, {'connected_gene': 'KLHDC8A', 'score': 10.98}, {'connected_gene': 'RNU6-418P', 'score': 10.68}, {'connected_gene': 'NUAK2', 'score': 10.04}, {'connected_gene': 'CDK18', 'score': 0.37}, {'connected_gene': 'GC01M205361', 'score': 0.29}]
chr1 GH01I205523 205518702 205518847 0.49 [{'connected_gene': 'MFSD4A', 'score': 10.96}, {'connected_gene': 'RNU6-418P', 'score': 10.67}, {'connected_gene': 'NUAK2', 'score': 10.04}, {'connected_gene': 'CDK18', 'score': 0.39}, {'connected_gene': 'GC01M205361', 'score': 0.29}]
chr1 GH01I205520 205517007 205517436 0.2 [{'connected_gene': 'MFSD4A', 'score': 10.96}, {'connected_gene': 'RNU6-418P', 'score': 10.67}, {'connected_gene': 'NUAK2', 'score': 10.04}, {'connected_gene': 'CDK18', 'score': 0.39}, {'connected_gene': 'GC01M205361', 'score': 0.29}]
chr1 GH01I205517 205517977 205518685 0.57 [{'connected_gene': 'MFSD4A', 'score': 10.96}, {'connected_gene': 'RNU6-418P', 'score': 10.67}, {'connected_gene': 'NUAK2', 'score': 10.04}, {'connected_gene': 'CDK18', 'score': 0.39}, {'connected_gene': 'GC01M205361', 'score': 0.29}]
chr1 GH01I205518 205517671 205517839 0.46 [{'connected_gene': 'MFSD4A', 'score': 10.96}, {'connected_gene': 'RNU6-418P', 'score': 10.67}, {'connected_gene': 'NUAK2', 'score': 10.04}, {'connected_gene': 'CDK18', 'score': 0.39}, {'connected_gene': 'GC01M205361', 'score': 0.29}]
chr1 GH01I205257 205257391 205257762 0.2 [{'connected_gene': 'LOC101929459', 'score': 12.82}, {'connected_gene': 'TMCC2', 'score': 11.66}, {'connected_gene': 'NUAK2', 'score': 11.31}, {'connected_gene': 'CNTN2', 'score': 10.63}, {'connected_gene': 'PIR41674', 'score': 0.39}]
chr1 GH01I205272 205272403 205273161 0.43 [{'connected_gene': 'LOC101929459', 'score': 10.24}, {'connected_gene': 'PIR41674', 'score': 0.77}, {'connected_gene': 'TMCC2', 'score': 0.26}, {'connected_gene': 'NUAK2', 'score': 0.25}]
chr1 GH01I205292 205292143 205292442 0.4 [{'connected_gene': 'LOC101929459', 'score': 17.51}, {'connected_gene': 'DSTYK', 'score': 17.3}, {'connected_gene': 'NUAK2', 'score': 13.03}, {'connected_gene': 'PIR41674', 'score': 0.34}]
chr1 GH01I205349 205349989 205351602 0.92 [{'connected_gene': 'SNRPGP10', 'score': 550.77}, {'connected_gene': 'GC01P205351', 'score': 550.77}, {'connected_gene': 'KLHDC8A', 'score': 18.13}, {'connected_gene': 'NUAK2', 'score': 0.31}]
chr1 GH01I205271 205271294 205271520 0.52 [{'connected_gene': 'PIR41674', 'score': 0.77}, {'connected_gene': 'TMCC2', 'score': 0.26}, {'connected_gene': 'NUAK2', 'score': 0.23}]
chr1 GH01I205146 205146889 205147908 0.56 [{'connected_gene': 'GC01M205145', 'score': 550.77}, {'connected_gene': 'PIR35951', 'score': 550.77}, {'connected_gene': 'TMCC2', 'score': 21.13}, {'connected_gene': 'RBBP5', 'score': 12.59}, {'connected_gene': 'LOC101929459', 'score': 10.98}, {'connected_gene': 'DSTYK', 'score': 10.4}, {'connected_gene': 'NUAK2', 'score': 9.98}, {'connected_gene': 'GC01P205170', 'score': 0.34}]
chr1 GH01I205270 205270517 205270746 0.54 [{'connected_gene': 'PIR41674', 'score': 550.77}, {'connected_gene': 'DSTYK', 'score': 18.37}, {'connected_gene': 'TMCC2', 'score': 0.26}, {'connected_gene': 'NUAK2', 'score': 0.23}]
chr1 GH01I205275 205270953 205271102 0.96 [{'connected_gene': 'PIR41674', 'score': 550.77}, {'connected_gene': 'DSTYK', 'score': 18.39}, {'connected_gene': 'TMCC2', 'score': 0.26}, {'connected_gene': 'NUAK2', 'score': 0.23}]
chr1 GH01I205144 205144043 205146120 0.83 [{'connected_gene': 'GC01M205145', 'score': 550.77}, {'connected_gene': 'PIR35951', 'score': 550.77}, {'connected_gene': 'DSTYK', 'score': 26.58}, {'connected_gene': 'TMCC2', 'score': 21.37}, {'connected_gene': 'RBBP5', 'score': 12.62}, {'connected_gene': 'LOC101929459', 'score': 10.97}, {'connected_gene': 'NUAK2', 'score': 9.99}, {'connected_gene': 'ENSG00000236108', 'score': 0.39}]

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