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
ENST00000296581 [[147096836, 147096963], [147104063, 147104167], [147108425, 147108539], [147110773, 147111196]] [[147104073, 147104167], [147108425, 147108539], [147110773, 147110808]]
ENST00000515311 [[147096854, 147096963], [147104063, 147104167], [147108425, 147108539], [147110773, 147110933], [147121094, 147121152]] [[147104073, 147104167], [147108425, 147108539], [147110773, 147110808]]
ENST00000503982 [[147096878, 147096963], [147104063, 147104798]] None
ENST00000502781 [[147096880, 147097589], [147104063, 147104167], [147108425, 147108539], [147110773, 147111198]] [[147104073, 147104167], [147108425, 147108539], [147110773, 147110808]]
ENST00000504181 [[147096899, 147096963], [147104063, 147104167], [147108425, 147108539], [147110773, 147110933], [147111232, 147111339]] [[147104073, 147104167], [147108425, 147108539], [147110773, 147110808]]
ENST00000510331 [[147096921, 147096963], [147097319, 147097838]] None
ENST00000507449 [[147104074, 147104167], [147108425, 147108703]] None
NM_007080 [[147096834, 147096963], [147104063, 147104167], [147108425, 147108539], [147110773, 147111213]] [[147104073, 147104167], [147108425, 147108539], [147110773, 147110808]]
Promoter
Chrom Start End Description
chr4 147096854 147096912 CAGE_peak_1_at_LSM6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I145769 145769601 145770200 0.64 [{'connected_gene': 'OTUD4', 'score': 21.31}, {'connected_gene': 'ENSG00000248356', 'score': 13.58}, {'connected_gene': 'SLC10A7', 'score': 12.19}, {'connected_gene': 'LSM6', 'score': 9.82}, {'connected_gene': 'GC04M145759', 'score': 0.44}, {'connected_gene': 'ENSG00000279481', 'score': 0.21}, {'connected_gene': 'C4orf51', 'score': 0.17}, {'connected_gene': 'ZNF827', 'score': 0.1}]
chr4 GH04I145812 145812255 145813860 0.97 [{'connected_gene': 'OTUD4', 'score': 29.87}, {'connected_gene': 'ENSG00000248356', 'score': 13.55}, {'connected_gene': 'SLC10A7', 'score': 12.19}, {'connected_gene': 'ANAPC10', 'score': 10.03}, {'connected_gene': 'LSM6', 'score': 9.83}, {'connected_gene': 'ENSG00000279481', 'score': 0.37}, {'connected_gene': 'GC04M145759', 'score': 0.23}, {'connected_gene': 'ZNF827', 'score': 0.13}]
chr4 GH04I146146 146146648 146148878 0.52 [{'connected_gene': 'REELD1', 'score': 13.98}, {'connected_gene': 'LSM6', 'score': 10.78}, {'connected_gene': 'LOC105377470', 'score': 0.31}]
chr4 GH04I146165 146165989 146166138 0.43 [{'connected_gene': 'REELD1', 'score': 9.58}, {'connected_gene': 'LSM6', 'score': 0.44}, {'connected_gene': 'LOC105377470', 'score': 0.26}]
chr4 GH04I145934 145934299 145940489 2.03 [{'connected_gene': 'ZNF827', 'score': 561.83}, {'connected_gene': 'GC04M145938', 'score': 550.77}, {'connected_gene': 'SLC10A7', 'score': 13.35}, {'connected_gene': 'LSM6', 'score': 10.03}, {'connected_gene': 'PIR42534', 'score': 0.39}]
chr4 GH04I146273 146273244 146273805 0.84 [{'connected_gene': 'ZNF827', 'score': 1.91}, {'connected_gene': 'LSM6', 'score': 1.85}, {'connected_gene': 'LOC105377472', 'score': 0.34}, {'connected_gene': 'ENSG00000251010', 'score': 0.29}, {'connected_gene': 'SLC10A7', 'score': 0.07}]
chr4 GH04I146175 146175069 146177325 1.96 [{'connected_gene': 'LSM6', 'score': 550.77}, {'connected_gene': 'REELD1', 'score': 43.31}, {'connected_gene': 'ENSG00000279845', 'score': 0.77}]
chr4 GH04I146458 146458025 146459070 0.84 [{'connected_gene': 'LSM6', 'score': 1.22}, {'connected_gene': 'MIR7849', 'score': 0.25}, {'connected_gene': 'SLC10A7', 'score': 0.21}]
chr4 GH04I146269 146269388 146269629 0.73 [{'connected_gene': 'ENSG00000251010', 'score': 10.92}, {'connected_gene': 'REELD1', 'score': 9.85}, {'connected_gene': 'POU4F2', 'score': 9.32}, {'connected_gene': 'ZNF827', 'score': 1.53}, {'connected_gene': 'LSM6', 'score': 1.49}, {'connected_gene': 'LOC105377472', 'score': 0.31}, {'connected_gene': 'SLC10A7', 'score': 0.07}]
chr4 GH04I146191 146191879 146192875 0.49 [{'connected_gene': 'GC04P146190', 'score': 550.77}, {'connected_gene': 'REELD1', 'score': 41.79}, {'connected_gene': 'ENSG00000251010', 'score': 11.4}, {'connected_gene': 'LSM6', 'score': 0.37}]
chr4 GH04I146177 146177801 146178000 0.2 [{'connected_gene': 'ENSG00000279845', 'score': 0.77}, {'connected_gene': 'LSM6', 'score': 0.77}]

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