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
ENST00000373045 [[38259473, 38260404], [38261408, 38261518], [38262415, 38262492], [38265238, 38266805]] [[38259854, 38260404], [38261408, 38261518], [38262415, 38262492], [38265238, 38265875]]
ENST00000397631 [[38259554, 38260404], [38261408, 38261518], [38262415, 38262492], [38265515, 38266805]] [[38259854, 38260404], [38261408, 38261518], [38262415, 38262492], [38265515, 38265531]]
ENST00000532512 [[38260154, 38260404], [38261408, 38261518], [38265238, 38265893]] [[38260154, 38260404], [38261408, 38261518], [38265238, 38265271]]
ENST00000525897 [[38261079, 38261304], [38261408, 38261518], [38262415, 38262492], [38265238, 38266120]] [[38261440, 38261518], [38262415, 38262492], [38265238, 38265875]]
ENST00000329006 [[38261159, 38261518], [38265238, 38266809]] [[38261447, 38261518], [38265238, 38265875]]
NM_001031740 [[38259773, 38260404], [38261408, 38261518], [38262415, 38262492], [38265515, 38267278]] [[38259854, 38260404], [38261408, 38261518], [38262415, 38262492], [38265515, 38265531]]
NM_001113482 [[38259773, 38260404], [38261408, 38261518], [38262415, 38262492], [38265238, 38267278]] [[38259854, 38260404], [38261408, 38261518], [38262415, 38262492], [38265238, 38265875]]
NM_152496 [[38261159, 38261518], [38265238, 38267278]] [[38261447, 38261518], [38265238, 38265875]]
Promoter
Chrom Start End Description
chr1 38259459 38259532 CAGE_peak_2_at_MANEAL_5end
chr1 38259540 38259569 CAGE_peak_3_at_MANEAL_5end
chr1 38259727 38259807 CAGE_peak_1_at_MANEAL_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I038108 38108197 38108553 0.34 [{'connected_gene': 'POU3F1', 'score': 6.03}, {'connected_gene': 'EPHA10', 'score': 2.66}, {'connected_gene': 'MANEAL', 'score': 1.49}, {'connected_gene': 'MIR3659', 'score': 0.37}, {'connected_gene': 'GC01P038138', 'score': 0.31}, {'connected_gene': 'LOC105378653', 'score': 0.21}, {'connected_gene': 'ENSG00000224592', 'score': 0.21}]
chr1 GH01I037793 37793600 37794801 1.93 [{'connected_gene': 'MANEAL', 'score': 550.77}, {'connected_gene': 'C1orf109', 'score': 15.53}, {'connected_gene': 'SNIP1', 'score': 12.67}, {'connected_gene': 'SF3A3', 'score': 9.73}, {'connected_gene': 'ENSG00000233728', 'score': 0.44}]
chr1 GH01I037795 37795449 37795456 0.8 [{'connected_gene': 'MANEAL', 'score': 550.77}, {'connected_gene': 'ENSG00000233728', 'score': 0.44}]
chr1 GH01I037796 37795348 37795407 1.07 [{'connected_gene': 'MANEAL', 'score': 550.77}, {'connected_gene': 'ENSG00000233728', 'score': 0.44}]

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