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
ENST00000322349 [[93164412, 93169909], [93170619, 93170718], [93171318, 93171439], [93171716, 93171955], [93172890, 93173076], [93174055, 93174187], [93175725, 93175911], [93181642, 93181825], [93192667, 93192862], [93195375, 93195477], [93196179, 93196510], [93202792, 93202932], [93205054, 93205210], [93206755, 93206869], [93209975, 93210176], [93213083, 93213287], [93219941, 93220061], [93221687, 93221837], [93226287, 93226626], [93236240, 93236357], [93244886, 93245042], [93245950, 93246072], [93246687, 93246801], [93247690, 93247730], [93251050, 93251116], [93251206, 93251261], [93258635, 93258763], [93285404, 93285497], [93322818, 93323107]] [[93169786, 93169909], [93170619, 93170718], [93171318, 93171439], [93171716, 93171955], [93172890, 93173076], [93174055, 93174187], [93175725, 93175911], [93181642, 93181825], [93192667, 93192862], [93195375, 93195477], [93196179, 93196510], [93202792, 93202932], [93205054, 93205210], [93206755, 93206869], [93209975, 93210176], [93213083, 93213287], [93219941, 93220061], [93221687, 93221837], [93226287, 93226626], [93236240, 93236357], [93244886, 93245042], [93245950, 93246072], [93246687, 93246801], [93247690, 93247730], [93251050, 93251116], [93251206, 93251261], [93258635, 93258763], [93285404, 93285497], [93322818, 93322842]]
ENST00000418984 [[93196440, 93196510], [93202792, 93202932], [93205054, 93205210], [93206755, 93206869], [93209975, 93210176], [93213083, 93213287], [93219941, 93220061], [93221687, 93221837], [93226287, 93226626], [93236240, 93236357], [93244886, 93245042], [93245950, 93246072], [93246687, 93246801], [93247690, 93247730], [93251050, 93251116], [93251206, 93251261], [93285404, 93285497], [93322818, 93323103]] [[93251255, 93251261], [93285404, 93285497], [93322818, 93322842]]
ENST00000549790 [[93206779, 93206869], [93209975, 93210176], [93213083, 93213287], [93214828, 93214875]] [[93206779, 93206869], [93209975, 93210013]]
ENST00000547833 [[93251221, 93251261], [93258635, 93258763], [93285404, 93285497], [93299261, 93299372], [93322818, 93323107]] None
ENST00000553019 [[93258635, 93258763], [93273022, 93273139], [93285404, 93285497], [93322818, 93323038]] [[93273124, 93273139], [93285404, 93285497], [93322818, 93322842]]
NM_003566 [[93166284, 93169909], [93170619, 93170718], [93171318, 93171439], [93171716, 93171955], [93172890, 93173076], [93174055, 93174187], [93175725, 93175911], [93181642, 93181825], [93192667, 93192862], [93195375, 93195477], [93196179, 93196510], [93202792, 93202932], [93205054, 93205210], [93206755, 93206869], [93209975, 93210176], [93213083, 93213287], [93219941, 93220061], [93221687, 93221837], [93226287, 93226626], [93236240, 93236357], [93244886, 93245042], [93245950, 93246072], [93246687, 93246801], [93247690, 93247730], [93251050, 93251116], [93251206, 93251261], [93258635, 93258763], [93285404, 93285497], [93322818, 93323107]] [[93169786, 93169909], [93170619, 93170718], [93171318, 93171439], [93171716, 93171955], [93172890, 93173076], [93174055, 93174187], [93175725, 93175911], [93181642, 93181825], [93192667, 93192862], [93195375, 93195477], [93196179, 93196510], [93202792, 93202932], [93205054, 93205210], [93206755, 93206869], [93209975, 93210176], [93213083, 93213287], [93219941, 93220061], [93221687, 93221837], [93226287, 93226626], [93236240, 93236357], [93244886, 93245042], [93245950, 93246072], [93246687, 93246801], [93247690, 93247730], [93251050, 93251116], [93251206, 93251261], [93258635, 93258763], [93285404, 93285497], [93322818, 93322842]]
Promoter
Chrom Start End Description
chr12 93167819 93167833 CAGE_peak_2_at_EEA1_5end
chr12 93322925 93322936 CAGE_peak_3_at_EEA1_5end
chr12 93323013 93323112 CAGE_peak_1_at_EEA1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I093760 93760971 93763217 1.17 [{'connected_gene': 'SOCS2', 'score': 10.93}, {'connected_gene': 'ENSG00000271382', 'score': 10.46}, {'connected_gene': 'EEA1', 'score': 10.23}, {'connected_gene': 'GC12M093698', 'score': 0.37}, {'connected_gene': 'GC12P093788', 'score': 0.31}, {'connected_gene': 'CRADD', 'score': 0.18}]
chr12 GH12I093428 93428001 93428201 0.57 [{'connected_gene': 'EEA1', 'score': 10.15}, {'connected_gene': 'SOCS2', 'score': 6.24}, {'connected_gene': 'GC12M093281', 'score': 0.37}, {'connected_gene': 'UBE2N', 'score': 0.37}, {'connected_gene': 'GC12P093160', 'score': 0.06}]
chr12 GH12I093001 93001954 93003796 0.98 [{'connected_gene': 'EEA1', 'score': 10.6}, {'connected_gene': 'UBE2N', 'score': 9.79}, {'connected_gene': 'LINC02413', 'score': 0.39}, {'connected_gene': 'GC12P093022', 'score': 0.37}, {'connected_gene': 'ENSG00000257322', 'score': 0.08}, {'connected_gene': 'LOC643339', 'score': 0.05}]
chr12 GH12I093429 93428400 93429000 0.38 [{'connected_gene': 'EEA1', 'score': 10.15}, {'connected_gene': 'UBE2N', 'score': 0.39}, {'connected_gene': 'GC12M093281', 'score': 0.37}, {'connected_gene': 'GC12P093160', 'score': 0.06}]
chr12 GH12I092871 92871201 92871800 0.2 [{'connected_gene': 'EEA1', 'score': 6.43}, {'connected_gene': 'HNRNPA1P50', 'score': 0.39}, {'connected_gene': 'LOC100287544', 'score': 0.39}]
chr12 GH12I092753 92753967 92754740 0.43 [{'connected_gene': 'EEA1', 'score': 15.65}, {'connected_gene': 'PLEKHG7', 'score': 15.47}, {'connected_gene': 'C12orf74', 'score': 10.9}, {'connected_gene': 'GC12M092788', 'score': 0.29}]
chr12 GH12I092675 92675014 92676162 0.46 [{'connected_gene': 'EEA1', 'score': 4.6}, {'connected_gene': 'C12orf74', 'score': 0.31}, {'connected_gene': 'LOC105369905', 'score': 0.13}]
chr12 GH12I093183 93183713 93185799 1.08 [{'connected_gene': 'EEA1', 'score': 14.28}, {'connected_gene': 'MRPL42', 'score': 10.62}, {'connected_gene': 'ENSG00000257322', 'score': 6.19}, {'connected_gene': 'LINC02412', 'score': 0.39}, {'connected_gene': 'GC12P093160', 'score': 0.34}, {'connected_gene': 'GC12P093215', 'score': 0.29}, {'connected_gene': 'GC12M093152', 'score': 0.18}, {'connected_gene': 'LOC643339', 'score': 0.08}]
chr12 GH12I092898 92898402 92901495 1.03 [{'connected_gene': 'EEA1', 'score': 17.87}, {'connected_gene': 'RNU6-1329P', 'score': 11.17}, {'connected_gene': 'UBE2N', 'score': 5.17}, {'connected_gene': 'HNRNPA1P50', 'score': 0.37}]
chr12 GH12I092926 92926450 92930988 2.59 [{'connected_gene': 'EEA1', 'score': 556.92}, {'connected_gene': 'RNU6-1329P', 'score': 12.0}, {'connected_gene': 'HNRNPA1P50', 'score': 0.25}]
chr12 GH12I092968 92968148 92969360 0.52 [{'connected_gene': 'EEA1', 'score': 11.55}, {'connected_gene': 'RNU6-1329P', 'score': 0.37}, {'connected_gene': 'LINC02413', 'score': 0.34}]
chr12 GH12I092970 92970532 92974893 1.12 [{'connected_gene': 'EEA1', 'score': 11.54}, {'connected_gene': 'LINC02413', 'score': 0.37}, {'connected_gene': 'RNU6-1329P', 'score': 0.34}]
chr12 GH12I093196 93196941 93198874 0.82 [{'connected_gene': 'EEA1', 'score': 9.69}, {'connected_gene': 'ENSG00000257322', 'score': 6.28}, {'connected_gene': 'GC12P093215', 'score': 0.37}, {'connected_gene': 'LINC02412', 'score': 0.34}, {'connected_gene': 'GC12P093160', 'score': 0.28}, {'connected_gene': 'GC12M093152', 'score': 0.2}, {'connected_gene': 'LOC643339', 'score': 0.1}]
chr12 GH12I092769 92769001 92770016 0.79 [{'connected_gene': 'EEA1', 'score': 5.13}, {'connected_gene': 'LOC101928731', 'score': 4.48}, {'connected_gene': 'GC12M092788', 'score': 0.37}, {'connected_gene': 'PLEKHG7', 'score': 0.25}]
chr12 GH12I092784 92784087 92785026 0.56 [{'connected_gene': 'UBE2N', 'score': 5.05}, {'connected_gene': 'GC12M092788', 'score': 0.77}, {'connected_gene': 'PLEKHG7', 'score': 0.21}, {'connected_gene': 'EEA1', 'score': 0.11}]
chr12 GH12I092883 92883348 92883720 0.26 [{'connected_gene': 'HNRNPA1P50', 'score': 550.77}, {'connected_gene': 'EEA1', 'score': 6.06}, {'connected_gene': 'LOC100287544', 'score': 0.31}]
chr12 GH12I092908 92908001 92908200 0.31 [{'connected_gene': 'HNRNPA1P50', 'score': 0.34}, {'connected_gene': 'EEA1', 'score': 0.34}]
chr12 GH12I092879 92879723 92880574 0.71 [{'connected_gene': 'HNRNPA1P50', 'score': 0.77}, {'connected_gene': 'LOC100287544', 'score': 0.34}, {'connected_gene': 'EEA1', 'score': 0.25}]
chr12 GH12I092870 92870801 92871000 0.2 [{'connected_gene': 'HNRNPA1P50', 'score': 0.39}, {'connected_gene': 'LOC100287544', 'score': 0.39}, {'connected_gene': 'EEA1', 'score': 0.22}]
chr12 GH12I092513 92513449 92513633 0.29 [{'connected_gene': 'BTG1', 'score': 4.58}, {'connected_gene': 'EEA1', 'score': 1.76}, {'connected_gene': 'LOC105369904', 'score': 0.44}, {'connected_gene': 'LOC100132126', 'score': 0.37}]
chr12 GH12I092519 92519374 92519493 0.26 [{'connected_gene': 'BTG1', 'score': 3.9}, {'connected_gene': 'EEA1', 'score': 1.61}, {'connected_gene': 'LOC105369904', 'score': 0.39}, {'connected_gene': 'LOC100132126', 'score': 0.39}]
chr12 GH12I092130 92130601 92150856 3.23 [{'connected_gene': 'BTG1', 'score': 575.8}, {'connected_gene': 'EEA1', 'score': 11.03}, {'connected_gene': 'GC12P092143', 'score': 0.77}, {'connected_gene': 'LOC101928617', 'score': 0.77}, {'connected_gene': 'LINC01619', 'score': 0.77}, {'connected_gene': 'GC12P092067', 'score': 0.19}, {'connected_gene': 'LINC02391', 'score': 0.07}]
chr12 GH12I092601 92601324 92604545 1.5 [{'connected_gene': 'BTG1', 'score': 5.97}, {'connected_gene': 'UBE2N', 'score': 5.29}, {'connected_gene': 'LOC100287544', 'score': 5.08}, {'connected_gene': 'EEA1', 'score': 1.83}, {'connected_gene': 'LOC105369905', 'score': 0.25}, {'connected_gene': 'C12orf74', 'score': 0.15}]
chr12 GH12I092568 92568700 92570894 1.51 [{'connected_gene': 'BTG1', 'score': 3.92}, {'connected_gene': 'CLLU1OS', 'score': 1.59}, {'connected_gene': 'EEA1', 'score': 1.41}, {'connected_gene': 'LOC105369905', 'score': 0.39}, {'connected_gene': 'C12orf74', 'score': 0.12}]
chr12 GH12I092515 92515890 92517034 0.61 [{'connected_gene': 'BTG1', 'score': 3.47}, {'connected_gene': 'CLLU1OS', 'score': 1.6}, {'connected_gene': 'EEA1', 'score': 1.42}, {'connected_gene': 'LOC105369904', 'score': 0.39}, {'connected_gene': 'LOC100132126', 'score': 0.39}]
chr12 GH12I092549 92549577 92560095 1.6 [{'connected_gene': 'BTG1', 'score': 16.08}, {'connected_gene': 'LOC101928617', 'score': 10.7}, {'connected_gene': 'EEA1', 'score': 1.95}, {'connected_gene': 'LOC105369905', 'score': 0.77}, {'connected_gene': 'LOC100132126', 'score': 0.34}]
chr12 GH12I092442 92442601 92448407 1.52 [{'connected_gene': 'CLLU1', 'score': 12.08}, {'connected_gene': 'LINC02397', 'score': 12.08}, {'connected_gene': 'C12orf74', 'score': 8.1}, {'connected_gene': 'BTG1', 'score': 7.19}, {'connected_gene': 'ENSG00000257252', 'score': 4.46}, {'connected_gene': 'EEA1', 'score': 2.12}, {'connected_gene': 'CLLU1OS', 'score': 1.52}, {'connected_gene': 'ENSG00000266923', 'score': 0.34}]
chr12 GH12I092649 92649439 92650634 1.21 [{'connected_gene': 'CLLU1OS', 'score': 1.61}, {'connected_gene': 'EEA1', 'score': 1.36}, {'connected_gene': 'C12orf74', 'score': 0.23}, {'connected_gene': 'LOC105369905', 'score': 0.16}]
chr12 GH12I092744 92744824 92747432 0.89 [{'connected_gene': 'PLEKHG7', 'score': 12.13}, {'connected_gene': 'C12orf74', 'score': 10.2}, {'connected_gene': 'EEA1', 'score': 5.24}, {'connected_gene': 'UBE2N', 'score': 4.76}, {'connected_gene': 'GC12M092788', 'score': 0.26}]
chr12 GH12I092845 92845156 92846085 0.31 [{'connected_gene': 'PLEKHG7', 'score': 5.6}, {'connected_gene': 'LOC100287544', 'score': 0.39}, {'connected_gene': 'GC12M092788', 'score': 0.22}, {'connected_gene': 'EEA1', 'score': 0.18}]
chr12 GH12I092994 92994877 92996647 0.64 [{'connected_gene': 'C12orf74', 'score': 9.94}, {'connected_gene': 'EEA1', 'score': 5.05}, {'connected_gene': 'LINC02413', 'score': 0.44}, {'connected_gene': 'GC12P093022', 'score': 0.31}]
chr12 GH12I092592 92592399 92599074 1.65 [{'connected_gene': 'C12orf74', 'score': 10.23}, {'connected_gene': 'BTG1', 'score': 8.38}, {'connected_gene': 'UBE2N', 'score': 5.31}, {'connected_gene': 'LOC100287544', 'score': 5.02}, {'connected_gene': 'EEA1', 'score': 1.95}, {'connected_gene': 'LOC105369905', 'score': 0.28}]
chr12 GH12I092771 92771201 92771600 0.31 [{'connected_gene': 'C12orf74', 'score': 10.31}, {'connected_gene': 'GC12M092788', 'score': 0.37}, {'connected_gene': 'PLEKHG7', 'score': 0.25}, {'connected_gene': 'EEA1', 'score': 0.1}]
chr12 GH12I093425 93425249 93427911 0.6 [{'connected_gene': 'MRPL42', 'score': 14.51}, {'connected_gene': 'EEA1', 'score': 10.15}, {'connected_gene': 'SOCS2', 'score': 6.24}, {'connected_gene': 'ENSG00000257252', 'score': 5.92}, {'connected_gene': 'GC12M093281', 'score': 0.39}, {'connected_gene': 'UBE2N', 'score': 0.37}, {'connected_gene': 'GC12P093160', 'score': 0.06}]
chr12 GH12I093569 93569173 93574282 2.31 [{'connected_gene': 'SOCS2-AS1', 'score': 550.77}, {'connected_gene': 'SOCS2', 'score': 550.77}, {'connected_gene': 'ENSG00000271382', 'score': 10.42}, {'connected_gene': 'EEA1', 'score': 10.24}]
chr12 GH12I092911 92911001 92913248 1.13 [{'connected_gene': 'RNU6-1329P', 'score': 11.05}, {'connected_gene': 'EEA1', 'score': 7.12}, {'connected_gene': 'PLEKHG7', 'score': 5.39}, {'connected_gene': 'CLLU1OS', 'score': 2.33}, {'connected_gene': 'HNRNPA1P50', 'score': 0.31}]
chr12 GH12I092987 92987103 92990551 1.38 [{'connected_gene': 'LINC02413', 'score': 550.77}, {'connected_gene': 'EEA1', 'score': 11.08}, {'connected_gene': 'HNRNPA1P50', 'score': 10.63}, {'connected_gene': 'UBE2N', 'score': 10.25}, {'connected_gene': 'ENSG00000271382', 'score': 10.05}, {'connected_gene': 'C12orf74', 'score': 9.95}, {'connected_gene': 'RNU6-1329P', 'score': 0.28}]
chr12 GH12I092501 92501865 92507381 1.65 [{'connected_gene': 'LOC105369904', 'score': 550.77}, {'connected_gene': 'BTG1', 'score': 6.25}, {'connected_gene': 'CLLU1', 'score': 2.35}, {'connected_gene': 'EEA1', 'score': 1.8}, {'connected_gene': 'LINC02397', 'score': 0.28}]
chr12 GH12I093098 93098145 93098401 1.02 [{'connected_gene': 'LOC101928617', 'score': 10.6}, {'connected_gene': 'ENSG00000271382', 'score': 10.4}, {'connected_gene': 'EEA1', 'score': 10.31}, {'connected_gene': 'LOC105369908', 'score': 0.77}, {'connected_gene': 'ENSG00000257746', 'score': 0.44}, {'connected_gene': 'GC12M093115', 'score': 0.37}, {'connected_gene': 'ENSG00000257322', 'score': 0.13}, {'connected_gene': 'LOC643339', 'score': 0.06}]
chr12 GH12I092537 92537345 92548961 1.64 [{'connected_gene': 'LINC02397', 'score': 11.84}, {'connected_gene': 'CLLU1OS', 'score': 11.79}, {'connected_gene': 'BTG1', 'score': 6.06}, {'connected_gene': 'CLLU1', 'score': 2.09}, {'connected_gene': 'EEA1', 'score': 1.3}, {'connected_gene': 'LOC105369905', 'score': 0.39}, {'connected_gene': 'LOC100132126', 'score': 0.39}]
chr12 GH12I092829 92829805 92829954 0.2 [{'connected_gene': 'LOC100287544', 'score': 0.31}, {'connected_gene': 'GC12M092788', 'score': 0.26}, {'connected_gene': 'EEA1', 'score': 0.15}]
chr12 GH12I093917 93917105 93919032 1.06 [{'connected_gene': 'GC12M093915', 'score': 550.77}, {'connected_gene': 'EEA1', 'score': 13.2}, {'connected_gene': 'RBMS2P1', 'score': 10.57}, {'connected_gene': 'SOCS2', 'score': 3.51}, {'connected_gene': 'LOC105369911', 'score': 0.31}]
chr12 GH12I093368 93368393 93368773 0.64 [{'connected_gene': 'GC12P093369', 'score': 550.77}, {'connected_gene': 'GC12P093368', 'score': 550.77}, {'connected_gene': 'EEA1', 'score': 9.74}, {'connected_gene': 'ENSG00000257252', 'score': 0.44}, {'connected_gene': 'LOC643339', 'score': 0.44}, {'connected_gene': 'GC12M093281', 'score': 0.26}, {'connected_gene': 'GC12P093160', 'score': 0.08}]
chr12 GH12I093366 93366051 93366324 0.2 [{'connected_gene': 'GC12P093367', 'score': 550.77}, {'connected_gene': 'GC12P093369', 'score': 550.77}, {'connected_gene': 'GC12P093365', 'score': 550.77}, {'connected_gene': 'EEA1', 'score': 9.74}, {'connected_gene': 'ENSG00000257252', 'score': 0.39}, {'connected_gene': 'LOC643339', 'score': 0.39}, {'connected_gene': 'GC12M093281', 'score': 0.25}, {'connected_gene': 'GC12P093160', 'score': 0.08}]
chr12 GH12I093242 93242716 93246594 1.22 [{'connected_gene': 'ENSG00000271382', 'score': 10.4}, {'connected_gene': 'EEA1', 'score': 10.27}, {'connected_gene': 'ENSG00000257252', 'score': 5.73}, {'connected_gene': 'PIR40965', 'score': 0.44}, {'connected_gene': 'GC12M093152', 'score': 0.34}, {'connected_gene': 'GC12P093267', 'score': 0.34}, {'connected_gene': 'GC12P093160', 'score': 0.18}, {'connected_gene': 'LOC643339', 'score': 0.12}]
chr12 GH12I093137 93137428 93139999 1.29 [{'connected_gene': 'GC12M093136', 'score': 550.77}, {'connected_gene': 'GC12M093135', 'score': 550.77}, {'connected_gene': 'GC12P093136', 'score': 550.77}, {'connected_gene': 'EEA1', 'score': 1.96}, {'connected_gene': 'GC12P093160', 'score': 0.34}, {'connected_gene': 'ENSG00000257322', 'score': 0.18}, {'connected_gene': 'LOC643339', 'score': 0.07}]
chr12 GH12I092933 92933531 92934439 0.31 [{'connected_gene': 'GC12M092931', 'score': 550.77}, {'connected_gene': 'EEA1', 'score': 5.62}, {'connected_gene': 'GC12P092931', 'score': 0.77}, {'connected_gene': 'GC12P092948', 'score': 0.39}]
chr12 GH12I092785 92785200 92785600 1.05 [{'connected_gene': 'GC12M092788', 'score': 0.77}, {'connected_gene': 'PLEKHG7', 'score': 0.21}, {'connected_gene': 'EEA1', 'score': 0.11}]

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