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
ENST00000265132 [[116822406, 116822550], [116823204, 116823378], [116823703, 116823871], [116824956, 116825038], [116831978, 116832025], [116835204, 116835306], [116836315, 116836432], [116837239, 116837316], [116838877, 116839020], [116840372, 116840752]] [[116822518, 116822550], [116823204, 116823378], [116823703, 116823871], [116824956, 116825038], [116831978, 116832025], [116835204, 116835306], [116836315, 116836432], [116837239, 116837316], [116838877, 116839020], [116840372, 116840489]]
ENST00000540645 [[116823189, 116823871], [116824956, 116825038], [116831978, 116832025], [116835204, 116835306], [116836315, 116836432], [116837239, 116837316], [116838877, 116839020], [116839782, 116839888]] None
ENST00000466610 [[116823271, 116823357], [116823736, 116823871], [116824956, 116825038], [116831978, 116832025], [116835204, 116835306], [116836315, 116836432], [116837239, 116837249]] [[116823271, 116823357], [116823736, 116823871], [116824956, 116825038], [116831978, 116832025], [116835204, 116835306], [116836315, 116836432], [116837239, 116837249]]
ENST00000603230 [[116823779, 116823871], [116824956, 116825038], [116831978, 116832186], [116835204, 116835306], [116836315, 116836432], [116837239, 116837316], [116838877, 116839020], [116840372, 116840608]] [[116832025, 116832186], [116835204, 116835306], [116836315, 116836432], [116837239, 116837316], [116838877, 116839020], [116840372, 116840489]]
NM_001633 [[116822406, 116822550], [116823204, 116823378], [116823703, 116823871], [116824956, 116825038], [116831978, 116832025], [116835204, 116835306], [116836315, 116836432], [116837239, 116837316], [116838877, 116839020], [116840372, 116840752]] [[116822518, 116822550], [116823204, 116823378], [116823703, 116823871], [116824956, 116825038], [116831978, 116832025], [116835204, 116835306], [116836315, 116836432], [116837239, 116837316], [116838877, 116839020], [116840372, 116840489]]
Promoter
Chrom Start End Description
chr9 116823375 116823380 CAGE_peak_7_at_AMBP_5end
chr9 116839818 116839841 CAGE_peak_3_at_AMBP_5end
chr9 116840569 116840588 CAGE_peak_1_at_AMBP_5end
chr9 116840728 116840744 CAGE_peak_2_at_AMBP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I113964 113964156 113967838 1.68 [{'connected_gene': 'COL27A1', 'score': 9.75}, {'connected_gene': 'AMBP', 'score': 1.83}, {'connected_gene': 'GC09P114664', 'score': 0.17}, {'connected_gene': 'ZNF618', 'score': 0.17}]
chr9 GH09I114080 114080108 114083428 0.97 [{'connected_gene': 'COL27A1', 'score': 10.58}, {'connected_gene': 'KIF12', 'score': 6.24}, {'connected_gene': 'AMBP', 'score': 0.77}]
chr9 GH09I113992 113992298 113993400 1.04 [{'connected_gene': 'ORM2', 'score': 16.3}, {'connected_gene': 'AMBP', 'score': 15.09}, {'connected_gene': 'ORM1', 'score': 6.42}, {'connected_gene': 'COL27A1', 'score': 4.61}, {'connected_gene': 'GC09P114664', 'score': 0.21}, {'connected_gene': 'ZNF618', 'score': 0.13}]
chr9 GH09I114314 114314999 114315454 0.94 [{'connected_gene': 'ORM1', 'score': 21.01}, {'connected_gene': 'AMBP', 'score': 19.81}, {'connected_gene': 'ORM2', 'score': 8.39}, {'connected_gene': 'LOC105376224', 'score': 0.77}, {'connected_gene': 'MIR455', 'score': 0.14}]
chr9 GH09I114077 114077581 114079050 1.45 [{'connected_gene': 'AMBP', 'score': 558.77}, {'connected_gene': 'COL27A1', 'score': 10.56}, {'connected_gene': 'KIF12', 'score': 8.47}, {'connected_gene': 'GC09P114664', 'score': 0.34}]
chr9 GH09I114072 114072401 114072550 0.46 [{'connected_gene': 'AMBP', 'score': 0.44}, {'connected_gene': 'GC09P114664', 'score': 0.37}]
chr9 GH09I114097 114097237 114100677 1.84 [{'connected_gene': 'KIF12', 'score': 567.39}, {'connected_gene': 'COL27A1', 'score': 11.31}, {'connected_gene': 'AMBP', 'score': 0.34}]
chr9 GH09I114058 114058812 114060449 0.68 [{'connected_gene': 'GC09P114664', 'score': 0.77}, {'connected_gene': 'AMBP', 'score': 0.37}]

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