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
ENST00000559658 [[78885393, 78885533], [78886255, 78886353], [78888881, 78889074], [78893594, 78894606], [78909365, 78909475], [78910958, 78911003], [78911117, 78911257], [78913054, 78913205]] [[78888945, 78889074], [78893594, 78894606], [78909365, 78909475], [78910958, 78911003], [78911117, 78911257], [78913054, 78913136]]
ENST00000348639 [[78885393, 78885533], [78893594, 78894606], [78909365, 78909475], [78910958, 78911003], [78911117, 78911257], [78913054, 78913637]] [[78885452, 78885533], [78893594, 78894606], [78909365, 78909475], [78910958, 78911003], [78911117, 78911257], [78913054, 78913136]]
ENST00000326828 [[78887646, 78889074], [78893594, 78894606], [78909365, 78909475], [78910958, 78911003], [78911117, 78911257], [78913054, 78913521]] [[78888945, 78889074], [78893594, 78894606], [78909365, 78909475], [78910958, 78911003], [78911117, 78911257], [78913054, 78913136]]
ENST00000559002 [[78885393, 78885533], [78888881, 78889074]] None
ENST00000558903 [[78894117, 78894606], [78899782, 78899866]] None
ENST00000561128 [[78910721, 78911003], [78911117, 78911257], [78913054, 78913131]] None
ENST00000559080 [[78910971, 78911003], [78911117, 78911620]] [[78910971, 78911003], [78911117, 78911138]]
ENST00000559941 [[78911190, 78911257], [78912078, 78912603]] None
NR_046313 [[78885393, 78885533], [78886255, 78886353], [78888881, 78889074], [78893594, 78894606], [78909365, 78909475], [78910958, 78911003], [78911117, 78911257], [78913054, 78913637]] None
NM_001166694 [[78885393, 78885533], [78893594, 78894606], [78909365, 78909475], [78910958, 78911003], [78911117, 78911257], [78913054, 78913637]] [[78885452, 78885533], [78893594, 78894606], [78909365, 78909475], [78910958, 78911003], [78911117, 78911257], [78913054, 78913136]]
NM_000743 [[78887646, 78889074], [78893594, 78894606], [78909365, 78909475], [78910958, 78911003], [78911117, 78911257], [78913054, 78913637]] [[78888945, 78889074], [78893594, 78894606], [78909365, 78909475], [78910958, 78911003], [78911117, 78911257], [78913054, 78913136]]
Promoter
Chrom Start End Description
chr15 78913289 78913302 CAGE_peak_4_at_CHRNA3_5end
chr15 78913306 78913349 CAGE_peak_1_at_CHRNA3_5end
chr15 78913353 78913365 CAGE_peak_3_at_CHRNA3_5end
chr15 78913485 78913517 CAGE_peak_2_at_CHRNA3_5end
chr15 78913522 78913543 CAGE_peak_5_at_CHRNA3_5end
chr15 78913628 78913657 CAGE_peak_6_at_CHRNA3_5end
chr15 78913665 78913673 CAGE_peak_9_at_CHRNA3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I078759 78759435 78762399 1.09 [{'connected_gene': 'LOC646934', 'score': 14.61}, {'connected_gene': 'ADAMTS7P3', 'score': 14.4}, {'connected_gene': 'CHRNA5', 'score': 12.85}, {'connected_gene': 'CTSH', 'score': 5.52}, {'connected_gene': 'CHRNA3', 'score': 5.4}, {'connected_gene': 'WDR61', 'score': 4.88}, {'connected_gene': 'LOC105370914', 'score': 0.77}, {'connected_gene': 'MORF4L1', 'score': 0.25}, {'connected_gene': 'ADAMTS7', 'score': 0.23}]
chr15 GH15I078620 78620986 78621045 0.79 [{'connected_gene': 'CHRNA3', 'score': 550.77}, {'connected_gene': 'CHRNA5', 'score': 10.91}, {'connected_gene': 'GC15P078618', 'score': 0.77}, {'connected_gene': 'GC15M078021', 'score': 0.18}]
chr15 GH15I078619 78619092 78620566 0.76 [{'connected_gene': 'CHRNA3', 'score': 550.77}, {'connected_gene': 'GC15P078618', 'score': 550.77}, {'connected_gene': 'CHRNA5', 'score': 55.38}, {'connected_gene': 'GC15M078021', 'score': 0.18}]
chr15 GH15I078621 78621269 78621328 0.73 [{'connected_gene': 'CHRNA3', 'score': 550.77}, {'connected_gene': 'ENSG00000259555', 'score': 0.77}, {'connected_gene': 'GC15M078021', 'score': 0.18}]
chr15 GH15I078661 78661041 78661428 0.39 [{'connected_gene': 'GC15M078663', 'score': 550.77}, {'connected_gene': 'LOC646934', 'score': 550.77}, {'connected_gene': 'RPL18P11', 'score': 550.77}, {'connected_gene': 'PIR32831', 'score': 550.77}, {'connected_gene': 'CHRNA3', 'score': 12.38}, {'connected_gene': 'CHRNB4', 'score': 5.78}, {'connected_gene': 'MORF4L1', 'score': 3.44}, {'connected_gene': 'GC15M078021', 'score': 0.28}]
chr15 GH15I078618 78618499 78618828 0.72 [{'connected_gene': 'GC15P078618', 'score': 550.77}, {'connected_gene': 'CHRNA3', 'score': 0.77}, {'connected_gene': 'ENSG00000279421', 'score': 0.37}, {'connected_gene': 'GC15M078021', 'score': 0.18}]