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
ENST00000358151 [[114287438, 114287542], [114289547, 114290087], [114293154, 114293243], [114296018, 114296145], [114296540, 114296633], [114338644, 114340124]] [[114289675, 114290087], [114293154, 114293243], [114296018, 114296145], [114296540, 114296633], [114338644, 114338694]]
ENST00000355824 [[114287468, 114287542], [114289547, 114290087], [114293154, 114293243], [114296018, 114296145], [114296540, 114296633], [114301725, 114302041]] [[114289675, 114290087], [114293154, 114293243], [114296018, 114296145], [114296540, 114296633], [114301725, 114301739]]
ENST00000309235 [[114287512, 114287542], [114289547, 114290087], [114293154, 114293243], [114296018, 114296145], [114296540, 114296633], [114303936, 114306712]] [[114289675, 114290087], [114293154, 114293243], [114296018, 114296145], [114296540, 114296633], [114303936, 114305450]]
ENST00000374374 [[114287495, 114287542], [114289547, 114290300]] [[114289675, 114290212]]
NM_133464 [[114287438, 114287542], [114289547, 114290087], [114293154, 114293243], [114296018, 114296145], [114296540, 114296633], [114303936, 114306712]] [[114289675, 114290087], [114293154, 114293243], [114296018, 114296145], [114296540, 114296633], [114303936, 114305450]]
NM_001007169 [[114287438, 114287542], [114289547, 114290087], [114293154, 114293243], [114296018, 114296145], [114296540, 114296633], [114338644, 114340124]] [[114289675, 114290087], [114293154, 114293243], [114296018, 114296145], [114296540, 114296633], [114338644, 114338694]]
Promoter
Chrom Start End Description
chr9 114287429 114287432 CAGE_peak_2_at_ZNF483_5end
chr9 114287433 114287513 CAGE_peak_1_at_ZNF483_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I112336 112336227 112339298 0.97 [{'connected_gene': 'ZFP37', 'score': 20.11}, {'connected_gene': 'SUSD1', 'score': 18.28}, {'connected_gene': 'ZNF483', 'score': 15.96}, {'connected_gene': 'HSDL2', 'score': 7.7}, {'connected_gene': 'PTBP3', 'score': 0.77}, {'connected_gene': 'GC09M112353', 'score': 0.37}]
chr9 GH09I111235 111235503 111237199 0.2 [{'connected_gene': 'OR2K2', 'score': 9.6}, {'connected_gene': 'LPAR1', 'score': 6.06}, {'connected_gene': 'ZNF483', 'score': 4.91}, {'connected_gene': 'MIR7702', 'score': 0.29}, {'connected_gene': 'ENSG00000227531', 'score': 0.25}, {'connected_gene': 'LOC105376219', 'score': 0.25}, {'connected_gene': 'RNY4P18', 'score': 0.12}, {'connected_gene': 'GC09M111098', 'score': 0.12}]
chr9 GH09I111597 111597767 111600402 1.88 [{'connected_gene': 'PTGR1', 'score': 566.3}, {'connected_gene': 'GNG10', 'score': 16.06}, {'connected_gene': 'LRRC37A5P', 'score': 6.67}, {'connected_gene': 'ZNF483', 'score': 5.82}, {'connected_gene': 'ENSG00000224644', 'score': 0.34}]
chr9 GH09I111600 111600888 111602001 1.25 [{'connected_gene': 'PTGR1', 'score': 560.65}, {'connected_gene': 'GNG10', 'score': 13.09}, {'connected_gene': 'ZNF483', 'score': 5.81}, {'connected_gene': 'ECPAS', 'score': 2.1}, {'connected_gene': 'PIR33411', 'score': 0.44}]
chr9 GH09I111232 111232961 111234594 0.43 [{'connected_gene': 'PTGR1', 'score': 7.28}, {'connected_gene': 'LPAR1', 'score': 6.62}, {'connected_gene': 'ZNF483', 'score': 4.72}, {'connected_gene': 'GNG10', 'score': 4.61}, {'connected_gene': 'MIR7702', 'score': 0.28}, {'connected_gene': 'LOC105376219', 'score': 0.23}, {'connected_gene': 'ENSG00000227531', 'score': 0.23}, {'connected_gene': 'RNY4P18', 'score': 0.12}, {'connected_gene': 'GC09M111098', 'score': 0.12}]
chr9 GH09I111470 111470386 111471757 0.2 [{'connected_gene': 'PTGR1', 'score': 8.45}, {'connected_gene': 'ZNF483', 'score': 8.12}, {'connected_gene': 'ECPAS', 'score': 0.39}, {'connected_gene': 'RNA5SP294', 'score': 0.22}]
chr9 GH09I111065 111065746 111069467 1.05 [{'connected_gene': 'LPAR1', 'score': 11.82}, {'connected_gene': 'ZNF483', 'score': 5.1}, {'connected_gene': 'RNY4P18', 'score': 0.31}, {'connected_gene': 'GC09M111098', 'score': 0.31}]
chr9 GH09I110536 110536901 110537070 0.78 [{'connected_gene': 'ZNF483', 'score': 13.58}, {'connected_gene': 'GC09M110541', 'score': 0.77}, {'connected_gene': 'SVEP1', 'score': 0.26}, {'connected_gene': 'RNU6-1039P', 'score': 0.1}, {'connected_gene': 'GC09M110370', 'score': 0.1}]
chr9 GH09I111407 111407629 111408272 0.31 [{'connected_gene': 'ZNF483', 'score': 6.12}, {'connected_gene': 'SVEP1', 'score': 4.93}, {'connected_gene': 'RNA5SP294', 'score': 0.77}, {'connected_gene': 'PIR34688', 'score': 0.19}, {'connected_gene': 'ECPAS', 'score': 0.18}]
chr9 GH09I111356 111356152 111357279 0.74 [{'connected_gene': 'ZNF483', 'score': 7.87}, {'connected_gene': 'PTGR1', 'score': 5.86}, {'connected_gene': 'PIR34688', 'score': 0.37}, {'connected_gene': 'RNA5SP294', 'score': 0.22}]
chr9 GH09I112007 112007662 112008565 0.57 [{'connected_gene': 'ZNF483', 'score': 13.0}, {'connected_gene': 'RNU6-710P', 'score': 0.39}, {'connected_gene': 'LOC105376220', 'score': 0.34}]
chr9 GH09I111526 111526200 111526400 0.61 [{'connected_gene': 'ZNF483', 'score': 0.77}, {'connected_gene': 'ENSG00000224644', 'score': 0.25}]
chr9 GH09I111524 111524581 111526144 1.86 [{'connected_gene': 'ZNF483', 'score': 556.29}, {'connected_gene': 'ENSG00000224644', 'score': 0.25}]
chr9 GH09I111457 111457841 111459130 0.49 [{'connected_gene': 'ECPAS', 'score': 12.58}, {'connected_gene': 'GNG10', 'score': 10.14}, {'connected_gene': 'ENSG00000224644', 'score': 9.88}, {'connected_gene': 'ZNF483', 'score': 6.68}, {'connected_gene': 'RNA5SP294', 'score': 0.25}]
chr9 GH09I111481 111481421 111485286 2.26 [{'connected_gene': 'ECPAS', 'score': 550.77}, {'connected_gene': 'PTGR1', 'score': 11.77}, {'connected_gene': 'ZNF483', 'score': 8.69}, {'connected_gene': 'RNA5SP294', 'score': 0.19}]
chr9 GH09I111572 111572826 111573985 0.66 [{'connected_gene': 'ENSG00000224644', 'score': 550.77}, {'connected_gene': 'PTGR1', 'score': 17.35}, {'connected_gene': 'ZNF483', 'score': 8.3}]
chr9 GH09I111527 111527373 111530710 0.54 [{'connected_gene': 'ENSG00000224644', 'score': 11.04}, {'connected_gene': 'ECPAS', 'score': 10.71}, {'connected_gene': 'ZNF483', 'score': 8.55}, {'connected_gene': 'PTGR1', 'score': 5.34}]