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
ENST00000391927 [[207217193, 207223068], [207224032, 207224192], [207225529, 207225580]] [[207222364, 207223068], [207224032, 207224192], [207225529, 207225580]]
ENST00000367084 [[207217193, 207223068], [207224032, 207224192], [207225529, 207225668], [207226208, 207226325]] [[207222364, 207223068], [207224032, 207224192], [207225529, 207225580]]
ENST00000315927 [[207217193, 207223068], [207224032, 207224422]] [[207222364, 207223068], [207224032, 207224375]]
NM_001276320 [[207217193, 207223068], [207224032, 207224192], [207225529, 207225668], [207226208, 207226325]] [[207222364, 207223068], [207224032, 207224192], [207225529, 207225580]]
NM_018566 [[207217193, 207223068], [207224032, 207224422]] [[207222364, 207223068], [207224032, 207224375]]
Promoter
Chrom Start End Description
chr1 207224307 207224368 CAGE_peak_1_at_YOD1_5end
chr1 207224547 207224559 CAGE_peak_2_at_YOD1_5end
chr1 207226313 207226335 CAGE_peak_4_at_YOD1_5end
chr1 207226437 207226466 CAGE_peak_3_at_YOD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I207066 207066279 207068660 0.58 [{'connected_gene': 'C1orf116', 'score': 10.44}, {'connected_gene': 'FCAMR', 'score': 10.36}, {'connected_gene': 'PIGR', 'score': 10.33}, {'connected_gene': 'IL20', 'score': 9.84}, {'connected_gene': 'PFKFB2', 'score': 8.28}, {'connected_gene': 'YOD1', 'score': 0.39}, {'connected_gene': 'C4BPB', 'score': 0.34}]
chr1 GH01I207064 207064091 207065188 0.4 [{'connected_gene': 'C1orf116', 'score': 10.44}, {'connected_gene': 'FCAMR', 'score': 10.37}, {'connected_gene': 'PIGR', 'score': 10.33}, {'connected_gene': 'IL20', 'score': 9.84}, {'connected_gene': 'PFKFB2', 'score': 4.93}, {'connected_gene': 'YOD1', 'score': 0.39}, {'connected_gene': 'C4BPB', 'score': 0.34}]
chr1 GH01I207059 207059401 207060200 0.31 [{'connected_gene': 'YOD1', 'score': 0.44}, {'connected_gene': 'PFKFB2', 'score': 0.31}, {'connected_gene': 'C4BPB', 'score': 0.31}]
chr1 GH01I207047 207047601 207047800 0.72 [{'connected_gene': 'YOD1', 'score': 0.44}, {'connected_gene': 'PFKFB2', 'score': 0.39}]
chr1 GH01I207070 207070401 207072137 0.4 [{'connected_gene': 'PFKFB2', 'score': 27.06}, {'connected_gene': 'C1orf116', 'score': 10.88}, {'connected_gene': 'FCAMR', 'score': 10.35}, {'connected_gene': 'PIGR', 'score': 10.33}, {'connected_gene': 'C4BPA', 'score': 10.23}, {'connected_gene': 'IL20', 'score': 9.83}, {'connected_gene': 'YOD1', 'score': 0.37}, {'connected_gene': 'C4BPB', 'score': 0.37}]
chr1 GH01I207073 207073318 207074949 0.38 [{'connected_gene': 'PFKFB2', 'score': 27.99}, {'connected_gene': 'YOD1', 'score': 12.78}, {'connected_gene': 'C1orf116', 'score': 10.66}, {'connected_gene': 'C4BPB', 'score': 0.39}]
chr1 GH01I207048 207048086 207057800 2.51 [{'connected_gene': 'PFKFB2', 'score': 559.05}, {'connected_gene': 'YOD1', 'score': 550.77}, {'connected_gene': 'EIF2D', 'score': 22.36}, {'connected_gene': 'CDCA4P4', 'score': 20.35}, {'connected_gene': 'MAPKAPK2', 'score': 14.81}, {'connected_gene': 'C1orf116', 'score': 10.96}, {'connected_gene': 'CR1', 'score': 10.55}, {'connected_gene': 'CD46', 'score': 9.92}]
chr1 GH01I207039 207039658 207041007 0.8 [{'connected_gene': 'PFKFB2', 'score': 0.44}, {'connected_gene': 'YOD1', 'score': 0.39}]
chr1 GH01I207046 207046601 207047200 0.58 [{'connected_gene': 'PFKFB2', 'score': 8.74}, {'connected_gene': 'YOD1', 'score': 0.44}]
chr1 GH01I207036 207036013 207036399 0.46 [{'connected_gene': 'PFKFB2', 'score': 550.77}, {'connected_gene': 'YOD1', 'score': 0.37}]
chr1 GH01I207077 207077800 207078201 1.27 [{'connected_gene': 'PFKFB2', 'score': 25.82}, {'connected_gene': 'CR1', 'score': 10.7}, {'connected_gene': 'C4BPA', 'score': 10.58}, {'connected_gene': 'FCAMR', 'score': 10.38}, {'connected_gene': 'PIGR', 'score': 10.36}, {'connected_gene': 'C4BPB', 'score': 0.39}, {'connected_gene': 'YOD1', 'score': 0.34}]
chr1 GH01I207084 207084296 207085445 1.33 [{'connected_gene': 'CR1', 'score': 11.31}, {'connected_gene': 'PFKFB2', 'score': 10.55}, {'connected_gene': 'C4BPB', 'score': 0.77}, {'connected_gene': 'YOD1', 'score': 0.29}]
chr1 GH01I207407 207407601 207408309 1.03 [{'connected_gene': 'CR1', 'score': 20.68}, {'connected_gene': 'CD55', 'score': 13.79}, {'connected_gene': 'CR2', 'score': 11.75}, {'connected_gene': 'C4BPB', 'score': 11.39}, {'connected_gene': 'C4BPA', 'score': 10.0}, {'connected_gene': 'CD46', 'score': 3.49}, {'connected_gene': 'YOD1', 'score': 1.63}, {'connected_gene': 'ENSG00000283044', 'score': 0.44}, {'connected_gene': 'ENSG00000274245', 'score': 0.28}]