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
ENST00000552864 [[81186298, 81191505], [81205243, 81205462], [81239508, 81239718], [81242029, 81242101], [81283029, 81283148], [81331419, 81331704]] [[81205243, 81205462], [81239508, 81239718], [81242029, 81242101], [81283029, 81283148], [81331419, 81331501]]
ENST00000261203 [[81191353, 81191505], [81205243, 81205462], [81239508, 81239718], [81241877, 81241954], [81242029, 81242101], [81283029, 81283148], [81331419, 81331559]] [[81241921, 81241954], [81242029, 81242101], [81283029, 81283148], [81331419, 81331501]]
ENST00000549417 [[81235467, 81235907], [81239508, 81239718], [81242029, 81242101], [81283029, 81283148], [81331419, 81331483]] [[81235829, 81235907], [81239508, 81239718], [81242029, 81242101], [81283029, 81283148], [81331419, 81331483]]
ENST00000552093 [[81239342, 81239718], [81242029, 81242101], [81283029, 81283127]] [[81239496, 81239718], [81242029, 81242101], [81283029, 81283127]]
NR_136888 [[81186298, 81191505], [81205243, 81205462], [81239508, 81239718], [81241877, 81241954], [81242029, 81242101], [81283029, 81283148], [81331419, 81331694]] None
NM_004664 [[81186298, 81191505], [81205243, 81205462], [81239508, 81239718], [81242029, 81242101], [81283029, 81283148], [81331419, 81331694]] [[81205243, 81205462], [81239508, 81239718], [81242029, 81242101], [81283029, 81283148], [81331419, 81331501]]
NR_136887 [[81186298, 81191505], [81205243, 81205462], [81239508, 81239718], [81241877, 81241954], [81242029, 81242101], [81331419, 81331694]] None
NM_001324423 [[81186298, 81191505], [81205243, 81205462], [81239508, 81239718], [81242029, 81242101], [81331419, 81331694]] [[81205243, 81205462], [81239508, 81239718], [81242029, 81242089]]
Promoter
Chrom Start End Description
chr12 81331460 81331505 CAGE_peak_1_at_LIN7A_5end
chr12 81331512 81331533 CAGE_peak_3_at_LIN7A_5end
chr12 81331647 81331658 CAGE_peak_6_at_LIN7A_5end
chr12 81331675 81331696 CAGE_peak_4_at_LIN7A_5end
chr12 81331697 81331733 CAGE_peak_2_at_LIN7A_5end
chr12 81331735 81331748 CAGE_peak_5_at_LIN7A_5end
chr12 81332008 81332022 CAGE_peak_7_at_LIN7A_5end
chr12 81332033 81332044 CAGE_peak_8_at_LIN7A_5end
chr12 81332055 81332060 CAGE_peak_9_at_LIN7A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I080936 80936029 80940311 1.94 [{'connected_gene': 'LIN7A', 'score': 556.98}, {'connected_gene': 'ACSS3', 'score': 550.77}, {'connected_gene': 'LOC105369869', 'score': 0.77}, {'connected_gene': 'ENSG00000258026', 'score': 0.09}]
chr12 GH12I080893 80893622 80893771 0.2 [{'connected_gene': 'LIN7A', 'score': 11.28}, {'connected_gene': 'GC12M080862', 'score': 0.29}, {'connected_gene': 'LOC100420442', 'score': 0.29}, {'connected_gene': 'MIR618', 'score': 0.26}]
chr12 GH12I080867 80867327 80869535 0.71 [{'connected_gene': 'LIN7A', 'score': 10.57}, {'connected_gene': 'GC12M080862', 'score': 0.44}, {'connected_gene': 'LOC100420442', 'score': 0.44}, {'connected_gene': 'MIR618', 'score': 0.2}]
chr12 GH12I080877 80877864 80877918 0.36 [{'connected_gene': 'LIN7A', 'score': 2.68}, {'connected_gene': 'GC12M080862', 'score': 0.37}, {'connected_gene': 'LOC100420442', 'score': 0.37}, {'connected_gene': 'MIR618', 'score': 0.22}]
chr12 GH12I081095 81095062 81095211 0.31 [{'connected_gene': 'ACSS3', 'score': 11.45}, {'connected_gene': 'ENSG00000258026', 'score': 0.29}, {'connected_gene': 'LIN7A', 'score': 0.1}]
chr12 GH12I081080 81080426 81081200 0.77 [{'connected_gene': 'ACSS3', 'score': 19.8}, {'connected_gene': 'ENSG00000258026', 'score': 0.25}, {'connected_gene': 'LIN7A', 'score': 0.11}]
chr12 GH12I081076 81076942 81080316 1.93 [{'connected_gene': 'ACSS3', 'score': 569.59}, {'connected_gene': 'ENSG00000258026', 'score': 0.25}, {'connected_gene': 'LIN7A', 'score': 0.11}]
chr12 GH12I080925 80925342 80925491 0.31 [{'connected_gene': 'MIR618', 'score': 0.39}, {'connected_gene': 'LIN7A', 'score': 0.39}, {'connected_gene': 'GC12M080862', 'score': 0.21}, {'connected_gene': 'LOC100420442', 'score': 0.21}]
chr12 GH12I080837 80837462 80837611 0.62 [{'connected_gene': 'MIR617', 'score': 0.77}, {'connected_gene': 'GC12P080845', 'score': 0.44}, {'connected_gene': 'LIN7A', 'score': 0.15}]
chr12 GH12I080821 80821498 80822229 0.46 [{'connected_gene': 'MIR617', 'score': 0.39}, {'connected_gene': 'GC12M080765', 'score': 0.37}, {'connected_gene': 'LIN7A', 'score': 0.13}]
chr12 GH12I081086 81086381 81086883 0.89 [{'connected_gene': 'ENSG00000258026', 'score': 0.28}, {'connected_gene': 'LIN7A', 'score': 0.11}, {'connected_gene': 'ACSS3', 'score': 0.1}]
chr12 GH12I081096 81095942 81096091 0.2 [{'connected_gene': 'ENSG00000258026', 'score': 0.31}, {'connected_gene': 'ACSS3', 'score': 0.1}, {'connected_gene': 'LIN7A', 'score': 0.1}]
chr12 GH12I080838 80838202 80838351 0.31 [{'connected_gene': 'GC12P080845', 'score': 0.44}, {'connected_gene': 'MIR617', 'score': 0.44}, {'connected_gene': 'LIN7A', 'score': 0.15}]
chr12 GH12I080847 80847062 80847211 0.43 [{'connected_gene': 'GC12P080845', 'score': 0.77}, {'connected_gene': 'GC12M080862', 'score': 0.39}, {'connected_gene': 'LOC100420442', 'score': 0.39}, {'connected_gene': 'LIN7A', 'score': 0.16}]