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
ENST00000470041 [[206136915, 206137078], [206141445, 206141523], [206145453, 206145578], [206153956, 206154164]] None
ENST00000468509 [[206137236, 206137486], [206137771, 206138150]] [[206137334, 206137486], [206137771, 206137832]]
ENST00000367129 [[206137264, 206137486], [206141445, 206141523], [206145453, 206145578], [206153956, 206154207]] [[206137334, 206137486], [206141445, 206141523], [206145453, 206145578], [206153956, 206154051]]
ENST00000367128 [[206138456, 206139456], [206141445, 206141523], [206145453, 206145578], [206153956, 206155151]] [[206139304, 206139456], [206141445, 206141523], [206145453, 206145578], [206153956, 206154051]]
ENST00000481737 [[206138478, 206138720], [206139440, 206139456], [206141445, 206141523], [206145453, 206145490]] None
ENST00000431655 [[206138502, 206138814], [206139324, 206139456], [206141445, 206141523], [206145453, 206145578], [206153956, 206154049]] [[206139391, 206139456], [206141445, 206141523], [206145453, 206145578], [206153956, 206154049]]
ENST00000341209 [[206138883, 206139336], [206141445, 206141523], [206145453, 206145578], [206153956, 206155074]] [[206139304, 206139336], [206141445, 206141523], [206145453, 206145578], [206153956, 206154051]]
ENST00000607379 [[206138910, 206140049]] [[206139304, 206139460]]
NM_001317901 [[206137264, 206137486], [206141445, 206141523], [206145453, 206145578], [206153956, 206155151]] [[206137334, 206137486], [206141445, 206141523], [206145453, 206145578], [206153956, 206154051]]
NR_134239 [[206138454, 206138720], [206139440, 206139456], [206141445, 206141523], [206145453, 206145578], [206153956, 206155151]] None
NM_001123168 [[206138454, 206139456], [206141445, 206141523], [206145453, 206145578], [206153956, 206155151]] [[206139304, 206139456], [206141445, 206141523], [206145453, 206145578], [206153956, 206154051]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I206201 206201800 206206001 1.92 [{'connected_gene': 'FAM72A', 'score': 550.77}, {'connected_gene': 'SRGAP2', 'score': 550.77}]
chr1 GH01I206219 206219602 206221199 0.2 [{'connected_gene': 'FAM72A', 'score': 0.37}, {'connected_gene': 'SRGAP2', 'score': 0.37}, {'connected_gene': 'PIR37211', 'score': 0.31}]
chr1 GH01I206245 206245000 206247600 0.31 [{'connected_gene': 'PIR37211', 'score': 550.77}, {'connected_gene': 'FAM72A', 'score': 0.26}, {'connected_gene': 'SRGAP2', 'score': 0.26}]
chr1 GH01I206239 206239601 206241400 0.58 [{'connected_gene': 'PIR37211', 'score': 0.44}, {'connected_gene': 'FAM72A', 'score': 0.28}, {'connected_gene': 'SRGAP2', 'score': 0.28}]
chr1 GH01I206238 206238801 206239400 0.2 [{'connected_gene': 'PIR37211', 'score': 0.44}, {'connected_gene': 'FAM72A', 'score': 0.29}, {'connected_gene': 'SRGAP2', 'score': 0.28}]
chr1 GH01I206242 206242802 206243999 0.79 [{'connected_gene': 'PIR37211', 'score': 0.77}, {'connected_gene': 'FAM72A', 'score': 0.28}, {'connected_gene': 'SRGAP2', 'score': 0.26}]
chr1 GH01I206233 206233001 206233600 0.38 [{'connected_gene': 'PIR37211', 'score': 0.39}, {'connected_gene': 'FAM72A', 'score': 0.31}, {'connected_gene': 'SRGAP2', 'score': 0.31}]
chr1 GH01I206227 206227401 206227600 0.2 [{'connected_gene': 'PIR37211', 'score': 0.34}, {'connected_gene': 'FAM72A', 'score': 0.34}, {'connected_gene': 'SRGAP2', 'score': 0.34}]