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
ENST00000403915 [[18059113, 18059313], [18098946, 18099138], [18112216, 18114221]] [[18112275, 18113751]]
ENST00000481414 [[18059933, 18060073], [18098946, 18099138], [18100674, 18100902]] None
ENST00000304101 [[18059944, 18060073], [18098946, 18099138], [18112216, 18114228]] [[18112275, 18113751]]
ENST00000465292 [[18059960, 18060073], [18098946, 18099138], [18351655, 18351774], [18499915, 18500026], [18542832, 18542882]] None
ENST00000419802 [[18060649, 18060728], [18098946, 18099138], [18112216, 18112498]] [[18112275, 18112498]]
NM_001282428 [[18059113, 18059313], [18098946, 18099138], [18112216, 18114225]] [[18112275, 18113751]]
NM_002252 [[18059923, 18060073], [18098946, 18099138], [18112216, 18114225]] [[18112275, 18113751]]
Promoter
Chrom Start End Description
chr2 18059906 18059945 CAGE_peak_1_at_KCNS3_5end
chr2 18059947 18059968 CAGE_peak_2_at_KCNS3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I017877 17877798 17877857 0.76 [{'connected_gene': 'KCNS3', 'score': 550.77}, {'connected_gene': 'ZPAXP', 'score': 0.31}]
chr2 GH02I017934 17934227 17935543 0.43 [{'connected_gene': 'KCNS3', 'score': 10.78}, {'connected_gene': 'ENSG00000260331', 'score': 10.44}, {'connected_gene': 'GC02P017933', 'score': 0.77}, {'connected_gene': 'GC02M017915', 'score': 0.29}]
chr2 GH02I018153 18153916 18155024 0.56 [{'connected_gene': 'KCNS3', 'score': 5.98}, {'connected_gene': 'GC02P018107', 'score': 0.25}, {'connected_gene': 'GC02P018305', 'score': 0.1}]
chr2 GH02I017892 17892708 17893624 0.59 [{'connected_gene': 'KCNS3', 'score': 29.07}, {'connected_gene': 'ENSG00000260331', 'score': 4.32}, {'connected_gene': 'GC02P017933', 'score': 0.28}]
chr2 GH02I018119 18119763 18120432 0.51 [{'connected_gene': 'KCNS3', 'score': 5.54}, {'connected_gene': 'GC02P018107', 'score': 0.39}, {'connected_gene': 'GC02P018305', 'score': 0.09}]
chr2 GH02I018076 18076894 18078379 0.2 [{'connected_gene': 'KCNS3', 'score': 7.26}, {'connected_gene': 'GC02P018107', 'score': 0.31}, {'connected_gene': 'GC02M018040', 'score': 0.28}, {'connected_gene': 'ENSG00000212455', 'score': 0.28}]
chr2 GH02I017878 17878200 17880340 1.85 [{'connected_gene': 'KCNS3', 'score': 589.7}, {'connected_gene': 'GC02P017933', 'score': 0.23}]
chr2 GH02I018065 18065775 18065924 0.31 [{'connected_gene': 'GEN1', 'score': 4.99}, {'connected_gene': 'GC02M018040', 'score': 0.31}, {'connected_gene': 'ENSG00000212455', 'score': 0.31}, {'connected_gene': 'GC02P018107', 'score': 0.26}, {'connected_gene': 'KCNS3', 'score': 0.09}]
chr2 GH02I018046 18046626 18049092 0.88 [{'connected_gene': 'GEN1', 'score': 4.85}, {'connected_gene': 'MSGN1', 'score': 2.37}, {'connected_gene': 'GC02M018040', 'score': 0.44}, {'connected_gene': 'ENSG00000212455', 'score': 0.44}, {'connected_gene': 'GC02P018107', 'score': 0.22}, {'connected_gene': 'KCNS3', 'score': 0.09}]
chr2 GH02I017884 17884888 17884952 0.22 [{'connected_gene': 'MSGN1', 'score': 2.74}, {'connected_gene': 'KCNS3', 'score': 0.44}, {'connected_gene': 'GC02P017933', 'score': 0.25}]
chr2 GH02I018180 18180871 18181228 0.22 [{'connected_gene': 'MSGN1', 'score': 2.36}, {'connected_gene': 'GC02P018107', 'score': 0.19}, {'connected_gene': 'GC02P018305', 'score': 0.13}, {'connected_gene': 'KCNS3', 'score': 0.06}]
chr2 GH02I018311 18311015 18311984 0.69 [{'connected_gene': 'LOC105373451', 'score': 550.77}, {'connected_gene': 'GC02M018309', 'score': 0.77}, {'connected_gene': 'GC02P018305', 'score': 0.44}, {'connected_gene': 'KCNS3', 'score': 0.04}]
chr2 GH02I018066 18066155 18066304 0.31 [{'connected_gene': 'GC02M018040', 'score': 0.31}, {'connected_gene': 'ENSG00000212455', 'score': 0.31}, {'connected_gene': 'GC02P018107', 'score': 0.26}, {'connected_gene': 'KCNS3', 'score': 0.09}]
chr2 GH02I018209 18209833 18210861 0.67 [{'connected_gene': 'GC02P018305', 'score': 0.15}, {'connected_gene': 'GC02P018107', 'score': 0.15}, {'connected_gene': 'KCNS3', 'score': 0.06}]
chr2 GH02I018197 18197422 18197741 0.22 [{'connected_gene': 'GC02P018107', 'score': 0.16}, {'connected_gene': 'GC02P018305', 'score': 0.14}, {'connected_gene': 'KCNS3', 'score': 0.06}]
chr2 GH02I017976 17976346 17978394 0.58 [{'connected_gene': 'GC02M017915', 'score': 0.39}, {'connected_gene': 'GC02M018040', 'score': 0.21}, {'connected_gene': 'ENSG00000212455', 'score': 0.21}, {'connected_gene': 'KCNS3', 'score': 0.15}]
chr2 GH02I017979 17979386 17980339 0.2 [{'connected_gene': 'GC02M017915', 'score': 0.39}, {'connected_gene': 'GC02M018040', 'score': 0.21}, {'connected_gene': 'ENSG00000212455', 'score': 0.21}, {'connected_gene': 'KCNS3', 'score': 0.15}]
chr2 GH02I018068 18068015 18068280 0.26 [{'connected_gene': 'GC02M018040', 'score': 0.31}, {'connected_gene': 'ENSG00000212455', 'score': 0.31}, {'connected_gene': 'GC02P018107', 'score': 0.28}, {'connected_gene': 'KCNS3', 'score': 0.08}]
chr2 GH02I018298 18298911 18301703 1.15 [{'connected_gene': 'GC02P018305', 'score': 0.44}, {'connected_gene': 'LOC105373451', 'score': 0.39}, {'connected_gene': 'GC02P018107', 'score': 0.08}, {'connected_gene': 'KCNS3', 'score': 0.05}]