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
ENST00000455225 [[124966397, 124967636], [124971096, 124971199], [124972027, 124972213], [124972629, 124973205]] [[124967501, 124967636], [124971096, 124971199], [124972027, 124972137]]
ENST00000531909 [[124966440, 124967636], [124971096, 124971199], [124972027, 124972213], [124972532, 124972705], [124981434, 124981604]] [[124967501, 124967636], [124971096, 124971199], [124972027, 124972137]]
ENST00000527257 [[124966930, 124967636], [124971096, 124974937]] None
ENST00000528724 [[124966966, 124967636], [124971096, 124971199], [124971339, 124971417], [124972027, 124972213], [124972625, 124972705]] [[124967501, 124967636], [124971096, 124971199], [124971339, 124971417], [124972027, 124972137]]
ENST00000531262 [[124967037, 124967636], [124971096, 124971199], [124972629, 124972705], [124981434, 124981513]] None
ENST00000532156 [[124967138, 124967636], [124971096, 124971152], [124972027, 124972213], [124972532, 124972705], [124981434, 124981475]] [[124971124, 124971152], [124972027, 124972137]]
ENST00000279968 [[124967139, 124967636], [124971096, 124971199], [124972027, 124972247], [124972532, 124972705], [124981434, 124981475]] [[124967501, 124967636], [124971096, 124971199], [124972027, 124972137]]
ENST00000532407 [[124967139, 124967636], [124971096, 124971199], [124972027, 124972213], [124972532, 124972705], [124980539, 124980642], [124981434, 124981475]] [[124967501, 124967636], [124971096, 124971199], [124972027, 124972137]]
ENST00000531851 [[124967152, 124967636], [124971096, 124971199], [124972629, 124972705], [124980386, 124980445], [124981434, 124981485]] None
ENST00000526175 [[124967221, 124967636], [124971096, 124971199], [124972027, 124972213], [124972629, 124972705], [124980386, 124980445], [124980539, 124980642], [124981482, 124981512]] [[124967501, 124967636], [124971096, 124971199], [124972027, 124972137]]
ENST00000527766 [[124967234, 124967636], [124971096, 124971199], [124972027, 124972198], [124972629, 124972705], [124981434, 124981494]] [[124967501, 124967636], [124971096, 124971199], [124972027, 124972137]]
ENST00000529609 [[124967337, 124967636], [124971096, 124971152], [124972027, 124972247], [124972629, 124972705], [124981434, 124981517]] [[124971124, 124971152], [124972027, 124972137]]
ENST00000529583 [[124967381, 124967636], [124971096, 124971199], [124972027, 124972213], [124972629, 124972705], [124980386, 124980445], [124980539, 124980642], [124981434, 124981500]] [[124967501, 124967636], [124971096, 124971199], [124972027, 124972137]]
ENST00000527271 [[124967425, 124967636], [124971096, 124971199], [124972027, 124972213], [124972629, 124972705], [124980539, 124980642], [124981482, 124981509]] [[124967501, 124967636], [124971096, 124971199], [124972027, 124972137]]
ENST00000524373 [[124971097, 124971199], [124972027, 124972705], [124980539, 124980642], [124981480, 124981507]] [[124971097, 124971199], [124972027, 124972137]]
ENST00000533273 [[124971098, 124971199], [124972027, 124972705], [124981434, 124981528]] [[124971098, 124971199], [124972027, 124972137]]
ENST00000529530 [[124971151, 124971199], [124972027, 124972213], [124972532, 124972705], [124981482, 124981659]] [[124971151, 124971199], [124972027, 124972137]]
ENST00000532717 [[124972200, 124972705], [124981480, 124981528]] None
NM_001258245 [[124964265, 124967636], [124971096, 124971199], [124972027, 124972213], [124972629, 124972705], [124980386, 124980445], [124980539, 124980642], [124981434, 124981604]] [[124967501, 124967636], [124971096, 124971199], [124972027, 124972137]]
NM_001258243 [[124964265, 124967636], [124971096, 124971199], [124972027, 124972213], [124972532, 124972705], [124980539, 124980642], [124981434, 124981604]] [[124967501, 124967636], [124971096, 124971199], [124972027, 124972213], [124972532, 124972561]]
NR_047591 [[124964265, 124967636], [124971096, 124971199], [124972629, 124972705], [124980386, 124980445], [124981434, 124981604]] None
NM_001080546 [[124964265, 124967636], [124971096, 124971199], [124972027, 124972247], [124972532, 124972705], [124981434, 124981604]] [[124967501, 124967636], [124971096, 124971199], [124972027, 124972137]]
NM_001258242 [[124964265, 124967636], [124971096, 124971199], [124972027, 124972213], [124972532, 124972705], [124981434, 124981604]] [[124967501, 124967636], [124971096, 124971199], [124972027, 124972213], [124972532, 124972561]]
NR_047588 [[124964265, 124967636], [124971096, 124971152], [124972027, 124972213], [124972532, 124972705], [124981434, 124981604]] None
NR_047590 [[124964265, 124967636], [124971096, 124971152], [124972027, 124972247], [124972629, 124972705], [124981434, 124981604]] None
NM_001258244 [[124964265, 124967636], [124971096, 124971199], [124972027, 124972213], [124972629, 124972705], [124981434, 124981604]] [[124967501, 124967636], [124971096, 124971199], [124972027, 124972137]]
NR_047592 [[124964265, 124967636], [124971096, 124971152], [124972027, 124972213], [124972629, 124972705], [124981434, 124981604]] None
NM_001258247 [[124964265, 124967636], [124971096, 124971199], [124972027, 124972198], [124972629, 124972705], [124981434, 124981604]] [[124967501, 124967636], [124971096, 124971199], [124972027, 124972137]]
NR_047589 [[124964265, 124967636], [124971096, 124971199], [124972629, 124972705], [124981434, 124981604]] None
NM_001258246 [[124964265, 124967636], [124971096, 124971199], [124972027, 124972213], [124972532, 124972705], [124981449, 124981604]] [[124967501, 124967636], [124971096, 124971199], [124972027, 124972213], [124972532, 124972561]]
NM_001258239 [[124964265, 124967636], [124971096, 124971199], [124972027, 124972213], [124972532, 124972705], [124981480, 124981659]] [[124967501, 124967636], [124971096, 124971199], [124972027, 124972213], [124972532, 124972561]]
NM_001258238 [[124964265, 124967636], [124971096, 124971199], [124972027, 124972213], [124972629, 124972705], [124981480, 124981659]] [[124967501, 124967636], [124971096, 124971199], [124972027, 124972137]]
NR_047586 [[124964265, 124967636], [124971096, 124971152], [124972027, 124972213], [124972629, 124972705], [124981480, 124981659]] None
NM_001258240 [[124964265, 124967636], [124971096, 124971199], [124972027, 124972213], [124972629, 124972705], [124980386, 124980445], [124980539, 124980642], [124981482, 124981659]] [[124967501, 124967636], [124971096, 124971199], [124972027, 124972137]]
NM_001258241 [[124964265, 124967636], [124971096, 124971199], [124972027, 124972213], [124972629, 124972705], [124980539, 124980642], [124981482, 124981659]] [[124967501, 124967636], [124971096, 124971199], [124972027, 124972137]]
NR_047587 [[124964265, 124967636], [124971096, 124971199], [124981482, 124981659]] None
Promoter
Chrom Start End Description
chr11 124981483 124981532 CAGE_peak_1_at_TMEM218_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I125273 125273825 125273974 1.01 [{'connected_gene': 'MSANTD2', 'score': 20.61}, {'connected_gene': 'TMEM218', 'score': 14.73}, {'connected_gene': 'ENSG00000254509', 'score': 14.19}, {'connected_gene': 'ENSG00000254694', 'score': 12.23}, {'connected_gene': 'STT3A', 'score': 11.71}, {'connected_gene': 'CDON', 'score': 9.98}, {'connected_gene': 'GC11M125262', 'score': 0.77}, {'connected_gene': 'RNU6-321P', 'score': 0.77}, {'connected_gene': 'PKNOX2', 'score': 0.14}]
chr11 GH11I124642 124642816 124645294 1.35 [{'connected_gene': 'ZNF202', 'score': 33.22}, {'connected_gene': 'MSANTD2', 'score': 28.67}, {'connected_gene': 'TMEM218', 'score': 25.22}, {'connected_gene': 'STT3A', 'score': 20.31}, {'connected_gene': 'ENSG00000254509', 'score': 14.26}, {'connected_gene': 'SPA17', 'score': 12.06}, {'connected_gene': 'OR8A1', 'score': 3.11}, {'connected_gene': 'OR8B4', 'score': 2.92}, {'connected_gene': 'OR8D1', 'score': 2.37}, {'connected_gene': 'OR8G1', 'score': 1.48}, {'connected_gene': 'OR8D2', 'score': 1.32}, {'connected_gene': 'OR8B12', 'score': 1.31}, {'connected_gene': 'OR8B8', 'score': 1.19}, {'connected_gene': 'RNA5SP352', 'score': 0.44}, {'connected_gene': 'SIAE', 'score': 0.23}]
chr11 GH11I125163 125163085 125171701 2.12 [{'connected_gene': 'PKNOX2', 'score': 550.77}, {'connected_gene': 'CCDC15', 'score': 14.73}, {'connected_gene': 'MSANTD2', 'score': 13.39}, {'connected_gene': 'ENSG00000255475', 'score': 11.73}, {'connected_gene': 'LOC105369549', 'score': 10.88}, {'connected_gene': 'TMEM218', 'score': 10.5}, {'connected_gene': 'RNU6-321P', 'score': 10.35}, {'connected_gene': 'STT3A', 'score': 9.95}, {'connected_gene': 'ENSG00000254509', 'score': 9.81}, {'connected_gene': 'DDX25', 'score': 5.34}, {'connected_gene': 'KRT18P59', 'score': 4.89}, {'connected_gene': 'ENSG00000254941', 'score': 4.69}, {'connected_gene': 'PKNOX2-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000259290', 'score': 0.34}]
chr11 GH11I126060 126060635 126064105 2.24 [{'connected_gene': 'CDON', 'score': 556.09}, {'connected_gene': 'TIRAP', 'score': 27.29}, {'connected_gene': 'STT3A', 'score': 25.54}, {'connected_gene': 'TMEM218', 'score': 25.1}, {'connected_gene': 'FEZ1', 'score': 11.29}, {'connected_gene': 'SRPRA', 'score': 10.12}, {'connected_gene': 'PIR48177', 'score': 0.23}]
chr11 GH11I125591 125591163 125594304 2.08 [{'connected_gene': 'STT3A', 'score': 562.43}, {'connected_gene': 'STT3A-AS1', 'score': 550.77}, {'connected_gene': 'HP11014', 'score': 38.61}, {'connected_gene': 'TMEM218', 'score': 22.92}, {'connected_gene': 'CHEK1', 'score': 22.75}, {'connected_gene': 'MSANTD2', 'score': 20.59}, {'connected_gene': 'ENSG00000254509', 'score': 14.18}, {'connected_gene': 'TIRAP', 'score': 12.38}, {'connected_gene': 'ENSG00000254694', 'score': 12.23}, {'connected_gene': 'EI24', 'score': 11.93}, {'connected_gene': 'CDON', 'score': 10.0}, {'connected_gene': 'DDX25', 'score': 7.52}, {'connected_gene': 'FEZ1', 'score': 5.59}, {'connected_gene': 'PUS3', 'score': 4.47}]
chr11 GH11I124224 124224555 124225645 0.97 [{'connected_gene': 'OR8G2P', 'score': 550.77}, {'connected_gene': 'GC11P124227', 'score': 550.77}, {'connected_gene': 'VWA5A', 'score': 23.29}, {'connected_gene': 'MSANTD2', 'score': 20.59}, {'connected_gene': 'ZNF202', 'score': 18.79}, {'connected_gene': 'TMEM218', 'score': 14.66}, {'connected_gene': 'ENSG00000254509', 'score': 14.18}, {'connected_gene': 'LOC102724410', 'score': 0.77}]
chr11 GH11I125068 125068300 125076483 1.72 [{'connected_gene': 'SLC37A2', 'score': 22.25}, {'connected_gene': 'CCDC15', 'score': 21.88}, {'connected_gene': 'TMEM218', 'score': 11.12}, {'connected_gene': 'KRT18P59', 'score': 11.11}, {'connected_gene': 'ENSG00000255475', 'score': 10.27}, {'connected_gene': 'ROBO4', 'score': 9.9}, {'connected_gene': 'HEPACAM', 'score': 9.27}, {'connected_gene': 'LOC105369549', 'score': 6.04}, {'connected_gene': 'TBRG1', 'score': 3.07}, {'connected_gene': 'GC11M125054', 'score': 0.44}, {'connected_gene': 'PIR45309', 'score': 0.44}]
chr11 GH11I125090 125090805 125092232 1.07 [{'connected_gene': 'SLC37A2', 'score': 11.42}, {'connected_gene': 'ENSG00000255475', 'score': 10.87}, {'connected_gene': 'TMEM218', 'score': 10.58}, {'connected_gene': 'KRT18P59', 'score': 10.58}, {'connected_gene': 'LOC105369549', 'score': 9.49}, {'connected_gene': 'GC11P125088', 'score': 0.77}]
chr11 GH11I125110 125110390 125112629 2.19 [{'connected_gene': 'TMEM218', 'score': 555.69}, {'connected_gene': 'GC11M125110', 'score': 550.77}, {'connected_gene': 'KRT18P59', 'score': 550.77}, {'connected_gene': 'ENSG00000255475', 'score': 10.75}, {'connected_gene': 'PKNOX2-AS1', 'score': 10.59}, {'connected_gene': 'PKNOX2', 'score': 10.59}, {'connected_gene': 'SLC37A2', 'score': 10.22}, {'connected_gene': 'CCDC15', 'score': 9.6}, {'connected_gene': 'ENSG00000254943', 'score': 9.48}, {'connected_gene': 'GC11P125088', 'score': 0.34}]
chr11 GH11I125624 125624374 125627766 2.11 [{'connected_gene': 'CHEK1', 'score': 562.92}, {'connected_gene': 'HP11014', 'score': 35.3}, {'connected_gene': 'TMEM218', 'score': 34.82}, {'connected_gene': 'TIRAP', 'score': 26.43}, {'connected_gene': 'MSANTD2', 'score': 21.8}, {'connected_gene': 'FEZ1', 'score': 15.73}, {'connected_gene': 'STT3A', 'score': 13.6}, {'connected_gene': 'CCDC15', 'score': 12.93}, {'connected_gene': 'ACRV1', 'score': 4.89}, {'connected_gene': 'PUS3', 'score': 4.8}, {'connected_gene': 'RNU2-35P', 'score': 0.34}]
chr11 GH11I125036 125036445 125037790 0.79 [{'connected_gene': 'LOC105369549', 'score': 17.73}, {'connected_gene': 'CCDC15', 'score': 16.72}, {'connected_gene': 'SLC37A2', 'score': 11.59}, {'connected_gene': 'TMEM218', 'score': 10.24}, {'connected_gene': 'KRT18P59', 'score': 10.23}, {'connected_gene': 'ENSG00000255475', 'score': 10.02}, {'connected_gene': 'GC11M125045', 'score': 0.44}, {'connected_gene': 'GC11M125021', 'score': 0.39}]
chr11 GH11I125082 125082147 125084196 0.94 [{'connected_gene': 'LOC105369549', 'score': 9.54}, {'connected_gene': 'TMEM218', 'score': 5.78}, {'connected_gene': 'ROBO3', 'score': 5.07}, {'connected_gene': 'GC11P125080', 'score': 0.77}, {'connected_gene': 'GC11P125088', 'score': 0.44}, {'connected_gene': 'SLC37A2', 'score': 0.34}]
chr11 GH11I125267 125267847 125273729 1 [{'connected_gene': 'GC11M125262', 'score': 550.77}, {'connected_gene': 'MSANTD2', 'score': 20.61}, {'connected_gene': 'TMEM218', 'score': 14.74}, {'connected_gene': 'ENSG00000254509', 'score': 14.2}, {'connected_gene': 'ENSG00000254694', 'score': 12.23}, {'connected_gene': 'STT3A', 'score': 11.71}, {'connected_gene': 'CDON', 'score': 9.98}, {'connected_gene': 'RNU6-321P', 'score': 0.44}, {'connected_gene': 'PKNOX2', 'score': 0.14}]
chr11 GH11I125101 125101094 125103609 0.2 [{'connected_gene': 'ENSG00000255475', 'score': 11.53}, {'connected_gene': 'PKNOX2', 'score': 10.42}, {'connected_gene': 'PKNOX2-AS1', 'score': 10.42}, {'connected_gene': 'HEPACAM', 'score': 9.71}, {'connected_gene': 'LOC105369549', 'score': 9.69}, {'connected_gene': 'TMEM218', 'score': 6.52}, {'connected_gene': 'GC11P125088', 'score': 0.39}]
chr11 GH11I125886 125886706 125888810 2.01 [{'connected_gene': 'GC11P125889', 'score': 550.77}, {'connected_gene': 'HYLS1', 'score': 550.77}, {'connected_gene': 'PIR58536', 'score': 550.77}, {'connected_gene': 'HP11014', 'score': 10.98}, {'connected_gene': 'TMEM218', 'score': 10.3}, {'connected_gene': 'STT3A', 'score': 9.96}, {'connected_gene': 'DDX25', 'score': 6.36}, {'connected_gene': 'CHEK1', 'score': 6.36}, {'connected_gene': 'PUS3', 'score': 4.62}, {'connected_gene': 'PIR36090', 'score': 0.39}]

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