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
ENST00000346991 [[40886217, 40886590], [40895112, 40895164], [40897307, 40897347], [40898590, 40898650], [40901044, 40901106], [40902442, 40902495], [40902996, 40903074], [40903675, 40903709], [40907538, 40907576], [40911156, 40911209], [40912837, 40917838], [40920267, 40920406], [40920808, 40920876], [40921470, 40921569], [40933109, 40933225], [40937194, 40937285], [40937853, 40937970], [40939184, 40939272], [40942498, 40942576], [40942741, 40942781], [40943668, 40943770], [40944202, 40944303], [40947106, 40947175], [40949239, 40949349], [40949552, 40949671], [40951536, 40951659], [40954271, 40956540]] [[40895129, 40895164], [40897307, 40897347], [40898590, 40898650], [40901044, 40901106], [40902442, 40902495], [40902996, 40903074], [40903675, 40903709], [40907538, 40907576], [40911156, 40911209], [40912837, 40917838], [40920267, 40920406], [40920808, 40920876], [40921470, 40921569], [40933109, 40933225], [40937194, 40937285], [40937853, 40937970], [40939184, 40939272], [40942498, 40942576], [40942741, 40942781], [40943668, 40943770], [40944202, 40944303], [40947106, 40947175], [40949239, 40949349], [40949552, 40949671], [40951536, 40951659], [40954271, 40954386]]
ENST00000528975 [[40886231, 40886590], [40895112, 40895164], [40898590, 40898650], [40901044, 40901106], [40902442, 40902487]] [[40902464, 40902487]]
ENST00000527044 [[40886232, 40886590], [40895112, 40895164], [40897307, 40897347], [40898590, 40898650], [40901044, 40901106], [40902442, 40902495], [40903681, 40903709], [40907538, 40907576], [40912837, 40915357]] [[40895129, 40895164], [40897307, 40897347], [40898590, 40898650], [40901044, 40901106], [40902442, 40902495], [40903681, 40903709], [40907538, 40907576], [40912837, 40912863]]
ENST00000532056 [[40886446, 40886590], [40901044, 40901106], [40902442, 40902495]] [[40902464, 40902495]]
ENST00000399668 [[40886446, 40886590], [40895112, 40895164], [40897307, 40897347], [40898590, 40898650], [40901044, 40901106], [40902442, 40902495], [40903675, 40903709], [40907538, 40907576], [40911156, 40911209], [40912837, 40917838], [40920267, 40920406], [40920808, 40920876], [40921470, 40921569], [40933109, 40933225], [40937194, 40937285], [40937853, 40937970], [40939184, 40939272], [40942498, 40942576], [40942741, 40942781], [40943668, 40943770], [40944202, 40944303], [40947106, 40947175], [40949239, 40949349], [40949552, 40949671], [40951536, 40951659], [40954271, 40954881]] [[40895129, 40895164], [40897307, 40897347], [40898590, 40898650], [40901044, 40901106], [40902442, 40902495], [40903675, 40903709], [40907538, 40907576], [40911156, 40911209], [40912837, 40917838], [40920267, 40920406], [40920808, 40920876], [40921470, 40921569], [40933109, 40933225], [40937194, 40937285], [40937853, 40937970], [40939184, 40939272], [40942498, 40942576], [40942741, 40942781], [40943668, 40943770], [40944202, 40944303], [40947106, 40947175], [40949239, 40949349], [40949552, 40949671], [40951536, 40951659], [40954271, 40954386]]
ENST00000533001 [[40886462, 40886590], [40895112, 40895164], [40897307, 40897347], [40898590, 40898650], [40901044, 40901106], [40902442, 40902495], [40903675, 40903709], [40907538, 40907576], [40911156, 40911209], [40912837, 40918240]] None
ENST00000534204 [[40886469, 40886590], [40895112, 40895164], [40897307, 40897347], [40898590, 40898630], [40921521, 40921569], [40933109, 40933225], [40937194, 40937285], [40937853, 40937910]] [[40895129, 40895164], [40897307, 40897347], [40898590, 40898630], [40921521, 40921569], [40933109, 40933189]]
ENST00000526913 [[40915329, 40917838], [40920267, 40920406], [40920808, 40920876], [40921470, 40921569], [40933109, 40933225], [40937194, 40937285], [40937853, 40937970], [40939184, 40939272], [40942498, 40942576], [40942741, 40942781], [40943668, 40943770], [40944202, 40944303], [40947106, 40947175], [40949239, 40949349], [40949552, 40949671], [40951536, 40951659], [40954271, 40954881], [40955532, 40956537]] [[40915329, 40917838], [40920267, 40920406], [40920808, 40920876], [40921470, 40921569], [40933109, 40933225], [40937194, 40937285], [40937853, 40937970], [40939184, 40939272], [40942498, 40942576], [40942741, 40942781], [40943668, 40943770], [40944202, 40944303], [40947106, 40947175], [40949239, 40949349], [40949552, 40949671], [40951536, 40951659], [40954271, 40954386]]
ENST00000532406 [[40920271, 40920406], [40920808, 40920876], [40933109, 40933225], [40937194, 40937285], [40937853, 40937970], [40939184, 40939236]] [[40920271, 40920406], [40920808, 40920876], [40933109, 40933225], [40937194, 40937285], [40937853, 40937970], [40939184, 40939236]]
ENST00000528967 [[40939083, 40939272], [40942498, 40942563]] None
ENST00000532347 [[40942324, 40942576], [40942741, 40942781], [40943668, 40943770], [40944202, 40944303], [40947106, 40947175]] None
ENST00000531626 [[40954770, 40954876], [40955539, 40956102]] None
NM_144508 [[40886446, 40886590], [40895112, 40895164], [40897307, 40897347], [40898590, 40898650], [40901044, 40901106], [40902442, 40902495], [40903675, 40903709], [40907538, 40907576], [40911156, 40911209], [40912837, 40917838], [40920267, 40920406], [40920808, 40920876], [40921470, 40921569], [40933109, 40933225], [40937194, 40937285], [40937853, 40937970], [40939184, 40939272], [40942498, 40942576], [40942741, 40942781], [40943668, 40943770], [40944202, 40944303], [40947106, 40947175], [40949239, 40949349], [40949552, 40949671], [40951536, 40951659], [40954271, 40954881]] [[40895129, 40895164], [40897307, 40897347], [40898590, 40898650], [40901044, 40901106], [40902442, 40902495], [40903675, 40903709], [40907538, 40907576], [40911156, 40911209], [40912837, 40917838], [40920267, 40920406], [40920808, 40920876], [40921470, 40921569], [40933109, 40933225], [40937194, 40937285], [40937853, 40937970], [40939184, 40939272], [40942498, 40942576], [40942741, 40942781], [40943668, 40943770], [40944202, 40944303], [40947106, 40947175], [40949239, 40949349], [40949552, 40949671], [40951536, 40951659], [40954271, 40954386]]
NM_170589 [[40886446, 40886590], [40895112, 40895164], [40897307, 40897347], [40898590, 40898650], [40901044, 40901106], [40902442, 40902495], [40902996, 40903074], [40903675, 40903709], [40907538, 40907576], [40911156, 40911209], [40912837, 40917838], [40920267, 40920406], [40920808, 40920876], [40921470, 40921569], [40933109, 40933225], [40937194, 40937285], [40937853, 40937970], [40939184, 40939272], [40942498, 40942576], [40942741, 40942781], [40943668, 40943770], [40944202, 40944303], [40947106, 40947175], [40949239, 40949349], [40949552, 40949671], [40951536, 40951659], [40954271, 40954881]] [[40895129, 40895164], [40897307, 40897347], [40898590, 40898650], [40901044, 40901106], [40902442, 40902495], [40902996, 40903074], [40903675, 40903709], [40907538, 40907576], [40911156, 40911209], [40912837, 40917838], [40920267, 40920406], [40920808, 40920876], [40921470, 40921569], [40933109, 40933225], [40937194, 40937285], [40937853, 40937970], [40939184, 40939272], [40942498, 40942576], [40942741, 40942781], [40943668, 40943770], [40944202, 40944303], [40947106, 40947175], [40949239, 40949349], [40949552, 40949671], [40951536, 40951659], [40954271, 40954386]]
Promoter
Chrom Start End Description
chr15 40886199 40886236 CAGE_peak_2_at_CASC5_5end
chr15 40886439 40886493 CAGE_peak_1_at_CASC5_5end
chr15 40886501 40886515 CAGE_peak_3_at_CASC5_5end
chr15 40942337 40942379 CAGE_peak_4_at_CASC5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I040633 40633069 40633989 0.49 [{'connected_gene': 'CCDC32', 'score': 49.91}, {'connected_gene': 'RAD51', 'score': 11.04}, {'connected_gene': 'RAD51-AS1', 'score': 11.04}, {'connected_gene': 'C15orf62', 'score': 10.73}, {'connected_gene': 'DNAJC17', 'score': 10.22}, {'connected_gene': 'ZFYVE19', 'score': 10.22}, {'connected_gene': 'ENSG00000259254', 'score': 0.44}, {'connected_gene': 'RN7SL376P', 'score': 0.37}, {'connected_gene': 'KNL1', 'score': 0.28}]
chr15 GH15I040649 40649600 40650817 0.65 [{'connected_gene': 'CCDC32', 'score': 45.53}, {'connected_gene': 'RAD51', 'score': 12.81}, {'connected_gene': 'RAD51-AS1', 'score': 12.81}, {'connected_gene': 'ENSG00000259254', 'score': 0.44}, {'connected_gene': 'GC15P040683', 'score': 0.29}, {'connected_gene': 'KNL1', 'score': 0.22}]
chr15 GH15I040592 40592910 40595801 2.12 [{'connected_gene': 'KNL1', 'score': 550.77}, {'connected_gene': 'TRS-GCT4-2', 'score': 550.77}, {'connected_gene': 'CCDC32', 'score': 48.77}, {'connected_gene': 'INO80', 'score': 38.28}, {'connected_gene': 'DNAJC17', 'score': 29.03}, {'connected_gene': 'ENSG00000259211', 'score': 26.04}, {'connected_gene': 'BMF', 'score': 24.53}, {'connected_gene': 'RTF1', 'score': 18.66}, {'connected_gene': 'RMDN3', 'score': 15.06}, {'connected_gene': 'RAD51-AS1', 'score': 12.67}, {'connected_gene': 'CHST14', 'score': 11.52}, {'connected_gene': 'RPUSD2', 'score': 10.95}, {'connected_gene': 'RPAP1', 'score': 10.82}, {'connected_gene': 'EIF2AK4', 'score': 10.73}, {'connected_gene': 'RN7SL376P', 'score': 0.34}]

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