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
ENST00000309575 [[142838172, 142839383], [142839485, 142841800]] [[142839658, 142841251]]
NM_004267 [[142838617, 142839383], [142839485, 142842856]] [[142839658, 142841251]]
Promoter
Chrom Start End Description
chr3 142838091 142838109 CAGE_peak_6_at_CHST2_5end
chr3 142838563 142838574 CAGE_peak_5_at_CHST2_5end
chr3 142838591 142838621 CAGE_peak_2_at_CHST2_5end
chr3 142838629 142838697 CAGE_peak_1_at_CHST2_5end
chr3 142838741 142838764 CAGE_peak_3_at_CHST2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I143307 143307600 143308200 1.4 [{'connected_gene': 'CHST2', 'score': 1.34}, {'connected_gene': 'ENSG00000240888', 'score': 0.44}, {'connected_gene': 'PBX2P1', 'score': 0.12}, {'connected_gene': 'SLC9A9', 'score': 0.03}]
chr3 GH03I143479 143479607 143481111 0.2 [{'connected_gene': 'CHST2', 'score': 13.17}, {'connected_gene': 'GC03M143504', 'score': 0.34}, {'connected_gene': 'GC03M143367', 'score': 0.34}, {'connected_gene': 'SLC9A9', 'score': 0.05}]
chr3 GH03I143118 143118593 143124105 1.98 [{'connected_gene': 'CHST2', 'score': 559.26}, {'connected_gene': 'U2SURP', 'score': 31.51}, {'connected_gene': 'XRN1', 'score': 27.46}, {'connected_gene': 'ATR', 'score': 23.82}, {'connected_gene': 'PBX2P1', 'score': 13.24}, {'connected_gene': 'GK5', 'score': 10.33}, {'connected_gene': 'ENSG00000241679', 'score': 9.2}, {'connected_gene': 'LOC105374137', 'score': 0.39}]
chr3 GH03I143446 143446189 143447154 0.2 [{'connected_gene': 'CHST2', 'score': 10.88}, {'connected_gene': 'GC03M143367', 'score': 0.44}, {'connected_gene': 'SLC9A9-AS2', 'score': 0.2}, {'connected_gene': 'SLC9A9', 'score': 0.05}]
chr3 GH03I143507 143507392 143509402 0.2 [{'connected_gene': 'CHST2', 'score': 9.6}, {'connected_gene': 'GAPDHP47', 'score': 0.77}, {'connected_gene': 'GC03P143515', 'score': 0.44}, {'connected_gene': 'SLC9A9', 'score': 0.05}]
chr3 GH03I143524 143524646 143530365 0.74 [{'connected_gene': 'ATR', 'score': 9.74}, {'connected_gene': 'CHST2', 'score': 9.61}, {'connected_gene': 'GC03M143519', 'score': 0.77}, {'connected_gene': 'GC03P143544', 'score': 0.37}, {'connected_gene': 'SLC9A9', 'score': 0.05}]
chr3 GH03I143442 143442454 143445873 1.57 [{'connected_gene': 'U2SURP', 'score': 22.76}, {'connected_gene': 'ATR', 'score': 12.83}, {'connected_gene': 'XRN1', 'score': 10.16}, {'connected_gene': 'CHST2', 'score': 9.59}, {'connected_gene': 'GC03M143367', 'score': 0.39}, {'connected_gene': 'SLC9A9-AS2', 'score': 0.21}, {'connected_gene': 'SLC9A9', 'score': 0.05}]
chr3 GH03I143978 143978756 143980826 0.4 [{'connected_gene': 'C3orf58', 'score': 9.52}, {'connected_gene': 'CHST2', 'score': 5.86}, {'connected_gene': 'RNA5SP144', 'score': 0.08}]
chr3 GH03I143970 143970401 143978519 2.56 [{'connected_gene': 'C3orf58', 'score': 563.97}, {'connected_gene': 'PBX2P1', 'score': 30.36}, {'connected_gene': 'CHST2', 'score': 7.01}, {'connected_gene': 'RNA5SP144', 'score': 0.08}]
chr3 GH03I143126 143126033 143126055 0.22 [{'connected_gene': 'SLC9A9-AS1', 'score': 10.15}, {'connected_gene': 'CHST2', 'score': 4.59}, {'connected_gene': 'PAQR9', 'score': 2.24}, {'connected_gene': 'GC03P143130', 'score': 0.77}, {'connected_gene': 'ENSG00000241679', 'score': 0.77}, {'connected_gene': 'LOC105374137', 'score': 0.44}]
chr3 GH03I143435 143435659 143437566 0.4 [{'connected_gene': 'SLC9A9-AS1', 'score': 9.89}, {'connected_gene': 'CHST2', 'score': 6.8}, {'connected_gene': 'GC03M143367', 'score': 0.34}, {'connected_gene': 'SLC9A9-AS2', 'score': 0.22}, {'connected_gene': 'SLC9A9', 'score': 0.05}]
chr3 GH03I143139 143139413 143140349 0.43 [{'connected_gene': 'SLC9A9-AS1', 'score': 9.65}, {'connected_gene': 'CHST2', 'score': 9.45}, {'connected_gene': 'LOC105374137', 'score': 0.44}, {'connected_gene': 'PBX2P1', 'score': 0.28}]
chr3 GH03I143134 143134669 143136005 0.83 [{'connected_gene': 'SLC9A9-AS1', 'score': 9.88}, {'connected_gene': 'CHST2', 'score': 9.71}, {'connected_gene': 'LOC105374137', 'score': 0.77}, {'connected_gene': 'PBX2P1', 'score': 0.26}]
chr3 GH03I143518 143518001 143518400 0.5 [{'connected_gene': 'ST13P15', 'score': 550.77}, {'connected_gene': 'CHST2', 'score': 7.4}, {'connected_gene': 'GC03P143515', 'score': 0.77}, {'connected_gene': 'SLC9A9', 'score': 0.06}]
chr3 GH03I143128 143128719 143128868 0.2 [{'connected_gene': 'GC03P143130', 'score': 550.77}, {'connected_gene': 'SLC9A9-AS1', 'score': 10.26}, {'connected_gene': 'CHST2', 'score': 8.97}, {'connected_gene': 'LOC105374137', 'score': 0.77}, {'connected_gene': 'ENSG00000241679', 'score': 0.44}]