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
ENST00000297579 [[104426941, 104427744], [104432491, 104432691], [104433202, 104433310], [104438283, 104438373], [104439324, 104439480], [104442839, 104442917], [104444886, 104444969], [104447853, 104448018], [104452363, 104452499], [104453682, 104453846], [104455022, 104455681]] [[104427218, 104427744], [104432491, 104432691], [104433202, 104433310], [104438283, 104438373], [104439324, 104439480], [104442839, 104442917], [104444886, 104444969], [104447853, 104448018], [104452363, 104452499], [104453682, 104453846], [104455022, 104455110]]
ENST00000521716 [[104427592, 104427744], [104432491, 104432876]] [[104427686, 104427744], [104432491, 104432724]]
ENST00000521971 [[104427606, 104427744], [104432491, 104432691], [104438283, 104438373], [104439324, 104440945]] [[104427686, 104427744], [104432491, 104432691], [104438283, 104438373], [104439324, 104439522]]
ENST00000521999 [[104427612, 104427744], [104438283, 104438373], [104439324, 104439480], [104442839, 104442917], [104444886, 104444969], [104447853, 104448018], [104452363, 104452504]] None
ENST00000519682 [[104427639, 104427744], [104432491, 104432691], [104433202, 104433310], [104438283, 104438373], [104439324, 104439658]] [[104427686, 104427744], [104432491, 104432691], [104433202, 104433310], [104438283, 104438373], [104439324, 104439522]]
ENST00000518554 [[104427639, 104427744], [104432491, 104432691], [104433202, 104433310], [104438283, 104438373], [104439324, 104442917], [104444886, 104444969], [104447853, 104448018], [104452363, 104452499], [104453682, 104453846], [104455022, 104455678]] None
NM_015420 [[104426941, 104427744], [104432491, 104432691], [104433202, 104433310], [104438283, 104438373], [104439324, 104439480], [104442839, 104442917], [104444886, 104444969], [104447853, 104448018], [104452363, 104452499], [104453682, 104453846], [104455022, 104455681]] [[104427218, 104427744], [104432491, 104432691], [104433202, 104433310], [104438283, 104438373], [104439324, 104439480], [104442839, 104442917], [104444886, 104444969], [104447853, 104448018], [104452363, 104452499], [104453682, 104453846], [104455022, 104455110]]
Promoter
Chrom Start End Description
chr8 104427080 104427102 CAGE_peak_3_at_DCAF13_5end
chr8 104427581 104427677 CAGE_peak_1_at_DCAF13_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I103346 103346871 103350549 1.23 [{'connected_gene': 'FZD6', 'score': 24.14}, {'connected_gene': 'CTHRC1', 'score': 19.26}, {'connected_gene': 'BAALC-AS1', 'score': 15.04}, {'connected_gene': 'RNU6-1011P', 'score': 11.8}, {'connected_gene': 'LINC01181', 'score': 9.67}, {'connected_gene': 'DCAF13', 'score': 5.79}, {'connected_gene': 'ENSG00000266289', 'score': 5.14}, {'connected_gene': 'ATP6V1C1', 'score': 2.31}, {'connected_gene': 'AZIN1', 'score': 2.16}, {'connected_gene': 'SLC25A32', 'score': 1.42}, {'connected_gene': 'GC08P103357', 'score': 0.44}, {'connected_gene': 'GC08P103328', 'score': 0.34}]
chr8 GH08I103297 103297819 103300382 1.89 [{'connected_gene': 'FZD6', 'score': 565.11}, {'connected_gene': 'LOC105369147', 'score': 550.77}, {'connected_gene': 'BAALC-AS1', 'score': 550.77}, {'connected_gene': 'UBR5', 'score': 11.39}, {'connected_gene': 'CTHRC1', 'score': 6.68}, {'connected_gene': 'ENSG00000266289', 'score': 5.84}, {'connected_gene': 'DCAF13', 'score': 4.53}, {'connected_gene': 'GC08P103328', 'score': 0.31}]
chr8 GH08I103323 103323642 103327224 0.43 [{'connected_gene': 'FZD6', 'score': 26.58}, {'connected_gene': 'BAALC-AS1', 'score': 11.89}, {'connected_gene': 'RNU6-1011P', 'score': 11.55}, {'connected_gene': 'DCAF13', 'score': 11.22}, {'connected_gene': 'SLC25A32', 'score': 11.22}, {'connected_gene': 'CTHRC1', 'score': 6.47}, {'connected_gene': 'GC08P103328', 'score': 0.77}]
chr8 GH08I103080 103080862 103081052 0.3 [{'connected_gene': 'KLF10', 'score': 12.34}, {'connected_gene': 'LINC01181', 'score': 10.81}, {'connected_gene': 'ATP6V1C1', 'score': 7.79}, {'connected_gene': 'AZIN1', 'score': 4.06}, {'connected_gene': 'SLC25A32', 'score': 1.91}, {'connected_gene': 'DCAF13', 'score': 1.4}, {'connected_gene': 'MTND1P5', 'score': 0.77}, {'connected_gene': 'PIR47023', 'score': 0.39}]
chr8 GH08I102803 102803965 102811559 1.85 [{'connected_gene': 'UBR5', 'score': 42.1}, {'connected_gene': 'ENSG00000272037', 'score': 21.79}, {'connected_gene': 'KLF10', 'score': 13.16}, {'connected_gene': 'FZD6', 'score': 13.14}, {'connected_gene': 'SLC25A32', 'score': 12.11}, {'connected_gene': 'DCAF13', 'score': 11.55}, {'connected_gene': 'GASAL1', 'score': 11.5}, {'connected_gene': 'AZIN1', 'score': 5.43}, {'connected_gene': 'ENSG00000253385', 'score': 0.25}]
chr8 GH08I102727 102727598 102732313 1.66 [{'connected_gene': 'UBR5', 'score': 14.57}, {'connected_gene': 'DCAF13', 'score': 10.32}, {'connected_gene': 'ENSG00000272037', 'score': 9.93}, {'connected_gene': 'FZD6', 'score': 9.72}, {'connected_gene': 'ADI1P2', 'score': 0.26}, {'connected_gene': 'GC08P102794', 'score': 0.21}, {'connected_gene': 'LOC101927245', 'score': 0.18}]
chr8 GH08I103405 103405778 103407393 0.76 [{'connected_gene': 'DCAF13', 'score': 14.6}, {'connected_gene': 'FZD6', 'score': 12.46}, {'connected_gene': 'CTHRC1', 'score': 11.45}, {'connected_gene': 'RNU6-1011P', 'score': 11.13}, {'connected_gene': 'LINC01181', 'score': 9.61}, {'connected_gene': 'SLC25A32', 'score': 6.83}, {'connected_gene': 'PIR39755', 'score': 0.39}]
chr8 GH08I103413 103413594 103416798 2.11 [{'connected_gene': 'DCAF13', 'score': 565.45}, {'connected_gene': 'SLC25A32', 'score': 550.77}, {'connected_gene': 'FZD6', 'score': 12.13}]
chr8 GH08I103512 103512133 103512322 0.69 [{'connected_gene': 'DCAF13', 'score': 11.59}, {'connected_gene': 'SLC25A32', 'score': 11.59}, {'connected_gene': 'LINC01181', 'score': 10.13}, {'connected_gene': 'FZD6', 'score': 10.1}, {'connected_gene': 'BAALC-AS1', 'score': 10.1}, {'connected_gene': 'RIMS2', 'score': 0.39}, {'connected_gene': 'LOC105375690', 'score': 0.39}, {'connected_gene': 'ENSG00000255105', 'score': 0.25}]
chr8 GH08I103444 103444630 103446488 0.89 [{'connected_gene': 'DCAF13', 'score': 26.7}, {'connected_gene': 'SLC25A32', 'score': 12.4}, {'connected_gene': 'RNU6-1011P', 'score': 10.42}, {'connected_gene': 'ENSG00000266289', 'score': 8.73}, {'connected_gene': 'ENSG00000261670', 'score': 0.37}]
chr8 GH08I103419 103419601 103420200 0.2 [{'connected_gene': 'DCAF13', 'score': 11.59}, {'connected_gene': 'SLC25A32', 'score': 0.77}, {'connected_gene': 'ENSG00000261670', 'score': 0.26}]
chr8 GH08I103183 103183244 103187809 1.37 [{'connected_gene': 'BAALC-AS2', 'score': 11.7}, {'connected_gene': 'ENSG00000253851', 'score': 10.82}, {'connected_gene': 'LINC01181', 'score': 10.48}, {'connected_gene': 'FZD6', 'score': 6.98}, {'connected_gene': 'DCAF13', 'score': 5.06}, {'connected_gene': 'ENSG00000266289', 'score': 4.68}, {'connected_gene': 'BAALC', 'score': 4.49}, {'connected_gene': 'AZIN1', 'score': 2.53}, {'connected_gene': 'MIR3151', 'score': 0.29}, {'connected_gene': 'PIR39342', 'score': 0.28}, {'connected_gene': 'BAALC-AS1', 'score': 0.14}]
chr8 GH08I103342 103342818 103346479 0.99 [{'connected_gene': 'CTHRC1', 'score': 19.4}, {'connected_gene': 'FZD6', 'score': 13.41}, {'connected_gene': 'DCAF13', 'score': 5.73}, {'connected_gene': 'ENSG00000266289', 'score': 5.27}, {'connected_gene': 'BAALC-AS1', 'score': 4.27}, {'connected_gene': 'GC08P103357', 'score': 0.39}, {'connected_gene': 'GC08P103328', 'score': 0.37}]
chr8 GH08I103371 103371001 103373806 2.32 [{'connected_gene': 'CTHRC1', 'score': 555.11}, {'connected_gene': 'DCAF13', 'score': 15.55}, {'connected_gene': 'FZD6', 'score': 10.69}, {'connected_gene': 'BAALC-AS1', 'score': 10.69}, {'connected_gene': 'LINC01181', 'score': 9.19}, {'connected_gene': 'SLC25A32', 'score': 4.54}, {'connected_gene': 'ENSG00000266289', 'score': 0.39}, {'connected_gene': 'GC08P103328', 'score': 0.26}]
chr8 GH08I102977 102977911 102981400 1.23 [{'connected_gene': 'ENSG00000254281', 'score': 550.77}, {'connected_gene': 'KLF10', 'score': 10.52}, {'connected_gene': 'AZIN1', 'score': 6.79}, {'connected_gene': 'ATP6V1C1', 'score': 4.09}, {'connected_gene': 'DCAF13', 'score': 1.93}, {'connected_gene': 'SLC25A32', 'score': 1.57}, {'connected_gene': 'GC08P103006', 'score': 0.31}]