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
ENST00000396081 [[35672268, 35673461], [35673921, 35674039], [35674744, 35675068], [35677959, 35678082], [35707043, 35707198], [35709824, 35709938], [35712810, 35712888], [35733793, 35734745]] [[35673299, 35673461], [35673921, 35674039], [35674744, 35675068], [35677959, 35678082], [35707043, 35707198], [35709824, 35709938], [35712810, 35712888], [35733793, 35733940]]
ENST00000311350 [[35672678, 35673461], [35673921, 35674039], [35674744, 35675068], [35677959, 35678082], [35707043, 35707198], [35709824, 35709938], [35712810, 35712888], [35733793, 35734237], [35734410, 35734745]] [[35673299, 35673461], [35673921, 35674039], [35674744, 35675068], [35677959, 35678082], [35707043, 35707198], [35709824, 35709938], [35712810, 35712888], [35733793, 35733940]]
ENST00000426180 [[35673921, 35674039], [35674744, 35675068], [35677959, 35678082], [35707043, 35707198], [35708152, 35708189]] None
ENST00000438224 [[35674953, 35675068], [35677959, 35678082], [35707043, 35707198], [35733793, 35734211]] [[35674953, 35675068], [35677959, 35678082], [35707043, 35707198], [35733793, 35733940]]
ENST00000413517 [[35675035, 35675068], [35677959, 35678082], [35707043, 35707198], [35709824, 35709938], [35733793, 35734176]] [[35675035, 35675068], [35677959, 35678082], [35707043, 35707198], [35709824, 35709938], [35733793, 35733940]]
ENST00000427455 [[35707163, 35707198], [35733793, 35734207], [35734410, 35734633]] [[35707163, 35707198], [35733793, 35733940]]
ENST00000603731 [[35733884, 35734237], [35735029, 35735181]] [[35733884, 35733940]]
NM_022373 [[35672268, 35673461], [35673921, 35674039], [35674744, 35675068], [35677959, 35678082], [35707043, 35707198], [35709824, 35709938], [35712810, 35712888], [35733793, 35734237], [35734410, 35734772]] [[35673299, 35673461], [35673921, 35674039], [35674744, 35675068], [35677959, 35678082], [35707043, 35707198], [35709824, 35709938], [35712810, 35712888], [35733793, 35733940]]
Promoter
Chrom Start End Description
chr7 35734086 35734103 CAGE_peak_12_at_HERPUD2_5end
chr7 35734205 35734252 CAGE_peak_8_at_HERPUD2_5end
chr7 35734257 35734280 CAGE_peak_11_at_HERPUD2_5end
chr7 35734486 35734515 CAGE_peak_3_at_HERPUD2_5end
chr7 35734524 35734545 CAGE_peak_5_at_HERPUD2_5end
chr7 35734583 35734592 CAGE_peak_10_at_HERPUD2_5end
chr7 35734607 35734664 CAGE_peak_2_at_HERPUD2_5end
chr7 35734675 35734693 CAGE_peak_6_at_HERPUD2_5end
chr7 35734704 35734718 CAGE_peak_4_at_HERPUD2_5end
chr7 35734730 35734777 CAGE_peak_1_at_HERPUD2_5end
chr7 35734790 35734802 CAGE_peak_7_at_HERPUD2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I035718 35718149 35718252 0.45 [{'connected_gene': 'SEPT7', 'score': 13.69}, {'connected_gene': 'HERPUD2', 'score': 12.05}, {'connected_gene': 'SEPT7-AS1', 'score': 11.2}, {'connected_gene': 'LOC100506725', 'score': 0.77}, {'connected_gene': 'GC07M035768', 'score': 0.23}]
chr7 GH07I036188 36188296 36188601 0.75 [{'connected_gene': 'EEPD1', 'score': 7.48}, {'connected_gene': 'HERPUD2', 'score': 1.54}, {'connected_gene': 'PIR39521', 'score': 0.44}, {'connected_gene': 'PIR31290', 'score': 0.39}]
chr7 GH07I036190 36190402 36193799 1.33 [{'connected_gene': 'EEPD1', 'score': 16.52}, {'connected_gene': 'HERPUD2', 'score': 2.78}, {'connected_gene': 'PIR39521', 'score': 0.77}, {'connected_gene': 'PIR31290', 'score': 0.37}]
chr7 GH07I035380 35380792 35381032 0.56 [{'connected_gene': 'HERPUD2', 'score': 1.22}, {'connected_gene': 'LOC105375230', 'score': 0.77}, {'connected_gene': 'LOC401324', 'score': 0.2}]
chr7 GH07I035689 35689620 35698733 2.49 [{'connected_gene': 'HERPUD2', 'score': 596.77}, {'connected_gene': 'LOC101930085', 'score': 576.74}, {'connected_gene': 'PIR44238', 'score': 550.77}, {'connected_gene': 'PIR41144', 'score': 550.77}, {'connected_gene': 'GC07P035696', 'score': 550.77}, {'connected_gene': 'PIR39339', 'score': 550.77}, {'connected_gene': 'PIR39439', 'score': 550.77}, {'connected_gene': 'GC07P035695', 'score': 550.77}, {'connected_gene': 'EEPD1', 'score': 3.72}, {'connected_gene': 'SEPT7', 'score': 1.57}, {'connected_gene': 'PIR50887', 'score': 0.77}, {'connected_gene': 'PIR56078', 'score': 0.77}, {'connected_gene': 'LOC101928421', 'score': 0.21}]
chr7 GH07I035830 35830001 35830400 0.63 [{'connected_gene': 'HERPUD2', 'score': 11.2}, {'connected_gene': 'LOC101930085', 'score': 8.76}, {'connected_gene': 'SEPT7-AS1', 'score': 6.14}, {'connected_gene': 'ENSG00000274328', 'score': 0.37}, {'connected_gene': 'SEPT7', 'score': 0.31}, {'connected_gene': 'GC07M035815', 'score': 0.28}]
chr7 GH07I035687 35687531 35687680 0.31 [{'connected_gene': 'HERPUD2', 'score': 0.44}, {'connected_gene': 'LOC101930085', 'score': 0.44}, {'connected_gene': 'LOC101928421', 'score': 0.22}]
chr7 GH07I035680 35680331 35681012 0.2 [{'connected_gene': 'HERPUD2', 'score': 0.39}, {'connected_gene': 'LOC101930085', 'score': 0.39}, {'connected_gene': 'LOC101928421', 'score': 0.23}]
chr7 GH07I035719 35719706 35720815 0.2 [{'connected_gene': 'HERPUD2', 'score': 17.57}, {'connected_gene': 'SEPT7-AS1', 'score': 11.61}, {'connected_gene': 'SEPT7', 'score': 11.61}, {'connected_gene': 'LOC101930085', 'score': 6.34}, {'connected_gene': 'LOC100506725', 'score': 0.44}, {'connected_gene': 'GC07M035768', 'score': 0.25}]
chr7 GH07I035724 35724328 35731342 1.57 [{'connected_gene': 'HERPUD2', 'score': 20.82}, {'connected_gene': 'SEPT7-AS1', 'score': 17.19}, {'connected_gene': 'SEPT7', 'score': 11.97}, {'connected_gene': 'LOC101930085', 'score': 8.51}, {'connected_gene': 'LOC100506725', 'score': 0.39}, {'connected_gene': 'GC07M035768', 'score': 0.26}]
chr7 GH07I035796 35796160 35798368 0.2 [{'connected_gene': 'HERPUD2', 'score': 11.22}, {'connected_gene': 'SEPT7-AS1', 'score': 0.77}, {'connected_gene': 'LOC442293', 'score': 0.31}]
chr7 GH07I035917 35917091 35917220 0.85 [{'connected_gene': 'HERPUD2', 'score': 10.73}, {'connected_gene': 'GC07P035920', 'score': 0.77}, {'connected_gene': 'PIR51265', 'score': 0.34}]
chr7 GH07I036386 36386702 36397058 2.48 [{'connected_gene': 'KIAA0895', 'score': 590.51}, {'connected_gene': 'ANLN', 'score': 550.77}, {'connected_gene': 'HERPUD2', 'score': 13.07}, {'connected_gene': 'ENSG00000237400', 'score': 0.19}, {'connected_gene': 'GC07P036215', 'score': 0.1}]
chr7 GH07I035648 35648382 35648834 0.88 [{'connected_gene': 'LOC101930085', 'score': 25.16}, {'connected_gene': 'HERPUD2', 'score': 20.31}, {'connected_gene': 'LOC101928421', 'score': 0.37}]
chr7 GH07I035645 35645775 35648137 1.01 [{'connected_gene': 'LOC101930085', 'score': 25.16}, {'connected_gene': 'HERPUD2', 'score': 20.23}, {'connected_gene': 'LOC101928421', 'score': 0.37}]
chr7 GH07I035670 35670591 35671566 0.49 [{'connected_gene': 'LOC101930085', 'score': 11.53}, {'connected_gene': 'SEPT7-AS1', 'score': 11.01}, {'connected_gene': 'SEPT7', 'score': 11.01}, {'connected_gene': 'HERPUD2', 'score': 0.34}, {'connected_gene': 'LOC101928421', 'score': 0.26}]
chr7 GH07I035723 35723131 35723280 0.69 [{'connected_gene': 'SEPT7-AS1', 'score': 11.61}, {'connected_gene': 'SEPT7', 'score': 11.61}, {'connected_gene': 'HERPUD2', 'score': 11.46}, {'connected_gene': 'LOC100506725', 'score': 0.44}, {'connected_gene': 'GC07M035768', 'score': 0.25}]
chr7 GH07I035749 35749605 35750130 0.58 [{'connected_gene': 'SEPT7-AS1', 'score': 10.95}, {'connected_gene': 'SEPT7', 'score': 10.95}, {'connected_gene': 'HERPUD2', 'score': 4.79}, {'connected_gene': 'GC07M035768', 'score': 0.37}, {'connected_gene': 'LOC100506725', 'score': 0.29}]
chr7 GH07I035720 35720870 35723043 0.63 [{'connected_gene': 'SEPT7-AS1', 'score': 16.84}, {'connected_gene': 'HERPUD2', 'score': 16.28}, {'connected_gene': 'SEPT7', 'score': 11.61}, {'connected_gene': 'LOC100506725', 'score': 0.44}, {'connected_gene': 'GC07M035768', 'score': 0.25}]
chr7 GH07I035715 35715807 35717817 0.86 [{'connected_gene': 'LOC100506725', 'score': 550.77}, {'connected_gene': 'LOC101930085', 'score': 25.63}, {'connected_gene': 'HERPUD2', 'score': 20.5}, {'connected_gene': 'SEPT7-AS1', 'score': 11.35}, {'connected_gene': 'SEPT7', 'score': 11.35}, {'connected_gene': 'GC07M035768', 'score': 0.23}]
chr7 GH07I035714 35714717 35715660 0.8 [{'connected_gene': 'LOC100506725', 'score': 550.77}, {'connected_gene': 'LOC101930085', 'score': 11.52}, {'connected_gene': 'SEPT7-AS1', 'score': 11.34}, {'connected_gene': 'SEPT7', 'score': 11.34}, {'connected_gene': 'HERPUD2', 'score': 8.28}, {'connected_gene': 'GC07M035768', 'score': 0.23}]
chr7 GH07I036175 36175529 36176600 0.98 [{'connected_gene': 'PIR31290', 'score': 550.77}, {'connected_gene': 'EEPD1', 'score': 15.88}, {'connected_gene': 'HERPUD2', 'score': 3.26}, {'connected_gene': 'PIR39521', 'score': 0.37}]