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
ENST00000259803 [[52991761, 52993744], [52995600, 52995729], [52996804, 52996917], [52998869, 52999122], [53010355, 53010566], [53013551, 53013627]] [[52993003, 52993744], [52995600, 52995729], [52996804, 52996917], [52998869, 52999122], [53010355, 53010430]]
NM_003643 [[52991758, 52993744], [52995600, 52995729], [52996804, 52996917], [52998869, 52999122], [53010355, 53010566], [53013551, 53013624]] [[52993003, 52993744], [52995600, 52995729], [52996804, 52996917], [52998869, 52999122], [53010355, 53010430]]
Promoter
Chrom Start End Description
chr6 53013605 53013616 CAGE_peak_2_at_GCM1_5end
chr6 53013620 53013644 CAGE_peak_1_at_GCM1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I053119 53119044 53120832 1.1 [{'connected_gene': 'GCM1', 'score': 12.26}, {'connected_gene': 'RNU6-464P', 'score': 12.24}, {'connected_gene': 'ENSG00000218713', 'score': 11.31}, {'connected_gene': 'ICK', 'score': 5.2}, {'connected_gene': 'ENSG00000261745', 'score': 0.44}, {'connected_gene': 'PIR53393', 'score': 0.31}]
chr6 GH06I053148 53148820 53148879 0.73 [{'connected_gene': 'GCM1', 'score': 550.77}, {'connected_gene': 'GC06M053154', 'score': 0.44}, {'connected_gene': 'RNU6-464P', 'score': 0.44}]
chr6 GH06I053147 53147921 53147980 0.5 [{'connected_gene': 'GCM1', 'score': 550.77}, {'connected_gene': 'ENSG00000261745', 'score': 0.34}]
chr6 GH06I053213 53213893 53218333 0.43 [{'connected_gene': 'ENSG00000218713', 'score': 19.76}, {'connected_gene': 'GCM1', 'score': 12.87}, {'connected_gene': 'GC06P053222', 'score': 0.77}, {'connected_gene': 'GC06P053224', 'score': 0.77}, {'connected_gene': 'PIR36996', 'score': 0.77}]
chr6 GH06I053134 53134879 53135152 0.93 [{'connected_gene': 'ENSG00000218713', 'score': 11.09}, {'connected_gene': 'ENSG00000261745', 'score': 0.44}, {'connected_gene': 'GCM1', 'score': 0.39}]
chr6 GH06I053218 53218840 53221401 0.2 [{'connected_gene': 'GC06P053222', 'score': 550.77}, {'connected_gene': 'GC06P053224', 'score': 550.77}, {'connected_gene': 'RNU1-136P', 'score': 550.77}, {'connected_gene': 'ENSG00000218713', 'score': 16.03}, {'connected_gene': 'GCM1', 'score': 12.24}, {'connected_gene': 'GC06M053235', 'score': 0.37}]