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
ENST00000426997 [[61372242, 61372331], [61389976, 61390090], [61390186, 61390367], [61391488, 61391964]] [[61390193, 61390367], [61391488, 61391662]]
ENST00000432605 [[61389628, 61389744], [61389976, 61390090], [61390186, 61390367], [61391488, 61391964]] [[61389628, 61389744], [61389976, 61390090], [61390186, 61390367], [61391488, 61391662]]
NM_001316317 [[61372202, 61372331], [61390186, 61390367], [61391488, 61391964]] [[61390193, 61390367], [61391488, 61391662]]
NM_001143960 [[61372202, 61372331], [61389976, 61390090], [61390186, 61390367], [61391488, 61391964]] [[61390193, 61390367], [61391488, 61391662]]
NM_001143959 [[61389628, 61389744], [61389976, 61390090], [61390186, 61390367], [61391488, 61391964]] [[61389628, 61389744], [61389976, 61390090], [61390186, 61390367], [61391488, 61391662]]
Promoter
Chrom Start End Description
chr2 61372226 61372273 CAGE_peak_1_at_C2orf74_5end,CAGE_peak_1_at_KIAA1841_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I060837 60837688 60841993 0.98 [{'connected_gene': 'PAPOLG', 'score': 15.87}, {'connected_gene': 'REL', 'score': 13.83}, {'connected_gene': 'LINC01185', 'score': 12.17}, {'connected_gene': 'KIAA1841', 'score': 11.4}, {'connected_gene': 'AHSA2P', 'score': 7.07}, {'connected_gene': 'PUS10', 'score': 6.63}, {'connected_gene': 'ENSG00000232713', 'score': 4.24}, {'connected_gene': 'C2orf74', 'score': 3.48}, {'connected_gene': 'PEX13', 'score': 2.16}, {'connected_gene': 'RN7SL632P', 'score': 0.44}, {'connected_gene': 'RPL21P33', 'score': 0.39}]
chr2 GH02I061158 61158617 61158949 0.39 [{'connected_gene': 'REL', 'score': 4.57}, {'connected_gene': 'LOC105374758', 'score': 0.77}, {'connected_gene': 'PIR46388', 'score': 0.44}, {'connected_gene': 'C2orf74', 'score': 0.39}, {'connected_gene': 'ENSG00000274769', 'score': 0.26}]
chr2 GH02I061144 61144201 61145958 1.9 [{'connected_gene': 'LOC339803', 'score': 589.15}, {'connected_gene': 'PIR40098', 'score': 550.77}, {'connected_gene': 'C2orf74', 'score': 550.77}, {'connected_gene': 'AHSA2P', 'score': 35.34}, {'connected_gene': 'PIR46388', 'score': 0.44}, {'connected_gene': 'ENSG00000274769', 'score': 0.31}, {'connected_gene': 'KIAA1841', 'score': 0.18}]