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
ENST00000548523 [[14192430, 14192820], [14193280, 14193415], [14194048, 14194234], [14194316, 14194417], [14194544, 14194689], [14196104, 14196574]] [[14192645, 14192820], [14193280, 14193415], [14194048, 14194234], [14194316, 14194417], [14194544, 14194689], [14196104, 14196439]]
ENST00000343945 [[14192702, 14192820], [14193280, 14193415], [14194048, 14194234], [14194316, 14194417], [14194544, 14194689], [14196535, 14196601]] [[14192702, 14192820], [14193280, 14193415], [14194048, 14194234], [14194316, 14194417], [14194544, 14194652]]
ENST00000547589 [[14194344, 14194417], [14196104, 14196687]] None
NM_001277378 [[14192443, 14192820], [14193280, 14193415], [14194048, 14194234], [14194316, 14194417], [14194544, 14194689], [14196104, 14196607]] [[14192645, 14192820], [14193280, 14193415], [14194048, 14194234], [14194316, 14194417], [14194544, 14194689], [14196104, 14196439]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I014227 14227880 14228618 1.02 [{'connected_gene': 'CCDC130', 'score': 93.71}, {'connected_gene': 'MRI1', 'score': 82.58}, {'connected_gene': 'ZNF333', 'score': 68.37}, {'connected_gene': 'RFX1', 'score': 39.18}, {'connected_gene': 'DCAF15', 'score': 32.11}, {'connected_gene': 'DDX39A', 'score': 20.97}, {'connected_gene': 'NOTCH3', 'score': 13.11}, {'connected_gene': 'SYDE1', 'score': 12.29}, {'connected_gene': 'SNRPGP15', 'score': 11.62}, {'connected_gene': 'C19orf67', 'score': 11.53}, {'connected_gene': 'TECR', 'score': 10.7}, {'connected_gene': 'RN7SL231P', 'score': 0.37}, {'connected_gene': 'ENSG00000267406', 'score': 0.26}]
chr19 GH19I014085 14085768 14085827 1.18 [{'connected_gene': 'C19orf67', 'score': 550.77}, {'connected_gene': 'GC19M014079', 'score': 0.77}]
chr19 GH19I014080 14080001 14082800 1.71 [{'connected_gene': 'GC19M014079', 'score': 550.77}, {'connected_gene': 'PRKACA', 'score': 18.09}, {'connected_gene': 'PALM3', 'score': 16.12}, {'connected_gene': 'ADGRE5', 'score': 5.17}, {'connected_gene': 'ZSWIM4', 'score': 5.03}, {'connected_gene': 'ADGRL1', 'score': 4.68}, {'connected_gene': 'CCDC130', 'score': 2.84}, {'connected_gene': 'RFX1', 'score': 2.66}, {'connected_gene': 'PKN1', 'score': 2.13}, {'connected_gene': 'DCAF15', 'score': 1.75}, {'connected_gene': 'DNAJB1', 'score': 1.38}, {'connected_gene': 'C19orf67', 'score': 0.77}, {'connected_gene': 'MIR1199', 'score': 0.44}]

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