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
ENST00000600428 [[6737935, 6738281], [6741020, 6741136], [6741235, 6741292], [6742977, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743847], [6744564, 6744711], [6744810, 6745005], [6746462, 6746572], [6749944, 6750077], [6750302, 6750442], [6750522, 6750644], [6751073, 6751511]] [[6743104, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743847], [6744564, 6744711], [6744810, 6745005], [6746462, 6746572], [6749944, 6750077], [6750302, 6750442], [6750522, 6750644], [6751073, 6751222]]
ENST00000596543 [[6739042, 6739299], [6741020, 6741136], [6741235, 6741292], [6742977, 6743092]] None
ENST00000313285 [[6739690, 6739796], [6741020, 6741136], [6741235, 6741292], [6742977, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743847], [6744564, 6744711], [6744810, 6745005], [6746462, 6746572], [6749944, 6750077], [6750302, 6750442], [6750522, 6750644], [6751073, 6751537]] [[6739772, 6739796], [6741020, 6741136], [6741235, 6741292], [6742977, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743847], [6744564, 6744711], [6744810, 6745005], [6746462, 6746572], [6749944, 6750077], [6750302, 6750442], [6750522, 6750644], [6751073, 6751222]]
ENST00000600677 [[6739724, 6739796], [6741020, 6741136], [6741235, 6741292], [6742977, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743847], [6744564, 6744711], [6744810, 6745005], [6746188, 6746207], [6746443, 6746572], [6749944, 6750077], [6750302, 6750442], [6750522, 6750644], [6751073, 6751520]] [[6739772, 6739796], [6741020, 6741136], [6741235, 6741292], [6742977, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743847], [6744564, 6744711], [6744810, 6745005], [6746188, 6746207], [6746443, 6746472]]
ENST00000313244 [[6739737, 6739796], [6741020, 6741136], [6741235, 6741292], [6742977, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743847], [6744564, 6744711], [6744810, 6745005], [6746039, 6746207], [6746462, 6746572], [6749944, 6750077], [6750302, 6750442], [6750522, 6750644], [6751073, 6751534]] [[6739772, 6739796], [6741020, 6741136], [6741235, 6741292], [6742977, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743847], [6744564, 6744711], [6744810, 6745005], [6746039, 6746207], [6746462, 6746572], [6749944, 6750077], [6750302, 6750442], [6750522, 6750644], [6751073, 6751222]]
ENST00000595305 [[6739737, 6739796], [6741020, 6741136], [6741235, 6741292], [6742977, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743847], [6744564, 6744711], [6744810, 6745005], [6746462, 6746572], [6749944, 6750077], [6750302, 6750644], [6751073, 6751537]] None
ENST00000596758 [[6739772, 6739796], [6741020, 6741136], [6741235, 6741292], [6742977, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743847], [6744564, 6744711], [6744810, 6745005], [6746462, 6746572], [6749944, 6750077], [6750302, 6750442], [6750522, 6750644], [6751044, 6751475]] [[6739772, 6739796], [6741020, 6741136], [6741235, 6741292], [6742977, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743847], [6744564, 6744711], [6744810, 6745005], [6746462, 6746572], [6749944, 6750077], [6750302, 6750442], [6750522, 6750644], [6751044, 6751337]]
ENST00000600491 [[6740693, 6741136], [6741235, 6741292], [6742977, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743847], [6744564, 6744711], [6744810, 6745211]] None
ENST00000596078 [[6740919, 6741136], [6741235, 6741292], [6742977, 6743125], [6743204, 6743609], [6743718, 6743901]] None
ENST00000596673 [[6740928, 6741136], [6742977, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743780]] [[6743104, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743780]]
ENST00000595319 [[6740954, 6741292], [6742977, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743840]] None
ENST00000601303 [[6741235, 6741292], [6742977, 6743125], [6743204, 6743267], [6743380, 6743423]] None
ENST00000598843 [[6746318, 6746572], [6749944, 6750077], [6750302, 6750384]] None
NM_004240 [[6739692, 6739796], [6741020, 6741136], [6741235, 6741292], [6742977, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743847], [6744564, 6744711], [6744810, 6745005], [6746462, 6746572], [6749944, 6750077], [6750302, 6750442], [6750522, 6750644], [6751073, 6751537]] [[6739772, 6739796], [6741020, 6741136], [6741235, 6741292], [6742977, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743847], [6744564, 6744711], [6744810, 6745005], [6746462, 6746572], [6749944, 6750077], [6750302, 6750442], [6750522, 6750644], [6751073, 6751222]]
NM_001288963 [[6739692, 6739796], [6741020, 6741136], [6741235, 6741292], [6742977, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743847], [6744564, 6744711], [6744810, 6745005], [6746462, 6746572], [6749944, 6750077], [6750302, 6750442], [6750522, 6750644], [6751044, 6751537]] [[6739772, 6739796], [6741020, 6741136], [6741235, 6741292], [6742977, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743847], [6744564, 6744711], [6744810, 6745005], [6746462, 6746572], [6749944, 6750077], [6750302, 6750442], [6750522, 6750644], [6751044, 6751337]]
NR_110231 [[6739692, 6739796], [6741020, 6741136], [6741235, 6741292], [6742977, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743847], [6744564, 6744711], [6744810, 6745005], [6746188, 6746207], [6746462, 6746572], [6749944, 6750077], [6750302, 6750442], [6750522, 6750644], [6751073, 6751537]] None
NM_001288962 [[6739692, 6739796], [6741020, 6741136], [6741235, 6741292], [6742977, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743847], [6744564, 6744711], [6744810, 6745005], [6746039, 6746207], [6746462, 6746572], [6749944, 6750077], [6750302, 6750442], [6750522, 6750644], [6751073, 6751537]] [[6739772, 6739796], [6741020, 6741136], [6741235, 6741292], [6742977, 6743125], [6743204, 6743267], [6743504, 6743609], [6743718, 6743847], [6744564, 6744711], [6744810, 6745005], [6746039, 6746207], [6746462, 6746572], [6749944, 6750077], [6750302, 6750442], [6750522, 6750644], [6751073, 6751222]]
Promoter
Chrom Start End Description
chr19 6739662 6739748 CAGE_peak_1_at_TRIP10_5end
chr19 6740730 6740786 CAGE_peak_3_at_TRIP10_5end
chr19 6740888 6740937 CAGE_peak_2_at_TRIP10_5end
chr19 6744230 6744261 CAGE_peak_9_at_TRIP10_5end
chr19 6744539 6744568 CAGE_peak_4_at_TRIP10_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I006556 6556464 6556733 0.78 [{'connected_gene': 'TRIP10', 'score': 14.56}, {'connected_gene': 'ENSG00000269680', 'score': 11.43}, {'connected_gene': 'SAFB2', 'score': 10.32}, {'connected_gene': 'ADGRE1', 'score': 3.44}, {'connected_gene': 'TNFSF14', 'score': 2.39}, {'connected_gene': 'TNFSF9', 'score': 2.22}, {'connected_gene': 'RFX2', 'score': 1.78}, {'connected_gene': 'VAV1', 'score': 1.55}, {'connected_gene': 'LOC100421483', 'score': 0.77}, {'connected_gene': 'CLIC4P2', 'score': 0.44}]
chr19 GH19I006527 6527568 6533719 2.32 [{'connected_gene': 'TNFSF9', 'score': 550.77}, {'connected_gene': 'ZNF557', 'score': 154.15}, {'connected_gene': 'KHSRP', 'score': 136.17}, {'connected_gene': 'DUS3L', 'score': 128.23}, {'connected_gene': 'SAFB2', 'score': 106.26}, {'connected_gene': 'SAFB', 'score': 101.87}, {'connected_gene': 'SNRPEP4', 'score': 79.13}, {'connected_gene': 'ENSG00000267571', 'score': 68.44}, {'connected_gene': 'GTF2F1', 'score': 63.9}, {'connected_gene': 'RANBP3', 'score': 50.02}, {'connected_gene': 'VMAC', 'score': 39.59}, {'connected_gene': 'GPR108', 'score': 31.01}, {'connected_gene': 'TRIP10', 'score': 23.38}, {'connected_gene': 'RPL36', 'score': 18.65}, {'connected_gene': 'ACSBG2', 'score': 16.27}, {'connected_gene': 'ENSG00000269680', 'score': 11.42}, {'connected_gene': 'PSPN', 'score': 10.65}, {'connected_gene': 'HSD11B1L', 'score': 9.7}, {'connected_gene': 'SLC25A23', 'score': 5.79}, {'connected_gene': 'LOC100421483', 'score': 0.34}]
chr19 GH19I006674 6674538 6675675 1.7 [{'connected_gene': 'TNFSF14', 'score': 51.55}, {'connected_gene': 'DENND1C', 'score': 14.97}, {'connected_gene': 'C3', 'score': 12.09}, {'connected_gene': 'GPR108', 'score': 12.07}, {'connected_gene': 'TRIP10', 'score': 12.07}, {'connected_gene': 'XAB2', 'score': 11.99}, {'connected_gene': 'ZNF557', 'score': 11.44}, {'connected_gene': 'DUS3L', 'score': 10.27}, {'connected_gene': 'KHSRP', 'score': 9.76}, {'connected_gene': 'STXBP2', 'score': 9.72}, {'connected_gene': 'ADGRE1', 'score': 4.81}, {'connected_gene': 'VAV1', 'score': 2.93}, {'connected_gene': 'TNFSF9', 'score': 1.78}, {'connected_gene': 'GC19P006699', 'score': 0.34}]
chr19 GH19I006423 6423090 6426250 2.07 [{'connected_gene': 'KHSRP', 'score': 590.87}, {'connected_gene': 'GC19M006424', 'score': 550.77}, {'connected_gene': 'ZNF557', 'score': 45.22}, {'connected_gene': 'DUS3L', 'score': 43.52}, {'connected_gene': 'ENSG00000267571', 'score': 25.14}, {'connected_gene': 'SNRPEP4', 'score': 23.71}, {'connected_gene': 'SAFB', 'score': 22.94}, {'connected_gene': 'RANBP3', 'score': 21.34}, {'connected_gene': 'SAFB2', 'score': 19.58}, {'connected_gene': 'VMAC', 'score': 17.21}, {'connected_gene': 'TRIP10', 'score': 14.53}, {'connected_gene': 'GPR108', 'score': 14.42}, {'connected_gene': 'GTF2F1', 'score': 13.2}, {'connected_gene': 'ENSG00000269680', 'score': 11.4}, {'connected_gene': 'ALKBH7', 'score': 10.22}, {'connected_gene': 'CLPP', 'score': 6.82}, {'connected_gene': 'SLC25A41', 'score': 6.54}, {'connected_gene': 'MIR3940', 'score': 0.44}]
chr19 GH19I006371 6371601 6375003 2.08 [{'connected_gene': 'ALKBH7', 'score': 560.76}, {'connected_gene': 'KHSRP', 'score': 48.0}, {'connected_gene': 'DUS3L', 'score': 45.04}, {'connected_gene': 'ZNF557', 'score': 35.23}, {'connected_gene': 'SNRPEP4', 'score': 25.7}, {'connected_gene': 'RANBP3', 'score': 23.1}, {'connected_gene': 'SAFB', 'score': 19.77}, {'connected_gene': 'TRIP10', 'score': 14.53}, {'connected_gene': 'GTF2F1', 'score': 12.71}, {'connected_gene': 'ENSG00000269680', 'score': 11.4}, {'connected_gene': 'ENSG00000267571', 'score': 10.26}, {'connected_gene': 'CLPP', 'score': 6.9}, {'connected_gene': 'PSPN', 'score': 0.44}]
chr19 GH19I006489 6489050 6490425 1.44 [{'connected_gene': 'ZNF557', 'score': 12.34}, {'connected_gene': 'DUS3L', 'score': 11.89}, {'connected_gene': 'SNRPEP4', 'score': 11.45}, {'connected_gene': 'VMAC', 'score': 10.93}, {'connected_gene': 'TRIP10', 'score': 10.66}, {'connected_gene': 'CD70', 'score': 5.08}, {'connected_gene': 'SLC25A23', 'score': 3.63}, {'connected_gene': 'TNFSF9', 'score': 1.72}, {'connected_gene': 'DENND1C', 'score': 1.61}, {'connected_gene': 'ENSG00000268191', 'score': 0.77}, {'connected_gene': 'ENSG00000268203', 'score': 0.77}]
chr19 GH19I006166 6166090 6166239 0.85 [{'connected_gene': 'ZNF557', 'score': 12.34}, {'connected_gene': 'DUS3L', 'score': 11.92}, {'connected_gene': 'SNRPEP4', 'score': 11.46}, {'connected_gene': 'VMAC', 'score': 10.97}, {'connected_gene': 'TRIP10', 'score': 10.62}, {'connected_gene': 'ENSG00000267415', 'score': 0.39}, {'connected_gene': 'GC19P006136', 'score': 0.31}, {'connected_gene': 'RFX2', 'score': 0.29}, {'connected_gene': 'ACSBG2', 'score': 0.29}, {'connected_gene': 'LOC105372255', 'score': 0.29}]
chr19 GH19I007628 7628247 7630926 2.01 [{'connected_gene': 'XAB2', 'score': 590.61}, {'connected_gene': 'PET100', 'score': 567.87}, {'connected_gene': 'ENSG00000268400', 'score': 550.77}, {'connected_gene': 'ELAVL1', 'score': 25.23}, {'connected_gene': 'HNRNPM', 'score': 22.17}, {'connected_gene': 'TRIP10', 'score': 14.5}, {'connected_gene': 'ZNF557', 'score': 12.97}, {'connected_gene': 'ENSG00000269680', 'score': 11.37}, {'connected_gene': 'RETN', 'score': 6.75}, {'connected_gene': 'PCP2', 'score': 6.09}]
chr19 GH19I006587 6587005 6588529 1.56 [{'connected_gene': 'DUS3L', 'score': 30.01}, {'connected_gene': 'ZNF557', 'score': 21.39}, {'connected_gene': 'VMAC', 'score': 19.84}, {'connected_gene': 'DENND1C', 'score': 18.13}, {'connected_gene': 'ARHGEF18', 'score': 12.45}, {'connected_gene': 'SAFB', 'score': 10.97}, {'connected_gene': 'TRIP10', 'score': 10.7}, {'connected_gene': 'GPR108', 'score': 10.35}, {'connected_gene': 'CD70', 'score': 6.82}, {'connected_gene': 'TNFSF9', 'score': 4.75}, {'connected_gene': 'GC19P006581', 'score': 0.44}, {'connected_gene': 'RPL7P50', 'score': 0.44}]
chr19 GH19I006733 6733712 6741793 2.33 [{'connected_gene': 'GPR108', 'score': 598.73}, {'connected_gene': 'TRIP10', 'score': 565.24}, {'connected_gene': 'MIR6791', 'score': 550.77}, {'connected_gene': 'DUS3L', 'score': 23.12}, {'connected_gene': 'KHSRP', 'score': 20.84}, {'connected_gene': 'ZNF557', 'score': 13.0}, {'connected_gene': 'XAB2', 'score': 11.91}, {'connected_gene': 'ENSG00000269680', 'score': 11.74}, {'connected_gene': 'ALKBH7', 'score': 10.04}]
chr19 GH19I006742 6742494 6746372 1.32 [{'connected_gene': 'GPR108', 'score': 19.86}, {'connected_gene': 'TRIP10', 'score': 13.87}, {'connected_gene': 'ENSG00000269680', 'score': 0.44}]
chr19 GH19I005902 5902338 5905985 2.1 [{'connected_gene': 'VMAC', 'score': 563.97}, {'connected_gene': 'ENSG00000267740', 'score': 550.77}, {'connected_gene': 'NDUFA11', 'score': 550.77}, {'connected_gene': 'ENSG00000267314', 'score': 550.77}, {'connected_gene': 'CAPS', 'score': 32.23}, {'connected_gene': 'DUS3L', 'score': 24.73}, {'connected_gene': 'PTPRS', 'score': 24.47}, {'connected_gene': 'KHSRP', 'score': 22.99}, {'connected_gene': 'SNRPEP4', 'score': 22.25}, {'connected_gene': 'ENSG00000267571', 'score': 17.06}, {'connected_gene': 'DENND1C', 'score': 15.43}, {'connected_gene': 'TRIP10', 'score': 14.5}, {'connected_gene': 'SAFB', 'score': 12.11}, {'connected_gene': 'KDM4B', 'score': 11.53}, {'connected_gene': 'ENSG00000269680', 'score': 11.37}, {'connected_gene': 'GPR108', 'score': 10.6}]
chr19 GH19I007493 7493489 7495694 1.15 [{'connected_gene': 'TEX45', 'score': 550.77}, {'connected_gene': 'PEX11G', 'score': 32.31}, {'connected_gene': 'TRIP10', 'score': 14.5}, {'connected_gene': 'ENSG00000269680', 'score': 11.37}, {'connected_gene': 'HNRNPM', 'score': 10.28}]
chr19 GH19I007205 7205967 7216416 1.34 [{'connected_gene': 'ARHGEF18', 'score': 11.0}, {'connected_gene': 'INSR', 'score': 6.89}, {'connected_gene': 'SH2D3A', 'score': 5.58}, {'connected_gene': 'ADGRE1', 'score': 5.33}, {'connected_gene': 'TRIP10', 'score': 4.83}, {'connected_gene': 'GC19P007214', 'score': 0.77}, {'connected_gene': 'GC19P007151', 'score': 0.21}]
chr19 GH19I007514 7514483 7517326 1.91 [{'connected_gene': 'ZNF358', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 26.85}, {'connected_gene': 'XAB2', 'score': 19.45}, {'connected_gene': 'ZNF557', 'score': 18.27}, {'connected_gene': 'ELAVL1', 'score': 16.05}, {'connected_gene': 'TRIP10', 'score': 14.5}, {'connected_gene': 'ZNF414', 'score': 13.16}, {'connected_gene': 'MAP2K7', 'score': 12.57}, {'connected_gene': 'ENSG00000269680', 'score': 11.37}, {'connected_gene': 'SH2D3A', 'score': 6.31}, {'connected_gene': 'PEX11G', 'score': 5.99}, {'connected_gene': 'LOC105372261', 'score': 0.44}, {'connected_gene': 'GC19M007510', 'score': 0.44}, {'connected_gene': 'MCOLN1', 'score': 0.44}, {'connected_gene': 'ENSG00000267952', 'score': 0.44}, {'connected_gene': 'TEX45', 'score': 0.34}]
chr19 GH19I006750 6750130 6750399 0.51 [{'connected_gene': 'ENSG00000269680', 'score': 550.77}, {'connected_gene': 'CD70', 'score': 5.49}, {'connected_gene': 'TRIP10', 'score': 0.39}]
chr19 GH19I006236 6236739 6237459 0.94 [{'connected_gene': 'GC19P006239', 'score': 550.77}, {'connected_gene': 'GC19M006237', 'score': 550.77}, {'connected_gene': 'PIR51891', 'score': 550.77}, {'connected_gene': 'TRIP10', 'score': 9.98}, {'connected_gene': 'GC19M006213', 'score': 0.34}, {'connected_gene': 'MLLT1', 'score': 0.26}]
chr19 GH19I006718 6717530 6717751 0.98 [{'connected_gene': 'ENSG00000276980', 'score': 550.77}, {'connected_gene': 'XAB2', 'score': 104.03}, {'connected_gene': 'ZNF557', 'score': 103.17}, {'connected_gene': 'DUS3L', 'score': 92.4}, {'connected_gene': 'ENSG00000267571', 'score': 64.59}, {'connected_gene': 'KHSRP', 'score': 62.29}, {'connected_gene': 'VMAC', 'score': 51.2}, {'connected_gene': 'GPR108', 'score': 46.51}, {'connected_gene': 'RANBP3', 'score': 38.83}, {'connected_gene': 'TRIP10', 'score': 23.64}, {'connected_gene': 'ENSG00000269680', 'score': 11.64}, {'connected_gene': 'C3', 'score': 0.39}, {'connected_gene': 'GC19P006699', 'score': 0.37}]
chr19 GH19I006660 6660377 6664526 1.48 [{'connected_gene': 'GC19M006661', 'score': 550.77}, {'connected_gene': 'DUS3L', 'score': 20.46}, {'connected_gene': 'ENSG00000267571', 'score': 20.06}, {'connected_gene': 'ZNF557', 'score': 19.05}, {'connected_gene': 'TRIP10', 'score': 14.66}, {'connected_gene': 'ENSG00000269680', 'score': 11.51}, {'connected_gene': 'XAB2', 'score': 11.44}, {'connected_gene': 'KHSRP', 'score': 9.7}, {'connected_gene': 'GPR108', 'score': 4.9}, {'connected_gene': 'TNFSF9', 'score': 1.7}, {'connected_gene': 'TNFSF14', 'score': 0.44}, {'connected_gene': 'GC19P006639', 'score': 0.34}]
chr19 GH19I006751 6751203 6754550 1.43 [{'connected_gene': 'ENSG00000269680', 'score': 550.77}, {'connected_gene': 'SH2D3A', 'score': 31.8}, {'connected_gene': 'DUS3L', 'score': 10.2}, {'connected_gene': 'PIR50354', 'score': 0.44}, {'connected_gene': 'TRIP10', 'score': 0.39}]

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