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
ENST00000377942 [[53418108, 53419068], [53419559, 53419767], [53419940, 53422775]] [[53418694, 53419068], [53419559, 53419767], [53419940, 53422571]]
ENST00000338862 [[53418115, 53419068], [53419559, 53419767], [53420231, 53422640]] [[53418694, 53419068], [53419559, 53419767], [53420231, 53422571]]
NM_002590 [[53418108, 53419068], [53419559, 53419767], [53419940, 53422775]] [[53418694, 53419068], [53419559, 53419767], [53419940, 53422571]]
NM_032949 [[53418108, 53419068], [53419559, 53419767], [53420231, 53422775]] [[53418694, 53419068], [53419559, 53419767], [53420231, 53422571]]
Promoter
Chrom Start End Description
chr13 53422767 53422780 CAGE_peak_1_at_PCDH8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I052779 52779137 52779245 0.22 [{'connected_gene': 'PCDH8', 'score': 3.08}, {'connected_gene': 'HNRNPA1L2', 'score': 1.49}, {'connected_gene': 'LOC105370209', 'score': 0.39}, {'connected_gene': 'MIR759', 'score': 0.29}]
chr13 GH13I052845 52845346 52845475 0.46 [{'connected_gene': 'PCDH8', 'score': 0.77}, {'connected_gene': 'PPIAP26', 'score': 0.34}, {'connected_gene': 'GC13M052802', 'score': 0.2}]
chr13 GH13I052847 52847106 52847175 0.57 [{'connected_gene': 'PCDH8', 'score': 550.77}, {'connected_gene': 'PPIAP26', 'score': 0.31}, {'connected_gene': 'GC13M052802', 'score': 0.21}]
chr13 GH13I052896 52896759 52897675 0.54 [{'connected_gene': 'PCDH8', 'score': 11.23}, {'connected_gene': 'PPIAP26', 'score': 5.09}, {'connected_gene': 'GC13M052802', 'score': 0.39}]
chr13 GH13I053336 53336824 53336915 0.22 [{'connected_gene': 'PCDH8', 'score': 3.56}, {'connected_gene': 'ENSG00000273919', 'score': 0.44}, {'connected_gene': 'RN7SL618P', 'score': 0.18}]
chr13 GH13I052848 52848606 52848755 1.04 [{'connected_gene': 'PCDH8', 'score': 550.77}, {'connected_gene': 'GC13M052802', 'score': 0.21}]
chr13 GH13I052850 52850060 52852278 1.14 [{'connected_gene': 'PCDH8', 'score': 0.77}, {'connected_gene': 'GC13M052802', 'score': 0.22}]
chr13 GH13I052879 52879906 52881353 0.49 [{'connected_gene': 'MIR759', 'score': 10.62}, {'connected_gene': 'CKAP2', 'score': 4.04}, {'connected_gene': 'GC13M052802', 'score': 0.29}, {'connected_gene': 'PCDH8', 'score': 0.29}]
chr13 GH13I052906 52906152 52906818 0.2 [{'connected_gene': 'GC13M052802', 'score': 0.77}, {'connected_gene': 'PCDH8', 'score': 0.22}]