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
ENST00000378453 [[2460183, 2461188], [2461284, 2461450], [2461549, 2461684]] [[2460907, 2461188], [2461284, 2461450], [2461549, 2461603]]
NM_001010926 [[2460183, 2461188], [2461284, 2461450], [2461549, 2461684]] [[2460907, 2461188], [2461284, 2461450], [2461549, 2461603]]
Promoter
Chrom Start End Description
chr1 2461692 2461710 CAGE_peak_1_at_HES5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I001685 1685220 1687479 1.24 [{'connected_gene': 'CDK11B', 'score': 11.36}, {'connected_gene': 'HES5', 'score': 5.87}, {'connected_gene': 'ANKRD65', 'score': 4.77}, {'connected_gene': 'GC01M001675', 'score': 0.77}, {'connected_gene': 'SLC35E2B', 'score': 0.44}]
chr1 GH01I003093 3093639 3095479 0.38 [{'connected_gene': 'MORN1', 'score': 14.93}, {'connected_gene': 'FAAP20', 'score': 13.89}, {'connected_gene': 'TP73-AS1', 'score': 13.18}, {'connected_gene': 'PRDM16', 'score': 12.63}, {'connected_gene': 'LINC00982', 'score': 12.63}, {'connected_gene': 'LOC100129534', 'score': 11.79}, {'connected_gene': 'ENSG00000234396', 'score': 11.76}, {'connected_gene': 'HES5', 'score': 5.57}, {'connected_gene': 'PIR58969', 'score': 0.39}, {'connected_gene': 'MIR4251', 'score': 0.29}]
chr1 GH01I002522 2522844 2530166 2.22 [{'connected_gene': 'PANK4', 'score': 555.73}, {'connected_gene': 'ENSG00000224387', 'score': 15.36}, {'connected_gene': 'MORN1', 'score': 15.02}, {'connected_gene': 'FAAP20', 'score': 13.92}, {'connected_gene': 'LOC100129534', 'score': 11.86}, {'connected_gene': 'ENSG00000234396', 'score': 11.79}, {'connected_gene': 'SLC35E2', 'score': 10.84}, {'connected_gene': 'MIB2', 'score': 10.29}, {'connected_gene': 'SLC35E2B', 'score': 9.91}, {'connected_gene': 'LOC100129381', 'score': 9.85}, {'connected_gene': 'MMEL1', 'score': 7.63}, {'connected_gene': 'ENSG00000272449', 'score': 5.8}, {'connected_gene': 'GC01P002529', 'score': 0.77}, {'connected_gene': 'HES5', 'score': 0.77}, {'connected_gene': 'GC01M002529', 'score': 0.77}, {'connected_gene': 'GC01P002503', 'score': 0.34}]
chr1 GH01I002128 2128493 2128555 0.42 [{'connected_gene': 'HES5', 'score': 2.79}, {'connected_gene': 'GC01M002102', 'score': 0.44}, {'connected_gene': 'GC01M002070', 'score': 0.22}, {'connected_gene': 'PRKCZ', 'score': 0.18}]
chr1 GH01I002855 2855994 2856148 0.22 [{'connected_gene': 'HES5', 'score': 2.62}, {'connected_gene': 'GC01M002810', 'score': 0.28}, {'connected_gene': 'PIR61730', 'score': 0.26}, {'connected_gene': 'GC01P002897', 'score': 0.26}]
chr1 GH01I002319 2319899 2323706 1.24 [{'connected_gene': 'ENSG00000272106', 'score': 5.35}, {'connected_gene': 'PLCH2', 'score': 5.34}, {'connected_gene': 'LOC100129534', 'score': 5.32}, {'connected_gene': 'HES5', 'score': 1.35}, {'connected_gene': 'GC01M002322', 'score': 0.77}, {'connected_gene': 'PIR31073', 'score': 0.39}, {'connected_gene': 'MORN1', 'score': 0.2}]
chr1 GH01I002532 2532785 2536119 1.16 [{'connected_gene': 'GC01M002535', 'score': 550.77}, {'connected_gene': 'ENSG00000224387', 'score': 15.39}, {'connected_gene': 'MMEL1', 'score': 11.91}, {'connected_gene': 'ENSG00000272449', 'score': 5.18}, {'connected_gene': 'HES5', 'score': 0.77}]
chr1 GH01I002530 2530253 2530312 0.76 [{'connected_gene': 'GC01P002529', 'score': 550.77}, {'connected_gene': 'HES5', 'score': 550.77}, {'connected_gene': 'GC01M002529', 'score': 550.77}, {'connected_gene': 'MORN1', 'score': 15.02}, {'connected_gene': 'FAAP20', 'score': 13.92}, {'connected_gene': 'LOC100129534', 'score': 11.86}, {'connected_gene': 'ENSG00000234396', 'score': 11.79}, {'connected_gene': 'SLC35E2', 'score': 10.84}, {'connected_gene': 'MIB2', 'score': 10.29}, {'connected_gene': 'SLC35E2B', 'score': 9.9}, {'connected_gene': 'LOC100129381', 'score': 9.85}, {'connected_gene': 'GC01M002535', 'score': 0.44}]