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
ENST00000417996 [[53183468, 53184142], [53184621, 53184656], [53184989, 53185210], [53185474, 53185600], [53186022, 53186187], [53186494, 53186590], [53186946, 53187007], [53187894, 53188115], [53189181, 53189901]] [[53183825, 53184142], [53184621, 53184656], [53184989, 53185210], [53185474, 53185600], [53186022, 53186187], [53186494, 53186590], [53186946, 53187007], [53187894, 53188115], [53189181, 53189826]]
ENST00000309505 [[53183469, 53184142], [53184621, 53184659], [53184989, 53185210], [53185474, 53185600], [53186022, 53186187], [53186494, 53186590], [53186946, 53187007], [53187894, 53188115], [53189181, 53189892]] [[53183825, 53184142], [53184621, 53184659], [53184989, 53185210], [53185474, 53185600], [53186022, 53186187], [53186494, 53186590], [53186946, 53187007], [53187894, 53188115], [53189181, 53189826]]
NM_057088 [[53183468, 53184142], [53184621, 53184656], [53184989, 53185210], [53185474, 53185600], [53186022, 53186187], [53186494, 53186590], [53186946, 53187007], [53187894, 53188115], [53189181, 53189892]] [[53183825, 53184142], [53184621, 53184656], [53184989, 53185210], [53185474, 53185600], [53186022, 53186187], [53186494, 53186590], [53186946, 53187007], [53187894, 53188115], [53189181, 53189826]]
Promoter
Chrom Start End Description
chr12 53189894 53189905 CAGE_peak_1_at_KRT3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I052815 52814106 52814165 0.5 [{'connected_gene': 'KRT4', 'score': 550.77}, {'connected_gene': 'KRT3', 'score': 0.44}]
chr12 GH12I052805 52805117 52805266 0.2 [{'connected_gene': 'KRT3', 'score': 550.77}, {'connected_gene': 'ENSG00000257404', 'score': 0.34}]
chr12 GH12I052796 52796107 52796166 0.5 [{'connected_gene': 'KRT3', 'score': 550.44}, {'connected_gene': 'ENSG00000257404', 'score': 0.39}]
chr12 GH12I052799 52799277 52799426 0.62 [{'connected_gene': 'KRT3', 'score': 5.28}, {'connected_gene': 'ENSG00000257404', 'score': 0.37}]
chr12 GH12I052869 52869799 52876851 1.78 [{'connected_gene': 'KRT2', 'score': 20.63}, {'connected_gene': 'PCBP2', 'score': 19.35}, {'connected_gene': 'EIF4B', 'score': 15.65}, {'connected_gene': 'AAAS', 'score': 15.53}, {'connected_gene': 'SP1', 'score': 14.86}, {'connected_gene': 'ZNF740', 'score': 14.44}, {'connected_gene': 'ATF7', 'score': 12.74}, {'connected_gene': 'KRT84', 'score': 12.12}, {'connected_gene': 'LOC100652999', 'score': 12.05}, {'connected_gene': 'PFDN5', 'score': 10.79}, {'connected_gene': 'CALCOCO1', 'score': 10.75}, {'connected_gene': 'KRT79', 'score': 10.51}, {'connected_gene': 'ENSG00000257808', 'score': 9.79}, {'connected_gene': 'KRT4', 'score': 7.83}, {'connected_gene': 'KRT8', 'score': 7.29}, {'connected_gene': 'KRT18', 'score': 6.57}, {'connected_gene': 'KRT78', 'score': 6.4}, {'connected_gene': 'KRT3', 'score': 5.12}, {'connected_gene': 'KRT6C', 'score': 3.8}, {'connected_gene': 'KRT76', 'score': 3.79}, {'connected_gene': 'KRT1', 'score': 3.04}, {'connected_gene': 'RARG', 'score': 2.73}, {'connected_gene': 'KRT6A', 'score': 1.41}, {'connected_gene': 'KRT5', 'score': 1.26}, {'connected_gene': 'RPL7P41', 'score': 0.39}]