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
ENST00000537871 [[63304280, 63304349], [63312092, 63312361], [63313620, 63313934]] None
ENST00000439013 [[63304287, 63304349], [63306987, 63307096], [63312092, 63312859]] [[63304340, 63304349], [63306987, 63307096], [63312092, 63312445]]
ENST00000255688 [[63304292, 63304349], [63306987, 63307096], [63312092, 63312361], [63313620, 63313934]] [[63304340, 63304349], [63306987, 63307096], [63312092, 63312361], [63313620, 63313728]]
ENST00000544107 [[63304316, 63304349], [63312071, 63312361], [63313620, 63313797]] None
ENST00000354445 [[63305867, 63305886], [63306997, 63307096], [63312092, 63312361], [63313620, 63313929]] [[63305867, 63305886], [63306997, 63307096], [63312092, 63312361], [63313620, 63313728]]
NM_004585 [[63304272, 63304349], [63306987, 63307096], [63312092, 63312361], [63313620, 63313930]] [[63304340, 63304349], [63306987, 63307096], [63312092, 63312361], [63313620, 63313728]]
Promoter
Chrom Start End Description
chr11 63304273 63304292 CAGE_peak_2_at_RARRES3_5end
chr11 63304309 63304325 CAGE_peak_1_at_RARRES3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I063504 63504801 63508432 1.74 [{'connected_gene': 'LGALS12', 'score': 563.23}, {'connected_gene': 'RARRES3', 'score': 11.95}, {'connected_gene': 'ENSG00000203520', 'score': 11.66}, {'connected_gene': 'PLA2G16', 'score': 11.66}, {'connected_gene': 'ENSG00000256789', 'score': 10.79}, {'connected_gene': 'ATL3', 'score': 10.16}, {'connected_gene': 'TMSB4XP5', 'score': 0.39}]
chr11 GH11I063505 63504401 63504788 0.78 [{'connected_gene': 'LGALS12', 'score': 550.77}, {'connected_gene': 'RARRES3', 'score': 11.95}, {'connected_gene': 'PLA2G16', 'score': 11.66}, {'connected_gene': 'ENSG00000203520', 'score': 11.66}, {'connected_gene': 'ENSG00000256789', 'score': 10.79}, {'connected_gene': 'ATL3', 'score': 10.16}, {'connected_gene': 'HRASLS5', 'score': 0.39}]
chr11 GH11I063530 63530802 63539234 2.7 [{'connected_gene': 'RARRES3', 'score': 555.19}, {'connected_gene': 'CSKMT', 'score': 15.23}, {'connected_gene': 'GANAB', 'score': 12.96}, {'connected_gene': 'SNHG1', 'score': 12.72}, {'connected_gene': 'HRASLS2', 'score': 11.97}, {'connected_gene': 'ENSG00000203520', 'score': 11.27}, {'connected_gene': 'PLA2G16', 'score': 11.27}, {'connected_gene': 'TUT1', 'score': 11.13}, {'connected_gene': 'ENSG00000256789', 'score': 10.94}, {'connected_gene': 'NXF1', 'score': 10.38}, {'connected_gene': 'TAF6L', 'score': 10.24}, {'connected_gene': 'OTUB1', 'score': 5.95}, {'connected_gene': 'MARK2', 'score': 1.39}, {'connected_gene': 'PIR35897', 'score': 0.39}]
chr11 GH11I063494 63494821 63496061 0.69 [{'connected_gene': 'RARRES3', 'score': 11.92}, {'connected_gene': 'PLA2G16', 'score': 11.65}, {'connected_gene': 'ENSG00000203520', 'score': 11.65}, {'connected_gene': 'ENSG00000256789', 'score': 11.29}, {'connected_gene': 'ATL3', 'score': 10.15}, {'connected_gene': 'LGALS12', 'score': 6.51}, {'connected_gene': 'HRASLS5', 'score': 0.77}]
chr11 GH11I063502 63502053 63504338 1.02 [{'connected_gene': 'RARRES3', 'score': 11.95}, {'connected_gene': 'ENSG00000203520', 'score': 11.66}, {'connected_gene': 'PLA2G16', 'score': 11.66}, {'connected_gene': 'ENSG00000256789', 'score': 10.79}, {'connected_gene': 'ATL3', 'score': 10.16}, {'connected_gene': 'MARK2', 'score': 4.3}, {'connected_gene': 'RTN3', 'score': 3.23}, {'connected_gene': 'LGALS12', 'score': 2.03}, {'connected_gene': 'HRASLS5', 'score': 0.39}]
chr11 GH11I063563 63563091 63568920 2.22 [{'connected_gene': 'HRASLS2', 'score': 555.65}, {'connected_gene': 'RARRES3', 'score': 18.08}, {'connected_gene': 'TTC9C', 'score': 13.08}, {'connected_gene': 'ENSG00000203520', 'score': 11.08}, {'connected_gene': 'PLA2G16', 'score': 11.08}, {'connected_gene': 'ENSG00000256789', 'score': 10.74}, {'connected_gene': 'OTUB1', 'score': 7.81}, {'connected_gene': 'LOC105369335', 'score': 0.44}, {'connected_gene': 'GC11M063550', 'score': 0.14}]
chr11 GH11I063579 63579690 63581008 0.43 [{'connected_gene': 'PLA2G16', 'score': 11.51}, {'connected_gene': 'ENSG00000203520', 'score': 11.51}, {'connected_gene': 'RARRES3', 'score': 11.26}, {'connected_gene': 'ENSG00000256789', 'score': 10.57}, {'connected_gene': 'LOC105369335', 'score': 0.44}, {'connected_gene': 'GC11M063550', 'score': 0.15}]
chr11 GH11I063577 63577261 63578702 0.38 [{'connected_gene': 'PLA2G16', 'score': 15.71}, {'connected_gene': 'ENSG00000203520', 'score': 11.51}, {'connected_gene': 'RARRES3', 'score': 11.26}, {'connected_gene': 'ENSG00000256789', 'score': 10.57}, {'connected_gene': 'LOC105369335', 'score': 0.77}, {'connected_gene': 'GC11M063550', 'score': 0.15}]
chr11 GH11I063528 63528878 63530449 0.58 [{'connected_gene': 'PLA2G16', 'score': 11.4}, {'connected_gene': 'ENSG00000203520', 'score': 11.4}, {'connected_gene': 'ENSG00000256789', 'score': 10.52}, {'connected_gene': 'PIR35897', 'score': 0.44}, {'connected_gene': 'RARRES3', 'score': 0.44}]
chr11 GH11I063573 63573675 63575659 1.36 [{'connected_gene': 'LOC105369335', 'score': 550.77}, {'connected_gene': 'PLA2G16', 'score': 11.49}, {'connected_gene': 'ENSG00000203520', 'score': 11.49}, {'connected_gene': 'RARRES3', 'score': 11.28}, {'connected_gene': 'ENSG00000256789', 'score': 10.55}, {'connected_gene': 'HRASLS2', 'score': 0.44}, {'connected_gene': 'GC11M063550', 'score': 0.14}]
chr11 GH11I063999 63998949 64000024 1.39 [{'connected_gene': 'LOC101927673', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 15.23}, {'connected_gene': 'ENSG00000257086', 'score': 11.6}, {'connected_gene': 'MEN1', 'score': 10.84}, {'connected_gene': 'OTUB1', 'score': 10.32}, {'connected_gene': 'RARRES3', 'score': 4.64}, {'connected_gene': 'NAA40', 'score': 4.6}, {'connected_gene': 'FKBP2', 'score': 4.29}, {'connected_gene': 'GC11P063911', 'score': 0.16}, {'connected_gene': 'MACROD1', 'score': 0.1}]
chr11 GH11I063527 63527342 63528060 0.31 [{'connected_gene': 'PIR35897', 'score': 0.77}, {'connected_gene': 'RARRES3', 'score': 0.44}]
chr11 GH11I063549 63549414 63550086 0.2 [{'connected_gene': 'PIR37090', 'score': 550.77}, {'connected_gene': 'GC11P063556', 'score': 550.77}, {'connected_gene': 'ENSG00000256789', 'score': 10.48}, {'connected_gene': 'RARRES3', 'score': 0.39}]
chr11 GH11I063551 63551136 63555068 1.25 [{'connected_gene': 'PIR37090', 'score': 550.77}, {'connected_gene': 'GC11P063556', 'score': 550.77}, {'connected_gene': 'ENSG00000203520', 'score': 11.43}, {'connected_gene': 'PLA2G16', 'score': 11.43}, {'connected_gene': 'ENSG00000256789', 'score': 10.68}, {'connected_gene': 'OTUB1', 'score': 6.67}, {'connected_gene': 'HRASLS2', 'score': 5.81}, {'connected_gene': 'RARRES3', 'score': 4.46}, {'connected_gene': 'GC11M063550', 'score': 0.13}]