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
ENST00000591997 [[983173, 983250], [983961, 984186], [985864, 985975], [989761, 989895], [990222, 990292]] None
ENST00000251289 [[984330, 984563], [985864, 985975], [989761, 989895], [990222, 990364], [990851, 990995], [991080, 991145], [991226, 991351], [991954, 992121], [994018, 994087], [994211, 994569]] [[984353, 984563], [985864, 985975], [989761, 989895], [990222, 990364], [990851, 990995], [991080, 991145], [991226, 991351], [991954, 992121], [994018, 994087], [994211, 994343]]
ENST00000587001 [[984331, 984563], [985864, 985975], [989761, 989895], [990222, 990364], [990851, 990995], [991080, 991145], [991226, 991351], [991954, 992121], [994211, 994553]] [[984353, 984563], [985864, 985975], [989761, 989895], [990222, 990364], [990851, 990995], [991080, 991145], [991226, 991351], [991954, 992121], [994211, 994343]]
ENST00000586317 [[984340, 984563], [985864, 985975], [989761, 990258]] None
ENST00000607440 [[984357, 984563], [989761, 989895], [990222, 990364], [990851, 990995], [991080, 991145], [991226, 991351], [991954, 992121], [994018, 994087], [994211, 994553]] [[984357, 984563], [989761, 989895], [990222, 990364], [990851, 990995], [991080, 991145], [991226, 991351], [991954, 992121], [994018, 994087], [994211, 994343]]
ENST00000591985 [[984357, 984563], [985864, 985975], [989761, 989895], [990222, 990364], [990851, 990995], [991080, 991145], [991233, 991351], [991954, 992121], [994018, 994087], [994211, 994557]] [[984357, 984563], [985864, 985975], [989761, 989895], [990222, 990364], [990851, 990995], [991080, 991145], [991233, 991237]]
ENST00000585809 [[984384, 984563], [985864, 985975], [989761, 989895], [990222, 990364], [990958, 991145], [991226, 991352]] [[984384, 984563], [985864, 985975], [989761, 989895], [990222, 990364], [990958, 990961]]
ENST00000590397 [[985943, 985975], [989761, 990103], [990222, 990364], [990851, 990995], [991080, 991145], [991226, 991286]] [[985943, 985975], [989761, 989792]]
ENST00000591276 [[990646, 991145], [991226, 991334]] None
ENST00000590354 [[991233, 991351], [991994, 992121], [994018, 994087], [994211, 994556]] [[991233, 991351], [991994, 992002]]
ENST00000591155 [[994012, 994087], [994211, 994553]] None
NM_024100 [[984327, 984563], [985864, 985975], [989761, 989895], [990222, 990364], [990851, 990995], [991080, 991145], [991226, 991351], [991954, 992121], [994018, 994087], [994211, 994569]] [[984353, 984563], [985864, 985975], [989761, 989895], [990222, 990364], [990851, 990995], [991080, 991145], [991226, 991351], [991954, 992121], [994018, 994087], [994211, 994343]]
Promoter
Chrom Start End Description
chr19 984293 984304 CAGE_peak_2_at_WDR18_5end
chr19 984313 984357 CAGE_peak_1_at_WDR18_5end
chr19 984424 984435 CAGE_peak_3_at_WDR18_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I001019 1019005 1023409 2.35 [{'connected_gene': 'TMEM259', 'score': 630.81}, {'connected_gene': 'GC19P001025', 'score': 550.77}, {'connected_gene': 'RNU6-2', 'score': 550.77}, {'connected_gene': 'TCF3', 'score': 66.5}, {'connected_gene': 'LOC100288123', 'score': 66.36}, {'connected_gene': 'DAZAP1', 'score': 65.4}, {'connected_gene': 'GRIN3B', 'score': 54.23}, {'connected_gene': 'PTBP1', 'score': 52.04}, {'connected_gene': 'CIRBP', 'score': 50.16}, {'connected_gene': 'MED16', 'score': 50.13}, {'connected_gene': 'MIER2', 'score': 48.9}, {'connected_gene': 'ENSG00000267317', 'score': 36.34}, {'connected_gene': 'ABCA7', 'score': 29.92}, {'connected_gene': 'PALM', 'score': 28.37}, {'connected_gene': 'MUM1', 'score': 25.57}, {'connected_gene': 'ENSG00000261526', 'score': 23.95}, {'connected_gene': 'CNN2', 'score': 22.69}, {'connected_gene': 'WDR18', 'score': 22.0}, {'connected_gene': 'PLK5', 'score': 21.29}, {'connected_gene': 'RPS15', 'score': 20.64}, {'connected_gene': 'LOC105372232', 'score': 18.98}, {'connected_gene': 'ENSG00000267283', 'score': 18.69}, {'connected_gene': 'ENSG00000268798', 'score': 11.74}, {'connected_gene': 'MEX3D', 'score': 11.49}, {'connected_gene': 'POLRMT', 'score': 11.35}, {'connected_gene': 'RNF126', 'score': 10.56}, {'connected_gene': 'ATP8B3', 'score': 10.22}, {'connected_gene': 'SBNO2', 'score': 9.88}]
chr19 GH19I001542 1542702 1542851 0.87 [{'connected_gene': 'AP3D1', 'score': 12.98}, {'connected_gene': 'ADAMTSL5', 'score': 12.81}, {'connected_gene': 'WDR18', 'score': 12.53}, {'connected_gene': 'ATP8B3', 'score': 12.23}, {'connected_gene': 'REXO1', 'score': 12.22}, {'connected_gene': 'TCF3', 'score': 11.66}, {'connected_gene': 'GC19M001551', 'score': 0.44}, {'connected_gene': 'PLK5', 'score': 0.37}]
chr19 GH19I001647 1647146 1653766 2.31 [{'connected_gene': 'TCF3', 'score': 592.67}, {'connected_gene': 'SF3A2', 'score': 52.48}, {'connected_gene': 'LOC100288123', 'score': 38.58}, {'connected_gene': 'DAZAP1', 'score': 36.5}, {'connected_gene': 'DOT1L', 'score': 32.16}, {'connected_gene': 'TMEM259', 'score': 30.38}, {'connected_gene': 'STK11', 'score': 24.52}, {'connected_gene': 'CIRBP', 'score': 23.19}, {'connected_gene': 'AP3D1', 'score': 22.94}, {'connected_gene': 'MUM1', 'score': 22.46}, {'connected_gene': 'ATP8B3', 'score': 21.52}, {'connected_gene': 'GRIN3B', 'score': 20.44}, {'connected_gene': 'SPPL2B', 'score': 20.03}, {'connected_gene': 'CSNK1G2', 'score': 19.68}, {'connected_gene': 'MED16', 'score': 19.24}, {'connected_gene': 'PTBP1', 'score': 16.58}, {'connected_gene': 'ENSG00000267317', 'score': 14.21}, {'connected_gene': 'UQCR11', 'score': 12.76}, {'connected_gene': 'WDR18', 'score': 12.53}, {'connected_gene': 'RPS15', 'score': 11.85}, {'connected_gene': 'ENSG00000268798', 'score': 11.77}, {'connected_gene': 'PALM', 'score': 11.6}, {'connected_gene': 'PLK5', 'score': 10.78}, {'connected_gene': 'LMNB2', 'score': 10.08}, {'connected_gene': 'BTBD2', 'score': 10.07}, {'connected_gene': 'C19orf24', 'score': 9.92}, {'connected_gene': 'RNF126', 'score': 9.89}, {'connected_gene': 'GC19M001626', 'score': 0.37}]
chr19 GH19I000982 982486 985666 2.08 [{'connected_gene': 'WDR18', 'score': 627.17}, {'connected_gene': 'MUM1', 'score': 17.5}, {'connected_gene': 'CFD', 'score': 14.86}, {'connected_gene': 'CIRBP', 'score': 14.58}, {'connected_gene': 'DAZAP1', 'score': 12.19}, {'connected_gene': 'PALM', 'score': 10.5}, {'connected_gene': 'MIDN', 'score': 10.42}, {'connected_gene': 'CNN2', 'score': 10.05}, {'connected_gene': 'MIER2', 'score': 9.96}, {'connected_gene': 'GC19P000978', 'score': 0.44}, {'connected_gene': 'GC19M000980', 'score': 0.39}]
chr19 GH19I000942 942421 964263 1.8 [{'connected_gene': 'WDR18', 'score': 12.2}, {'connected_gene': 'DAZAP1', 'score': 12.18}, {'connected_gene': 'ARHGAP45', 'score': 11.96}, {'connected_gene': 'MIER2', 'score': 9.96}, {'connected_gene': 'ARID3A', 'score': 9.7}, {'connected_gene': 'KISS1R', 'score': 7.75}, {'connected_gene': 'SBNO2', 'score': 6.85}, {'connected_gene': 'ENSG00000267159', 'score': 6.41}, {'connected_gene': 'PALM', 'score': 5.77}, {'connected_gene': 'RPS15', 'score': 4.88}, {'connected_gene': 'MIDN', 'score': 4.11}, {'connected_gene': 'EFNA2', 'score': 3.61}, {'connected_gene': 'TMEM259', 'score': 1.65}, {'connected_gene': 'MADCAM1', 'score': 1.41}, {'connected_gene': 'ENSG00000275162', 'score': 0.77}, {'connected_gene': 'GC19P000962', 'score': 0.44}, {'connected_gene': 'GC19M000929', 'score': 0.37}]
chr19 GH19I000931 931740 935806 1.67 [{'connected_gene': 'WDR18', 'score': 8.82}, {'connected_gene': 'CNN2', 'score': 4.9}, {'connected_gene': 'R3HDM4', 'score': 4.87}, {'connected_gene': 'MIDN', 'score': 2.32}, {'connected_gene': 'CIRBP', 'score': 1.22}, {'connected_gene': 'ENSG00000267159', 'score': 0.77}, {'connected_gene': 'GC19M000929', 'score': 0.77}, {'connected_gene': 'ARID3A', 'score': 0.44}]
chr19 GH19I000985 985721 985870 0.2 [{'connected_gene': 'WDR18', 'score': 624.21}, {'connected_gene': 'PIR49775', 'score': 0.44}, {'connected_gene': 'GC19P000978', 'score': 0.44}, {'connected_gene': 'GC19M000980', 'score': 0.39}]
chr19 GH19I001065 1063002 1063600 0.94 [{'connected_gene': 'POLR2E', 'score': 15.2}, {'connected_gene': 'ABCA7', 'score': 11.41}, {'connected_gene': 'WDR18', 'score': 6.76}, {'connected_gene': 'ARHGAP45', 'score': 5.55}, {'connected_gene': 'GC19M001049', 'score': 0.39}]
chr19 GH19I001097 1097570 1114561 2.85 [{'connected_gene': 'GPX4', 'score': 571.75}, {'connected_gene': 'GC19P001105', 'score': 550.77}, {'connected_gene': 'GC19P001106', 'score': 550.77}, {'connected_gene': 'CIRBP', 'score': 44.77}, {'connected_gene': 'TMEM259', 'score': 30.42}, {'connected_gene': 'ENSG00000267283', 'score': 20.34}, {'connected_gene': 'LOC100288123', 'score': 18.77}, {'connected_gene': 'ENSG00000261526', 'score': 14.52}, {'connected_gene': 'MED16', 'score': 13.82}, {'connected_gene': 'TCF3', 'score': 13.73}, {'connected_gene': 'PTBP1', 'score': 12.78}, {'connected_gene': 'WDR18', 'score': 11.92}, {'connected_gene': 'GRIN3B', 'score': 11.23}, {'connected_gene': 'SCAMP4', 'score': 11.09}, {'connected_gene': 'RPS15', 'score': 10.6}, {'connected_gene': 'MEX3D', 'score': 10.13}, {'connected_gene': 'SBNO2', 'score': 7.19}, {'connected_gene': 'POLR2E', 'score': 6.8}, {'connected_gene': 'FSTL3', 'score': 6.12}, {'connected_gene': 'ABCA7', 'score': 5.12}, {'connected_gene': 'PLK5', 'score': 5.03}, {'connected_gene': 'MIDN', 'score': 4.08}, {'connected_gene': 'ARHGAP45', 'score': 2.32}]
chr19 GH19I001164 1164400 1174911 2.76 [{'connected_gene': 'SBNO2', 'score': 556.38}, {'connected_gene': 'LOC102725180', 'score': 550.77}, {'connected_gene': 'DAZAP1', 'score': 32.71}, {'connected_gene': 'LOC100288123', 'score': 31.96}, {'connected_gene': 'TMEM259', 'score': 26.44}, {'connected_gene': 'PTBP1', 'score': 24.56}, {'connected_gene': 'TCF3', 'score': 22.67}, {'connected_gene': 'MIER2', 'score': 22.32}, {'connected_gene': 'CIRBP', 'score': 21.82}, {'connected_gene': 'MED16', 'score': 18.76}, {'connected_gene': 'MEX3D', 'score': 14.21}, {'connected_gene': 'ENSG00000267317', 'score': 13.88}, {'connected_gene': 'RPS15', 'score': 11.56}, {'connected_gene': 'GRIN3B', 'score': 10.95}, {'connected_gene': 'DOT1L', 'score': 10.51}, {'connected_gene': 'POLRMT', 'score': 9.87}, {'connected_gene': 'AP3D1', 'score': 9.69}, {'connected_gene': 'GPX4', 'score': 6.44}, {'connected_gene': 'WDR18', 'score': 6.32}, {'connected_gene': 'ABCA7', 'score': 6.18}, {'connected_gene': 'CFD', 'score': 1.83}, {'connected_gene': 'ATP5F1D', 'score': 1.49}, {'connected_gene': 'LOC102723798', 'score': 0.44}]
chr19 GH19I001000 1000400 1000601 1.12 [{'connected_gene': 'GRIN3B', 'score': 550.77}, {'connected_gene': 'WDR18', 'score': 38.23}, {'connected_gene': 'ENSG00000266990', 'score': 0.77}]
chr19 GH19I001212 1212513 1219386 1.22 [{'connected_gene': 'CIRBP', 'score': 14.79}, {'connected_gene': 'ATP5F1D', 'score': 8.2}, {'connected_gene': 'WDR18', 'score': 6.18}, {'connected_gene': 'STK11', 'score': 5.76}, {'connected_gene': 'PIR41652', 'score': 0.77}, {'connected_gene': 'GC19M001234', 'score': 0.34}]
chr19 GH19I001008 1008390 1010689 0.85 [{'connected_gene': 'LOC105372235', 'score': 550.77}, {'connected_gene': 'ENSG00000274177', 'score': 550.77}, {'connected_gene': 'ABCA7', 'score': 29.97}, {'connected_gene': 'GRIN3B', 'score': 29.49}, {'connected_gene': 'DAZAP1', 'score': 15.21}, {'connected_gene': 'TMEM259', 'score': 14.41}, {'connected_gene': 'LOC100288123', 'score': 14.13}, {'connected_gene': 'TCF3', 'score': 13.87}, {'connected_gene': 'CIRBP', 'score': 12.85}, {'connected_gene': 'MIER2', 'score': 12.06}, {'connected_gene': 'MED16', 'score': 10.57}, {'connected_gene': 'WDR18', 'score': 10.29}, {'connected_gene': 'POLRMT', 'score': 9.89}, {'connected_gene': 'PTBP1', 'score': 9.79}]
chr19 GH19I001080 1080924 1083866 1.27 [{'connected_gene': 'ABCA7', 'score': 13.73}, {'connected_gene': 'POLR2E', 'score': 12.96}, {'connected_gene': 'ARHGAP45', 'score': 10.64}, {'connected_gene': 'WDR18', 'score': 7.86}, {'connected_gene': 'PIR52456', 'score': 0.77}]
chr19 GH19I001037 1037422 1043448 2.3 [{'connected_gene': 'ABCA7', 'score': 606.83}, {'connected_gene': 'ENSG00000279753', 'score': 550.77}, {'connected_gene': 'DAZAP1', 'score': 64.52}, {'connected_gene': 'CIRBP', 'score': 63.17}, {'connected_gene': 'TMEM259', 'score': 57.16}, {'connected_gene': 'LOC100288123', 'score': 53.12}, {'connected_gene': 'TCF3', 'score': 47.63}, {'connected_gene': 'PTBP1', 'score': 40.58}, {'connected_gene': 'GRIN3B', 'score': 36.18}, {'connected_gene': 'ENSG00000267317', 'score': 35.69}, {'connected_gene': 'POLRMT', 'score': 22.74}, {'connected_gene': 'MEX3D', 'score': 19.87}, {'connected_gene': 'MED16', 'score': 19.4}, {'connected_gene': 'MIER2', 'score': 18.82}, {'connected_gene': 'STK11', 'score': 15.29}, {'connected_gene': 'CNN2', 'score': 15.16}, {'connected_gene': 'ENSG00000261526', 'score': 12.06}, {'connected_gene': 'ENSG00000267283', 'score': 11.86}, {'connected_gene': 'RPS15', 'score': 11.83}, {'connected_gene': 'ATP8B3', 'score': 11.25}, {'connected_gene': 'SBNO2', 'score': 9.89}, {'connected_gene': 'WDR18', 'score': 6.82}, {'connected_gene': 'FGF22', 'score': 6.64}, {'connected_gene': 'GC19M001049', 'score': 0.44}]
chr19 GH19I000892 891841 894135 2.21 [{'connected_gene': 'MED16', 'score': 565.6}, {'connected_gene': 'GC19P000897', 'score': 550.77}, {'connected_gene': 'RNU6-9', 'score': 550.77}, {'connected_gene': 'WDR18', 'score': 12.66}, {'connected_gene': 'PIR31785', 'score': 0.37}, {'connected_gene': 'GC19M000880', 'score': 0.37}]
chr19 GH19I001360 1360059 1364671 1.11 [{'connected_gene': 'GC19P001362', 'score': 550.77}, {'connected_gene': 'MUM1', 'score': 38.9}, {'connected_gene': 'CIRBP', 'score': 22.12}, {'connected_gene': 'ENSG00000261526', 'score': 14.52}, {'connected_gene': 'WDR18', 'score': 11.84}, {'connected_gene': 'ENSG00000267283', 'score': 11.66}, {'connected_gene': 'SPPL2B', 'score': 10.72}, {'connected_gene': 'PALM', 'score': 10.47}, {'connected_gene': 'AP3D1', 'score': 10.35}, {'connected_gene': 'C19orf24', 'score': 5.28}, {'connected_gene': 'ENSG00000279488', 'score': 0.39}]
chr19 GH19I000995 995464 996954 1.41 [{'connected_gene': 'GC19M000980', 'score': 550.77}, {'connected_gene': 'WDR18', 'score': 65.49}, {'connected_gene': 'GZMM', 'score': 19.95}, {'connected_gene': 'MIER2', 'score': 13.08}, {'connected_gene': 'ARHGAP45', 'score': 5.2}, {'connected_gene': 'CIRBP', 'score': 4.46}, {'connected_gene': 'RNF126', 'score': 3.65}, {'connected_gene': 'TMEM259', 'score': 2.58}, {'connected_gene': 'ABCA7', 'score': 2.41}, {'connected_gene': 'PIR49775', 'score': 0.77}]
chr19 GH19I000992 992472 994011 0.85 [{'connected_gene': 'PIR49775', 'score': 550.77}, {'connected_gene': 'WDR18', 'score': 62.87}, {'connected_gene': 'GC19M000980', 'score': 0.77}, {'connected_gene': 'GC19P000978', 'score': 0.39}]
chr19 GH19I000993 991521 991690 0.46 [{'connected_gene': 'PIR49775', 'score': 550.77}, {'connected_gene': 'GC19M000980', 'score': 0.44}, {'connected_gene': 'WDR18', 'score': 0.44}, {'connected_gene': 'GC19P000978', 'score': 0.39}]
chr19 GH19I000769 769793 770709 1.16 [{'connected_gene': 'GC19P000771', 'score': 550.77}, {'connected_gene': 'WDR18', 'score': 12.58}, {'connected_gene': 'GC19P000763', 'score': 0.44}]
chr19 GH19I000979 979161 981202 1.23 [{'connected_gene': 'GC19P000978', 'score': 550.77}, {'connected_gene': 'WDR18', 'score': 11.68}, {'connected_gene': 'GC19M000980', 'score': 0.37}]
chr19 GH19I000991 991761 991790 0.2 [{'connected_gene': 'PIR49775', 'score': 550.77}, {'connected_gene': 'GC19M000980', 'score': 0.44}, {'connected_gene': 'WDR18', 'score': 0.44}, {'connected_gene': 'GC19P000978', 'score': 0.39}]
chr19 GH19I000994 991281 991350 0.56 [{'connected_gene': 'PIR49775', 'score': 550.77}, {'connected_gene': 'GC19M000980', 'score': 0.44}, {'connected_gene': 'WDR18', 'score': 0.44}, {'connected_gene': 'GC19P000978', 'score': 0.39}]
chr19 GH19I001211 1211168 1212371 0.89 [{'connected_gene': 'PIR41652', 'score': 550.77}, {'connected_gene': 'ATP5F1D', 'score': 6.08}, {'connected_gene': 'WDR18', 'score': 5.48}, {'connected_gene': 'HMGB2P1', 'score': 0.44}, {'connected_gene': 'STK11', 'score': 0.29}]
chr19 GH19I001382 1382922 1385129 2.37 [{'connected_gene': 'PIR43938', 'score': 550.77}, {'connected_gene': 'TRF-GAA1-6', 'score': 550.77}, {'connected_gene': 'PIR60227', 'score': 550.77}, {'connected_gene': 'NDUFS7', 'score': 550.77}, {'connected_gene': 'TRN-GTT2-6', 'score': 550.77}, {'connected_gene': 'CIRBP', 'score': 135.56}, {'connected_gene': 'SF3A2', 'score': 119.07}, {'connected_gene': 'TMEM259', 'score': 103.99}, {'connected_gene': 'MUM1', 'score': 94.25}, {'connected_gene': 'TCF3', 'score': 75.15}, {'connected_gene': 'LOC100288123', 'score': 72.83}, {'connected_gene': 'DAZAP1', 'score': 66.92}, {'connected_gene': 'GRIN3B', 'score': 60.65}, {'connected_gene': 'SPPL2B', 'score': 57.85}, {'connected_gene': 'PTBP1', 'score': 50.93}, {'connected_gene': 'ENSG00000261526', 'score': 46.95}, {'connected_gene': 'ENSG00000267283', 'score': 45.56}, {'connected_gene': 'ENSG00000267317', 'score': 39.04}, {'connected_gene': 'MED16', 'score': 36.49}, {'connected_gene': 'AP3D1', 'score': 31.5}, {'connected_gene': 'DOT1L', 'score': 30.54}, {'connected_gene': 'MEX3D', 'score': 29.79}, {'connected_gene': 'PALM', 'score': 28.34}, {'connected_gene': 'LOC105372232', 'score': 27.53}, {'connected_gene': 'ENSG00000267666', 'score': 27.21}, {'connected_gene': 'WDR18', 'score': 22.59}, {'connected_gene': 'PLK5', 'score': 21.37}, {'connected_gene': 'C19orf24', 'score': 21.14}, {'connected_gene': 'CSNK1G2', 'score': 19.65}, {'connected_gene': 'CNN2', 'score': 17.98}, {'connected_gene': 'CFD', 'score': 14.77}, {'connected_gene': 'POLRMT', 'score': 12.27}, {'connected_gene': 'ATP8B3', 'score': 11.98}, {'connected_gene': 'ENSG00000268798', 'score': 11.92}, {'connected_gene': 'SCAMP4', 'score': 11.25}, {'connected_gene': 'STK11', 'score': 11.17}, {'connected_gene': 'LSM7', 'score': 10.91}, {'connected_gene': 'FGF22', 'score': 10.8}, {'connected_gene': 'C19orf25', 'score': 10.65}, {'connected_gene': 'MIDN', 'score': 10.47}, {'connected_gene': 'RPS15', 'score': 10.37}, {'connected_gene': 'MBD3', 'score': 10.35}, {'connected_gene': 'BTBD2', 'score': 10.05}, {'connected_gene': 'RNF126', 'score': 9.89}, {'connected_gene': 'SBNO2', 'score': 9.85}, {'connected_gene': 'ENSG00000280486', 'score': 0.44}]

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