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
ENST00000282096 [[14665268, 14666599], [14793482, 14793533], [14807982, 14808231], [14810651, 14810788], [14825489, 14825596], [14839728, 14839939], [14840681, 14840755], [14852243, 14852392], [14853185, 14853323], [14854267, 14854379], [14856527, 14856641], [14865372, 14865572], [14880588, 14880792], [14882750, 14882912], [14889051, 14889304], [14891006, 14892350]] [[14665621, 14666599], [14793482, 14793533], [14807982, 14808231], [14810651, 14810788], [14825489, 14825596], [14839728, 14839939], [14840681, 14840755], [14852243, 14852392], [14853185, 14853323], [14854267, 14854379], [14856527, 14856641], [14865372, 14865572], [14880588, 14880792], [14882750, 14882912], [14889051, 14889304], [14891006, 14891206]]
ENST00000455098 [[14665376, 14666599], [14793482, 14793533], [14807982, 14808078], [14810651, 14810788], [14825489, 14825596], [14839728, 14839939], [14840681, 14840755], [14852243, 14852392], [14853185, 14853323], [14854267, 14854379], [14856527, 14856641], [14865372, 14865572], [14880588, 14880792], [14882750, 14882912], [14889051, 14889304], [14891006, 14891440]] [[14665621, 14666599], [14793482, 14793533], [14807982, 14808078], [14810651, 14810788], [14825489, 14825596], [14839728, 14839939], [14840681, 14840755], [14852243, 14852392], [14853185, 14853323], [14854267, 14854379], [14856527, 14856641], [14865372, 14865572], [14880588, 14880792], [14882750, 14882912], [14889051, 14889304], [14891006, 14891206]]
ENST00000534317 [[14665805, 14666599], [14793482, 14798209]] None
ENST00000525439 [[14810484, 14810788], [14825489, 14825596], [14839728, 14839939], [14840681, 14840752]] None
ENST00000532740 [[14720384, 14720899], [14722199, 14722472]] None
NM_000922 [[14665268, 14666599], [14793482, 14793533], [14807982, 14808231], [14810651, 14810788], [14825489, 14825596], [14839728, 14839939], [14840681, 14840755], [14852243, 14852392], [14853185, 14853323], [14854267, 14854379], [14856527, 14856641], [14865372, 14865572], [14880588, 14880792], [14882750, 14882912], [14889051, 14889304], [14891006, 14893605]] [[14665621, 14666599], [14793482, 14793533], [14807982, 14808231], [14810651, 14810788], [14825489, 14825596], [14839728, 14839939], [14840681, 14840755], [14852243, 14852392], [14853185, 14853323], [14854267, 14854379], [14856527, 14856641], [14865372, 14865572], [14880588, 14880792], [14882750, 14882912], [14889051, 14889304], [14891006, 14891206]]
Promoter
Chrom Start End Description
chr11 14665263 14665274 CAGE_peak_5_at_PDE3B_5end
chr11 14665275 14665316 CAGE_peak_2_at_PDE3B_5end
chr11 14665329 14665356 CAGE_peak_1_at_PDE3B_5end
chr11 14665373 14665380 CAGE_peak_7_at_PDE3B_5end
chr11 14665396 14665407 CAGE_peak_3_at_PDE3B_5end
chr11 14665414 14665432 CAGE_peak_4_at_PDE3B_5end
chr11 14665756 14665781 CAGE_peak_9_at_PDE3B_5end
chr11 14665997 14666029 CAGE_peak_8_at_PDE3B_5end
chr11 14666177 14666184 CAGE_peak_18_at_PDE3B_5end
chr11 14666201 14666212 CAGE_peak_12_at_PDE3B_5end
chr11 14666236 14666249 CAGE_peak_10_at_PDE3B_5end
chr11 14666266 14666281 CAGE_peak_6_at_PDE3B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I014783 14783846 14784727 0.2 [{'connected_gene': 'CALCP', 'score': 12.03}, {'connected_gene': 'CALCB', 'score': 12.03}, {'connected_gene': 'SPON1', 'score': 5.83}, {'connected_gene': 'MORF4L1P3', 'score': 0.14}, {'connected_gene': 'GC11P014892', 'score': 0.14}, {'connected_gene': 'PDE3B', 'score': 0.11}]
chr11 GH11I014764 14764176 14765944 1.13 [{'connected_gene': 'PSMA1', 'score': 11.78}, {'connected_gene': 'PDE3B', 'score': 11.78}, {'connected_gene': 'MORF4L1P3', 'score': 0.16}, {'connected_gene': 'GC11P014892', 'score': 0.13}]
chr11 GH11I014668 14668016 14671961 0.82 [{'connected_gene': 'PSMA1', 'score': 11.54}, {'connected_gene': 'PDE3B', 'score': 11.54}, {'connected_gene': 'COPB1', 'score': 6.51}, {'connected_gene': 'MORF4L1P3', 'score': 0.77}]
chr11 GH11I014642 14642378 14646744 2.2 [{'connected_gene': 'PSMA1', 'score': 550.77}, {'connected_gene': 'PDE3B', 'score': 550.77}, {'connected_gene': 'COPB1', 'score': 17.78}, {'connected_gene': 'MORF4L1P3', 'score': 0.31}]
chr11 GH11I014540 14540001 14540800 0.85 [{'connected_gene': 'PSMA1', 'score': 12.15}, {'connected_gene': 'PDE3B', 'score': 12.15}, {'connected_gene': 'COPB1', 'score': 11.25}, {'connected_gene': 'RRAS2', 'score': 4.22}, {'connected_gene': 'ENSG00000256206', 'score': 0.34}, {'connected_gene': 'PIR39085', 'score': 0.22}]
chr11 GH11I014536 14536802 14538799 1.1 [{'connected_gene': 'PSMA1', 'score': 13.29}, {'connected_gene': 'PDE3B', 'score': 12.15}, {'connected_gene': 'COPB1', 'score': 11.27}, {'connected_gene': 'ENSG00000256206', 'score': 0.37}, {'connected_gene': 'PIR39085', 'score': 0.21}]
chr11 GH11I014541 14541002 14542000 0.91 [{'connected_gene': 'PSMA1', 'score': 12.15}, {'connected_gene': 'PDE3B', 'score': 12.15}, {'connected_gene': 'COPB1', 'score': 11.25}, {'connected_gene': 'ENSG00000256206', 'score': 0.34}, {'connected_gene': 'PIR39085', 'score': 0.22}]
chr11 GH11I014618 14618913 14620897 1.06 [{'connected_gene': 'PSMA1', 'score': 11.75}, {'connected_gene': 'PDE3B', 'score': 11.75}, {'connected_gene': 'COPB1', 'score': 6.18}, {'connected_gene': 'PIR39085', 'score': 0.37}]
chr11 GH11I014617 14617204 14618613 0.87 [{'connected_gene': 'PSMA1', 'score': 11.72}, {'connected_gene': 'PDE3B', 'score': 11.72}, {'connected_gene': 'COPB1', 'score': 6.61}, {'connected_gene': 'PIR39085', 'score': 0.37}]
chr11 GH11I014543 14543376 14543587 0.27 [{'connected_gene': 'PSMA1', 'score': 13.1}, {'connected_gene': 'PDE3B', 'score': 11.87}, {'connected_gene': 'ENSG00000256206', 'score': 0.34}, {'connected_gene': 'PIR39085', 'score': 0.22}]
chr11 GH11I014542 14542201 14543200 0.2 [{'connected_gene': 'PSMA1', 'score': 11.87}, {'connected_gene': 'PDE3B', 'score': 11.87}, {'connected_gene': 'ENSG00000256206', 'score': 0.34}, {'connected_gene': 'PIR39085', 'score': 0.22}]
chr11 GH11I014566 14566179 14567528 0.59 [{'connected_gene': 'PSMA1', 'score': 11.02}, {'connected_gene': 'PDE3B', 'score': 11.02}, {'connected_gene': 'PIR39085', 'score': 0.29}, {'connected_gene': 'ENSG00000256206', 'score': 0.25}]
chr11 GH11I014544 14544001 14545001 0.98 [{'connected_gene': 'PSMA1', 'score': 11.88}, {'connected_gene': 'PDE3B', 'score': 11.88}, {'connected_gene': 'ENSG00000256206', 'score': 0.34}, {'connected_gene': 'PIR39085', 'score': 0.22}]
chr11 GH11I014611 14611601 14612224 0.6 [{'connected_gene': 'PSMA1', 'score': 11.92}, {'connected_gene': 'PDE3B', 'score': 11.92}, {'connected_gene': 'PIR39085', 'score': 0.39}]
chr11 GH11I014612 14612715 14612864 0.8 [{'connected_gene': 'PSMA1', 'score': 11.92}, {'connected_gene': 'PDE3B', 'score': 11.92}, {'connected_gene': 'PIR39085', 'score': 0.39}]
chr11 GH11I014613 14612955 14613104 0.49 [{'connected_gene': 'PSMA1', 'score': 11.92}, {'connected_gene': 'PDE3B', 'score': 11.92}, {'connected_gene': 'PIR39085', 'score': 0.39}]
chr11 GH11I014577 14577316 14581043 1.42 [{'connected_gene': 'PDE3B', 'score': 14.02}, {'connected_gene': 'PSMA1', 'score': 3.82}, {'connected_gene': 'CYP2R1', 'score': 1.86}, {'connected_gene': 'PIR39085', 'score': 0.34}, {'connected_gene': 'ENSG00000256206', 'score': 0.22}]
chr11 GH11I014648 14648801 14649200 0.63 [{'connected_gene': 'PDE3B', 'score': 0.44}, {'connected_gene': 'MORF4L1P3', 'score': 0.31}]
chr11 GH11I014657 14657175 14657324 1.11 [{'connected_gene': 'PDE3B', 'score': 0.39}, {'connected_gene': 'MORF4L1P3', 'score': 0.37}]
chr11 GH11I014649 14649401 14649800 0.58 [{'connected_gene': 'PDE3B', 'score': 0.44}, {'connected_gene': 'MORF4L1P3', 'score': 0.34}]
chr11 GH11I014672 14672109 14674217 0.31 [{'connected_gene': 'MORF4L1P3', 'score': 550.77}, {'connected_gene': 'PSMA1', 'score': 11.54}, {'connected_gene': 'PDE3B', 'score': 11.54}, {'connected_gene': 'CALCB', 'score': 4.94}, {'connected_gene': 'COPB1', 'score': 4.75}]
chr11 GH11I014768 14768723 14769297 0.59 [{'connected_gene': 'MORF4L1P3', 'score': 0.16}, {'connected_gene': 'PDE3B', 'score': 0.13}, {'connected_gene': 'GC11P014892', 'score': 0.13}]
chr11 GH11I014713 14713761 14714135 0.2 [{'connected_gene': 'MORF4L1P3', 'score': 0.28}, {'connected_gene': 'PDE3B', 'score': 0.19}, {'connected_gene': 'GC11P014892', 'score': 0.1}]
chr11 GH11I014647 14647801 14648400 0.51 [{'connected_gene': 'COPB1', 'score': 4.77}, {'connected_gene': 'PDE3B', 'score': 0.77}, {'connected_gene': 'MORF4L1P3', 'score': 0.31}]
chr11 GH11I014852 14852703 14853030 0.94 [{'connected_gene': 'CYP2R1', 'score': 6.35}, {'connected_gene': 'GC11P014892', 'score': 0.28}, {'connected_gene': 'MORF4L1P3', 'score': 0.1}, {'connected_gene': 'PDE3B', 'score': 0.08}]
chr11 GH11I014861 14861775 14861944 0.74 [{'connected_gene': 'GC11P014892', 'score': 0.29}, {'connected_gene': 'MORF4L1P3', 'score': 0.09}, {'connected_gene': 'PDE3B', 'score': 0.08}]