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
ENST00000369301 [[115614419, 115614809], [115618286, 115618439], [115636279, 115636735], [115639332, 115639454], [115644009, 115644139], [115657868, 115657968], [115661424, 115661656], [115662229, 115662352], [115663285, 115663495], [115664575, 115664795], [115668038, 115676953]] [[115614631, 115614809], [115618286, 115618439], [115636279, 115636735], [115639332, 115639454], [115644009, 115644139], [115657868, 115657968], [115661424, 115661656], [115662229, 115662352], [115663285, 115663495], [115664575, 115664795], [115668038, 115668295]]
ENST00000468890 [[115614582, 115614809], [115618286, 115618611]] None
NM_198514 [[115614390, 115614809], [115618286, 115618439], [115636279, 115636735], [115639332, 115639454], [115644009, 115644139], [115657868, 115657968], [115661424, 115661656], [115662229, 115662352], [115663285, 115663495], [115664575, 115664795], [115668038, 115672265]] [[115614631, 115614809], [115618286, 115618439], [115636279, 115636735], [115639332, 115639454], [115644009, 115644139], [115657868, 115657968], [115661424, 115661656], [115662229, 115662352], [115663285, 115663495], [115664575, 115664795], [115668038, 115668295]]
Promoter
Chrom Start End Description
chr10 115614370 115614436 CAGE_peak_1_at_NHLRC2_5end
chr10 115614503 115614514 CAGE_peak_4_at_NHLRC2_5end
chr10 115614552 115614563 CAGE_peak_7_at_NHLRC2_5end
chr10 115614611 115614623 CAGE_peak_2_at_NHLRC2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I113851 113851174 113857105 2.26 [{'connected_gene': 'DCLRE1A', 'score': 558.96}, {'connected_gene': 'NHLRC2', 'score': 550.77}, {'connected_gene': 'CCDC186', 'score': 22.01}, {'connected_gene': 'FAM160B1', 'score': 12.84}, {'connected_gene': 'LOC105378488', 'score': 10.71}, {'connected_gene': 'TCF7L2', 'score': 10.45}, {'connected_gene': 'ENSG00000212589', 'score': 0.29}]
chr10 GH10I114365 114365989 114369213 1.17 [{'connected_gene': 'VWA2', 'score': 10.12}, {'connected_gene': 'NHLRC2', 'score': 5.31}, {'connected_gene': 'GC10P114357', 'score': 0.44}, {'connected_gene': 'AFAP1L2', 'score': 0.28}]
chr10 GH10I113891 113891642 113891791 0.31 [{'connected_gene': 'ADRB1', 'score': 11.11}, {'connected_gene': 'TDRD1', 'score': 9.57}, {'connected_gene': 'GC10P113911', 'score': 0.34}, {'connected_gene': 'NHLRC2', 'score': 0.28}]
chr10 GH10I113865 113865879 113866400 0.2 [{'connected_gene': 'ADRB1', 'score': 10.36}, {'connected_gene': 'NHLRC2', 'score': 0.39}, {'connected_gene': 'GC10P113911', 'score': 0.25}]

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