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
ENST00000506793 [[44680443, 44680602], [44682710, 44682859], [44683139, 44683220], [44684350, 44684428], [44685251, 44685335], [44687975, 44688040], [44688526, 44688730], [44690023, 44690163], [44691302, 44691426], [44691859, 44691992], [44692733, 44692877], [44693682, 44693816], [44696428, 44696530], [44697631, 44697751], [44699424, 44699461], [44700560, 44702776]] None
ENST00000281543 [[44680445, 44680804], [44682457, 44682569], [44682710, 44682859], [44683139, 44683220], [44684350, 44684428], [44685251, 44685335], [44687975, 44688040], [44688526, 44688730], [44690023, 44690163], [44691302, 44691426], [44691859, 44691992], [44692733, 44692877], [44693682, 44693816], [44696428, 44696530], [44697631, 44697751], [44699424, 44699461], [44700560, 44702943]] [[44680639, 44680804], [44682457, 44682569], [44682710, 44682859], [44683139, 44683220], [44684350, 44684428], [44685251, 44685335], [44687975, 44688040], [44688526, 44688730], [44690023, 44690163], [44691302, 44691426], [44691859, 44691992], [44692733, 44692877], [44693682, 44693816], [44696428, 44696530], [44697631, 44697751], [44699424, 44699461], [44700560, 44700698]]
ENST00000513775 [[44680510, 44680804], [44682710, 44682859], [44683139, 44683220], [44684350, 44684428], [44685251, 44685335], [44687975, 44688040], [44688526, 44688730], [44690023, 44690163], [44691302, 44691426]] [[44680639, 44680804], [44682710, 44682842]]
ENST00000511493 [[44696425, 44696530], [44699424, 44699461], [44700560, 44702696]] None
NM_001345869 [[44680411, 44680804], [44682710, 44682859], [44683139, 44683220], [44684350, 44684428], [44685251, 44685335], [44687975, 44688040], [44688526, 44688730], [44690023, 44690163], [44691302, 44691426], [44691859, 44691992], [44692733, 44692877], [44693682, 44693816], [44696428, 44696530], [44697631, 44697751], [44699424, 44699461], [44700560, 44702697]] [[44690057, 44690163], [44691302, 44691426], [44691859, 44691992], [44692733, 44692877], [44693682, 44693816], [44696428, 44696530], [44697631, 44697751], [44699424, 44699461], [44700560, 44700698]]
NM_001345867 [[44680411, 44680804], [44682457, 44682569], [44682710, 44682859], [44683139, 44683220], [44684350, 44684428], [44685255, 44685335], [44687975, 44688040], [44688526, 44688730], [44690023, 44690163], [44691302, 44691426], [44691859, 44691992], [44692733, 44692877], [44693682, 44693816], [44696428, 44696530], [44697631, 44697751], [44699424, 44699461], [44700560, 44702697]] [[44690057, 44690163], [44691302, 44691426], [44691859, 44691992], [44692733, 44692877], [44693682, 44693816], [44696428, 44696530], [44697631, 44697751], [44699424, 44699461], [44700560, 44700698]]
NM_001345868 [[44680411, 44680804], [44682457, 44682569], [44682710, 44682859], [44683139, 44683220], [44684350, 44684428], [44685251, 44685335], [44687975, 44688040], [44688526, 44688730], [44690023, 44690163], [44691302, 44691426], [44691859, 44691992], [44692733, 44692877], [44693682, 44693816], [44696428, 44696530], [44699424, 44699461], [44700560, 44702697]] [[44680639, 44680804], [44682457, 44682569], [44682710, 44682859], [44683139, 44683220], [44684350, 44684428], [44685251, 44685335], [44687975, 44688040], [44688526, 44688730], [44690023, 44690163], [44691302, 44691426], [44691859, 44691992], [44692733, 44692877], [44693682, 44693816], [44696428, 44696530], [44699424, 44699461], [44700560, 44700698]]
NM_021927 [[44680432, 44680804], [44682457, 44682569], [44682710, 44682859], [44683139, 44683220], [44684350, 44684428], [44685251, 44685335], [44687975, 44688040], [44688526, 44688730], [44690023, 44690163], [44691302, 44691426], [44691859, 44691992], [44692733, 44692877], [44693682, 44693816], [44696428, 44696530], [44697631, 44697751], [44699424, 44699461], [44700560, 44702697]] [[44680639, 44680804], [44682457, 44682569], [44682710, 44682859], [44683139, 44683220], [44684350, 44684428], [44685251, 44685335], [44687975, 44688040], [44688526, 44688730], [44690023, 44690163], [44691302, 44691426], [44691859, 44691992], [44692733, 44692877], [44693682, 44693816], [44696428, 44696530], [44697631, 44697751], [44699424, 44699461], [44700560, 44700698]]
Promoter
Chrom Start End Description
chr4 44680429 44680498 CAGE_peak_1_at_GUF1_5end
chr4 44680500 44680518 CAGE_peak_3_at_GUF1_5end
chr4 44680661 44680713 CAGE_peak_2_at_GUF1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I044677 44677544 44680513 2.02 [{'connected_gene': 'GUF1', 'score': 571.9}, {'connected_gene': 'YIPF7', 'score': 550.77}, {'connected_gene': 'ENSG00000273369', 'score': 15.17}, {'connected_gene': 'GNPDA2', 'score': 12.9}, {'connected_gene': 'GC04M044690', 'score': 0.39}]
chr4 GH04I044863 44863117 44864761 0.43 [{'connected_gene': 'GUF1', 'score': 9.55}, {'connected_gene': 'GNPDA2', 'score': 5.29}, {'connected_gene': 'LOC100419045', 'score': 0.34}, {'connected_gene': 'LOC105374441', 'score': 0.21}]
chr4 GH04I044916 44916402 44916999 0.2 [{'connected_gene': 'GUF1', 'score': 5.6}, {'connected_gene': 'LOC105374441', 'score': 0.44}, {'connected_gene': 'GC04M044891', 'score': 0.25}, {'connected_gene': 'LOC100419045', 'score': 0.18}]
chr4 GH04I044522 44522236 44524601 0.2 [{'connected_gene': 'KCTD8', 'score': 15.76}, {'connected_gene': 'GNPDA2', 'score': 13.18}, {'connected_gene': 'GUF1', 'score': 7.89}, {'connected_gene': 'ENSG00000251159', 'score': 0.39}]
chr4 GH04I044651 44651615 44651674 0.5 [{'connected_gene': 'YIPF7', 'score': 561.85}, {'connected_gene': 'GUF1', 'score': 11.85}, {'connected_gene': 'GC04M044655', 'score': 0.37}, {'connected_gene': 'ENSG00000251159', 'score': 0.13}]
chr4 GH04I044680 44680801 44681000 0.31 [{'connected_gene': 'YIPF7', 'score': 0.77}, {'connected_gene': 'GUF1', 'score': 0.77}, {'connected_gene': 'GC04M044690', 'score': 0.39}]
chr4 GH04I044764 44764822 44766001 0.2 [{'connected_gene': 'GNPDA2', 'score': 40.01}, {'connected_gene': 'GUF1', 'score': 12.05}, {'connected_gene': 'KCTD8', 'score': 8.82}, {'connected_gene': 'LOC105374439', 'score': 0.28}, {'connected_gene': 'LOC105374440', 'score': 0.28}]
chr4 GH04I044725 44725040 44727257 2.19 [{'connected_gene': 'GNPDA2', 'score': 552.51}, {'connected_gene': 'LOC105374439', 'score': 550.77}, {'connected_gene': 'GUF1', 'score': 28.82}, {'connected_gene': 'KCTD8', 'score': 2.7}, {'connected_gene': 'ENSG00000272936', 'score': 0.34}]