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
ENST00000260061 [[76368567, 76372552], [76376914, 76377002], [76381657, 76381791]] [[76370647, 76372552], [76376914, 76376998]]
ENST00000407242 [[76368568, 76372552], [76376914, 76377002], [76380805, 76381044]] [[76370647, 76372552], [76376914, 76376998]]
ENST00000404995 [[76368570, 76369078], [76370626, 76372552], [76376914, 76377002], [76381657, 76381791]] [[76370647, 76372552], [76376914, 76376998]]
ENST00000464145 [[76368613, 76369078], [76376914, 76377015]] None
ENST00000421973 [[76372078, 76372552], [76376914, 76377002], [76380805, 76381044]] [[76372078, 76372552], [76376914, 76376998]]
NM_005512 [[76368567, 76372552], [76376914, 76377002], [76380805, 76381044]] [[76370647, 76372552], [76376914, 76376998]]
NM_001128922 [[76368567, 76372552], [76376914, 76377002], [76381657, 76381791]] [[76370647, 76372552], [76376914, 76376998]]
Promoter
Chrom Start End Description
chr11 76380944 76380989 CAGE_peak_2_at_LRRC32_5end
chr11 76380996 76381024 CAGE_peak_3_at_LRRC32_5end
chr11 76381029 76381041 CAGE_peak_6_at_LRRC32_5end
chr11 76381054 76381072 CAGE_peak_5_at_LRRC32_5end
chr11 76381695 76381719 CAGE_peak_4_at_LRRC32_5end
chr11 76381781 76381798 CAGE_peak_1_at_LRRC32_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I076558 76558983 76561101 0.72 [{'connected_gene': 'LRRC32', 'score': 11.26}, {'connected_gene': 'ENSG00000254975', 'score': 11.25}, {'connected_gene': 'WNT11', 'score': 4.57}, {'connected_gene': 'PIR57504', 'score': 0.34}, {'connected_gene': 'EMSY', 'score': 0.13}]
chr11 GH11I076553 76553552 76554703 0.38 [{'connected_gene': 'LRRC32', 'score': 11.65}, {'connected_gene': 'ENSG00000254975', 'score': 11.65}, {'connected_gene': 'ENSG00000254810', 'score': 11.49}, {'connected_gene': 'LOC107984360', 'score': 11.49}, {'connected_gene': 'ENSG00000254632', 'score': 10.03}, {'connected_gene': 'PIR57504', 'score': 0.31}, {'connected_gene': 'EMSY', 'score': 0.14}]
chr11 GH11I076598 76598600 76599642 0.79 [{'connected_gene': 'LRRC32', 'score': 12.69}, {'connected_gene': 'ENSG00000254975', 'score': 12.68}, {'connected_gene': 'ENSG00000254810', 'score': 12.11}, {'connected_gene': 'LOC107984360', 'score': 12.11}, {'connected_gene': 'ACER3', 'score': 8.85}, {'connected_gene': 'ENSG00000254755', 'score': 0.44}, {'connected_gene': 'ENSG00000255479', 'score': 0.31}]
chr11 GH11I076614 76614401 76618110 0.94 [{'connected_gene': 'LRRC32', 'score': 12.84}, {'connected_gene': 'ENSG00000254975', 'score': 12.83}, {'connected_gene': 'ENSG00000254810', 'score': 11.92}, {'connected_gene': 'LOC107984360', 'score': 11.92}, {'connected_gene': 'GVQW3', 'score': 4.48}, {'connected_gene': 'ENSG00000255363', 'score': 0.39}, {'connected_gene': 'LOC101928813', 'score': 0.39}, {'connected_gene': 'ENSG00000255479', 'score': 0.39}, {'connected_gene': 'ENSG00000254755', 'score': 0.31}]
chr11 GH11I076601 76601427 76605926 1.08 [{'connected_gene': 'LRRC32', 'score': 12.7}, {'connected_gene': 'ENSG00000254975', 'score': 12.69}, {'connected_gene': 'ENSG00000254810', 'score': 12.12}, {'connected_gene': 'LOC107984360', 'score': 12.12}, {'connected_gene': 'GVQW3', 'score': 4.52}, {'connected_gene': 'ENSG00000254755', 'score': 0.39}, {'connected_gene': 'ENSG00000255479', 'score': 0.34}]
chr11 GH11I076648 76648731 76650482 0.58 [{'connected_gene': 'LRRC32', 'score': 13.14}, {'connected_gene': 'ENSG00000254975', 'score': 13.12}, {'connected_gene': 'ENSG00000254632', 'score': 9.89}, {'connected_gene': 'LOC107984360', 'score': 6.7}, {'connected_gene': 'ENSG00000254810', 'score': 0.44}, {'connected_gene': 'ENSG00000255363', 'score': 0.37}]
chr11 GH11I076605 76605937 76606907 0.94 [{'connected_gene': 'LRRC32', 'score': 12.7}, {'connected_gene': 'ENSG00000254975', 'score': 12.7}, {'connected_gene': 'ENSG00000254810', 'score': 12.12}, {'connected_gene': 'LOC107984360', 'score': 12.12}, {'connected_gene': 'ENSG00000254755', 'score': 0.37}, {'connected_gene': 'ENSG00000255479', 'score': 0.34}]
chr11 GH11I076669 76668746 76673914 2.29 [{'connected_gene': 'LRRC32', 'score': 550.77}, {'connected_gene': 'LOC107984360', 'score': 8.79}, {'connected_gene': 'ENSG00000254975', 'score': 0.77}]
chr11 GH11I076668 76668200 76668401 0.88 [{'connected_gene': 'LRRC32', 'score': 0.77}, {'connected_gene': 'LOC107984360', 'score': 0.39}]
chr11 GH11I076664 76664361 76667495 1.45 [{'connected_gene': 'LOC107984360', 'score': 7.69}, {'connected_gene': 'LRRC32', 'score': 1.88}]
chr11 GH11I076652 76652902 76657912 1.05 [{'connected_gene': 'LOC107984360', 'score': 588.89}, {'connected_gene': 'ENSG00000254810', 'score': 558.79}, {'connected_gene': 'ENSG00000255363', 'score': 10.95}, {'connected_gene': 'CLNS1A', 'score': 4.67}, {'connected_gene': 'LRRC32', 'score': 0.37}]
chr11 GH11I076674 76674697 76674826 0.57 [{'connected_gene': 'ENSG00000254975', 'score': 550.77}, {'connected_gene': 'LRRC32', 'score': 0.77}]
chr11 GH11I076609 76609588 76611866 0.92 [{'connected_gene': 'ENSG00000254810', 'score': 12.54}, {'connected_gene': 'LOC107984360', 'score': 12.54}, {'connected_gene': 'LRRC32', 'score': 12.48}, {'connected_gene': 'ENSG00000254975', 'score': 12.48}, {'connected_gene': 'ENSG00000254632', 'score': 10.43}, {'connected_gene': 'ENSG00000255363', 'score': 0.37}, {'connected_gene': 'LOC101928813', 'score': 0.37}, {'connected_gene': 'ENSG00000254755', 'score': 0.37}, {'connected_gene': 'ENSG00000255479', 'score': 0.37}]
chr11 GH11I076626 76626800 76627801 0.98 [{'connected_gene': 'ENSG00000255479', 'score': 550.77}, {'connected_gene': 'ENSG00000254810', 'score': 13.8}, {'connected_gene': 'LOC107984360', 'score': 13.8}, {'connected_gene': 'LRRC32', 'score': 13.3}, {'connected_gene': 'ENSG00000254975', 'score': 13.29}, {'connected_gene': 'ENSG00000255363', 'score': 0.77}, {'connected_gene': 'LOC101928813', 'score': 0.77}]