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
ENST00000360469 [[59827481, 59827626], [59829881, 59829993], [60318618, 60318845], [60348058, 60348238], [60419723, 60419879], [60427809, 60427954], [60448783, 60448956], [60469965, 60470103], [60485477, 60485663], [60498508, 60498762], [60499391, 60499534], [60503247, 60503481], [60504666, 60504900], [60508042, 60508182], [60509113, 60509278], [60511794, 60515673]] [[59827569, 59827626], [59829881, 59829993], [60318618, 60318845], [60348058, 60348238], [60419723, 60419879], [60427809, 60427954], [60448783, 60448956], [60469965, 60470103], [60485477, 60485663], [60498508, 60498762], [60499391, 60499534], [60503247, 60503481], [60504666, 60504900], [60508042, 60508182], [60509113, 60509278], [60511794, 60512001]]
ENST00000543233 [[60174833, 60175045], [60318618, 60318845], [60348058, 60348238], [60419723, 60419879], [60427809, 60427954], [60448783, 60448956], [60469965, 60470103], [60485477, 60485663], [60498508, 60498762], [60499391, 60499534], [60503247, 60503481], [60504666, 60504900], [60508042, 60508182], [60509113, 60509278], [60511794, 60512307]] [[60318671, 60318845], [60348058, 60348238], [60419723, 60419879], [60427809, 60427954], [60448783, 60448956], [60469965, 60470103], [60485477, 60485663], [60498508, 60498762], [60499391, 60499534], [60503247, 60503481], [60504666, 60504900], [60508042, 60508182], [60509113, 60509278], [60511794, 60512001]]
NM_001794 [[59827481, 59827626], [59829881, 59829993], [60318618, 60318845], [60348058, 60348238], [60419723, 60419879], [60427809, 60427954], [60448783, 60448956], [60469965, 60470103], [60485477, 60485663], [60498508, 60498762], [60499391, 60499534], [60503247, 60503481], [60504666, 60504900], [60508042, 60508182], [60509113, 60509278], [60511794, 60515673]] [[59827569, 59827626], [59829881, 59829993], [60318618, 60318845], [60348058, 60348238], [60419723, 60419879], [60427809, 60427954], [60448783, 60448956], [60469965, 60470103], [60485477, 60485663], [60498508, 60498762], [60499391, 60499534], [60503247, 60503481], [60504666, 60504900], [60508042, 60508182], [60509113, 60509278], [60511794, 60512001]]
NM_001252338 [[60074476, 60074548], [60318618, 60318845], [60348058, 60348238], [60419723, 60419879], [60427809, 60427954], [60448783, 60448956], [60469965, 60470103], [60485477, 60485663], [60498508, 60498762], [60499391, 60499534], [60503247, 60503481], [60504666, 60504900], [60508042, 60508182], [60509113, 60509278], [60511794, 60515673]] [[60074490, 60074548], [60318618, 60318845], [60348058, 60348238], [60419723, 60419879], [60427809, 60427954], [60448783, 60448956], [60469965, 60470103], [60485477, 60485663], [60498508, 60498762], [60499391, 60499534], [60503247, 60503481], [60504666, 60504900], [60508042, 60508182], [60509113, 60509278], [60511794, 60512001]]
NM_001252339 [[60174816, 60175045], [60318618, 60318845], [60348058, 60348238], [60419723, 60419879], [60427809, 60427954], [60448783, 60448956], [60469965, 60470103], [60485477, 60485663], [60498508, 60498762], [60499391, 60499534], [60503247, 60503481], [60504666, 60504900], [60508042, 60508182], [60509113, 60509278], [60511794, 60515673]] [[60318671, 60318845], [60348058, 60348238], [60419723, 60419879], [60427809, 60427954], [60448783, 60448956], [60469965, 60470103], [60485477, 60485663], [60498508, 60498762], [60499391, 60499534], [60503247, 60503481], [60504666, 60504900], [60508042, 60508182], [60509113, 60509278], [60511794, 60512001]]
Promoter
Chrom Start End Description
chr20 59827263 59827327 CAGE_peak_1_at_CDH4_5end
chr20 60174794 60174806 CAGE_peak_4_at_CDH4_5end
chr20 60174811 60174824 CAGE_peak_3_at_CDH4_5end
chr20 60174827 60174849 CAGE_peak_2_at_CDH4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I062041 62041760 62044161 0.89 [{'connected_gene': 'TAF4', 'score': 12.08}, {'connected_gene': 'LSM14B', 'score': 11.77}, {'connected_gene': 'SS18L1', 'score': 11.17}, {'connected_gene': 'PSMA7', 'score': 11.17}, {'connected_gene': 'CDH4', 'score': 8.07}, {'connected_gene': 'RPL17P48', 'score': 0.77}, {'connected_gene': 'MIR3195', 'score': 0.34}]
chr20 GH20I061387 61387401 61388046 0.96 [{'connected_gene': 'RPS21', 'score': 13.26}, {'connected_gene': 'LAMA5', 'score': 11.81}, {'connected_gene': 'ENSG00000276786', 'score': 0.37}, {'connected_gene': 'LOC105372703', 'score': 0.25}, {'connected_gene': 'CDH4', 'score': 0.12}]
chr20 GH20I062010 62010945 62011114 0.82 [{'connected_gene': 'SS18L1', 'score': 12.11}, {'connected_gene': 'PSMA7', 'score': 12.11}, {'connected_gene': 'HRH3', 'score': 10.61}, {'connected_gene': 'CDH4', 'score': 5.75}, {'connected_gene': 'LOC105372704', 'score': 0.44}, {'connected_gene': 'GC20M062040', 'score': 0.31}, {'connected_gene': 'TAF4', 'score': 0.23}]
chr20 GH20I061433 61433690 61438871 1.51 [{'connected_gene': 'LOC105372703', 'score': 550.77}, {'connected_gene': 'RBBP8NL', 'score': 5.37}, {'connected_gene': 'CDH4', 'score': 1.55}, {'connected_gene': 'ENSG00000276786', 'score': 0.2}]
chr20 GH20I061440 61440705 61440854 0.31 [{'connected_gene': 'LOC105372703', 'score': 0.77}, {'connected_gene': 'GC20M061443', 'score': 0.39}, {'connected_gene': 'CDH4', 'score': 0.09}]
chr20 GH20I061422 61422765 61422914 0.65 [{'connected_gene': 'LOC105372703', 'score': 0.39}, {'connected_gene': 'ENSG00000276786', 'score': 0.23}, {'connected_gene': 'CDH4', 'score': 0.09}]
chr20 GH20I061414 61414500 61414763 0.38 [{'connected_gene': 'LOC105372703', 'score': 0.34}, {'connected_gene': 'ENSG00000276786', 'score': 0.26}, {'connected_gene': 'CDH4', 'score': 0.1}]
chr20 GH20I061952 61952065 61952234 0.9 [{'connected_gene': 'MIR1257', 'score': 550.77}, {'connected_gene': 'PIR52459', 'score': 550.77}, {'connected_gene': 'CDH4', 'score': 5.04}, {'connected_gene': 'PIR50269', 'score': 0.77}, {'connected_gene': 'GC20M061929', 'score': 0.28}]
chr20 GH20I061912 61912765 61912914 0.73 [{'connected_gene': 'MIR1257', 'score': 11.59}, {'connected_gene': 'PIR38008', 'score': 0.44}, {'connected_gene': 'GC20P061938', 'score': 0.31}, {'connected_gene': 'CDH4', 'score': 0.03}]
chr20 GH20I061986 61986565 61986708 0.44 [{'connected_gene': 'CDH4', 'score': 6.66}, {'connected_gene': 'CABLES2', 'score': 3.27}, {'connected_gene': 'GATA5', 'score': 2.08}, {'connected_gene': 'GC20M061929', 'score': 0.77}, {'connected_gene': 'GC20P061972', 'score': 0.39}, {'connected_gene': 'TAF4', 'score': 0.18}]
chr20 GH20I061958 61958987 61959780 0.81 [{'connected_gene': 'CDH4', 'score': 6.95}, {'connected_gene': 'CABLES2', 'score': 1.93}, {'connected_gene': 'MIR1257', 'score': 0.44}, {'connected_gene': 'GC20P061972', 'score': 0.39}, {'connected_gene': 'GC20M061929', 'score': 0.31}, {'connected_gene': 'TAF4', 'score': 0.14}]
chr20 GH20I061982 61982083 61982618 0.49 [{'connected_gene': 'CDH4', 'score': 7.72}, {'connected_gene': 'GC20P061972', 'score': 0.44}, {'connected_gene': 'GC20M061929', 'score': 0.44}, {'connected_gene': 'TAF4', 'score': 0.18}]
chr20 GH20I062025 62025115 62026779 0.7 [{'connected_gene': 'CDH4', 'score': 7.87}, {'connected_gene': 'GC20M062040', 'score': 0.39}, {'connected_gene': 'LOC105372704', 'score': 0.34}, {'connected_gene': 'TAF4', 'score': 0.28}]
chr20 GH20I062021 62021425 62021574 0.46 [{'connected_gene': 'CDH4', 'score': 7.86}, {'connected_gene': 'LOC105372704', 'score': 0.37}, {'connected_gene': 'GC20M062040', 'score': 0.37}, {'connected_gene': 'TAF4', 'score': 0.26}]
chr20 GH20I062030 62030342 62031799 1 [{'connected_gene': 'CDH4', 'score': 7.89}, {'connected_gene': 'GC20M062040', 'score': 0.44}, {'connected_gene': 'LOC105372704', 'score': 0.31}, {'connected_gene': 'TAF4', 'score': 0.29}]
chr20 GH20I061095 61095399 61095414 0.22 [{'connected_gene': 'CDH4', 'score': 2.07}, {'connected_gene': 'PIR40494', 'score': 0.44}, {'connected_gene': 'LINC01718', 'score': 0.37}]
chr20 GH20I061964 61964829 61967306 0.96 [{'connected_gene': 'CDH4', 'score': 6.88}, {'connected_gene': 'GC20P061972', 'score': 0.44}, {'connected_gene': 'MIR1257', 'score': 0.39}, {'connected_gene': 'GC20M061929', 'score': 0.34}, {'connected_gene': 'TAF4', 'score': 0.15}]
chr20 GH20I061956 61956459 61957618 0.86 [{'connected_gene': 'CDH4', 'score': 8.91}, {'connected_gene': 'MIR1257', 'score': 0.77}, {'connected_gene': 'GC20P061972', 'score': 0.37}, {'connected_gene': 'GC20M061929', 'score': 0.29}, {'connected_gene': 'TAF4', 'score': 0.14}]
chr20 GH20I061044 61044807 61045057 0.68 [{'connected_gene': 'CDH4', 'score': 1.57}, {'connected_gene': 'GC20P061035', 'score': 0.44}, {'connected_gene': 'ENSG00000229755', 'score': 0.29}]
chr20 GH20I061025 61025958 61025992 0.24 [{'connected_gene': 'CDH4', 'score': 1.53}, {'connected_gene': 'GC20P061035', 'score': 0.44}, {'connected_gene': 'ENSG00000261035', 'score': 0.08}]
chr20 GH20I061599 61599731 61599790 0.61 [{'connected_gene': 'CDH4', 'score': 550.05}, {'connected_gene': 'GC20P061572', 'score': 0.31}, {'connected_gene': 'GC20P061629', 'score': 0.29}]
chr20 GH20I061458 61458810 61458972 0.47 [{'connected_gene': 'CDH4', 'score': 1.63}, {'connected_gene': 'GC20M061443', 'score': 0.44}, {'connected_gene': 'GC20M061545', 'score': 0.15}]
chr20 GH20I061006 61006153 61006168 0.24 [{'connected_gene': 'CDH4', 'score': 1.62}, {'connected_gene': 'GC20P061035', 'score': 0.31}, {'connected_gene': 'ENSG00000261035', 'score': 0.08}]
chr20 GH20I061681 61681708 61682018 0.46 [{'connected_gene': 'CDH4', 'score': 1.38}, {'connected_gene': 'GC20P061695', 'score': 0.39}, {'connected_gene': 'GC20P061629', 'score': 0.23}]
chr20 GH20I061520 61520625 61521758 0.97 [{'connected_gene': 'CDH4', 'score': 3.56}, {'connected_gene': 'GC20M061545', 'score': 0.28}, {'connected_gene': 'GC20M061443', 'score': 0.19}]
chr20 GH20I061252 61252000 61255724 2.05 [{'connected_gene': 'CDH4', 'score': 568.61}, {'connected_gene': 'GC20M061283', 'score': 0.29}]
chr20 GH20I061718 61718044 61720390 1.01 [{'connected_gene': 'LOC100128310', 'score': 550.77}, {'connected_gene': 'GC20P061698', 'score': 0.34}, {'connected_gene': 'CDH4', 'score': 0.04}]
chr20 GH20I061724 61724545 61724694 0.38 [{'connected_gene': 'LOC100128310', 'score': 0.77}, {'connected_gene': 'GC20P061726', 'score': 0.77}, {'connected_gene': 'CDH4', 'score': 0.04}]
chr20 GH20I061671 61671968 61672097 0.57 [{'connected_gene': 'ENSG00000226332', 'score': 12.6}, {'connected_gene': 'TAF4', 'score': 11.97}, {'connected_gene': 'CDH4', 'score': 2.25}, {'connected_gene': 'SS18L1', 'score': 1.43}, {'connected_gene': 'GC20P061695', 'score': 0.34}, {'connected_gene': 'GC20P061629', 'score': 0.26}]
chr20 GH20I061385 61385354 61386054 0.2 [{'connected_gene': 'ENSG00000276786', 'score': 0.37}, {'connected_gene': 'LOC105372703', 'score': 0.23}, {'connected_gene': 'CDH4', 'score': 0.12}]
chr20 GH20I061447 61447941 61448634 0.43 [{'connected_gene': 'GC20M061443', 'score': 0.77}, {'connected_gene': 'LOC105372703', 'score': 0.39}, {'connected_gene': 'CDH4', 'score': 0.08}]
chr20 GH20I061659 61659785 61659934 0.31 [{'connected_gene': 'GC20P061629', 'score': 0.29}, {'connected_gene': 'GC20P061695', 'score': 0.28}, {'connected_gene': 'CDH4', 'score': 0.05}]
chr20 GH20I061643 61643521 61645007 0.31 [{'connected_gene': 'GC20P061629', 'score': 0.39}, {'connected_gene': 'GC20P061695', 'score': 0.23}, {'connected_gene': 'CDH4', 'score': 0.05}]
chr20 GH20I061494 61494411 61494801 0.2 [{'connected_gene': 'GC20M061443', 'score': 0.26}, {'connected_gene': 'GC20M061545', 'score': 0.21}, {'connected_gene': 'CDH4', 'score': 0.07}]
chr20 GH20I061555 61555334 61557190 0.43 [{'connected_gene': 'GC20M061545', 'score': 550.77}, {'connected_gene': 'GC20M061443', 'score': 0.14}, {'connected_gene': 'CDH4', 'score': 0.06}]
chr20 GH20I061528 61528655 61528867 0.23 [{'connected_gene': 'GC20M061545', 'score': 0.31}, {'connected_gene': 'GC20M061443', 'score': 0.18}, {'connected_gene': 'CDH4', 'score': 0.06}]
chr20 GH20I061530 61530805 61530966 0.49 [{'connected_gene': 'GC20M061545', 'score': 0.31}, {'connected_gene': 'GC20M061443', 'score': 0.18}, {'connected_gene': 'CDH4', 'score': 0.06}]
chr20 GH20I061887 61887285 61887434 0.77 [{'connected_gene': 'PIR38008', 'score': 0.37}, {'connected_gene': 'ENSG00000225106', 'score': 0.12}, {'connected_gene': 'CDH4', 'score': 0.03}]
chr20 GH20I061567 61567405 61567574 0.43 [{'connected_gene': 'GC20P061572', 'score': 0.77}, {'connected_gene': 'GC20M061545', 'score': 0.39}, {'connected_gene': 'CDH4', 'score': 0.06}]
chr20 GH20I061753 61753060 61753875 0.76 [{'connected_gene': 'ENSG00000225106', 'score': 550.77}, {'connected_gene': 'GC20P061745', 'score': 0.44}, {'connected_gene': 'CDH4', 'score': 0.03}]
chr20 GH20I061352 61352652 61353000 0.66 [{'connected_gene': 'GC20M061354', 'score': 0.37}, {'connected_gene': 'GC20M061283', 'score': 0.2}, {'connected_gene': 'CDH4', 'score': 0.15}]
chr20 GH20I061496 61496427 61497814 0.66 [{'connected_gene': 'GC20M061443', 'score': 0.25}, {'connected_gene': 'GC20M061545', 'score': 0.21}, {'connected_gene': 'CDH4', 'score': 0.07}]
chr20 GH20I061896 61896365 61896494 0.68 [{'connected_gene': 'PIR38008', 'score': 0.44}, {'connected_gene': 'ENSG00000225106', 'score': 0.11}, {'connected_gene': 'CDH4', 'score': 0.03}]
chr20 GH20I061588 61588059 61589821 0.8 [{'connected_gene': 'GC20P061572', 'score': 0.37}, {'connected_gene': 'GC20P061629', 'score': 0.26}, {'connected_gene': 'CDH4', 'score': 0.05}]
chr20 GH20I061934 61934423 61934552 0.2 [{'connected_gene': 'GC20P061938', 'score': 0.77}, {'connected_gene': 'PIR38008', 'score': 0.31}, {'connected_gene': 'GC20M061929', 'score': 0.23}, {'connected_gene': 'CDH4', 'score': 0.03}]
chr20 GH20I061789 61789485 61789634 0.54 [{'connected_gene': 'ENSG00000225106', 'score': 0.29}, {'connected_gene': 'PIR38008', 'score': 0.13}, {'connected_gene': 'CDH4', 'score': 0.03}]
chr20 GH20I061925 61925331 61926532 0.94 [{'connected_gene': 'GC20P061938', 'score': 0.39}, {'connected_gene': 'PIR38008', 'score': 0.34}, {'connected_gene': 'CDH4', 'score': 0.03}]
chr20 GH20I061874 61874805 61874934 0.69 [{'connected_gene': 'PIR38008', 'score': 0.29}, {'connected_gene': 'ENSG00000225106', 'score': 0.13}, {'connected_gene': 'CDH4', 'score': 0.03}]
chr20 GH20I061499 61499724 61501979 0.8 [{'connected_gene': 'GC20M061443', 'score': 0.25}, {'connected_gene': 'GC20M061545', 'score': 0.22}, {'connected_gene': 'CDH4', 'score': 0.07}]
chr20 GH20I061298 61298125 61298274 0.2 [{'connected_gene': 'GC20M061283', 'score': 0.39}, {'connected_gene': 'CDH4', 'score': 0.25}, {'connected_gene': 'GC20M061354', 'score': 0.19}]
chr20 GH20I061498 61498229 61498741 0.2 [{'connected_gene': 'GC20M061443', 'score': 0.25}, {'connected_gene': 'GC20M061545', 'score': 0.22}, {'connected_gene': 'CDH4', 'score': 0.07}]
chr20 GH20I061704 61704253 61707314 0.2 [{'connected_gene': 'GC20P061698', 'score': 0.44}, {'connected_gene': 'LOC100128310', 'score': 0.39}, {'connected_gene': 'CDH4', 'score': 0.05}]

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