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
ENST00000382071 [[24881303, 24881366], [24890119, 24890307], [24892955, 24893018], [24895133, 24896673]] [[24890141, 24890307], [24892955, 24893018], [24895133, 24895906]]
ENST00000332018 [[24883715, 24883754], [24890119, 24890307], [24892955, 24893018], [24895133, 24896673]] [[24890141, 24890307], [24892955, 24893018], [24895133, 24895906]]
NM_001303138 [[24881303, 24881366], [24890119, 24890307], [24892955, 24893018], [24895133, 24896669]] [[24890141, 24890307], [24892955, 24893018], [24895133, 24895906]]
NM_178540 [[24883715, 24883754], [24890119, 24890307], [24892955, 24893018], [24895133, 24896669]] [[24890141, 24890307], [24892955, 24893018], [24895133, 24895906]]
NM_001303137 [[24883715, 24883754], [24889031, 24889115], [24890119, 24890307], [24892955, 24893018], [24895133, 24896669]] [[24890141, 24890307], [24892955, 24893018], [24895133, 24895906]]
Promoter
Chrom Start End Description
chr13 24553815 24553826 CAGE_peak_19_at_SPATA13_5end,CAGE_peak_4_at_C1QTNF9_5end
chr13 24883703 24883718 CAGE_peak_2_at_C1QTNF9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I023762 23762369 23764047 0.2 [{'connected_gene': 'TNFRSF19', 'score': 9.4}, {'connected_gene': 'C1QTNF9', 'score': 7.12}, {'connected_gene': 'MIPEP', 'score': 6.81}, {'connected_gene': 'MTCO3P2', 'score': 0.77}, {'connected_gene': 'PIR57166', 'score': 0.25}]
chr13 GH13I023769 23769183 23772824 0.96 [{'connected_gene': 'MIPEP', 'score': 10.5}, {'connected_gene': 'TNFRSF19', 'score': 9.62}, {'connected_gene': 'C1QTNF9', 'score': 4.75}, {'connected_gene': 'MTCO3P2', 'score': 0.77}, {'connected_gene': 'PCOTH', 'score': 0.13}]
chr13 GH13I023887 23887795 23890292 2.03 [{'connected_gene': 'MIPEP', 'score': 562.0}, {'connected_gene': 'PCOTH', 'score': 550.77}, {'connected_gene': 'C1QTNF9', 'score': 43.24}]
chr13 GH13I023749 23749870 23755311 1.19 [{'connected_gene': 'MIPEP', 'score': 9.38}, {'connected_gene': 'C1QTNF9', 'score': 4.77}, {'connected_gene': 'MTCO3P2', 'score': 0.39}, {'connected_gene': 'PIR57166', 'score': 0.28}]
chr13 GH13I023903 23903201 23903800 0.31 [{'connected_gene': 'C1QTNF9B', 'score': 550.77}, {'connected_gene': 'C1QTNF9', 'score': 15.23}, {'connected_gene': 'MIPEP', 'score': 9.63}, {'connected_gene': 'PIR57853', 'score': 0.26}]
chr13 GH13I023805 23805792 23808699 0.95 [{'connected_gene': 'C1QTNF9', 'score': 27.18}, {'connected_gene': 'TNFRSF19', 'score': 9.14}, {'connected_gene': 'MIPEP', 'score': 8.74}, {'connected_gene': 'MTCO3P2', 'score': 0.26}, {'connected_gene': 'PCOTH', 'score': 0.18}]
chr13 GH13I023848 23848162 23849490 0.31 [{'connected_gene': 'C1QTNF9', 'score': 28.33}, {'connected_gene': 'MIPEP', 'score': 11.67}, {'connected_gene': 'TNFRSF19', 'score': 9.96}, {'connected_gene': 'PCOTH', 'score': 0.26}, {'connected_gene': 'MTCO3P2', 'score': 0.18}]
chr13 GH13I023866 23866304 23869579 1.14 [{'connected_gene': 'C1QTNF9', 'score': 39.85}, {'connected_gene': 'MIPEP', 'score': 21.1}, {'connected_gene': 'PCOTH', 'score': 11.96}, {'connected_gene': 'C1QTNF9B', 'score': 11.91}, {'connected_gene': 'TNFRSF19', 'score': 10.34}, {'connected_gene': 'MTCO3P2', 'score': 0.15}]
chr13 GH13I023899 23899702 23900000 0.74 [{'connected_gene': 'C1QTNF9', 'score': 14.37}, {'connected_gene': 'MIPEP', 'score': 10.34}, {'connected_gene': 'C1QTNF9B', 'score': 0.77}]
chr13 GH13I023897 23897506 23899369 0.38 [{'connected_gene': 'C1QTNF9', 'score': 38.58}, {'connected_gene': 'MIPEP', 'score': 10.6}, {'connected_gene': 'C1QTNF9B', 'score': 0.77}]
chr13 GH13I023722 23722382 23725476 0.63 [{'connected_gene': 'C1QTNF9', 'score': 19.01}, {'connected_gene': 'MIPEP', 'score': 5.37}, {'connected_gene': 'LOC105370113', 'score': 0.44}, {'connected_gene': 'PIR57166', 'score': 0.44}, {'connected_gene': 'MTCO3P2', 'score': 0.26}]
chr13 GH13I023719 23719126 23719779 0.43 [{'connected_gene': 'C1QTNF9', 'score': 6.68}, {'connected_gene': 'MIPEP', 'score': 4.96}, {'connected_gene': 'LOC105370113', 'score': 0.77}, {'connected_gene': 'PIR57166', 'score': 0.77}, {'connected_gene': 'MTCO3P2', 'score': 0.25}]
chr13 GH13I023792 23792629 23797485 1.18 [{'connected_gene': 'C1QTNF9', 'score': 26.39}, {'connected_gene': 'MIPEP', 'score': 8.97}, {'connected_gene': 'MTCO3P2', 'score': 0.31}, {'connected_gene': 'PCOTH', 'score': 0.16}]
chr13 GH13I023799 23799132 23801644 1.04 [{'connected_gene': 'C1QTNF9', 'score': 21.57}, {'connected_gene': 'MIPEP', 'score': 8.56}, {'connected_gene': 'MTCO3P2', 'score': 0.29}, {'connected_gene': 'PCOTH', 'score': 0.17}]
chr13 GH13I023776 23776705 23779221 1.04 [{'connected_gene': 'C1QTNF9', 'score': 24.43}, {'connected_gene': 'MIPEP', 'score': 10.27}, {'connected_gene': 'MTCO3P2', 'score': 0.39}, {'connected_gene': 'PCOTH', 'score': 0.14}]
chr13 GH13I024309 24309531 24309590 0.5 [{'connected_gene': 'C1QTNF9', 'score': 550.77}, {'connected_gene': 'C1QTNF9-AS1', 'score': 0.39}, {'connected_gene': 'ENSG00000273167', 'score': 0.05}]
chr13 GH13I024282 24282363 24282512 0.51 [{'connected_gene': 'C1QTNF9', 'score': 0.34}, {'connected_gene': 'SPATA13-AS1', 'score': 0.31}, {'connected_gene': 'SPATA13', 'score': 0.06}, {'connected_gene': 'ENSG00000273167', 'score': 0.06}]
chr13 GH13I023810 23810581 23812636 0.63 [{'connected_gene': 'C1QTNF9', 'score': 26.64}, {'connected_gene': 'MTCO3P2', 'score': 0.25}, {'connected_gene': 'MIPEP', 'score': 0.18}, {'connected_gene': 'PCOTH', 'score': 0.18}]
chr13 GH13I024348 24348293 24349906 0.52 [{'connected_gene': 'C1QTNF9', 'score': 13.6}, {'connected_gene': 'LINC00566', 'score': 0.37}, {'connected_gene': 'CYCSP33', 'score': 0.23}]
chr13 GH13I023447 23447587 23451347 0.77 [{'connected_gene': 'C1QTNF9', 'score': 4.83}, {'connected_gene': 'LINC00327', 'score': 0.37}, {'connected_gene': 'SACS', 'score': 0.37}]
chr13 GH13I024299 24299794 24301251 0.31 [{'connected_gene': 'SPATA13', 'score': 7.53}, {'connected_gene': 'C1QTNF9', 'score': 0.44}, {'connected_gene': 'SPATA13-AS1', 'score': 0.25}, {'connected_gene': 'ENSG00000273167', 'score': 0.05}]
chr13 GH13I024279 24279002 24281648 1.13 [{'connected_gene': 'SPATA13', 'score': 6.43}, {'connected_gene': 'PARP4', 'score': 2.22}, {'connected_gene': 'C1QTNF9', 'score': 0.31}, {'connected_gene': 'SPATA13-AS1', 'score': 0.31}, {'connected_gene': 'ENSG00000273167', 'score': 0.06}]
chr13 GH13I024293 24293295 24295205 0.2 [{'connected_gene': 'SPATA13', 'score': 18.71}, {'connected_gene': 'SPATA13-AS1', 'score': 11.6}, {'connected_gene': 'TPTE2P6', 'score': 5.28}, {'connected_gene': 'C1QTNF9', 'score': 0.39}, {'connected_gene': 'ENSG00000273167', 'score': 0.06}]
chr13 GH13I024269 24269875 24277172 2.49 [{'connected_gene': 'SPATA13', 'score': 556.02}, {'connected_gene': 'IPO7P2', 'score': 10.49}, {'connected_gene': 'TPTE2P6', 'score': 10.15}, {'connected_gene': 'PARP4', 'score': 3.25}, {'connected_gene': 'SPATA13-AS1', 'score': 0.37}, {'connected_gene': 'C1QTNF9', 'score': 0.29}, {'connected_gene': 'ENSG00000273167', 'score': 0.06}]
chr13 GH13I024262 24262653 24268932 1.24 [{'connected_gene': 'PARP4', 'score': 10.7}, {'connected_gene': 'SPATA13-AS1', 'score': 0.39}, {'connected_gene': 'C1QTNF9', 'score': 0.26}, {'connected_gene': 'SPATA13', 'score': 0.06}, {'connected_gene': 'ENSG00000273167', 'score': 0.06}]
chr13 GH13I024328 24328401 24328799 0.2 [{'connected_gene': 'NUS1P3', 'score': 550.77}, {'connected_gene': 'GC13P024328', 'score': 550.77}, {'connected_gene': 'C1QTNF9', 'score': 15.94}, {'connected_gene': 'MTMR6', 'score': 4.89}]
chr13 GH13I024502 24502307 24503731 0.82 [{'connected_gene': 'LOC105370117', 'score': 550.77}, {'connected_gene': 'PARP4', 'score': 11.28}, {'connected_gene': 'C1QTNF9', 'score': 5.2}, {'connected_gene': 'TPTE2P6', 'score': 0.16}]
chr13 GH13I024277 24277355 24278592 0.2 [{'connected_gene': 'SPATA13-AS1', 'score': 0.34}, {'connected_gene': 'C1QTNF9', 'score': 0.31}, {'connected_gene': 'SPATA13', 'score': 0.06}, {'connected_gene': 'ENSG00000273167', 'score': 0.06}]
chr13 GH13I024289 24289083 24289132 0.4 [{'connected_gene': 'SPATA13-AS1', 'score': 11.27}, {'connected_gene': 'SPATA13', 'score': 11.04}, {'connected_gene': 'C1QTNF9', 'score': 0.37}, {'connected_gene': 'ENSG00000273167', 'score': 0.06}]
chr13 GH13I024258 24258526 24259612 0.4 [{'connected_gene': 'MIR2276', 'score': 10.49}, {'connected_gene': 'SPATA13', 'score': 10.4}, {'connected_gene': 'SPATA13-AS1', 'score': 0.77}, {'connected_gene': 'C1QTNF9', 'score': 0.25}, {'connected_gene': 'ENSG00000273167', 'score': 0.06}]
chr13 GH13I024260 24260818 24261935 0.88 [{'connected_gene': 'MIR2276', 'score': 10.49}, {'connected_gene': 'SPATA13', 'score': 10.4}, {'connected_gene': 'SPATA13-AS1', 'score': 0.44}, {'connected_gene': 'C1QTNF9', 'score': 0.25}, {'connected_gene': 'ENSG00000273167', 'score': 0.06}]
chr13 GH13I024259 24259813 24260589 0.2 [{'connected_gene': 'MIR2276', 'score': 10.49}, {'connected_gene': 'SPATA13', 'score': 10.4}, {'connected_gene': 'SPATA13-AS1', 'score': 0.44}, {'connected_gene': 'C1QTNF9', 'score': 0.25}, {'connected_gene': 'ENSG00000273167', 'score': 0.06}]