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
ENST00000474320 [[43597338, 43597870], [43639821, 43639873], [43643065, 43643139], [43652747, 43653013]] None
ENST00000379221 [[43597338, 43597870], [43639821, 43639873], [43643065, 43643139], [43652747, 43652824], [43659903, 43659974], [43681313, 43683045]] [[43597762, 43597870], [43639821, 43639873], [43643065, 43643139], [43652747, 43652824], [43659903, 43659974], [43681313, 43681384]]
NM_013238 [[43597361, 43597870], [43639821, 43639873], [43643065, 43643139], [43652747, 43652824], [43659903, 43659974], [43681313, 43683306]] [[43597762, 43597870], [43639821, 43639873], [43643065, 43643139], [43652747, 43652824], [43659903, 43659974], [43681313, 43681384]]
Promoter
Chrom Start End Description
chr13 43597269 43597290 CAGE_peak_5_at_DNAJC15_5end
chr13 43597504 43597523 CAGE_peak_2_at_DNAJC15_5end
chr13 43597664 43597675 CAGE_peak_3_at_DNAJC15_5end
chr13 43597714 43597774 CAGE_peak_1_at_DNAJC15_5end
chr13 43597839 43597846 CAGE_peak_4_at_DNAJC15_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I042989 42989838 42993855 2.05 [{'connected_gene': 'EPSTI1', 'score': 565.83}, {'connected_gene': 'DNAJC15', 'score': 9.66}, {'connected_gene': 'GC13P042964', 'score': 0.31}]
chr13 GH13I043036 43036801 43037000 0.2 [{'connected_gene': 'EPSTI1', 'score': 11.27}, {'connected_gene': 'GC13P043043', 'score': 0.44}, {'connected_gene': 'GC13P043024', 'score': 0.39}, {'connected_gene': 'DNAJC15', 'score': 0.39}]
chr13 GH13I043087 43087532 43088801 0.81 [{'connected_gene': 'EPSTI1', 'score': 15.34}, {'connected_gene': 'CCDC122', 'score': 10.07}, {'connected_gene': 'LACC1', 'score': 10.07}, {'connected_gene': 'GC13P043094', 'score': 0.44}, {'connected_gene': 'GC13M043046', 'score': 0.26}, {'connected_gene': 'DNAJC15', 'score': 0.21}]
chr13 GH13I043053 43053457 43062490 1.19 [{'connected_gene': 'DNAJC15', 'score': 43.8}, {'connected_gene': 'EPSTI1', 'score': 20.07}, {'connected_gene': 'CCDC122', 'score': 4.68}, {'connected_gene': 'GC13M043046', 'score': 0.39}, {'connected_gene': 'GC13P043094', 'score': 0.28}]
chr13 GH13I042995 42995801 42998233 1.22 [{'connected_gene': 'DNAJC15', 'score': 33.83}, {'connected_gene': 'EPSTI1', 'score': 25.0}, {'connected_gene': 'LOC105370179', 'score': 0.44}]
chr13 GH13I043021 43021820 43021966 0.38 [{'connected_gene': 'DNAJC15', 'score': 550.77}, {'connected_gene': 'EPSTI1', 'score': 12.16}, {'connected_gene': 'LOC105370179', 'score': 0.37}]
chr13 GH13I043076 43076713 43078287 0.31 [{'connected_gene': 'DNAJC15', 'score': 41.89}, {'connected_gene': 'EPSTI1', 'score': 11.17}, {'connected_gene': 'GC13P043094', 'score': 0.37}, {'connected_gene': 'GC13M043046', 'score': 0.29}]
chr13 GH13I043048 43048801 43050600 0.98 [{'connected_gene': 'DNAJC15', 'score': 45.45}, {'connected_gene': 'EPSTI1', 'score': 21.98}, {'connected_gene': 'GC13M043046', 'score': 0.77}, {'connected_gene': 'GC13P043094', 'score': 0.26}]
chr13 GH13I042967 42967315 42970177 1.04 [{'connected_gene': 'DNAJC15', 'score': 22.27}, {'connected_gene': 'EPSTI1', 'score': 12.62}, {'connected_gene': 'GC13P042964', 'score': 0.77}]
chr13 GH13I042980 42980453 42983237 0.66 [{'connected_gene': 'DNAJC15', 'score': 28.36}, {'connected_gene': 'EPSTI1', 'score': 7.11}, {'connected_gene': 'GC13P042964', 'score': 0.37}]
chr13 GH13I042975 42975533 42976483 0.2 [{'connected_gene': 'DNAJC15', 'score': 7.63}, {'connected_gene': 'GC13P042964', 'score': 0.39}, {'connected_gene': 'EPSTI1', 'score': 0.37}]
chr13 GH13I042984 42984594 42986567 0.83 [{'connected_gene': 'DNAJC15', 'score': 27.21}, {'connected_gene': 'EPSTI1', 'score': 0.44}, {'connected_gene': 'GC13P042964', 'score': 0.34}]
chr13 GH13I043022 43022532 43024814 1.92 [{'connected_gene': 'DNAJC15', 'score': 628.86}, {'connected_gene': 'GC13P043024', 'score': 550.77}, {'connected_gene': 'EPSTI1', 'score': 16.91}]
chr13 GH13I043070 43070531 43073489 0.56 [{'connected_gene': 'DNAJC15', 'score': 43.81}, {'connected_gene': 'CCDC122', 'score': 4.82}, {'connected_gene': 'GC13P043094', 'score': 0.34}, {'connected_gene': 'GC13M043046', 'score': 0.31}]
chr13 GH13I043006 43006397 43007738 0.43 [{'connected_gene': 'DNAJC15', 'score': 8.43}, {'connected_gene': 'LOC105370179', 'score': 0.77}]
chr13 GH13I043126 43126753 43128935 0.8 [{'connected_gene': 'DNAJC15', 'score': 4.38}, {'connected_gene': 'LINC00400', 'score': 0.39}, {'connected_gene': 'GC13P043148', 'score': 0.34}, {'connected_gene': 'GC13P043094', 'score': 0.29}]
chr13 GH13I043121 43121733 43123500 0.43 [{'connected_gene': 'DNAJC15', 'score': 5.57}, {'connected_gene': 'LINC00400', 'score': 0.44}, {'connected_gene': 'GC13P043094', 'score': 0.31}, {'connected_gene': 'GC13P043148', 'score': 0.31}]
chr13 GH13I043005 43005545 43005734 0.56 [{'connected_gene': 'LOC105370179', 'score': 0.77}, {'connected_gene': 'DNAJC15', 'score': 0.37}]
chr13 GH13I043007 43006012 43006360 0.38 [{'connected_gene': 'LOC105370179', 'score': 0.77}, {'connected_gene': 'DNAJC15', 'score': 0.37}]
chr13 GH13I043002 43002395 43004012 0.2 [{'connected_gene': 'LOC105370179', 'score': 550.77}, {'connected_gene': 'DNAJC15', 'score': 10.53}]
chr13 GH13I043004 43004945 43004974 0.38 [{'connected_gene': 'LOC105370179', 'score': 0.77}, {'connected_gene': 'DNAJC15', 'score': 0.37}]
chr13 GH13I043043 43043135 43046399 1.23 [{'connected_gene': 'GC13M043046', 'score': 550.77}, {'connected_gene': 'GC13P043043', 'score': 550.77}, {'connected_gene': 'DNAJC15', 'score': 43.98}, {'connected_gene': 'EPSTI1', 'score': 16.35}, {'connected_gene': 'TNFSF11', 'score': 1.37}]
chr13 GH13I043039 43039687 43042929 0.76 [{'connected_gene': 'GC13P043043', 'score': 550.77}, {'connected_gene': 'DNAJC15', 'score': 60.77}, {'connected_gene': 'EPSTI1', 'score': 16.38}, {'connected_gene': 'GC13P043024', 'score': 0.37}]
chr13 GH13I042965 42965019 42965825 0.2 [{'connected_gene': 'GC13P042964', 'score': 550.77}, {'connected_gene': 'DNAJC15', 'score': 6.83}, {'connected_gene': 'EPSTI1', 'score': 0.31}]