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
ENST00000470323 [[79115480, 79115590], [79119927, 79119964], [79120698, 79120894], [79121046, 79121196], [79124996, 79125168], [79126238, 79126339], [79128388, 79128441]] None
ENST00000370747 [[79115515, 79115590], [79115870, 79116337], [79119927, 79119964], [79120698, 79120894], [79121046, 79121196], [79124996, 79125168], [79126238, 79126339], [79128388, 79128563], [79129449, 79129763]] [[79115880, 79116337], [79119927, 79119964], [79120698, 79120894], [79121046, 79121196], [79124996, 79125168], [79126238, 79126339], [79128388, 79128563], [79129449, 79129496]]
ENST00000438486 [[79115516, 79115590], [79116225, 79116337], [79119927, 79119964], [79120698, 79120894], [79121046, 79121196], [79124996, 79125113]] [[79116252, 79116337], [79119927, 79119964], [79120698, 79120894], [79121046, 79121196], [79124996, 79125113]]
ENST00000545124 [[79115516, 79115590], [79119927, 79119964], [79120698, 79120894], [79121046, 79121196], [79124996, 79125168], [79126238, 79127139]] [[79125005, 79125168], [79126238, 79126465]]
ENST00000495254 [[79115517, 79115590], [79119927, 79119964], [79120698, 79120894], [79121046, 79121196], [79124996, 79125168], [79128388, 79128563], [79129449, 79129763]] None
ENST00000467790 [[79115526, 79115590], [79115870, 79116337], [79119927, 79119964], [79120698, 79121196]] None
ENST00000472152 [[79115542, 79115590], [79119927, 79119964], [79120698, 79120894], [79121046, 79121196], [79124996, 79125168], [79129449, 79129763]] None
ENST00000485662 [[79125003, 79125168], [79126238, 79126376], [79128388, 79128563], [79129449, 79129582]] None
ENST00000476911 [[79128300, 79128563], [79129449, 79129763]] None
ENST00000446486 [[79128419, 79128602], [79129449, 79129763]] [[79128419, 79128602], [79129449, 79129496]]
NR_135640 [[79115473, 79115590], [79119927, 79119964], [79120698, 79120894], [79121046, 79121196], [79124996, 79125168], [79129449, 79129763]] None
NR_135641 [[79115473, 79115590], [79115870, 79116337], [79119927, 79119964], [79120698, 79120894], [79121046, 79121196], [79124996, 79125168], [79128388, 79128563], [79129449, 79129763]] None
NM_006417 [[79115476, 79115590], [79115870, 79116337], [79119927, 79119964], [79120698, 79120894], [79121046, 79121196], [79124996, 79125168], [79126238, 79126339], [79128388, 79128563], [79129449, 79129763]] [[79115880, 79116337], [79119927, 79119964], [79120698, 79120894], [79121046, 79121196], [79124996, 79125168], [79126238, 79126339], [79128388, 79128563], [79129449, 79129496]]
Promoter
Chrom Start End Description
chr1 79115503 79115530 CAGE_peak_1_at_IFI44_5end
chr1 79115553 79115564 CAGE_peak_2_at_IFI44_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I079040 79040401 79041200 0.87 [{'connected_gene': 'ADGRL4', 'score': 11.54}, {'connected_gene': 'IFI44', 'score': 5.31}, {'connected_gene': 'PSAT1P3', 'score': 0.37}]
chr1 GH01I078099 78099994 78105279 1.34 [{'connected_gene': 'GIPC2', 'score': 8.71}, {'connected_gene': 'IFI44', 'score': 4.52}, {'connected_gene': 'RNA5SP22', 'score': 0.44}, {'connected_gene': 'GC01M078095', 'score': 0.44}, {'connected_gene': 'GC01M078144', 'score': 0.23}]
chr1 GH01I078070 78070284 78072412 1.06 [{'connected_gene': 'GIPC2', 'score': 11.22}, {'connected_gene': 'ACTG1P21', 'score': 9.4}, {'connected_gene': 'RNA5SP21', 'score': 9.4}, {'connected_gene': 'MIGA1', 'score': 9.4}, {'connected_gene': 'IFI44', 'score': 6.32}, {'connected_gene': 'RNU6-1102P', 'score': 0.37}, {'connected_gene': 'LOC100131495', 'score': 0.31}]
chr1 GH01I077886 77886914 77891885 2.13 [{'connected_gene': 'NEXN-AS1', 'score': 555.96}, {'connected_gene': 'NEXN', 'score': 555.62}, {'connected_gene': 'USP33', 'score': 10.37}, {'connected_gene': 'GIPC2', 'score': 7.97}, {'connected_gene': 'FUBP1', 'score': 6.25}, {'connected_gene': 'IFI44', 'score': 5.11}]
chr1 GH01I078619 78619040 78622863 1.86 [{'connected_gene': 'IFI44L', 'score': 550.77}, {'connected_gene': 'ZZZ3', 'score': 53.71}, {'connected_gene': 'ENSG00000273338', 'score': 42.24}, {'connected_gene': 'NSRP1P1', 'score': 38.95}, {'connected_gene': 'FUBP1', 'score': 37.61}, {'connected_gene': 'USP33', 'score': 20.4}, {'connected_gene': 'IFI44', 'score': 12.52}]
chr1 GH01I078625 78625996 78626055 0.5 [{'connected_gene': 'IFI44L', 'score': 550.44}, {'connected_gene': 'IFI44', 'score': 12.55}]
chr1 GH01I078649 78649196 78652124 1.62 [{'connected_gene': 'IFI44', 'score': 550.77}, {'connected_gene': 'RPL23P3', 'score': 0.37}]
chr1 GH01I077829 77829281 77835800 1.09 [{'connected_gene': 'RNA5SP21', 'score': 10.83}, {'connected_gene': 'MIGA1', 'score': 10.83}, {'connected_gene': 'ACTG1P21', 'score': 10.82}, {'connected_gene': 'USP33', 'score': 10.56}, {'connected_gene': 'IFI44', 'score': 5.16}, {'connected_gene': 'NEXN', 'score': 4.51}, {'connected_gene': 'FUBP1', 'score': 4.19}, {'connected_gene': 'NSRP1P1', 'score': 0.39}, {'connected_gene': 'LOC653631', 'score': 0.34}]
chr1 GH01I078645 78645601 78645800 0.2 [{'connected_gene': 'NSRP1P1', 'score': 5.05}, {'connected_gene': 'IFI44', 'score': 0.77}, {'connected_gene': 'IFI44L', 'score': 0.31}]