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
ENST00000375123 [[100615535, 100618986]] [[100616196, 100617318]]
NM_004473 [[100615536, 100618997]] [[100616196, 100617318]]
Promoter
Chrom Start End Description
chr9 100615499 100615519 CAGE_peak_1_at_FOXE1_5end
chr9 100615546 100615558 CAGE_peak_4_at_FOXE1_5end
chr9 100616439 100616476 CAGE_peak_3_at_FOXE1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I098117 98117444 98123006 2.54 [{'connected_gene': 'TRIM14', 'score': 559.71}, {'connected_gene': 'NCBP1', 'score': 56.4}, {'connected_gene': 'ZNF322P1', 'score': 38.92}, {'connected_gene': 'TSTD2', 'score': 38.4}, {'connected_gene': 'ENSG00000254633', 'score': 26.39}, {'connected_gene': 'CORO2A', 'score': 22.74}, {'connected_gene': 'ANKS6', 'score': 21.53}, {'connected_gene': 'CCDC180', 'score': 18.62}, {'connected_gene': 'LOC105376171', 'score': 12.1}, {'connected_gene': 'XPA', 'score': 11.9}, {'connected_gene': 'TBC1D2', 'score': 10.26}, {'connected_gene': 'TRMO', 'score': 5.09}, {'connected_gene': 'FOXE1', 'score': 5.03}, {'connected_gene': 'HEMGN', 'score': 1.26}, {'connected_gene': 'PIR36587', 'score': 0.39}]
chr9 GH09I097703 97703092 97705077 1.06 [{'connected_gene': 'TMOD1', 'score': 10.7}, {'connected_gene': 'FOXE1', 'score': 10.58}, {'connected_gene': 'KRT18P13', 'score': 9.31}, {'connected_gene': 'TRMO', 'score': 7.24}, {'connected_gene': 'TSTD2', 'score': 6.78}, {'connected_gene': 'ENSG00000260677', 'score': 0.28}]
chr9 GH09I097932 97932895 97944494 1.67 [{'connected_gene': 'HEMGN', 'score': 550.44}, {'connected_gene': 'ENSG00000236896', 'score': 22.76}, {'connected_gene': 'TRMO', 'score': 21.52}, {'connected_gene': 'ANP32B', 'score': 12.13}, {'connected_gene': 'ANKS6', 'score': 4.95}, {'connected_gene': 'FOXE1', 'score': 4.64}]
chr9 GH09I097909 97909895 97912672 0.51 [{'connected_gene': 'TRMO', 'score': 19.86}, {'connected_gene': 'HEMGN', 'score': 11.18}, {'connected_gene': 'FOXE1', 'score': 10.71}, {'connected_gene': 'TBC1D2', 'score': 10.54}, {'connected_gene': 'GC09P097916', 'score': 0.77}, {'connected_gene': 'GC09P097870', 'score': 0.26}]
chr9 GH09I097902 97902371 97904127 0.31 [{'connected_gene': 'TRMO', 'score': 34.75}, {'connected_gene': 'FOXE1', 'score': 20.07}, {'connected_gene': 'TBC1D2', 'score': 10.41}, {'connected_gene': 'GC09P097916', 'score': 0.39}, {'connected_gene': 'GC09P097870', 'score': 0.29}]
chr9 GH09I097904 97904601 97909521 1.2 [{'connected_gene': 'TRMO', 'score': 36.04}, {'connected_gene': 'FOXE1', 'score': 30.52}, {'connected_gene': 'KRT18P13', 'score': 11.13}, {'connected_gene': 'XPA', 'score': 11.13}, {'connected_gene': 'TBC1D2', 'score': 10.41}, {'connected_gene': 'GC09P097916', 'score': 0.44}, {'connected_gene': 'GC09P097870', 'score': 0.28}]
chr9 GH09I097890 97890059 97890168 0.62 [{'connected_gene': 'TRMO', 'score': 13.93}, {'connected_gene': 'FOXE1', 'score': 11.57}, {'connected_gene': 'GC09P097870', 'score': 0.37}, {'connected_gene': 'GC09P097916', 'score': 0.31}]
chr9 GH09I097699 97699201 97699800 0.68 [{'connected_gene': 'KRT18P13', 'score': 550.77}, {'connected_gene': 'FOXE1', 'score': 10.58}, {'connected_gene': 'ENSG00000260677', 'score': 0.26}]
chr9 GH09I097694 97694201 97694400 0.43 [{'connected_gene': 'FOXE1', 'score': 9.99}, {'connected_gene': 'XPA', 'score': 0.77}, {'connected_gene': 'GC09M097677', 'score': 0.39}]
chr9 GH09I097689 97689539 97689688 0.54 [{'connected_gene': 'FOXE1', 'score': 9.99}, {'connected_gene': 'XPA', 'score': 0.44}, {'connected_gene': 'GC09M097677', 'score': 0.39}]
chr9 GH09I097757 97757887 97762132 0.86 [{'connected_gene': 'FOXE1', 'score': 10.19}, {'connected_gene': 'TRMO', 'score': 9.03}, {'connected_gene': 'KRT18P13', 'score': 5.48}, {'connected_gene': 'TSTD2', 'score': 4.17}, {'connected_gene': 'ENSG00000260677', 'score': 0.37}, {'connected_gene': 'PTCSC2', 'score': 0.16}]
chr9 GH09I097873 97873936 97878227 1.54 [{'connected_gene': 'FOXE1', 'score': 32.86}, {'connected_gene': 'TRMO', 'score': 32.83}, {'connected_gene': 'GC09P097870', 'score': 0.44}, {'connected_gene': 'GC09P097916', 'score': 0.28}]
chr9 GH09I097901 97901119 97901268 0.74 [{'connected_gene': 'FOXE1', 'score': 15.93}, {'connected_gene': 'GC09P097916', 'score': 0.39}, {'connected_gene': 'TRMO', 'score': 0.34}, {'connected_gene': 'GC09P097870', 'score': 0.29}]
chr9 GH09I097801 97801873 97804234 1.54 [{'connected_gene': 'FOXE1', 'score': 20.77}, {'connected_gene': 'NUTM2G', 'score': 11.88}, {'connected_gene': 'CORO2A', 'score': 1.29}, {'connected_gene': 'PTCSC2', 'score': 0.23}, {'connected_gene': 'ENSG00000260677', 'score': 0.22}]
chr9 GH09I097692 97692411 97692571 0.33 [{'connected_gene': 'FOXE1', 'score': 9.99}, {'connected_gene': 'TSTD2', 'score': 2.44}, {'connected_gene': 'XPA', 'score': 1.92}, {'connected_gene': 'GC09M097677', 'score': 0.39}]
chr9 GH09I097747 97747158 97748540 0.2 [{'connected_gene': 'FOXE1', 'score': 10.6}, {'connected_gene': 'TSTD2', 'score': 4.34}, {'connected_gene': 'ENSG00000260677', 'score': 0.77}, {'connected_gene': 'PTCSC2', 'score': 0.14}]
chr9 GH09I097750 97750048 97752847 0.46 [{'connected_gene': 'FOXE1', 'score': 10.7}, {'connected_gene': 'TSTD2', 'score': 4.24}, {'connected_gene': 'ENSG00000260677', 'score': 0.44}, {'connected_gene': 'PTCSC2', 'score': 0.15}]
chr9 GH09I097786 97786264 97787358 0.81 [{'connected_gene': 'FOXE1', 'score': 37.81}, {'connected_gene': 'ENSG00000260677', 'score': 0.26}, {'connected_gene': 'PTCSC2', 'score': 0.2}]
chr9 GH09I097768 97768839 97769128 0.54 [{'connected_gene': 'FOXE1', 'score': 10.8}, {'connected_gene': 'ENSG00000260677', 'score': 0.31}, {'connected_gene': 'PTCSC2', 'score': 0.18}]
chr9 GH09I097831 97831401 97831600 0.54 [{'connected_gene': 'FOXE1', 'score': 12.57}, {'connected_gene': 'PTCSC2', 'score': 0.34}, {'connected_gene': 'ENSG00000260677', 'score': 0.17}]
chr9 GH09I097789 97789123 97789908 0.82 [{'connected_gene': 'FOXE1', 'score': 16.23}, {'connected_gene': 'ENSG00000260677', 'score': 0.25}, {'connected_gene': 'PTCSC2', 'score': 0.21}]
chr9 GH09I097792 97792792 97793806 0.65 [{'connected_gene': 'FOXE1', 'score': 10.89}, {'connected_gene': 'ENSG00000260677', 'score': 0.23}, {'connected_gene': 'PTCSC2', 'score': 0.22}]
chr9 GH09I097773 97773248 97773587 0.2 [{'connected_gene': 'FOXE1', 'score': 10.81}, {'connected_gene': 'ENSG00000260677', 'score': 0.29}, {'connected_gene': 'PTCSC2', 'score': 0.18}]
chr9 GH09I097862 97862581 97864397 0.78 [{'connected_gene': 'FOXE1', 'score': 21.31}, {'connected_gene': 'GC09P097870', 'score': 0.44}]
chr9 GH09I097858 97858099 97858248 0.38 [{'connected_gene': 'FOXE1', 'score': 26.64}, {'connected_gene': 'GC09P097870', 'score': 0.39}]
chr9 GH09I097688 97688158 97689488 0.54 [{'connected_gene': 'RNU6-918P', 'score': 10.11}, {'connected_gene': 'FOXE1', 'score': 9.99}, {'connected_gene': 'XPA', 'score': 0.44}, {'connected_gene': 'GC09M097677', 'score': 0.44}]
chr9 GH09I097856 97853515 97853574 0.82 [{'connected_gene': 'PTCSC2', 'score': 550.77}, {'connected_gene': 'FOXE1', 'score': 550.77}, {'connected_gene': 'ZNF782', 'score': 18.98}, {'connected_gene': 'NCBP1', 'score': 18.01}, {'connected_gene': 'LOC441454', 'score': 13.44}, {'connected_gene': 'TSTD2', 'score': 12.86}, {'connected_gene': 'MFSD14C', 'score': 12.05}, {'connected_gene': 'ZNF322P1', 'score': 10.46}, {'connected_gene': 'GC09P097870', 'score': 0.37}]
chr9 GH09I097852 97852119 97852208 0.38 [{'connected_gene': 'PTCSC2', 'score': 550.77}, {'connected_gene': 'FOXE1', 'score': 550.77}, {'connected_gene': 'ENSG00000260677', 'score': 0.14}]
chr9 GH09I097854 97852519 97852548 0.38 [{'connected_gene': 'PTCSC2', 'score': 550.77}, {'connected_gene': 'FOXE1', 'score': 550.77}, {'connected_gene': 'ENSG00000260677', 'score': 0.14}]
chr9 GH09I097855 97854079 97854228 0.63 [{'connected_gene': 'PTCSC2', 'score': 550.77}, {'connected_gene': 'FOXE1', 'score': 550.77}, {'connected_gene': 'GC09P097870', 'score': 0.37}]
chr9 GH09I097853 97853179 97853238 0.61 [{'connected_gene': 'PTCSC2', 'score': 550.77}, {'connected_gene': 'FOXE1', 'score': 550.77}]