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
ENST00000342619 [[183943286, 183943887], [183948235, 183948282], [183960158, 183960627]] [[183943661, 183943887], [183948235, 183948282], [183960158, 183960386]]
ENST00000354221 [[183943486, 183943887], [183948235, 183948282], [183951767, 183951920], [183960158, 183964733]] [[183943661, 183943887], [183948235, 183948282], [183951767, 183951920], [183960158, 183960386]]
ENST00000469344 [[183943716, 183943887], [183948235, 183948282], [183951885, 183951920], [183960158, 183960631]] None
NR_135688 [[183943286, 183943887], [183951767, 183951920], [183960158, 183964736]] None
NM_001142314 [[183943286, 183943887], [183948235, 183948282], [183960158, 183964736]] [[183943661, 183943887], [183948235, 183948282], [183960158, 183960386]]
NM_001321519 [[183943286, 183943887], [183948235, 183948282], [183951885, 183951920], [183960158, 183964736]] [[183943661, 183943887], [183948235, 183948282], [183951885, 183951920], [183960158, 183960216]]
NM_080876 [[183943286, 183943887], [183948235, 183948282], [183951767, 183951920], [183960158, 183964736]] [[183943661, 183943887], [183948235, 183948282], [183951767, 183951920], [183960158, 183960386]]
Promoter
Chrom Start End Description
chr2 183943464 183943498 CAGE_peak_1_at_DUSP19_5end
chr2 183943499 183943530 CAGE_peak_2_at_DUSP19_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I182866 182866020 182868679 1.74 [{'connected_gene': 'FRZB', 'score': 571.9}, {'connected_gene': 'DUSP19', 'score': 5.16}, {'connected_gene': 'GC02P182874', 'score': 0.44}]
chr2 GH02I183078 183078001 183080049 2.03 [{'connected_gene': 'DUSP19', 'score': 558.04}, {'connected_gene': 'NCKAP1', 'score': 11.35}, {'connected_gene': 'NUP35', 'score': 11.3}, {'connected_gene': 'ENSG00000224643', 'score': 10.83}, {'connected_gene': 'FRZB', 'score': 6.0}]
chr2 GH02I183123 183123401 183126589 2.09 [{'connected_gene': 'NUP35', 'score': 563.68}, {'connected_gene': 'DUSP19', 'score': 18.05}, {'connected_gene': 'LOC105373774', 'score': 4.76}, {'connected_gene': 'GC02P183146', 'score': 0.34}]
chr2 GH02I183085 183085855 183085885 0.25 [{'connected_gene': 'ENSG00000221498', 'score': 12.36}, {'connected_gene': 'ENSG00000224643', 'score': 12.11}, {'connected_gene': 'NUP35', 'score': 11.26}, {'connected_gene': 'DUSP19', 'score': 0.44}]
chr2 GH02I183091 183091493 183091582 0.63 [{'connected_gene': 'ENSG00000221498', 'score': 11.74}, {'connected_gene': 'NUP35', 'score': 11.15}, {'connected_gene': 'DUSP19', 'score': 0.39}, {'connected_gene': 'ENSG00000224643', 'score': 0.37}]
chr2 GH02I183063 183063119 183063394 0.46 [{'connected_gene': 'GC02M183065', 'score': 550.77}, {'connected_gene': 'GC02P183062', 'score': 550.77}, {'connected_gene': 'ENSG00000221498', 'score': 550.77}, {'connected_gene': 'NUP35', 'score': 8.33}, {'connected_gene': 'DUSP19', 'score': 2.32}]

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