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
ENST00000537618 [[124894744, 124895253], [124910390, 124910556], [124914523, 124914687], [124921905, 124922066]] [[124895247, 124895253], [124910390, 124910556], [124914523, 124914687], [124921905, 124921956]]
ENST00000373768 [[124906336, 124906657], [124910390, 124910556], [124914523, 124914687], [124921905, 124922098]] [[124906519, 124906657], [124910390, 124910556], [124914523, 124914687], [124921905, 124921956]]
NM_001318195 [[124894744, 124895253], [124910390, 124910556], [124914523, 124914687], [124921905, 124922098]] [[124895247, 124895253], [124910390, 124910556], [124914523, 124914687], [124921905, 124921956]]
NM_014222 [[124906336, 124906657], [124910390, 124910556], [124914523, 124914687], [124921905, 124922098]] [[124906519, 124906657], [124910390, 124910556], [124914523, 124914687], [124921905, 124921956]]
Promoter
Chrom Start End Description
chr9 124922006 124922019 CAGE_peak_2_at_NDUFA8_5end
chr9 124922021 124922074 CAGE_peak_1_at_NDUFA8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I122140 122140522 122140671 0.69 [{'connected_gene': 'MRRF', 'score': 10.94}, {'connected_gene': 'RBM18', 'score': 10.94}, {'connected_gene': 'TTLL11', 'score': 10.91}, {'connected_gene': 'OR1K1', 'score': 9.76}, {'connected_gene': 'NDUFA8', 'score': 0.37}, {'connected_gene': 'MIR4478', 'score': 0.34}]
chr9 GH09I122134 122134862 122135011 0.57 [{'connected_gene': 'PTGS1', 'score': 10.79}, {'connected_gene': 'TTLL11', 'score': 10.66}, {'connected_gene': 'MIR4478', 'score': 0.39}, {'connected_gene': 'NDUFA8', 'score': 0.34}]
chr9 GH09I122135 122135022 122135171 0.57 [{'connected_gene': 'PTGS1', 'score': 10.79}, {'connected_gene': 'TTLL11', 'score': 10.66}, {'connected_gene': 'MIR4478', 'score': 0.39}, {'connected_gene': 'NDUFA8', 'score': 0.34}]
chr9 GH09I122133 122133762 122133911 0.31 [{'connected_gene': 'PTGS1', 'score': 10.79}, {'connected_gene': 'TTLL11', 'score': 10.66}, {'connected_gene': 'MIR4478', 'score': 0.39}, {'connected_gene': 'NDUFA8', 'score': 0.31}]
chr9 GH09I122158 122158322 122158531 0.63 [{'connected_gene': 'MORN5', 'score': 550.77}, {'connected_gene': 'NDUFA8', 'score': 550.77}, {'connected_gene': 'MIR4478', 'score': 0.28}]
chr9 GH09I122159 122158600 122160431 1.95 [{'connected_gene': 'MORN5', 'score': 550.77}, {'connected_gene': 'NDUFA8', 'score': 550.77}, {'connected_gene': 'MIR4478', 'score': 0.28}]
chr9 GH09I122125 122125082 122127847 1.06 [{'connected_gene': 'TTLL11', 'score': 11.39}, {'connected_gene': 'MRRF', 'score': 10.6}, {'connected_gene': 'RBM18', 'score': 10.6}, {'connected_gene': 'PTGS1', 'score': 10.07}, {'connected_gene': 'OR1K1', 'score': 10.0}, {'connected_gene': 'MIR4478', 'score': 0.44}, {'connected_gene': 'NDUFA8', 'score': 0.29}]
chr9 GH09I122131 122131702 122131851 0.46 [{'connected_gene': 'TTLL11', 'score': 11.31}, {'connected_gene': 'LHX6', 'score': 10.35}, {'connected_gene': 'OR1K1', 'score': 9.52}, {'connected_gene': 'MIR4478', 'score': 0.39}, {'connected_gene': 'NDUFA8', 'score': 0.31}]
chr9 GH09I122123 122123082 122123251 0.8 [{'connected_gene': 'MIR4478', 'score': 0.77}, {'connected_gene': 'NDUFA8', 'score': 0.28}]