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
ENST00000540085 [[7882010, 7882336], [7883392, 7883508], [7890024, 7890170], [7894016, 7894127], [7899913, 7900074], [7901708, 7902069]] [[7882191, 7882336], [7883392, 7883508], [7890024, 7890170], [7894016, 7894127], [7899913, 7899944]]
ENST00000542353 [[7882010, 7882336], [7883392, 7883508], [7890024, 7890170], [7894016, 7894127], [7898926, 7899019], [7899913, 7900074], [7901708, 7902069]] [[7882191, 7882336], [7883392, 7883508], [7890024, 7890170], [7894016, 7894127], [7898926, 7899019], [7899913, 7899944]]
ENST00000354629 [[7882010, 7882336], [7883392, 7883508], [7890024, 7890170], [7894016, 7894127], [7899913, 7900077], [7901708, 7901795], [7904025, 7904201]] [[7882191, 7882336], [7883392, 7883508], [7890024, 7890170], [7894016, 7894127], [7899913, 7899944]]
ENST00000360345 [[7882037, 7882336], [7883392, 7883508], [7890024, 7890170], [7894016, 7894127], [7898926, 7899019], [7899913, 7900118]] [[7882191, 7882336], [7883392, 7883508], [7890024, 7890170], [7894016, 7894127], [7898926, 7899019], [7899913, 7899944]]
ENST00000537530 [[7882038, 7882336], [7883376, 7883508], [7890024, 7890171]] [[7883388, 7883508], [7890024, 7890171]]
ENST00000543765 [[7882299, 7882336], [7883392, 7883508], [7890024, 7890170], [7898926, 7899019], [7899913, 7899935]] [[7882299, 7882336], [7883392, 7883508], [7890024, 7890170], [7898926, 7899019], [7899913, 7899935]]
NM_130441 [[7882010, 7882336], [7883392, 7883508], [7890024, 7890170], [7894016, 7894127], [7898926, 7899019], [7899913, 7900074], [7901708, 7902069]] [[7882191, 7882336], [7883392, 7883508], [7890024, 7890170], [7894016, 7894127], [7898926, 7899019], [7899913, 7899944]]
NM_203503 [[7882010, 7882336], [7883392, 7883508], [7890024, 7890170], [7894016, 7894127], [7899913, 7900074], [7901708, 7902069]] [[7882191, 7882336], [7883392, 7883508], [7890024, 7890170], [7894016, 7894127], [7899913, 7899944]]
Promoter
Chrom Start End Description
chr12 7899944 7899955 CAGE_peak_3_at_CLEC4C_5end
chr12 7899958 7899984 CAGE_peak_1_at_CLEC4C_5end
chr12 7902131 7902142 CAGE_peak_4_at_CLEC4C_5end
chr12 7904213 7904218 CAGE_peak_2_at_CLEC4C_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I007757 7757816 7759307 0.51 [{'connected_gene': 'CLEC4C', 'score': 9.81}, {'connected_gene': 'NANOGNB', 'score': 0.44}]
chr12 GH12I007749 7749531 7749590 0.5 [{'connected_gene': 'CLEC4C', 'score': 550.77}, {'connected_gene': 'ENSG00000201549', 'score': 12.34}, {'connected_gene': 'DPPA3', 'score': 12.19}, {'connected_gene': 'NECAP1', 'score': 12.1}, {'connected_gene': 'GC12M007725', 'score': 0.34}]
chr12 GH12I007747 7747364 7747423 0.5 [{'connected_gene': 'CLEC4C', 'score': 550.77}, {'connected_gene': 'ENSG00000201549', 'score': 13.32}, {'connected_gene': 'NECAP1', 'score': 13.1}, {'connected_gene': 'GDF3', 'score': 11.59}, {'connected_gene': 'DPPA3', 'score': 11.56}, {'connected_gene': 'GC12M007725', 'score': 0.34}]