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
ENST00000530028 [[49170082, 49172380]] [[49170373, 49170937]]
ENST00000560490 [[49170332, 49170469], [49170535, 49170982]] [[49170373, 49170469], [49170535, 49170937]]
ENST00000558295 [[49170332, 49170469], [49171063, 49171656]] None
NM_014335 [[49170289, 49172380]] [[49170373, 49170937]]
Promoter
Chrom Start End Description
chr15 49170102 49170111 CAGE_peak_4_at_EID1_5end
chr15 49170113 49170133 CAGE_peak_2_at_EID1_5end
chr15 49170195 49170206 CAGE_peak_3_at_EID1_5end
chr15 49170281 49170365 CAGE_peak_1_at_EID1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I048856 48856805 48857713 0.38 [{'connected_gene': 'SHC4', 'score': 11.46}, {'connected_gene': 'EID1', 'score': 0.34}, {'connected_gene': 'CEP152', 'score': 0.25}]
chr15 GH15I048861 48861944 48862133 0.65 [{'connected_gene': 'SHC4', 'score': 11.87}, {'connected_gene': 'EID1', 'score': 0.37}, {'connected_gene': 'CEP152', 'score': 0.23}]
chr15 GH15I048858 48858207 48859133 0.82 [{'connected_gene': 'SHC4', 'score': 11.46}, {'connected_gene': 'EID1', 'score': 0.37}, {'connected_gene': 'CEP152', 'score': 0.25}]
chr15 GH15I048869 48869615 48870430 0.2 [{'connected_gene': 'SHC4', 'score': 11.41}, {'connected_gene': 'EID1', 'score': 0.44}, {'connected_gene': 'CEP152', 'score': 0.22}]
chr15 GH15I048872 48871664 48871813 0.49 [{'connected_gene': 'SHC4', 'score': 10.85}, {'connected_gene': 'CEP152', 'score': 9.82}, {'connected_gene': 'EID1', 'score': 0.44}]
chr15 GH15I048871 48871168 48871639 0.49 [{'connected_gene': 'SHC4', 'score': 10.75}, {'connected_gene': 'CEP152', 'score': 9.82}, {'connected_gene': 'EID1', 'score': 0.44}]
chr15 GH15I048864 48864942 48869148 0.94 [{'connected_gene': 'SHC4', 'score': 11.4}, {'connected_gene': 'CEP152', 'score': 6.01}, {'connected_gene': 'EID1', 'score': 0.39}]
chr15 GH15I048823 48823004 48824094 0.2 [{'connected_gene': 'SHC4', 'score': 9.97}, {'connected_gene': 'FBN1', 'score': 9.65}, {'connected_gene': 'CEP152', 'score': 5.92}, {'connected_gene': 'EID1', 'score': 0.23}]
chr15 GH15I048878 48877303 48879401 2.01 [{'connected_gene': 'EID1', 'score': 550.77}, {'connected_gene': 'SHC4', 'score': 10.9}, {'connected_gene': 'CEP152', 'score': 10.72}, {'connected_gene': 'GC15M048879', 'score': 0.77}]
chr15 GH15I048877 48877078 48877173 0.31 [{'connected_gene': 'EID1', 'score': 550.77}, {'connected_gene': 'CEP152', 'score': 0.2}, {'connected_gene': 'SHC4', 'score': 0.17}]
chr15 GH15I048833 48833351 48834293 0.46 [{'connected_gene': 'CEP152', 'score': 16.82}, {'connected_gene': 'SHC4', 'score': 10.22}, {'connected_gene': 'EID1', 'score': 0.26}]
chr15 GH15I048855 48855441 48856593 0.95 [{'connected_gene': 'DUT', 'score': 18.68}, {'connected_gene': 'ENSG00000259488', 'score': 13.83}, {'connected_gene': 'SHC4', 'score': 11.46}, {'connected_gene': 'EID1', 'score': 0.34}, {'connected_gene': 'CEP152', 'score': 0.26}]