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
ENST00000319420 [[26618734, 26621204], [26624779, 26625169]] [[26620650, 26621204], [26624779, 26625113]]
NM_001007538 [[26618734, 26621204], [26624779, 26625198]] [[26620650, 26621204], [26624779, 26625113]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I026011 26011879 26013313 0.51 [{'connected_gene': 'ATP8A2', 'score': 19.93}, {'connected_gene': 'LINC00415', 'score': 11.25}, {'connected_gene': 'SHISA2', 'score': 11.24}, {'connected_gene': 'PIR56473', 'score': 0.31}]
chr13 GH13I025743 25743144 25744558 0.43 [{'connected_gene': 'SHISA2', 'score': 4.4}, {'connected_gene': 'PIR51943', 'score': 0.31}, {'connected_gene': 'PIR39066', 'score': 0.13}, {'connected_gene': 'ATP8A2', 'score': 0.05}]
chr13 GH13I026048 26048801 26053130 1.98 [{'connected_gene': 'SHISA2', 'score': 561.57}, {'connected_gene': 'PABPC3', 'score': 5.03}, {'connected_gene': 'LINC00415', 'score': 0.77}, {'connected_gene': 'PIR56473', 'score': 0.21}]
chr13 GH13I025544 25544596 25544932 0.22 [{'connected_gene': 'SHISA2', 'score': 9.62}, {'connected_gene': 'LINC00415', 'score': 9.62}, {'connected_gene': 'ATP8A2', 'score': 3.69}, {'connected_gene': 'AMER2', 'score': 3.57}, {'connected_gene': 'RNU6-78P', 'score': 0.31}, {'connected_gene': 'PIR39066', 'score': 0.19}]
chr13 GH13I025776 25776203 25776352 0.2 [{'connected_gene': 'SHISA2', 'score': 10.16}, {'connected_gene': 'LINC00415', 'score': 10.16}, {'connected_gene': 'PIR51943', 'score': 0.77}, {'connected_gene': 'ENSG00000180803', 'score': 0.17}, {'connected_gene': 'ATP8A2', 'score': 0.05}]
chr13 GH13I025881 25881100 25882894 1.08 [{'connected_gene': 'SHISA2', 'score': 10.54}, {'connected_gene': 'LINC00415', 'score': 10.54}, {'connected_gene': 'CDK8', 'score': 4.43}, {'connected_gene': 'PIR50437', 'score': 0.37}, {'connected_gene': 'GC13P025866', 'score': 0.37}, {'connected_gene': 'RN7SL741P', 'score': 0.21}, {'connected_gene': 'ATP8A2', 'score': 0.03}]
chr13 GH13I026074 26074571 26075152 0.38 [{'connected_gene': 'SHISA2', 'score': 17.09}, {'connected_gene': 'LINC00415', 'score': 11.63}, {'connected_gene': 'PRUNEP1', 'score': 0.26}]
chr13 GH13I026062 26062943 26063092 0.54 [{'connected_gene': 'SHISA2', 'score': 0.77}, {'connected_gene': 'PRUNEP1', 'score': 0.22}]
chr13 GH13I026061 26061547 26062904 0.57 [{'connected_gene': 'SHISA2', 'score': 13.46}, {'connected_gene': 'PRUNEP1', 'score': 0.22}]
chr13 GH13I025990 25990963 25991092 0.2 [{'connected_gene': 'LINC00415', 'score': 11.25}, {'connected_gene': 'SHISA2', 'score': 11.25}, {'connected_gene': 'PIR56473', 'score': 0.77}, {'connected_gene': 'ATP8A2', 'score': 0.03}]
chr13 GH13I025836 25836275 25837784 0.54 [{'connected_gene': 'LINC00415', 'score': 11.04}, {'connected_gene': 'SHISA2', 'score': 11.04}, {'connected_gene': 'ENSG00000180803', 'score': 0.31}, {'connected_gene': 'PIR51943', 'score': 0.2}, {'connected_gene': 'ATP8A2', 'score': 0.04}]
chr13 GH13I025991 25990260 25990593 0.34 [{'connected_gene': 'LINC00415', 'score': 11.25}, {'connected_gene': 'SHISA2', 'score': 11.25}, {'connected_gene': 'PIR56473', 'score': 0.77}, {'connected_gene': 'ATP8A2', 'score': 0.03}]
chr13 GH13I025927 25927460 25929315 0.43 [{'connected_gene': 'LINC00415', 'score': 10.95}, {'connected_gene': 'SHISA2', 'score': 10.95}, {'connected_gene': 'RN7SL741P', 'score': 0.37}, {'connected_gene': 'PIR50437', 'score': 0.21}, {'connected_gene': 'GC13P025866', 'score': 0.21}, {'connected_gene': 'ATP8A2', 'score': 0.03}]
chr13 GH13I025574 25574563 25574712 0.63 [{'connected_gene': 'LINC00415', 'score': 11.27}, {'connected_gene': 'SHISA2', 'score': 11.27}, {'connected_gene': 'PIR39066', 'score': 0.26}, {'connected_gene': 'RNU6-78P', 'score': 0.22}, {'connected_gene': 'ATP8A2', 'score': 0.08}]
chr13 GH13I026049 26048401 26048600 0.2 [{'connected_gene': 'LINC00415', 'score': 0.77}, {'connected_gene': 'SHISA2', 'score': 0.39}, {'connected_gene': 'PIR56473', 'score': 0.21}]
chr13 GH13I026030 26030423 26030572 0.2 [{'connected_gene': 'LINC00415', 'score': 11.48}, {'connected_gene': 'SHISA2', 'score': 11.45}, {'connected_gene': 'PIR56473', 'score': 0.26}]
chr13 GH13I025988 25988823 25988952 0.59 [{'connected_gene': 'PIR56473', 'score': 550.77}, {'connected_gene': 'LINC00415', 'score': 11.25}, {'connected_gene': 'SHISA2', 'score': 11.24}, {'connected_gene': 'ATP8A2', 'score': 0.03}]