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
ENST00000306960 [[62676150, 62678650], [62688689, 62689153]] [[62677189, 62678572]]
ENST00000543973 [[62677209, 62678650], [62688144, 62688236], [62688689, 62689279]] [[62677209, 62678572]]
ENST00000536524 [[62678169, 62678650], [62684345, 62684413]] [[62678169, 62678572]]
NM_000738 [[62676150, 62678650], [62688689, 62689012]] [[62677189, 62678572]]
Promoter
Chrom Start End Description
chr11 62688753 62688760 CAGE_peak_4_at_CHRM1_5end
chr11 62688765 62688781 CAGE_peak_3_at_CHRM1_5end
chr11 62688789 62688840 CAGE_peak_1_at_CHRM1_5end
chr11 62689046 62689100 CAGE_peak_2_at_CHRM1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I062925 62925749 62925858 0.43 [{'connected_gene': 'SLC22A6', 'score': 10.89}, {'connected_gene': 'CHRM1', 'score': 0.77}, {'connected_gene': 'GC11P062933', 'score': 0.44}, {'connected_gene': 'LOC105369333', 'score': 0.44}]
chr11 GH11I062923 62923835 62923938 0.49 [{'connected_gene': 'SLC22A6', 'score': 10.88}, {'connected_gene': 'LOC105369333', 'score': 0.77}, {'connected_gene': 'CHRM1', 'score': 0.77}, {'connected_gene': 'GC11P062933', 'score': 0.44}]
chr11 GH11I062922 62922046 62922535 0.89 [{'connected_gene': 'CHRM1', 'score': 550.77}, {'connected_gene': 'SLC22A6', 'score': 10.88}, {'connected_gene': 'LOC105369333', 'score': 0.77}, {'connected_gene': 'GC11P062933', 'score': 0.39}]
chr11 GH11I062927 62922779 62922917 0.48 [{'connected_gene': 'CHRM1', 'score': 550.77}, {'connected_gene': 'SLC22A6', 'score': 10.88}, {'connected_gene': 'LOC105369333', 'score': 0.77}, {'connected_gene': 'GC11P062933', 'score': 0.39}]
chr11 GH11I062926 62921849 62921998 0.91 [{'connected_gene': 'CHRM1', 'score': 550.77}, {'connected_gene': 'LOC105369333', 'score': 0.77}, {'connected_gene': 'GC11P062933', 'score': 0.39}]
chr11 GH11I062921 62921549 62921698 1.29 [{'connected_gene': 'LOC105369333', 'score': 550.77}, {'connected_gene': 'CHRM1', 'score': 550.77}]
chr11 GH11I062924 62921326 62921546 1.26 [{'connected_gene': 'LOC105369333', 'score': 550.77}, {'connected_gene': 'CHRM1', 'score': 550.77}]
chr11 GH11I062908 62908754 62910094 1.17 [{'connected_gene': 'ENSG00000257002', 'score': 550.77}, {'connected_gene': 'BSCL2', 'score': 11.1}, {'connected_gene': 'CHRM1', 'score': 0.39}, {'connected_gene': 'GC11P062886', 'score': 0.34}]