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
ENST00000347159 [[80912058, 80912186], [80915517, 80915578], [80916869, 80916939], [80919650, 80919856], [80921229, 80921402], [80923329, 80923499], [80932591, 80932720], [80943896, 80944370]] [[80912126, 80912186], [80915517, 80915578], [80916869, 80916939], [80919650, 80919856], [80921229, 80921402], [80923329, 80923499], [80932591, 80932720], [80943896, 80944002]]
ENST00000376588 [[80912058, 80912186], [80915517, 80915578], [80916869, 80916939], [80919650, 80919856], [80921229, 80921402], [80923329, 80923499], [80932591, 80932720], [80942966, 80943104], [80943896, 80945009]] [[80912126, 80912186], [80915517, 80915578], [80916869, 80916939], [80919650, 80919856], [80921229, 80921402], [80923329, 80923499], [80932591, 80932720], [80942966, 80943104], [80943896, 80944002]]
NM_021154 [[80911990, 80912186], [80915517, 80915578], [80916869, 80916939], [80919650, 80919856], [80921229, 80921402], [80923329, 80923499], [80932591, 80932720], [80943896, 80945009]] [[80912126, 80912186], [80915517, 80915578], [80916869, 80916939], [80919650, 80919856], [80921229, 80921402], [80923329, 80923499], [80932591, 80932720], [80943896, 80944002]]
NM_058179 [[80911990, 80912186], [80915517, 80915578], [80916869, 80916939], [80919650, 80919856], [80921229, 80921402], [80923329, 80923499], [80932591, 80932720], [80942966, 80943104], [80943896, 80945009]] [[80912126, 80912186], [80915517, 80915578], [80916869, 80916939], [80919650, 80919856], [80921229, 80921402], [80923329, 80923499], [80932591, 80932720], [80942966, 80943104], [80943896, 80944002]]
Promoter
Chrom Start End Description
chr9 80912034 80912050 CAGE_peak_1_at_PSAT1_5end
chr9 80912066 80912081 CAGE_peak_2_at_PSAT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I078200 78200813 78201873 0.8 [{'connected_gene': 'CEP78', 'score': 17.45}, {'connected_gene': 'PSAT1', 'score': 6.12}, {'connected_gene': 'ENSG00000234819', 'score': 0.37}, {'connected_gene': 'RPL21P84', 'score': 0.34}]
chr9 GH09I078187 78187858 78188387 0.44 [{'connected_gene': 'CEP78', 'score': 10.61}, {'connected_gene': 'PSAT1', 'score': 6.45}, {'connected_gene': 'RPL21P84', 'score': 0.44}, {'connected_gene': 'ENSG00000234819', 'score': 0.29}]
chr9 GH09I078210 78210519 78212185 0.91 [{'connected_gene': 'CEP78', 'score': 16.92}, {'connected_gene': 'PSAT1', 'score': 6.25}, {'connected_gene': 'ENSG00000234819', 'score': 0.44}, {'connected_gene': 'RPL21P84', 'score': 0.29}]
chr9 GH09I078239 78239605 78239754 0.56 [{'connected_gene': 'CEP78', 'score': 7.68}, {'connected_gene': 'PSAT1', 'score': 5.05}]
chr9 GH09I078277 78277839 78279427 0.69 [{'connected_gene': 'CEP78', 'score': 23.53}, {'connected_gene': 'PSAT1', 'score': 0.37}]
chr9 GH09I078293 78293201 78293400 0.56 [{'connected_gene': 'CEP78', 'score': 11.01}, {'connected_gene': 'PSAT1', 'score': 0.77}]
chr9 GH09I078280 78280434 78282423 0.77 [{'connected_gene': 'CEP78', 'score': 11.55}, {'connected_gene': 'PSAT1', 'score': 0.37}]
chr9 GH09I078237 78237645 78239378 0.49 [{'connected_gene': 'CEP78', 'score': 13.62}, {'connected_gene': 'GNAQ', 'score': 4.8}, {'connected_gene': 'PSAT1', 'score': 0.22}]
chr9 GH09I078325 78325076 78326078 0.74 [{'connected_gene': 'PSAT1', 'score': 5.36}, {'connected_gene': 'GNA14', 'score': 4.9}, {'connected_gene': 'GC09M078379', 'score': 0.21}]
chr9 GH09I078294 78294755 78298802 2.28 [{'connected_gene': 'PSAT1', 'score': 558.86}, {'connected_gene': 'CEP78', 'score': 15.26}]
chr9 GH09I078406 78406755 78407196 0.87 [{'connected_gene': 'PSAT1', 'score': 4.3}, {'connected_gene': 'GC09M078379', 'score': 0.34}, {'connected_gene': 'GC09P078450', 'score': 0.26}]
chr9 GH09I078369 78369745 78369894 0.54 [{'connected_gene': 'GC09M078379', 'score': 0.37}, {'connected_gene': 'PSAT1', 'score': 0.19}]
chr9 GH09I078382 78382726 78383697 0.74 [{'connected_gene': 'GC09M078379', 'score': 0.77}, {'connected_gene': 'PSAT1', 'score': 0.17}]

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