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
ENST00000369405 [[114190057, 114190665], [114191997, 114192044], [114192133, 114192279], [114192997, 114193039], [114194054, 114194222], [114198093, 114198147], [114200291, 114200453], [114201949, 114202109], [114203272, 114203364], [114204927, 114205408], [114206462, 114206672]] [[114190561, 114190665], [114191997, 114192044], [114192133, 114192279], [114192997, 114193039], [114194054, 114194222], [114198093, 114198147], [114200291, 114200453], [114201949, 114202109], [114203272, 114203364], [114204927, 114205194]]
ENST00000369404 [[114190481, 114190665], [114191997, 114192044], [114192133, 114192279], [114192997, 114193039], [114194054, 114194222], [114198093, 114198147], [114200291, 114200453], [114201949, 114202109], [114203272, 114203352], [114204927, 114205408], [114206462, 114206659]] [[114190561, 114190665], [114191997, 114192044], [114192133, 114192279], [114192997, 114193039], [114194054, 114194222], [114198093, 114198147], [114200291, 114200453], [114201949, 114202109], [114203272, 114203352], [114204927, 114205194]]
ENST00000482410 [[114190566, 114190665], [114191997, 114192044], [114192133, 114192279], [114192997, 114193243]] None
ENST00000471035 [[114190581, 114190665], [114191997, 114192044], [114192133, 114192279], [114192997, 114193039], [114193298, 114193328]] None
NM_022494 [[114190047, 114190665], [114191997, 114192044], [114192133, 114192279], [114192997, 114193039], [114194054, 114194222], [114198093, 114198147], [114200291, 114200453], [114201949, 114202109], [114203272, 114203364], [114204927, 114205408], [114206462, 114206717]] [[114190561, 114190665], [114191997, 114192044], [114192133, 114192279], [114192997, 114193039], [114194054, 114194222], [114198093, 114198147], [114200291, 114200453], [114201949, 114202109], [114203272, 114203364], [114204927, 114205194]]
NM_001303134 [[114190047, 114190665], [114191997, 114192044], [114192133, 114192279], [114192997, 114193039], [114194054, 114194222], [114198093, 114198147], [114200291, 114200453], [114201949, 114202109], [114203272, 114203352], [114204927, 114205408], [114206462, 114206717]] [[114190561, 114190665], [114191997, 114192044], [114192133, 114192279], [114192997, 114193039], [114194054, 114194222], [114198093, 114198147], [114200291, 114200453], [114201949, 114202109], [114203272, 114203352], [114204927, 114205194]]
Promoter
Chrom Start End Description
chr10 114206494 114206520 CAGE_peak_3_at_ZDHHC6_5end
chr10 114206626 114206637 CAGE_peak_4_at_ZDHHC6_5end
chr10 114206649 114206688 CAGE_peak_1_at_ZDHHC6_5end
chr10 114206689 114206719 CAGE_peak_2_at_ZDHHC6_5end
chr10 114207322 114207346 CAGE_peak_5_at_ZDHHC6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I113055 113055246 113064488 1.7 [{'connected_gene': 'TCF7L2', 'score': 25.38}, {'connected_gene': 'ZDHHC6', 'score': 13.3}, {'connected_gene': 'VTI1A', 'score': 13.06}, {'connected_gene': 'LOC105378488', 'score': 10.55}, {'connected_gene': 'HABP2', 'score': 2.71}, {'connected_gene': 'RPS15AP30', 'score': 0.19}, {'connected_gene': 'LOC105378489', 'score': 0.1}]
chr10 GH10I112810 112810533 112813577 1.15 [{'connected_gene': 'TCF7L2', 'score': 10.38}, {'connected_gene': 'LOC105378488', 'score': 10.37}, {'connected_gene': 'ZDHHC6', 'score': 4.23}, {'connected_gene': 'LOC105378487', 'score': 0.77}, {'connected_gene': 'PIR40432', 'score': 0.44}, {'connected_gene': 'VTI1A', 'score': 0.05}]
chr10 GH10I113076 113076337 113077869 0.83 [{'connected_gene': 'ZDHHC6', 'score': 39.34}, {'connected_gene': 'ENSG00000225292', 'score': 19.32}, {'connected_gene': 'VTI1A', 'score': 11.61}, {'connected_gene': 'TCF7L2', 'score': 11.16}, {'connected_gene': 'RPS15AP30', 'score': 0.17}, {'connected_gene': 'LOC105378489', 'score': 0.11}]
chr10 GH10I112445 112445787 112448298 2.27 [{'connected_gene': 'ZDHHC6', 'score': 583.62}, {'connected_gene': 'VTI1A', 'score': 563.15}, {'connected_gene': 'ACSL5', 'score': 18.13}, {'connected_gene': 'LOC105378488', 'score': 10.72}, {'connected_gene': 'TCF7L2', 'score': 9.86}, {'connected_gene': 'GC10M112255', 'score': 0.1}]
chr10 GH10I112474 112474002 112477789 0.57 [{'connected_gene': 'ZDHHC6', 'score': 0.31}, {'connected_gene': 'VTI1A', 'score': 0.31}, {'connected_gene': 'GC10P112522', 'score': 0.25}, {'connected_gene': 'GC10M112255', 'score': 0.13}]
chr10 GH10I112455 112455280 112456306 0.43 [{'connected_gene': 'ZDHHC6', 'score': 0.44}, {'connected_gene': 'VTI1A', 'score': 0.44}, {'connected_gene': 'GC10P112522', 'score': 0.2}, {'connected_gene': 'GC10M112255', 'score': 0.11}]
chr10 GH10I112472 112472201 112472400 0.8 [{'connected_gene': 'ZDHHC6', 'score': 0.31}, {'connected_gene': 'VTI1A', 'score': 0.31}, {'connected_gene': 'GC10P112522', 'score': 0.23}, {'connected_gene': 'GC10M112255', 'score': 0.12}]
chr10 GH10I112471 112471962 112472131 0.83 [{'connected_gene': 'ZDHHC6', 'score': 0.34}, {'connected_gene': 'VTI1A', 'score': 0.31}, {'connected_gene': 'GC10P112522', 'score': 0.23}, {'connected_gene': 'GC10M112255', 'score': 0.12}]
chr10 GH10I112438 112438463 112438612 0.4 [{'connected_gene': 'ZDHHC6', 'score': 0.44}, {'connected_gene': 'VTI1A', 'score': 0.44}, {'connected_gene': 'ENSG00000232934', 'score': 0.39}, {'connected_gene': 'GC10M112255', 'score': 0.1}]
chr10 GH10I112482 112482562 112485504 0.38 [{'connected_gene': 'ZDHHC6', 'score': 0.28}, {'connected_gene': 'GC10P112522', 'score': 0.28}, {'connected_gene': 'VTI1A', 'score': 0.28}, {'connected_gene': 'GC10M112255', 'score': 0.13}]
chr10 GH10I113108 113108238 113109031 0.83 [{'connected_gene': 'ZDHHC6', 'score': 9.95}, {'connected_gene': 'LOC105378489', 'score': 0.13}, {'connected_gene': 'RPS15AP30', 'score': 0.13}, {'connected_gene': 'TCF7L2', 'score': 0.1}]
chr10 GH10I112330 112330269 112337359 1.24 [{'connected_gene': 'ACSL5', 'score': 22.95}, {'connected_gene': 'TECTB', 'score': 10.8}, {'connected_gene': 'ZDHHC6', 'score': 5.02}, {'connected_gene': 'PIR60176', 'score': 0.37}, {'connected_gene': 'GUCY2GP', 'score': 0.34}, {'connected_gene': 'MIR6715B', 'score': 0.29}, {'connected_gene': 'GC10M112255', 'score': 0.06}]
chr10 GH10I112359 112359715 112367251 1.27 [{'connected_gene': 'ACSL5', 'score': 24.88}, {'connected_gene': 'ZDHHC6', 'score': 7.09}, {'connected_gene': 'GUCY2GP', 'score': 0.44}, {'connected_gene': 'GC10M112255', 'score': 0.07}]
chr10 GH10I112460 112460362 112462157 0.89 [{'connected_gene': 'ACSL5', 'score': 10.66}, {'connected_gene': 'ZDHHC6', 'score': 0.39}, {'connected_gene': 'VTI1A', 'score': 0.39}, {'connected_gene': 'GC10P112522', 'score': 0.21}, {'connected_gene': 'GC10M112255', 'score': 0.11}]
chr10 GH10I112478 112478630 112480044 0.2 [{'connected_gene': 'ACSL5', 'score': 9.99}, {'connected_gene': 'ZDHHC6', 'score': 0.29}, {'connected_gene': 'VTI1A', 'score': 0.29}, {'connected_gene': 'GC10P112522', 'score': 0.26}, {'connected_gene': 'GC10M112255', 'score': 0.13}]
chr10 GH10I112381 112381827 112392117 2.26 [{'connected_gene': 'ACSL5', 'score': 615.16}, {'connected_gene': 'ZDHHC6', 'score': 7.05}, {'connected_gene': 'VTI1A', 'score': 3.22}, {'connected_gene': 'ENSG00000232934', 'score': 0.28}, {'connected_gene': 'GC10M112255', 'score': 0.08}]
chr10 GH10I112480 112480126 112481183 0.2 [{'connected_gene': 'ACSL5', 'score': 9.99}, {'connected_gene': 'ZDHHC6', 'score': 0.29}, {'connected_gene': 'VTI1A', 'score': 0.29}, {'connected_gene': 'GC10P112522', 'score': 0.26}, {'connected_gene': 'GC10M112255', 'score': 0.13}]
chr10 GH10I112372 112372297 112381554 2.44 [{'connected_gene': 'ACSL5', 'score': 610.36}, {'connected_gene': 'ZDHHC6', 'score': 7.96}, {'connected_gene': 'VTI1A', 'score': 2.84}, {'connected_gene': 'ENSG00000232934', 'score': 0.25}, {'connected_gene': 'GC10M112255', 'score': 0.07}]
chr10 GH10I112427 112427564 112431419 0.4 [{'connected_gene': 'ACSL5', 'score': 21.37}, {'connected_gene': 'ZDHHC6', 'score': 14.48}, {'connected_gene': 'ENSG00000232934', 'score': 0.77}, {'connected_gene': 'VTI1A', 'score': 0.37}, {'connected_gene': 'GC10M112255', 'score': 0.1}]
chr10 GH10I112407 112407411 112410264 0.51 [{'connected_gene': 'ACSL5', 'score': 22.35}, {'connected_gene': 'ZDHHC6', 'score': 15.39}, {'connected_gene': 'ENSG00000232934', 'score': 7.39}, {'connected_gene': 'GC10M112255', 'score': 0.08}]
chr10 GH10I112401 112401350 112401803 0.38 [{'connected_gene': 'ACSL5', 'score': 48.65}, {'connected_gene': 'ZDHHC6', 'score': 13.47}, {'connected_gene': 'ENSG00000232934', 'score': 0.34}, {'connected_gene': 'GC10M112255', 'score': 0.08}]
chr10 GH10I112402 112402573 112407236 0.69 [{'connected_gene': 'ACSL5', 'score': 37.41}, {'connected_gene': 'ZDHHC6', 'score': 14.61}, {'connected_gene': 'ENSG00000232934', 'score': 7.36}, {'connected_gene': 'GC10M112255', 'score': 0.08}]
chr10 GH10I112530 112530602 112537092 1.83 [{'connected_gene': 'ENSG00000233340', 'score': 10.05}, {'connected_gene': 'ZDHHC6', 'score': 1.9}, {'connected_gene': 'VTI1A', 'score': 1.54}, {'connected_gene': 'GC10P112522', 'score': 0.39}, {'connected_gene': 'ENSG00000234017', 'score': 0.37}, {'connected_gene': 'GC10M112255', 'score': 0.19}]
chr10 GH10I112519 112519162 112519391 0.8 [{'connected_gene': 'GC10P112522', 'score': 0.77}, {'connected_gene': 'ZDHHC6', 'score': 0.19}, {'connected_gene': 'VTI1A', 'score': 0.19}, {'connected_gene': 'GC10M112255', 'score': 0.17}]
chr10 GH10I112490 112490628 112490928 1.43 [{'connected_gene': 'GC10P112522', 'score': 0.29}, {'connected_gene': 'ZDHHC6', 'score': 0.26}, {'connected_gene': 'VTI1A', 'score': 0.26}, {'connected_gene': 'GC10M112255', 'score': 0.14}]
chr10 GH10I112498 112498843 112501383 0.57 [{'connected_gene': 'GC10P112522', 'score': 0.34}, {'connected_gene': 'ZDHHC6', 'score': 0.23}, {'connected_gene': 'VTI1A', 'score': 0.23}, {'connected_gene': 'GC10M112255', 'score': 0.15}]
chr10 GH10I112495 112495259 112496473 0.2 [{'connected_gene': 'GC10P112522', 'score': 0.31}, {'connected_gene': 'ZDHHC6', 'score': 0.25}, {'connected_gene': 'VTI1A', 'score': 0.25}, {'connected_gene': 'GC10M112255', 'score': 0.14}]
chr10 GH10I112507 112507463 112508651 0.4 [{'connected_gene': 'GC10P112522', 'score': 0.39}, {'connected_gene': 'ZDHHC6', 'score': 0.21}, {'connected_gene': 'VTI1A', 'score': 0.21}, {'connected_gene': 'GC10M112255', 'score': 0.15}]
chr10 GH10I112435 112435123 112435252 0.54 [{'connected_gene': 'ENSG00000232934', 'score': 0.44}, {'connected_gene': 'ZDHHC6', 'score': 0.39}, {'connected_gene': 'VTI1A', 'score': 0.39}, {'connected_gene': 'GC10M112255', 'score': 0.1}]
chr10 GH10I112517 112517542 112517711 0.82 [{'connected_gene': 'GC10P112522', 'score': 0.44}, {'connected_gene': 'ZDHHC6', 'score': 0.19}, {'connected_gene': 'VTI1A', 'score': 0.19}, {'connected_gene': 'GC10M112255', 'score': 0.17}]
chr10 GH10I112486 112486731 112487921 0.2 [{'connected_gene': 'GC10P112522', 'score': 0.28}, {'connected_gene': 'ZDHHC6', 'score': 0.26}, {'connected_gene': 'VTI1A', 'score': 0.26}, {'connected_gene': 'GC10M112255', 'score': 0.13}]
chr10 GH10I112350 112350163 112350375 0.27 [{'connected_gene': 'PIR60176', 'score': 550.77}, {'connected_gene': 'ACSL5', 'score': 12.03}, {'connected_gene': 'ZDHHC6', 'score': 7.03}, {'connected_gene': 'GUCY2GP', 'score': 0.44}, {'connected_gene': 'MIR6715B', 'score': 0.23}, {'connected_gene': 'GC10M112255', 'score': 0.07}]
chr10 GH10I112423 112423526 112425587 0.58 [{'connected_gene': 'ENSG00000232934', 'score': 550.77}, {'connected_gene': 'ACSL5', 'score': 8.21}, {'connected_gene': 'ZDHHC6', 'score': 0.34}, {'connected_gene': 'GC10M112255', 'score': 0.09}]