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
ENST00000262460 [[25388362, 25388531], [25394425, 25394490], [25397739, 25397838], [25398740, 25398831], [25405846, 25405963], [25422337, 25422412], [25426558, 25429191]] [[25388456, 25388531], [25394425, 25394490], [25397739, 25397838], [25398740, 25398831], [25405846, 25405963], [25422337, 25422412], [25426558, 25426627]]
ENST00000481735 [[25423659, 25423751], [25426558, 25426675], [25433077, 25433264]] None
ENST00000429262 [[25388364, 25388531], [25394425, 25394490], [25397739, 25397838], [25398740, 25398831], [25400319, 25400441], [25405846, 25405963], [25422337, 25422412], [25426558, 25426978]] [[25388456, 25388531], [25394425, 25394490], [25397739, 25397838], [25398740, 25398831], [25400319, 25400441], [25405846, 25405892]]
ENST00000484893 [[25388366, 25388531], [25391759, 25391922], [25394425, 25394490], [25397739, 25397838], [25398740, 25398831]] None
ENST00000473460 [[25394092, 25394490], [25397739, 25397882]] None
NM_021067 [[25388318, 25388531], [25394425, 25394490], [25397739, 25397838], [25398740, 25398831], [25405846, 25405963], [25422337, 25422412], [25426558, 25429191]] [[25388456, 25388531], [25394425, 25394490], [25397739, 25397838], [25398740, 25398831], [25405846, 25405963], [25422337, 25422412], [25426558, 25426627]]
NR_134574 [[25388318, 25388531], [25394425, 25394490], [25397739, 25397838], [25398740, 25398831], [25400319, 25400441], [25405846, 25405963], [25422337, 25422412], [25426558, 25429191]] None
Promoter
Chrom Start End Description
chr20 25388293 25388372 CAGE_peak_1_at_GINS1_5end
chr20 25388389 25388400 CAGE_peak_2_at_GINS1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I025406 25406985 25409441 2.07 [{'connected_gene': 'GINS1', 'score': 550.77}, {'connected_gene': 'LOC105372581', 'score': 550.77}, {'connected_gene': 'PIR61298', 'score': 550.77}, {'connected_gene': 'ABHD12', 'score': 32.41}, {'connected_gene': 'NANP', 'score': 20.79}, {'connected_gene': 'PYGB', 'score': 20.47}, {'connected_gene': 'ZNF337', 'score': 10.48}, {'connected_gene': 'FAM182B', 'score': 10.13}, {'connected_gene': 'ZNF337-AS1', 'score': 9.78}]
chr20 GH20I025436 25436665 25437649 0.31 [{'connected_gene': 'ENTPD6', 'score': 11.66}, {'connected_gene': 'PIR61820', 'score': 0.44}, {'connected_gene': 'GINS1', 'score': 0.31}, {'connected_gene': 'GC20P025489', 'score': 0.23}]
chr20 GH20I025089 25089949 25092411 0.92 [{'connected_gene': 'ACSS1', 'score': 15.4}, {'connected_gene': 'VSX1', 'score': 14.19}, {'connected_gene': 'PYGB', 'score': 5.3}, {'connected_gene': 'GINS1', 'score': 1.27}, {'connected_gene': 'LOC391239', 'score': 0.44}]
chr20 GH20I025321 25321154 25322354 0.84 [{'connected_gene': 'ABHD12', 'score': 33.87}, {'connected_gene': 'GINS1', 'score': 12.09}, {'connected_gene': 'PYGB', 'score': 10.62}, {'connected_gene': 'NANP', 'score': 4.29}, {'connected_gene': 'GC20P025297', 'score': 0.34}, {'connected_gene': 'GC20P025348', 'score': 0.31}]
chr20 GH20I025375 25375132 25379927 0.87 [{'connected_gene': 'ABHD12', 'score': 39.42}, {'connected_gene': 'PYGB', 'score': 31.22}, {'connected_gene': 'GINS1', 'score': 13.33}, {'connected_gene': 'NINL', 'score': 11.87}, {'connected_gene': 'ZNF337', 'score': 10.38}, {'connected_gene': 'PPIAP2', 'score': 0.44}]
chr20 GH20I025397 25397197 25399646 1 [{'connected_gene': 'PIR58540', 'score': 550.77}, {'connected_gene': 'ABHD12', 'score': 34.28}, {'connected_gene': 'PYGB', 'score': 20.48}, {'connected_gene': 'ENTPD6', 'score': 11.64}, {'connected_gene': 'ZNF337', 'score': 9.84}, {'connected_gene': 'GINS1', 'score': 0.44}, {'connected_gene': 'LOC105372581', 'score': 0.39}]