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
ENST00000508140 [[126113781, 126113821], [126114167, 126114272], [126114784, 126114892], [126115332, 126115522], [126126014, 126126070]] None
ENST00000352312 [[126113781, 126113821], [126114784, 126114892], [126126014, 126126095], [126132927, 126133022], [126135158, 126135351], [126137300, 126137368], [126137453, 126137617], [126137918, 126137999], [126138479, 126138661], [126138822, 126138864], [126138945, 126139072], [126142167, 126142219], [126142335, 126142487], [126151911, 126152047], [126153018, 126153224], [126154401, 126154495], [126155133, 126155398]] [[126114843, 126114892], [126126014, 126126095], [126132927, 126133022], [126135158, 126135351], [126137300, 126137368], [126137453, 126137617], [126137918, 126137999], [126138479, 126138661], [126138822, 126138864], [126138945, 126139072], [126142167, 126142219], [126142335, 126142487], [126151911, 126152047], [126153018, 126153224], [126154401, 126154495], [126155133, 126155247]]
ENST00000393425 [[126113781, 126113821], [126114784, 126114892], [126126014, 126126095], [126132927, 126133022], [126135158, 126135351], [126137297, 126137368], [126137453, 126137617], [126137918, 126137999], [126138479, 126138661], [126138822, 126138864], [126138945, 126139072], [126142167, 126142219], [126142335, 126142487], [126151911, 126152047], [126153018, 126153224], [126154401, 126154495], [126155133, 126155398]] [[126114843, 126114892], [126126014, 126126095], [126132927, 126133022], [126135158, 126135351], [126137297, 126137368], [126137453, 126137617], [126137918, 126137999], [126138479, 126138661], [126138822, 126138864], [126138945, 126139072], [126142167, 126142219], [126142335, 126142487], [126151911, 126152047], [126153018, 126153224], [126154401, 126154495], [126155133, 126155247]]
ENST00000510833 [[126114239, 126114272], [126114784, 126114892], [126126014, 126126095], [126132927, 126133186]] [[126114843, 126114892], [126126014, 126126095], [126132927, 126133151]]
ENST00000505024 [[126114814, 126114892], [126126014, 126126095], [126132927, 126133022], [126135158, 126135351], [126137297, 126137368], [126137453, 126137617], [126137918, 126137999], [126138479, 126138661], [126138822, 126138864], [126138945, 126139072], [126142167, 126142219], [126142335, 126142487], [126151911, 126152047], [126153018, 126153224], [126154401, 126154495], [126155133, 126155373]] [[126114843, 126114892], [126126014, 126126095], [126132927, 126133022], [126135158, 126135351], [126137297, 126137368], [126137453, 126137617], [126137918, 126137999], [126138479, 126138661], [126138822, 126138864], [126138945, 126139072], [126142167, 126142219], [126142335, 126142487], [126151911, 126152047], [126153018, 126153224], [126154401, 126154495], [126155133, 126155247]]
ENST00000533201 [[126135177, 126135351], [126135614, 126135706]] None
ENST00000503905 [[126136902, 126137368], [126137453, 126137537]] None
ENST00000507830 [[126138608, 126138661], [126138822, 126138864], [126138945, 126139072], [126139472, 126139693]] None
ENST00000506204 [[126152222, 126152317], [126153018, 126153224], [126154401, 126154495], [126155133, 126155399]] None
NM_182628 [[126113781, 126113821], [126114784, 126114892], [126126014, 126126095], [126132927, 126133022], [126135158, 126135351], [126137300, 126137368], [126137453, 126137617], [126137918, 126137999], [126138479, 126138661], [126138822, 126138864], [126138945, 126139072], [126142167, 126142219], [126142335, 126142487], [126151911, 126152047], [126153018, 126153224], [126154401, 126154495], [126155133, 126155398]] [[126114843, 126114892], [126126014, 126126095], [126132927, 126133022], [126135158, 126135351], [126137300, 126137368], [126137453, 126137617], [126137918, 126137999], [126138479, 126138661], [126138822, 126138864], [126138945, 126139072], [126142167, 126142219], [126142335, 126142487], [126151911, 126152047], [126153018, 126153224], [126154401, 126154495], [126155133, 126155247]]
Promoter
Chrom Start End Description
chr3 126113504 126113523 CAGE_peak_2_at_CCDC37_5end
chr3 126113734 126113794 CAGE_peak_1_at_CCDC37_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I126420 126420558 126420707 0.54 [{'connected_gene': 'CFAP100', 'score': 12.69}, {'connected_gene': 'CCDC37-AS1', 'score': 12.69}, {'connected_gene': 'LOC105374089', 'score': 0.39}]
chr3 GH03I126394 126394975 126395034 0.61 [{'connected_gene': 'CFAP100', 'score': 550.77}, {'connected_gene': 'CCDC37-AS1', 'score': 550.77}, {'connected_gene': 'LOC105374089', 'score': 0.26}]
chr3 GH03I126407 126407837 126408024 0.41 [{'connected_gene': 'KLF15', 'score': 10.63}, {'connected_gene': 'CFAP100', 'score': 0.39}, {'connected_gene': 'LOC105374089', 'score': 0.31}]
chr3 GH03I126338 126338246 126342691 0.83 [{'connected_gene': 'KLF15', 'score': 5.64}, {'connected_gene': 'CFAP100', 'score': 4.96}, {'connected_gene': 'LOC105374088', 'score': 0.31}, {'connected_gene': 'GC03P126153', 'score': 0.09}]
chr3 GH03I126353 126353025 126358521 2.68 [{'connected_gene': 'KLF15', 'score': 566.7}, {'connected_gene': 'LOC101927056', 'score': 13.88}, {'connected_gene': 'ALDH1L1', 'score': 6.58}, {'connected_gene': 'OR7E29P', 'score': 5.38}, {'connected_gene': 'CFAP100', 'score': 1.64}, {'connected_gene': 'UROC1', 'score': 1.5}, {'connected_gene': 'LOC105374088', 'score': 0.26}]
chr3 GH03I126373 126373791 126374436 0.72 [{'connected_gene': 'CCDC37-AS1', 'score': 16.0}, {'connected_gene': 'CFAP100', 'score': 11.38}, {'connected_gene': 'KLF15', 'score': 0.37}]
chr3 GH03I126266 126266196 126269629 1.3 [{'connected_gene': 'ENSG00000250934', 'score': 550.77}, {'connected_gene': 'KLF15', 'score': 10.38}, {'connected_gene': 'CFAP100', 'score': 9.96}, {'connected_gene': 'CCDC37-AS1', 'score': 9.96}, {'connected_gene': 'ALDH1L1', 'score': 9.93}, {'connected_gene': 'ALDH1L1-AS2', 'score': 7.04}, {'connected_gene': 'ENPP7P4', 'score': 4.83}, {'connected_gene': 'ENSG00000251448', 'score': 0.31}, {'connected_gene': 'GC03P126153', 'score': 0.14}]
chr3 GH03I125989 125989801 125991600 1.42 [{'connected_gene': 'PIR42058', 'score': 550.77}, {'connected_gene': 'ALG1L', 'score': 43.66}, {'connected_gene': 'FAM86JP', 'score': 34.15}, {'connected_gene': 'ROPN1B', 'score': 15.45}, {'connected_gene': 'SLC41A3', 'score': 7.84}, {'connected_gene': 'CFAP100', 'score': 2.28}, {'connected_gene': 'ZXDC', 'score': 1.74}, {'connected_gene': 'ENSG00000248607', 'score': 0.2}]