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
ENST00000252506 [[92219927, 92220089], [92220346, 92220448], [92220581, 92220795], [92220883, 92221470]] [[92220036, 92220089], [92220346, 92220448], [92220581, 92220795], [92220883, 92220994]]
ENST00000375769 [[92219952, 92220448], [92220581, 92220795], [92220883, 92221150]] [[92220347, 92220448], [92220581, 92220795], [92220883, 92220994]]
ENST00000494726 [[92220006, 92220448], [92220672, 92220795], [92220883, 92221013]] None
NM_006705 [[92219926, 92220089], [92220346, 92220448], [92220581, 92220795], [92220883, 92221470]] [[92220036, 92220089], [92220346, 92220448], [92220581, 92220795], [92220883, 92220994]]
Promoter
Chrom Start End Description
chr9 92219919 92219934 CAGE_peak_1_at_GADD45G_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I089659 89659618 89666096 1.26 [{'connected_gene': 'SECISBP2', 'score': 13.15}, {'connected_gene': 'GADD45G', 'score': 11.53}, {'connected_gene': 'LOC102724237', 'score': 0.39}, {'connected_gene': 'UNQ6494', 'score': 0.34}]
chr9 GH09I089922 89922209 89924602 0.84 [{'connected_gene': 'SECISBP2', 'score': 12.06}, {'connected_gene': 'GADD45G', 'score': 11.58}, {'connected_gene': 'LOC101927847', 'score': 0.25}, {'connected_gene': 'ENSG00000236507', 'score': 0.13}]
chr9 GH09I090100 90099439 90099588 0.72 [{'connected_gene': 'GADD45G', 'score': 12.2}, {'connected_gene': 'SECISBP2', 'score': 12.06}, {'connected_gene': 'ENSG00000278382', 'score': 0.44}, {'connected_gene': 'IL6RP1', 'score': 0.37}]
chr9 GH09I090079 90079199 90079348 0.31 [{'connected_gene': 'GADD45G', 'score': 11.64}, {'connected_gene': 'GC09M090082', 'score': 0.77}, {'connected_gene': 'MIR4290HG', 'score': 0.28}]
chr9 GH09I090086 90086200 90086401 0.31 [{'connected_gene': 'GADD45G', 'score': 11.53}, {'connected_gene': 'IL6RP1', 'score': 0.77}, {'connected_gene': 'ENSG00000278382', 'score': 0.34}]
chr9 GH09I090095 90095484 90096293 0.38 [{'connected_gene': 'GADD45G', 'score': 12.2}, {'connected_gene': 'ENSG00000278382', 'score': 0.39}, {'connected_gene': 'IL6RP1', 'score': 0.39}]
chr9 GH09I090102 90102201 90102548 0.92 [{'connected_gene': 'GADD45G', 'score': 12.26}, {'connected_gene': 'ENSG00000278382', 'score': 0.44}, {'connected_gene': 'IL6RP1', 'score': 0.37}]
chr9 GH09I090099 90099759 90099908 0.38 [{'connected_gene': 'GADD45G', 'score': 12.2}, {'connected_gene': 'ENSG00000278382', 'score': 0.44}, {'connected_gene': 'IL6RP1', 'score': 0.37}]
chr9 GH09I089694 89694926 89695974 0.38 [{'connected_gene': 'GADD45G', 'score': 10.88}, {'connected_gene': 'LOC105376140', 'score': 0.44}, {'connected_gene': 'LOC102724237', 'score': 0.34}, {'connected_gene': 'UNQ6494', 'score': 0.22}]
chr9 GH09I089710 89710601 89711400 0.74 [{'connected_gene': 'GADD45G', 'score': 10.44}, {'connected_gene': 'LOC105376140', 'score': 0.44}, {'connected_gene': 'UNQ6494', 'score': 0.19}, {'connected_gene': 'LOC101927823', 'score': 0.17}]
chr9 GH09I089603 89603086 89608062 2.48 [{'connected_gene': 'GADD45G', 'score': 567.83}, {'connected_gene': 'LOC105376139', 'score': 550.77}, {'connected_gene': 'LOC286238', 'score': 4.18}, {'connected_gene': 'GC09M089619', 'score': 0.39}]
chr9 GH09I089593 89593086 89594575 0.73 [{'connected_gene': 'GADD45G', 'score': 5.08}, {'connected_gene': 'LOC105376139', 'score': 0.39}, {'connected_gene': 'LOC105376137', 'score': 0.2}]
chr9 GH09I089564 89564626 89564775 0.64 [{'connected_gene': 'GADD45G', 'score': 11.0}, {'connected_gene': 'LOC105376137', 'score': 0.28}, {'connected_gene': 'LOC105376139', 'score': 0.26}]
chr9 GH09I089684 89684014 89687938 0.89 [{'connected_gene': 'GADD45G', 'score': 11.34}, {'connected_gene': 'LOC102724237', 'score': 0.39}, {'connected_gene': 'LOC105376140', 'score': 0.37}, {'connected_gene': 'UNQ6494', 'score': 0.25}]
chr9 GH09I089682 89682280 89683295 0.2 [{'connected_gene': 'GADD45G', 'score': 11.34}, {'connected_gene': 'LOC102724237', 'score': 0.44}, {'connected_gene': 'LOC105376140', 'score': 0.37}, {'connected_gene': 'UNQ6494', 'score': 0.26}]
chr9 GH09I089666 89666101 89667397 0.64 [{'connected_gene': 'GADD45G', 'score': 11.51}, {'connected_gene': 'LOC102724237', 'score': 0.44}, {'connected_gene': 'UNQ6494', 'score': 0.31}]
chr9 GH09I089929 89929194 89930868 0.2 [{'connected_gene': 'GADD45G', 'score': 11.25}, {'connected_gene': 'LOC101927847', 'score': 0.28}, {'connected_gene': 'ENSG00000236507', 'score': 0.13}]
chr9 GH09I089926 89926759 89926908 0.31 [{'connected_gene': 'GADD45G', 'score': 12.02}, {'connected_gene': 'LOC101927847', 'score': 0.26}, {'connected_gene': 'ENSG00000236507', 'score': 0.13}]
chr9 GH09I089756 89756994 89757163 0.66 [{'connected_gene': 'GADD45G', 'score': 10.88}, {'connected_gene': 'LOC101927823', 'score': 0.26}, {'connected_gene': 'LOC105376140', 'score': 0.23}]
chr9 GH09I089759 89759380 89760885 0.76 [{'connected_gene': 'GADD45G', 'score': 10.88}, {'connected_gene': 'LOC101927823', 'score': 0.28}, {'connected_gene': 'LOC105376140', 'score': 0.22}]
chr9 GH09I089992 89992036 89996116 1.53 [{'connected_gene': 'GADD45G', 'score': 10.91}, {'connected_gene': 'GC09M089956', 'score': 0.37}, {'connected_gene': 'MIR4290', 'score': 0.31}]
chr9 GH09I089647 89647021 89647863 0.31 [{'connected_gene': 'GADD45G', 'score': 11.56}, {'connected_gene': 'UNQ6494', 'score': 0.44}, {'connected_gene': 'LOC102724237', 'score': 0.31}]
chr9 GH09I089648 89648430 89649962 0.92 [{'connected_gene': 'GADD45G', 'score': 11.56}, {'connected_gene': 'UNQ6494', 'score': 5.65}, {'connected_gene': 'LOC102724237', 'score': 0.34}]
chr9 GH09I089627 89627217 89627884 0.2 [{'connected_gene': 'GADD45G', 'score': 12.24}, {'connected_gene': 'GC09M089629', 'score': 0.77}, {'connected_gene': 'GC09M089619', 'score': 0.44}]
chr9 GH09I089622 89622924 89624846 0.86 [{'connected_gene': 'GADD45G', 'score': 4.81}, {'connected_gene': 'GC09M089619', 'score': 0.77}, {'connected_gene': 'GC09M089629', 'score': 0.44}]
chr9 GH09I089700 89700707 89702442 0.92 [{'connected_gene': 'LOC105376140', 'score': 550.77}, {'connected_gene': 'GADD45G', 'score': 10.62}, {'connected_gene': 'LOC102724237', 'score': 0.31}, {'connected_gene': 'UNQ6494', 'score': 0.21}]
chr9 GH09I090105 90105236 90109317 0.74 [{'connected_gene': 'ENSG00000278382', 'score': 550.77}, {'connected_gene': 'GADD45G', 'score': 12.25}, {'connected_gene': 'IL6RP1', 'score': 0.34}]
chr9 GH09I089620 89619712 89620296 0.31 [{'connected_gene': 'GC09M089619', 'score': 550.77}, {'connected_gene': 'GADD45G', 'score': 0.39}]
chr9 GH09I089617 89617806 89618696 0.69 [{'connected_gene': 'GC09M089619', 'score': 550.77}, {'connected_gene': 'GADD45G', 'score': 0.39}]
chr9 GH09I089619 89619186 89619335 0.31 [{'connected_gene': 'GC09M089619', 'score': 550.77}, {'connected_gene': 'GADD45G', 'score': 0.39}]