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
ENST00000592782 [[43128977, 43129061], [43138650, 43138828], [43159011, 43159120], [43163875, 43164020], [43171052, 43171171], [43173561, 43173653], [43174495, 43174612], [43175749, 43175920], [43176772, 43176881], [43180318, 43180489], [43181076, 43181244], [43182226, 43182364], [43182986, 43186384]] [[43138697, 43138828], [43159011, 43159120], [43163875, 43164020], [43171052, 43171171], [43173561, 43173653], [43174495, 43174612], [43175749, 43175920], [43176772, 43176881], [43180318, 43180489], [43181076, 43181244], [43182226, 43182364], [43182986, 43183007]]
ENST00000588975 [[43138673, 43138828], [43163875, 43163903]] None
ENST00000258960 [[43138679, 43138828], [43159011, 43159120], [43163875, 43164020], [43171052, 43171171], [43173561, 43173653], [43174495, 43174612], [43175749, 43175920], [43176772, 43176881], [43180318, 43180489], [43181076, 43181244], [43182226, 43182364], [43182986, 43186377]] [[43138697, 43138828], [43159011, 43159120], [43163875, 43164020], [43171052, 43171171], [43173561, 43173653], [43174495, 43174612], [43175749, 43175920], [43176772, 43176881], [43180318, 43180489], [43181076, 43181244], [43182226, 43182364], [43182986, 43183007]]
ENST00000543908 [[43138687, 43138828], [43159011, 43159120], [43163875, 43164020], [43173561, 43173653], [43174495, 43174612], [43175749, 43176211]] [[43138697, 43138828], [43159011, 43159120], [43163875, 43164020], [43173561, 43173590]]
ENST00000585561 [[43138701, 43138828], [43159011, 43159120], [43161025, 43161123], [43163875, 43164020], [43171052, 43171171], [43173561, 43173653], [43174495, 43174612]] [[43138701, 43138828], [43159011, 43159120], [43161025, 43161055]]
ENST00000590114 [[43138701, 43138828], [43159011, 43159120], [43163875, 43164020], [43171052, 43171171], [43173561, 43173653], [43175749, 43175823]] None
ENST00000592654 [[43139046, 43139278], [43159011, 43159120], [43163875, 43164020], [43171052, 43171124]] [[43163875, 43164020], [43171052, 43171124]]
ENST00000588455 [[43170998, 43171171], [43173561, 43173653], [43174495, 43174612], [43175749, 43175920], [43176772, 43176804]] None
ENST00000590310 [[43174495, 43174612], [43175749, 43175920], [43176772, 43177188]] None
ENST00000587014 [[43180330, 43180489], [43181076, 43181690]] None
ENST00000591931 [[43181984, 43182364], [43182986, 43183354]] None
ENST00000587120 [[43183011, 43183245], [43186045, 43186384]] None
ENST00000587670 [[43183132, 43183313], [43185146, 43185502]] None
NM_021079 [[43138666, 43138828], [43159011, 43159120], [43163875, 43164020], [43171052, 43171171], [43173561, 43173653], [43174495, 43174612], [43175749, 43175920], [43176772, 43176881], [43180318, 43180489], [43181076, 43181244], [43182226, 43182364], [43182986, 43186384]] [[43138697, 43138828], [43159011, 43159120], [43163875, 43164020], [43171052, 43171171], [43173561, 43173653], [43174495, 43174612], [43175749, 43175920], [43176772, 43176881], [43180318, 43180489], [43181076, 43181244], [43182226, 43182364], [43182986, 43183007]]
Promoter
Chrom Start End Description
chr17 43138276 43138308 CAGE_peak_7_at_NMT1_5end
chr17 43138664 43138701 CAGE_peak_1_at_NMT1_5end
chr17 43180160 43180169 CAGE_peak_5_at_NMT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I045340 45340998 45343171 1.22 [{'connected_gene': 'MAP3K14', 'score': 11.94}, {'connected_gene': 'SPATA32', 'score': 11.4}, {'connected_gene': 'FMNL1', 'score': 10.7}, {'connected_gene': 'HIGD1B', 'score': 4.75}, {'connected_gene': 'NMT1', 'score': 4.58}, {'connected_gene': 'RNA5SP443', 'score': 0.39}, {'connected_gene': 'GC17M045328', 'score': 0.39}, {'connected_gene': 'LOC105371796', 'score': 0.34}]
chr17 GH17I045095 45095626 45097048 0.43 [{'connected_gene': 'DCAKD', 'score': 20.12}, {'connected_gene': 'SLC25A39', 'score': 5.45}, {'connected_gene': 'MIR6784', 'score': 0.37}, {'connected_gene': 'ENSG00000200888', 'score': 0.34}, {'connected_gene': 'NMT1', 'score': 0.26}]
chr17 GH17I045049 45049832 45052876 2.23 [{'connected_gene': 'DCAKD', 'score': 581.06}, {'connected_gene': 'NMT1', 'score': 550.77}, {'connected_gene': 'ENSG00000262372', 'score': 13.91}, {'connected_gene': 'UBTF', 'score': 12.79}, {'connected_gene': 'ASB16-AS1', 'score': 11.3}, {'connected_gene': 'SLC25A39', 'score': 4.5}, {'connected_gene': 'GC17M045043', 'score': 0.44}]
chr17 GH17I045059 45059307 45064185 2.3 [{'connected_gene': 'DCAKD', 'score': 574.62}, {'connected_gene': 'PIR53442', 'score': 550.77}, {'connected_gene': 'NMT1', 'score': 550.39}, {'connected_gene': 'ENSG00000262372', 'score': 26.54}, {'connected_gene': 'ASB16-AS1', 'score': 24.33}, {'connected_gene': 'TMUB2', 'score': 20.59}, {'connected_gene': 'UBTF', 'score': 14.83}, {'connected_gene': 'C17orf53', 'score': 12.86}, {'connected_gene': 'MAP3K14-AS1', 'score': 12.08}, {'connected_gene': 'LSM12', 'score': 11.78}, {'connected_gene': 'ENSG00000224505', 'score': 11.4}, {'connected_gene': 'GFAP', 'score': 11.08}, {'connected_gene': 'ENSG00000267344', 'score': 10.95}, {'connected_gene': 'C1QL1', 'score': 10.62}, {'connected_gene': 'EFTUD2', 'score': 10.51}, {'connected_gene': 'HEXIM2', 'score': 9.8}, {'connected_gene': 'PLCD3', 'score': 9.33}, {'connected_gene': 'GC17P045072', 'score': 0.44}]
chr17 GH17I045029 45029591 45032728 1.14 [{'connected_gene': 'DCAKD', 'score': 31.22}, {'connected_gene': 'NMT1', 'score': 12.34}, {'connected_gene': 'KIF18B', 'score': 11.66}, {'connected_gene': 'GFAP', 'score': 11.62}, {'connected_gene': 'C1QL1', 'score': 11.21}, {'connected_gene': 'HEXIM2', 'score': 10.98}, {'connected_gene': 'ENSG00000224505', 'score': 10.97}, {'connected_gene': 'EFTUD2', 'score': 10.6}, {'connected_gene': 'CCDC103', 'score': 10.6}, {'connected_gene': 'FAM187A', 'score': 10.6}, {'connected_gene': 'PLCD3', 'score': 8.92}, {'connected_gene': 'LRRC37A4P', 'score': 6.15}, {'connected_gene': 'GC17M045043', 'score': 0.39}, {'connected_gene': 'GC17M045006', 'score': 0.37}]
chr17 GH17I045020 45020155 45022693 1.36 [{'connected_gene': 'DCAKD', 'score': 27.36}, {'connected_gene': 'NMT1', 'score': 12.2}, {'connected_gene': 'C1QL1', 'score': 11.87}, {'connected_gene': 'GFAP', 'score': 11.7}, {'connected_gene': 'EFTUD2', 'score': 11.59}, {'connected_gene': 'CCDC103', 'score': 11.59}, {'connected_gene': 'FAM187A', 'score': 11.59}, {'connected_gene': 'KIF18B', 'score': 11.34}, {'connected_gene': 'HEXIM2', 'score': 11.08}, {'connected_gene': 'ENSG00000224505', 'score': 11.07}, {'connected_gene': 'MEIOC', 'score': 9.31}, {'connected_gene': 'GC17M045006', 'score': 0.44}, {'connected_gene': 'GC17M045043', 'score': 0.34}]
chr17 GH17I045080 45080831 45082277 0.2 [{'connected_gene': 'DCAKD', 'score': 16.56}, {'connected_gene': 'ENSG00000200888', 'score': 0.39}, {'connected_gene': 'NMT1', 'score': 0.31}, {'connected_gene': 'MIR6784', 'score': 0.29}]
chr17 GH17I045072 45072901 45075395 0.91 [{'connected_gene': 'DCAKD', 'score': 24.57}, {'connected_gene': 'ENSG00000200888', 'score': 0.77}, {'connected_gene': 'NMT1', 'score': 0.34}, {'connected_gene': 'MIR6784', 'score': 0.26}]
chr17 GH17I045098 45098268 45099652 0.86 [{'connected_gene': 'DCAKD', 'score': 25.68}, {'connected_gene': 'LINC02210', 'score': 10.76}, {'connected_gene': 'PLCD3', 'score': 10.13}, {'connected_gene': 'MIR6784', 'score': 0.37}, {'connected_gene': 'ENSG00000200888', 'score': 0.31}, {'connected_gene': 'NMT1', 'score': 0.25}]
chr17 GH17I045009 45009170 45011285 0.57 [{'connected_gene': 'DCAKD', 'score': 24.78}, {'connected_gene': 'KIF18B', 'score': 12.28}, {'connected_gene': 'C1QL1', 'score': 11.74}, {'connected_gene': 'EFTUD2', 'score': 11.66}, {'connected_gene': 'CCDC103', 'score': 11.66}, {'connected_gene': 'FAM187A', 'score': 11.66}, {'connected_gene': 'GFAP', 'score': 11.65}, {'connected_gene': 'NMT1', 'score': 11.45}, {'connected_gene': 'PLCD3', 'score': 7.97}, {'connected_gene': 'GC17M045006', 'score': 0.77}, {'connected_gene': 'GC17M044982', 'score': 0.31}]
chr17 GH17I045003 45003114 45005058 0.38 [{'connected_gene': 'DCAKD', 'score': 23.98}, {'connected_gene': 'KIF18B', 'score': 12.29}, {'connected_gene': 'C1QL1', 'score': 11.68}, {'connected_gene': 'EFTUD2', 'score': 11.68}, {'connected_gene': 'CCDC103', 'score': 11.68}, {'connected_gene': 'FAM187A', 'score': 11.68}, {'connected_gene': 'GFAP', 'score': 11.66}, {'connected_gene': 'NMT1', 'score': 11.43}, {'connected_gene': 'GC17M045006', 'score': 0.44}, {'connected_gene': 'GC17M044982', 'score': 0.34}]
chr17 GH17I045089 45089928 45094483 1.54 [{'connected_gene': 'DCAKD', 'score': 34.93}, {'connected_gene': 'PLCD3', 'score': 23.25}, {'connected_gene': 'GFAP', 'score': 16.99}, {'connected_gene': 'NMT1', 'score': 16.62}, {'connected_gene': 'ACBD4', 'score': 13.52}, {'connected_gene': 'HEXIM1', 'score': 13.48}, {'connected_gene': 'HIGD1B', 'score': 2.63}, {'connected_gene': 'ADAM11', 'score': 1.31}, {'connected_gene': 'MIR6784', 'score': 0.34}, {'connected_gene': 'ENSG00000200888', 'score': 0.34}]
chr17 GH17I045110 45110394 45112586 0.86 [{'connected_gene': 'DCAKD', 'score': 23.1}, {'connected_gene': 'PLCD3', 'score': 14.93}, {'connected_gene': 'HEXIM2', 'score': 4.88}, {'connected_gene': 'NMT1', 'score': 4.15}, {'connected_gene': 'MIR6784', 'score': 0.77}, {'connected_gene': 'ENSG00000200888', 'score': 0.26}]
chr17 GH17I045106 45106002 45109918 0.6 [{'connected_gene': 'DCAKD', 'score': 17.72}, {'connected_gene': 'PLCD3', 'score': 10.06}, {'connected_gene': 'RUNDC3A-AS1', 'score': 6.31}, {'connected_gene': 'NMT1', 'score': 5.21}, {'connected_gene': 'MIR6784', 'score': 0.44}, {'connected_gene': 'ENSG00000200888', 'score': 0.28}]
chr17 GH17I044977 44977180 44982418 1.34 [{'connected_gene': 'UBTF', 'score': 38.91}, {'connected_gene': 'LINC02210', 'score': 26.79}, {'connected_gene': 'GJC1', 'score': 21.82}, {'connected_gene': 'NMT1', 'score': 20.89}, {'connected_gene': 'EFTUD2', 'score': 19.18}, {'connected_gene': 'MAP3K14-AS1', 'score': 19.11}, {'connected_gene': 'LRRC37A4P', 'score': 17.77}, {'connected_gene': 'ASB16-AS1', 'score': 14.37}, {'connected_gene': 'ENSG00000266918', 'score': 13.57}, {'connected_gene': 'KIF18B', 'score': 12.24}, {'connected_gene': 'C17orf53', 'score': 11.92}, {'connected_gene': 'FAM171A2', 'score': 11.8}, {'connected_gene': 'GFAP', 'score': 11.59}, {'connected_gene': 'GPATCH8', 'score': 10.63}, {'connected_gene': 'ENSG00000267160', 'score': 10.57}, {'connected_gene': 'DCAKD', 'score': 10.44}, {'connected_gene': 'HEXIM2', 'score': 10.38}, {'connected_gene': 'ADAM11', 'score': 9.89}, {'connected_gene': 'DBF4B', 'score': 8.71}, {'connected_gene': 'ACBD4', 'score': 5.49}, {'connected_gene': 'FAM187A', 'score': 5.0}, {'connected_gene': 'GC17P044983', 'score': 0.77}, {'connected_gene': 'C1QL1', 'score': 0.39}, {'connected_gene': 'GC17P044954', 'score': 0.34}]
chr17 GH17I045006 45006984 45007326 0.87 [{'connected_gene': 'KIF18B', 'score': 12.29}, {'connected_gene': 'C1QL1', 'score': 11.68}, {'connected_gene': 'EFTUD2', 'score': 11.67}, {'connected_gene': 'CCDC103', 'score': 11.67}, {'connected_gene': 'FAM187A', 'score': 11.67}, {'connected_gene': 'GFAP', 'score': 11.65}, {'connected_gene': 'NMT1', 'score': 11.45}, {'connected_gene': 'DCAKD', 'score': 11.42}, {'connected_gene': 'GC17M045006', 'score': 0.44}, {'connected_gene': 'GC17M044982', 'score': 0.34}]
chr17 GH17I044976 44976015 44976776 0.52 [{'connected_gene': 'GJC1', 'score': 15.17}, {'connected_gene': 'KIF18B', 'score': 12.05}, {'connected_gene': 'GFAP', 'score': 11.47}, {'connected_gene': 'NMT1', 'score': 10.45}, {'connected_gene': 'DCAKD', 'score': 10.44}, {'connected_gene': 'C1QL1', 'score': 0.44}, {'connected_gene': 'GC17P044983', 'score': 0.44}, {'connected_gene': 'GC17P044954', 'score': 0.34}]
chr17 GH17I045101 45101217 45104302 1.09 [{'connected_gene': 'PLCD3', 'score': 10.01}, {'connected_gene': 'MIR6784', 'score': 0.39}, {'connected_gene': 'ENSG00000200888', 'score': 0.29}, {'connected_gene': 'NMT1', 'score': 0.23}]
chr17 GH17I045000 45000953 45001920 0.31 [{'connected_gene': 'C1QL1', 'score': 12.28}, {'connected_gene': 'GFAP', 'score': 11.43}, {'connected_gene': 'KIF18B', 'score': 11.34}, {'connected_gene': 'NMT1', 'score': 10.64}, {'connected_gene': 'DCAKD', 'score': 10.63}, {'connected_gene': 'GC17M045006', 'score': 0.39}, {'connected_gene': 'GC17M044982', 'score': 0.37}]
chr17 GH17I045143 45143150 45152743 2.65 [{'connected_gene': 'HEXIM1', 'score': 581.29}, {'connected_gene': 'GC17M045149', 'score': 550.77}, {'connected_gene': 'ENSG00000276728', 'score': 550.77}, {'connected_gene': 'ENSG00000262372', 'score': 138.63}, {'connected_gene': 'ASB16-AS1', 'score': 125.41}, {'connected_gene': 'UBTF', 'score': 110.84}, {'connected_gene': 'TMUB2', 'score': 94.15}, {'connected_gene': 'ENSG00000224505', 'score': 44.16}, {'connected_gene': 'LINC02210', 'score': 40.81}, {'connected_gene': 'MAP3K14-AS1', 'score': 29.68}, {'connected_gene': 'EFTUD2', 'score': 27.46}, {'connected_gene': 'ENSG00000260793', 'score': 24.07}, {'connected_gene': 'DCAKD', 'score': 21.93}, {'connected_gene': 'LRRC37A4P', 'score': 18.18}, {'connected_gene': 'ENSG00000266918', 'score': 16.98}, {'connected_gene': 'FAM171A2', 'score': 11.8}, {'connected_gene': 'FMNL1', 'score': 11.43}, {'connected_gene': 'ENSG00000233175', 'score': 11.36}, {'connected_gene': 'ENSG00000267160', 'score': 11.12}, {'connected_gene': 'DBF4B', 'score': 11.02}, {'connected_gene': 'ENSG00000267344', 'score': 10.96}, {'connected_gene': 'NMT1', 'score': 10.59}, {'connected_gene': 'GPATCH8', 'score': 10.31}, {'connected_gene': 'ADAM11', 'score': 9.87}, {'connected_gene': 'PLCD3', 'score': 5.62}, {'connected_gene': 'SLC25A39', 'score': 5.42}, {'connected_gene': 'MAPK8IP1P2', 'score': 4.59}, {'connected_gene': 'ENSG00000267505', 'score': 4.54}, {'connected_gene': 'ACBD4', 'score': 1.95}]
chr17 GH17I044642 44642356 44643920 0.52 [{'connected_gene': 'GC17P044647', 'score': 550.77}, {'connected_gene': 'DBF4B', 'score': 14.71}, {'connected_gene': 'MPP2', 'score': 14.08}, {'connected_gene': 'UBTF', 'score': 11.89}, {'connected_gene': 'FAM171A2', 'score': 11.84}, {'connected_gene': 'NMT1', 'score': 10.49}, {'connected_gene': 'ADAM11', 'score': 9.95}, {'connected_gene': 'GC17P044640', 'score': 0.44}]
chr17 GH17I045042 45042716 45049469 1.34 [{'connected_gene': 'GC17M045043', 'score': 550.77}, {'connected_gene': 'UBTF', 'score': 71.79}, {'connected_gene': 'ENSG00000262372', 'score': 70.33}, {'connected_gene': 'ASB16-AS1', 'score': 65.74}, {'connected_gene': 'TMUB2', 'score': 35.58}, {'connected_gene': 'DCAKD', 'score': 25.87}, {'connected_gene': 'ENSG00000266918', 'score': 19.22}, {'connected_gene': 'ENSG00000224505', 'score': 12.5}, {'connected_gene': 'GPATCH8', 'score': 10.31}, {'connected_gene': 'LINC02210', 'score': 9.84}, {'connected_gene': 'PLCD3', 'score': 8.8}, {'connected_gene': 'GJC1', 'score': 5.83}, {'connected_gene': 'NMT1', 'score': 0.44}]
chr17 GH17I045075 45075893 45078452 0.84 [{'connected_gene': 'ENSG00000200888', 'score': 0.44}, {'connected_gene': 'NMT1', 'score': 0.31}, {'connected_gene': 'MIR6784', 'score': 0.28}]
chr17 GH17I045157 45157765 45163130 2.34 [{'connected_gene': 'ENSG00000224505', 'score': 572.0}, {'connected_gene': 'HEXIM2', 'score': 560.42}, {'connected_gene': 'ENSG00000262372', 'score': 38.9}, {'connected_gene': 'UBTF', 'score': 30.26}, {'connected_gene': 'TMUB2', 'score': 24.48}, {'connected_gene': 'ASB16-AS1', 'score': 23.08}, {'connected_gene': 'MAP3K14-AS1', 'score': 21.41}, {'connected_gene': 'EFTUD2', 'score': 18.7}, {'connected_gene': 'PLCD3', 'score': 12.35}, {'connected_gene': 'ACBD4', 'score': 12.35}, {'connected_gene': 'FAM171A2', 'score': 11.8}, {'connected_gene': 'HEXIM1', 'score': 11.8}, {'connected_gene': 'FMNL1', 'score': 11.5}, {'connected_gene': 'ENSG00000267160', 'score': 11.12}, {'connected_gene': 'NMT1', 'score': 10.58}, {'connected_gene': 'LINC02210', 'score': 10.24}, {'connected_gene': 'ADAM11', 'score': 9.87}, {'connected_gene': 'DCAKD', 'score': 9.82}, {'connected_gene': 'ENSG00000266918', 'score': 5.91}, {'connected_gene': 'ENSG00000267505', 'score': 4.44}]
chr17 GH17I045070 45070540 45071993 0.2 [{'connected_gene': 'GC17P045072', 'score': 550.77}, {'connected_gene': 'ENSG00000200888', 'score': 550.77}, {'connected_gene': 'PLCD3', 'score': 9.81}, {'connected_gene': 'PIR53442', 'score': 0.44}, {'connected_gene': 'NMT1', 'score': 0.37}]
chr17 GH17I045087 45087573 45087722 0.51 [{'connected_gene': 'ENSG00000200888', 'score': 0.37}, {'connected_gene': 'MIR6784', 'score': 0.31}, {'connected_gene': 'NMT1', 'score': 0.28}]

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