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
ENST00000496112 [[44240566, 44240838], [44244166, 44244249], [44245983, 44246084], [44246986, 44247091], [44247731, 44247797], [44251845, 44252488]] [[44240734, 44240838], [44244166, 44244249], [44245983, 44246084], [44246986, 44247091], [44247731, 44247797], [44251845, 44251881]]
ENST00000447123 [[44240610, 44240838], [44244166, 44244249], [44245983, 44246084], [44246986, 44247091], [44247731, 44247797], [44250621, 44250723], [44251152, 44251203], [44251845, 44252194]] None
ENST00000223369 [[44240647, 44240838], [44244166, 44244249], [44245983, 44246084], [44246986, 44247091], [44247731, 44247797], [44250621, 44250723], [44251845, 44253893]] [[44240734, 44240838], [44244166, 44244249], [44245983, 44246084], [44246986, 44247091], [44247731, 44247797], [44250621, 44250723], [44251845, 44251881]]
ENST00000463014 [[44246931, 44247091], [44247731, 44248179]] None
ENST00000478411 [[44247732, 44247797], [44248005, 44248306]] None
ENST00000424864 [[44247734, 44247797], [44250440, 44250530], [44250621, 44250723], [44251152, 44251203], [44251845, 44252212]] [[44247734, 44247797], [44250440, 44250467]]
ENST00000421621 [[44250306, 44250723], [44251845, 44253891]] None
NM_006555 [[44240577, 44240838], [44244166, 44244249], [44245983, 44246084], [44246986, 44247091], [44247731, 44247797], [44250621, 44250723], [44251845, 44253893]] [[44240734, 44240838], [44244166, 44244249], [44245983, 44246084], [44246986, 44247091], [44247731, 44247797], [44250621, 44250723], [44251845, 44251881]]
Promoter
Chrom Start End Description
chr7 44240520 44240652 CAGE_peak_1_at_YKT6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I044182 44182468 44183550 0.2 [{'connected_gene': 'CAMK2B', 'score': 5.83}, {'connected_gene': 'YKT6', 'score': 5.3}, {'connected_gene': 'LOC105375257', 'score': 0.39}, {'connected_gene': 'GCK', 'score': 0.37}]
chr7 GH07I044267 44267353 44270787 0.56 [{'connected_gene': 'CAMK2B', 'score': 4.81}, {'connected_gene': 'YKT6', 'score': 4.45}, {'connected_gene': 'PIR57733', 'score': 0.22}]
chr7 GH07I044194 44194483 44195448 0.54 [{'connected_gene': 'MYL7', 'score': 12.37}, {'connected_gene': 'RNA5SP230', 'score': 12.35}, {'connected_gene': 'POLD2', 'score': 12.33}, {'connected_gene': 'POLM', 'score': 11.33}, {'connected_gene': 'AEBP1', 'score': 11.26}, {'connected_gene': 'YKT6', 'score': 7.59}, {'connected_gene': 'GCK', 'score': 6.61}, {'connected_gene': 'LOC105375257', 'score': 0.34}]
chr7 GH07I044175 44175401 44178706 0.74 [{'connected_gene': 'DDX56', 'score': 11.07}, {'connected_gene': 'TUBG1P', 'score': 10.76}, {'connected_gene': 'NACAD', 'score': 10.25}, {'connected_gene': 'PURB', 'score': 9.83}, {'connected_gene': 'GCK', 'score': 5.93}, {'connected_gene': 'URGCP', 'score': 4.82}, {'connected_gene': 'YKT6', 'score': 4.49}, {'connected_gene': 'LOC105375257', 'score': 0.77}]
chr7 GH07I044184 44184162 44185911 1.03 [{'connected_gene': 'POLM', 'score': 33.36}, {'connected_gene': 'SNORA5C', 'score': 33.05}, {'connected_gene': 'DDX56', 'score': 27.37}, {'connected_gene': 'SNORA5B', 'score': 26.14}, {'connected_gene': 'ENSG00000228434', 'score': 24.86}, {'connected_gene': 'TMED4', 'score': 23.87}, {'connected_gene': 'SNORA5A', 'score': 21.83}, {'connected_gene': 'SPDYE1', 'score': 11.07}, {'connected_gene': 'SNHG15', 'score': 10.27}, {'connected_gene': 'YKT6', 'score': 7.55}, {'connected_gene': 'GCK', 'score': 4.61}, {'connected_gene': 'LOC105375257', 'score': 0.39}]
chr7 GH07I044086 44086611 44090017 1.28 [{'connected_gene': 'POLM', 'score': 23.09}, {'connected_gene': 'RASA4CP', 'score': 16.38}, {'connected_gene': 'UBE2D4', 'score': 15.34}, {'connected_gene': 'ENSG00000241057', 'score': 13.4}, {'connected_gene': 'PGAM2', 'score': 12.04}, {'connected_gene': 'ENSG00000239775', 'score': 12.04}, {'connected_gene': 'POLD2', 'score': 11.7}, {'connected_gene': 'AEBP1', 'score': 2.67}, {'connected_gene': 'YKT6', 'score': 1.43}]
chr7 GH07I044213 44213731 44215124 0.76 [{'connected_gene': 'POLM', 'score': 22.81}, {'connected_gene': 'AEBP1', 'score': 11.1}, {'connected_gene': 'CAMK2B', 'score': 10.71}, {'connected_gene': 'SNORA5C', 'score': 10.23}, {'connected_gene': 'RPL32P18', 'score': 10.11}, {'connected_gene': 'YKT6', 'score': 6.95}, {'connected_gene': 'PIR57733', 'score': 0.77}]
chr7 GH07I044200 44200342 44202309 2.02 [{'connected_gene': 'YKT6', 'score': 560.98}, {'connected_gene': 'AEBP1', 'score': 11.18}, {'connected_gene': 'POLM', 'score': 11.09}, {'connected_gene': 'NUDCD3', 'score': 10.83}, {'connected_gene': 'CAMK2B', 'score': 9.92}, {'connected_gene': 'PIR57733', 'score': 0.44}]
chr7 GH07I043510 43510442 43514464 0.69 [{'connected_gene': 'YKT6', 'score': 4.34}, {'connected_gene': 'LUARIS', 'score': 0.39}, {'connected_gene': 'GC07P043445', 'score': 0.2}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I044172 44172088 44173172 0.38 [{'connected_gene': 'LOC105375257', 'score': 550.77}, {'connected_gene': 'URGCP', 'score': 4.46}, {'connected_gene': 'YKT6', 'score': 4.35}, {'connected_gene': 'GCK', 'score': 0.31}]