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
ENST00000610041 [[160221297, 160221415], [160221704, 160221861], [160222144, 160222218], [160224302, 160224420], [160224996, 160225120], [160225580, 160225669], [160227014, 160227115], [160229771, 160229848], [160230046, 160230153]] [[160221339, 160221415], [160221704, 160221748]]
ENST00000610273 [[160221300, 160221415], [160221704, 160221861], [160222144, 160222218], [160224302, 160224342], [160224996, 160225120], [160225580, 160225669], [160227014, 160227115], [160229771, 160229848], [160230046, 160230190], [160231057, 160231127], [160232732, 160232818], [160234632, 160234688], [160237000, 160237065], [160237574, 160237628], [160238140, 160238183], [160239586, 160239686], [160239977, 160240153], [160240285, 160240384], [160241485, 160241735]] [[160221760, 160221861], [160222144, 160222218], [160224302, 160224342], [160224996, 160225120], [160225580, 160225669], [160227014, 160227115], [160229771, 160229848], [160230046, 160230190], [160231057, 160231127], [160232732, 160232818], [160234632, 160234688], [160237000, 160237065], [160237574, 160237628], [160238140, 160238183], [160239586, 160239686], [160239977, 160240153], [160240285, 160240384], [160241485, 160241549]]
ENST00000275275 [[160221300, 160221415], [160221704, 160221861], [160222144, 160222218], [160224302, 160224342], [160224996, 160225120], [160225580, 160225669], [160227014, 160227115], [160229771, 160229848], [160230046, 160230190], [160231057, 160231127], [160232732, 160232818], [160234632, 160234688], [160237000, 160237065], [160237574, 160237628], [160238140, 160238183], [160239586, 160239686], [160239977, 160240153], [160240285, 160240384], [160241485, 160241736]] [[160221339, 160221415], [160221704, 160221748]]
ENST00000610048 [[160221302, 160221415], [160221704, 160221861], [160224302, 160224342], [160224996, 160225120], [160225580, 160225669], [160227014, 160227069]] [[160221339, 160221415], [160221704, 160221748]]
ENST00000392167 [[160221305, 160221415], [160221803, 160221861], [160222144, 160222218], [160224302, 160224342], [160224996, 160225120], [160225580, 160225669], [160227014, 160227115], [160229771, 160229848], [160230046, 160230190], [160231057, 160231127], [160232732, 160232818], [160234632, 160234688], [160237000, 160237065], [160237574, 160237628], [160238140, 160238183], [160239586, 160239686], [160239977, 160240153], [160240285, 160240384], [160241485, 160241735]] [[160221339, 160221415], [160221803, 160221861], [160222144, 160222218], [160224302, 160224342], [160224996, 160225120], [160225580, 160225669], [160227014, 160227115], [160229771, 160229848], [160230046, 160230190], [160231057, 160231127], [160232732, 160232818], [160234632, 160234688], [160237000, 160237065], [160237574, 160237628], [160238140, 160238183], [160239586, 160239686], [160239977, 160240153], [160240285, 160240384], [160241485, 160241549]]
ENST00000609334 [[160221325, 160221411], [160221803, 160221861], [160222144, 160222218], [160224302, 160224342], [160224996, 160225120], [160225580, 160225669], [160226670, 160226770]] None
ENST00000609658 [[160229959, 160230190], [160231057, 160231127], [160234632, 160234688], [160237000, 160237065], [160237574, 160237627]] None
NM_001271862 [[160221280, 160221415], [160221803, 160221861], [160222144, 160222218], [160224302, 160224342], [160224996, 160225120], [160225580, 160225669], [160227014, 160227115], [160229771, 160229848], [160230046, 160230190], [160231057, 160231127], [160232732, 160232818], [160234632, 160234688], [160237000, 160237065], [160237574, 160237628], [160238140, 160238183], [160239586, 160239686], [160239977, 160240153], [160240285, 160240384], [160241485, 160241736]] [[160221339, 160221415], [160221803, 160221861], [160222144, 160222218], [160224302, 160224342], [160224996, 160225120], [160225580, 160225669], [160227014, 160227115], [160229771, 160229848], [160230046, 160230190], [160231057, 160231127], [160232732, 160232818], [160234632, 160234688], [160237000, 160237065], [160237574, 160237628], [160238140, 160238183], [160239586, 160239686], [160239977, 160240153], [160240285, 160240384], [160241485, 160241549]]
NM_173516 [[160221280, 160221415], [160221704, 160221861], [160222144, 160222218], [160224302, 160224342], [160224996, 160225120], [160225580, 160225669], [160227014, 160227115], [160229771, 160229848], [160230046, 160230190], [160231057, 160231127], [160232732, 160232818], [160234632, 160234688], [160237000, 160237065], [160237574, 160237628], [160238140, 160238183], [160239586, 160239686], [160239977, 160240153], [160240285, 160240384], [160241485, 160241736]] [[160221760, 160221861], [160222144, 160222218], [160224302, 160224342], [160224996, 160225120], [160225580, 160225669], [160227014, 160227115], [160229771, 160229848], [160230046, 160230190], [160231057, 160231127], [160232732, 160232818], [160234632, 160234688], [160237000, 160237065], [160237574, 160237628], [160238140, 160238183], [160239586, 160239686], [160239977, 160240153], [160240285, 160240384], [160241485, 160241549]]
Promoter
Chrom Start End Description
chr6 160221293 160221332 CAGE_peak_1_at_PNLDC1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I159725 159725556 159730972 2.35 [{'connected_gene': 'WTAP', 'score': 594.53}, {'connected_gene': 'GC06M159725', 'score': 550.77}, {'connected_gene': 'MRPL18', 'score': 39.81}, {'connected_gene': 'TCP1', 'score': 24.49}, {'connected_gene': 'PNLDC1', 'score': 23.84}, {'connected_gene': 'ACAT2', 'score': 11.96}, {'connected_gene': 'SOD2-OT1', 'score': 11.5}, {'connected_gene': 'SOD2', 'score': 11.5}, {'connected_gene': 'SNORA29', 'score': 11.48}, {'connected_gene': 'SNORA20', 'score': 11.23}, {'connected_gene': 'LOC729603', 'score': 11.21}, {'connected_gene': 'IGF2R', 'score': 4.96}, {'connected_gene': 'LOC105378085', 'score': 4.52}]
chr6 GH06I159740 159740986 159742709 0.59 [{'connected_gene': 'WTAP', 'score': 23.36}, {'connected_gene': 'PNLDC1', 'score': 23.32}, {'connected_gene': 'SOD2-OT1', 'score': 12.02}, {'connected_gene': 'SOD2', 'score': 12.02}, {'connected_gene': 'SNORA29', 'score': 11.23}, {'connected_gene': 'TCP1', 'score': 11.21}, {'connected_gene': 'SNORA20', 'score': 11.04}, {'connected_gene': 'MRPL18', 'score': 11.01}, {'connected_gene': 'GC06M159725', 'score': 0.39}, {'connected_gene': 'ACAT2', 'score': 0.37}]
chr6 GH06I159758 159758127 159759041 0.82 [{'connected_gene': 'ACAT2', 'score': 550.77}, {'connected_gene': 'MRPL18', 'score': 30.51}, {'connected_gene': 'PNLDC1', 'score': 13.34}, {'connected_gene': 'LOC105378085', 'score': 5.04}, {'connected_gene': 'SOD2-OT1', 'score': 0.77}, {'connected_gene': 'SOD2', 'score': 0.77}, {'connected_gene': 'GC06M159725', 'score': 0.29}]
chr6 GH06I159731 159731001 159731200 0.66 [{'connected_gene': 'ACAT2', 'score': 11.98}, {'connected_gene': 'SOD2-OT1', 'score': 11.5}, {'connected_gene': 'SOD2', 'score': 11.5}, {'connected_gene': 'SNORA29', 'score': 11.49}, {'connected_gene': 'TCP1', 'score': 11.48}, {'connected_gene': 'SNORA20', 'score': 11.25}, {'connected_gene': 'PNLDC1', 'score': 10.22}, {'connected_gene': 'GC06M159725', 'score': 0.77}, {'connected_gene': 'WTAP', 'score': 0.44}]
chr6 GH06I159683 159682429 159682578 0.4 [{'connected_gene': 'SNORA29', 'score': 10.44}, {'connected_gene': 'TCP1', 'score': 10.44}, {'connected_gene': 'PNLDC1', 'score': 10.43}, {'connected_gene': 'GC06M159668', 'score': 0.37}, {'connected_gene': 'PIR54448', 'score': 0.37}, {'connected_gene': 'GC06M159698', 'score': 0.37}, {'connected_gene': 'SOD2-OT1', 'score': 0.18}, {'connected_gene': 'SOD2', 'score': 0.18}]
chr6 GH06I159690 159690500 159696298 2.29 [{'connected_gene': 'SOD2', 'score': 562.45}, {'connected_gene': 'MRPL18', 'score': 32.74}, {'connected_gene': 'WTAP', 'score': 23.31}, {'connected_gene': 'PNLDC1', 'score': 17.01}, {'connected_gene': 'SOD2-OT1', 'score': 12.45}, {'connected_gene': 'ACAT2', 'score': 11.78}, {'connected_gene': 'SNORA29', 'score': 11.26}, {'connected_gene': 'TCP1', 'score': 11.25}, {'connected_gene': 'SNORA20', 'score': 10.87}, {'connected_gene': 'LOC105378085', 'score': 7.43}, {'connected_gene': 'GC06M159698', 'score': 0.44}, {'connected_gene': 'GC06M159668', 'score': 0.31}, {'connected_gene': 'PIR54448', 'score': 0.31}]
chr6 GH06I159714 159714999 159718150 1.46 [{'connected_gene': 'IGF2R', 'score': 28.87}, {'connected_gene': 'MRPL18', 'score': 27.94}, {'connected_gene': 'SOD2', 'score': 13.18}, {'connected_gene': 'WTAP', 'score': 10.49}, {'connected_gene': 'PNLDC1', 'score': 7.0}, {'connected_gene': 'RNU4ATAC18P', 'score': 0.77}, {'connected_gene': 'HNRNPH1P1', 'score': 0.77}, {'connected_gene': 'SOD2-OT1', 'score': 0.25}]
chr6 GH06I159685 159685479 159686805 0.31 [{'connected_gene': 'MRPL18', 'score': 29.87}, {'connected_gene': 'WTAP', 'score': 12.52}, {'connected_gene': 'SOD2-OT1', 'score': 12.43}, {'connected_gene': 'SOD2', 'score': 12.43}, {'connected_gene': 'ACAT2', 'score': 11.77}, {'connected_gene': 'SNORA29', 'score': 11.25}, {'connected_gene': 'TCP1', 'score': 11.25}, {'connected_gene': 'SNORA20', 'score': 10.87}, {'connected_gene': 'PNLDC1', 'score': 10.44}, {'connected_gene': 'GC06M159668', 'score': 0.37}, {'connected_gene': 'PIR54448', 'score': 0.37}, {'connected_gene': 'GC06M159698', 'score': 0.37}]
chr6 GH06I159787 159787304 159792731 2.1 [{'connected_gene': 'MRPL18', 'score': 614.17}, {'connected_gene': 'TCP1', 'score': 581.76}, {'connected_gene': 'WTAP', 'score': 60.33}, {'connected_gene': 'LOC729603', 'score': 21.69}, {'connected_gene': 'PNLDC1', 'score': 9.72}]
chr6 GH06I159679 159679559 159680728 0.63 [{'connected_gene': 'MRPL18', 'score': 31.0}, {'connected_gene': 'TCP1', 'score': 10.78}, {'connected_gene': 'SNORA29', 'score': 10.78}, {'connected_gene': 'WTAP', 'score': 10.69}, {'connected_gene': 'PNLDC1', 'score': 5.43}, {'connected_gene': 'GC06M159668', 'score': 0.39}, {'connected_gene': 'PIR54448', 'score': 0.39}, {'connected_gene': 'GC06M159698', 'score': 0.34}, {'connected_gene': 'SOD2-OT1', 'score': 0.18}, {'connected_gene': 'SOD2', 'score': 0.18}]
chr6 GH06I159684 159683889 159684038 0.51 [{'connected_gene': 'MRPL18', 'score': 19.99}, {'connected_gene': 'SNORA29', 'score': 10.44}, {'connected_gene': 'TCP1', 'score': 10.44}, {'connected_gene': 'PNLDC1', 'score': 10.43}, {'connected_gene': 'GC06M159668', 'score': 0.37}, {'connected_gene': 'PIR54448', 'score': 0.37}, {'connected_gene': 'GC06M159698', 'score': 0.37}, {'connected_gene': 'SOD2-OT1', 'score': 0.18}, {'connected_gene': 'SOD2', 'score': 0.18}]
chr6 GH06I159805 159805167 159807967 0.84 [{'connected_gene': 'MRPL18', 'score': 30.06}, {'connected_gene': 'SNORA29', 'score': 10.67}, {'connected_gene': 'SNORA20', 'score': 10.43}, {'connected_gene': 'ACAT2', 'score': 10.36}, {'connected_gene': 'PNLDC1', 'score': 0.44}, {'connected_gene': 'PIR41853', 'score': 0.34}, {'connected_gene': 'GC06P159828', 'score': 0.34}]
chr6 GH06I159737 159737383 159740202 0.31 [{'connected_gene': 'MRPL18', 'score': 51.37}, {'connected_gene': 'PNLDC1', 'score': 23.07}, {'connected_gene': 'ACAT2', 'score': 12.02}, {'connected_gene': 'SOD2-OT1', 'score': 12.02}, {'connected_gene': 'SOD2', 'score': 12.02}, {'connected_gene': 'SNORA20', 'score': 11.03}, {'connected_gene': 'TCP1', 'score': 11.0}, {'connected_gene': 'SNORA29', 'score': 10.9}, {'connected_gene': 'IGF2R', 'score': 6.61}, {'connected_gene': 'WTAP', 'score': 0.39}, {'connected_gene': 'GC06M159725', 'score': 0.39}]
chr6 GH06I159819 159819410 159821478 0.77 [{'connected_gene': 'MRPL18', 'score': 16.75}, {'connected_gene': 'PNLDC1', 'score': 12.35}, {'connected_gene': 'TCP1', 'score': 11.81}, {'connected_gene': 'SNORA29', 'score': 11.81}, {'connected_gene': 'SNORA20', 'score': 10.64}, {'connected_gene': 'ACAT2', 'score': 10.58}, {'connected_gene': 'SOD2-OT1', 'score': 10.32}, {'connected_gene': 'SOD2', 'score': 10.32}, {'connected_gene': 'SLC22A1', 'score': 6.31}, {'connected_gene': 'IGF2R', 'score': 5.4}, {'connected_gene': 'PIR41853', 'score': 0.44}, {'connected_gene': 'GC06P159828', 'score': 0.44}]
chr6 GH06I159680 159680968 159681783 0.4 [{'connected_gene': 'MRPL18', 'score': 17.83}, {'connected_gene': 'PNLDC1', 'score': 16.36}, {'connected_gene': 'SNORA29', 'score': 10.78}, {'connected_gene': 'TCP1', 'score': 10.78}, {'connected_gene': 'LOC105378085', 'score': 7.34}, {'connected_gene': 'GC06M159668', 'score': 0.39}, {'connected_gene': 'PIR54448', 'score': 0.39}, {'connected_gene': 'GC06M159698', 'score': 0.34}, {'connected_gene': 'SOD2-OT1', 'score': 0.18}, {'connected_gene': 'SOD2', 'score': 0.18}]
chr6 GH06I159642 159642168 159643367 0.31 [{'connected_gene': 'MRPL18', 'score': 14.33}, {'connected_gene': 'PNLDC1', 'score': 7.29}, {'connected_gene': 'GC06M159668', 'score': 0.34}, {'connected_gene': 'PIR54448', 'score': 0.34}, {'connected_gene': 'LOC105378085', 'score': 0.25}]
chr6 GH06I159831 159830249 159830334 0.2 [{'connected_gene': 'PNLDC1', 'score': 12.09}, {'connected_gene': 'TCP1', 'score': 11.71}, {'connected_gene': 'SNORA29', 'score': 11.71}, {'connected_gene': 'MRPL18', 'score': 11.71}, {'connected_gene': 'SNORA20', 'score': 11.13}, {'connected_gene': 'ACAT2', 'score': 11.09}, {'connected_gene': 'PIR41853', 'score': 0.77}, {'connected_gene': 'GC06P159828', 'score': 0.77}, {'connected_gene': 'GC06P159838', 'score': 0.44}]
chr6 GH06I159830 159830588 159831638 0.2 [{'connected_gene': 'PNLDC1', 'score': 12.09}, {'connected_gene': 'TCP1', 'score': 11.71}, {'connected_gene': 'MRPL18', 'score': 11.71}, {'connected_gene': 'SNORA29', 'score': 11.7}, {'connected_gene': 'SNORA20', 'score': 11.12}, {'connected_gene': 'ACAT2', 'score': 11.08}, {'connected_gene': 'LOC105378085', 'score': 7.14}, {'connected_gene': 'PIR41853', 'score': 0.77}, {'connected_gene': 'GC06P159828', 'score': 0.77}, {'connected_gene': 'GC06P159838', 'score': 0.44}]
chr6 GH06I159682 159682878 159683549 0.51 [{'connected_gene': 'PNLDC1', 'score': 15.74}, {'connected_gene': 'SNORA29', 'score': 10.44}, {'connected_gene': 'TCP1', 'score': 10.44}, {'connected_gene': 'MRPL18', 'score': 7.16}, {'connected_gene': 'GC06M159668', 'score': 0.37}, {'connected_gene': 'PIR54448', 'score': 0.37}, {'connected_gene': 'GC06M159698', 'score': 0.37}, {'connected_gene': 'SOD2-OT1', 'score': 0.18}, {'connected_gene': 'SOD2', 'score': 0.18}]
chr6 GH06I159888 159888676 159888770 0.41 [{'connected_gene': 'PNLDC1', 'score': 10.14}, {'connected_gene': 'MAS1', 'score': 2.48}, {'connected_gene': 'ENSG00000236823', 'score': 0.39}, {'connected_gene': 'GC06P159843', 'score': 0.25}]
chr6 GH06I159829 159829401 159830199 0.2 [{'connected_gene': 'PNLDC1', 'score': 12.11}, {'connected_gene': 'MRPL18', 'score': 11.73}, {'connected_gene': 'TCP1', 'score': 11.71}, {'connected_gene': 'SNORA29', 'score': 11.71}, {'connected_gene': 'SNORA20', 'score': 11.13}, {'connected_gene': 'ACAT2', 'score': 11.09}, {'connected_gene': 'LOC105378085', 'score': 5.36}, {'connected_gene': 'PIR41853', 'score': 0.77}, {'connected_gene': 'GC06P159828', 'score': 0.77}, {'connected_gene': 'GC06P159838', 'score': 0.44}]
chr6 GH06I159801 159800237 159800296 0.61 [{'connected_gene': 'PNLDC1', 'score': 563.03}, {'connected_gene': 'MRPL18', 'score': 11.62}, {'connected_gene': 'PIR41853', 'score': 0.31}, {'connected_gene': 'GC06P159828', 'score': 0.31}]
chr6 GH06I159800 159800124 159800183 0.61 [{'connected_gene': 'PNLDC1', 'score': 550.77}, {'connected_gene': 'MRPL18', 'score': 63.96}]
chr6 GH06I159593 159593713 159596164 0.88 [{'connected_gene': 'LOC105378085', 'score': 550.77}, {'connected_gene': 'MRPL18', 'score': 7.8}, {'connected_gene': 'PNLDC1', 'score': 6.63}, {'connected_gene': 'LOC729603', 'score': 4.71}, {'connected_gene': 'GC06M159546', 'score': 0.44}]
chr6 GH06I159759 159759605 159763569 2.07 [{'connected_gene': 'SOD2-OT1', 'score': 550.77}, {'connected_gene': 'ACAT2', 'score': 550.77}, {'connected_gene': 'SOD2', 'score': 550.77}, {'connected_gene': 'MRPL18', 'score': 43.1}, {'connected_gene': 'WTAP', 'score': 22.67}, {'connected_gene': 'PNLDC1', 'score': 10.36}]
chr6 GH06I159699 159699259 159702709 1.3 [{'connected_gene': 'GC06M159698', 'score': 550.77}, {'connected_gene': 'MRPL18', 'score': 35.87}, {'connected_gene': 'WTAP', 'score': 21.92}, {'connected_gene': 'PNLDC1', 'score': 15.67}, {'connected_gene': 'SOD2-OT1', 'score': 13.25}, {'connected_gene': 'SOD2', 'score': 13.25}, {'connected_gene': 'ACAT2', 'score': 11.44}, {'connected_gene': 'SNORA29', 'score': 10.63}, {'connected_gene': 'TCP1', 'score': 10.62}, {'connected_gene': 'GC06M159668', 'score': 0.29}, {'connected_gene': 'PIR54448', 'score': 0.29}]

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