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
ENST00000579649 [[5674957, 5674983], [5690343, 5690400], [5690516, 5690611], [5691329, 5691464], [5691542, 5691678]] [[5690518, 5690611], [5691329, 5691464], [5691542, 5691632]]
ENST00000582380 [[5681037, 5681282], [5690041, 5690338]] None
ENST00000577222 [[5681192, 5681282], [5684975, 5685130], [5690041, 5690338], [5690516, 5690611], [5691329, 5691464], [5691542, 5691644]] [[5690518, 5690611], [5691329, 5691464], [5691542, 5691632]]
ENST00000347512 [[5690206, 5690338], [5690516, 5690611], [5691329, 5691464], [5691542, 5691887]] [[5690518, 5690611], [5691329, 5691464], [5691542, 5691632]]
ENST00000582463 [[5690305, 5690338], [5690516, 5690611], [5690831, 5690942]] [[5690518, 5690611], [5690831, 5690942]]
ENST00000590786 [[5690316, 5690338], [5690516, 5691401]] None
ENST00000579446 [[5690316, 5690338], [5690516, 5690611], [5691329, 5691664]] [[5690518, 5690611], [5691329, 5691521]]
ENST00000394580 [[5690326, 5690611], [5691329, 5691464], [5691542, 5691678]] [[5690518, 5690611], [5691329, 5691464], [5691542, 5691632]]
NM_033643 [[5690271, 5690338], [5690516, 5690611], [5691329, 5691464], [5691542, 5691678]] [[5690518, 5690611], [5691329, 5691464], [5691542, 5691632]]
NM_015414 [[5690345, 5690611], [5691329, 5691464], [5691542, 5691678]] [[5690518, 5690611], [5691329, 5691464], [5691542, 5691632]]
Promoter
Chrom Start End Description
chr19 5690266 5690296 CAGE_peak_2_at_RPL36_5end
chr19 5690297 5690316 CAGE_peak_1_at_RPL36_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I005620 5620377 5626399 2.53 [{'connected_gene': 'SAFB2', 'score': 571.17}, {'connected_gene': 'SAFB', 'score': 570.34}, {'connected_gene': 'RPL36', 'score': 20.24}, {'connected_gene': 'KHSRP', 'score': 14.79}, {'connected_gene': 'DUS3L', 'score': 13.21}, {'connected_gene': 'KDM4B', 'score': 12.81}, {'connected_gene': 'DPP9-AS1', 'score': 12.67}, {'connected_gene': 'C19orf70', 'score': 11.79}, {'connected_gene': 'HSD11B1L', 'score': 11.79}, {'connected_gene': 'GTF2F1', 'score': 11.23}, {'connected_gene': 'RANBP3', 'score': 11.23}, {'connected_gene': 'ENSG00000267571', 'score': 11.09}, {'connected_gene': 'VMAC', 'score': 10.99}, {'connected_gene': 'PTPRS', 'score': 9.85}, {'connected_gene': 'LONP1', 'score': 9.78}, {'connected_gene': 'RFX2', 'score': 1.26}]
chr19 GH19I005585 5585176 5587482 0.99 [{'connected_gene': 'SAFB2', 'score': 19.83}, {'connected_gene': 'RPL36', 'score': 16.44}, {'connected_gene': 'KHSRP', 'score': 13.21}, {'connected_gene': 'GTF2F1', 'score': 12.93}, {'connected_gene': 'RANBP3', 'score': 10.38}, {'connected_gene': 'LONP1', 'score': 6.61}, {'connected_gene': 'SNRPEP4', 'score': 0.44}, {'connected_gene': 'GC19P005619', 'score': 0.29}]
chr19 GH19I005696 5696418 5697815 0.84 [{'connected_gene': 'LONP1', 'score': 42.92}, {'connected_gene': 'KHSRP', 'score': 24.85}, {'connected_gene': 'RPL36', 'score': 17.05}, {'connected_gene': 'SAFB2', 'score': 14.92}, {'connected_gene': 'SNRPEP4', 'score': 14.45}, {'connected_gene': 'DUS3L', 'score': 14.31}, {'connected_gene': 'SAFB', 'score': 11.58}, {'connected_gene': 'GC19P005701', 'score': 0.77}, {'connected_gene': 'GC19M005694', 'score': 0.44}, {'connected_gene': 'C19orf70', 'score': 0.37}]
chr19 GH19I005665 5665828 5668201 0.74 [{'connected_gene': 'LONP1', 'score': 39.39}, {'connected_gene': 'RPL36', 'score': 18.9}, {'connected_gene': 'SAFB2', 'score': 0.26}, {'connected_gene': 'SAFB', 'score': 0.26}]
chr19 GH19I005604 5604969 5606392 0.2 [{'connected_gene': 'LONP1', 'score': 38.27}, {'connected_gene': 'RPL36', 'score': 16.47}, {'connected_gene': 'GC19P005619', 'score': 0.39}, {'connected_gene': 'SAFB2', 'score': 0.37}, {'connected_gene': 'SNRPEP4', 'score': 0.31}]
chr19 GH19I005594 5594069 5595603 0.85 [{'connected_gene': 'LONP1', 'score': 26.31}, {'connected_gene': 'RPL36', 'score': 16.45}, {'connected_gene': 'SNRPEP4', 'score': 0.37}, {'connected_gene': 'GC19P005619', 'score': 0.34}, {'connected_gene': 'SAFB2', 'score': 0.31}]
chr19 GH19I005717 5717046 5721464 2.32 [{'connected_gene': 'LONP1', 'score': 556.12}, {'connected_gene': 'CATSPERD', 'score': 550.77}, {'connected_gene': 'DUS3L', 'score': 32.57}, {'connected_gene': 'ENSG00000267571', 'score': 32.4}, {'connected_gene': 'SAFB', 'score': 25.03}, {'connected_gene': 'KHSRP', 'score': 22.07}, {'connected_gene': 'KDM4B', 'score': 21.79}, {'connected_gene': 'RANBP3', 'score': 20.14}, {'connected_gene': 'RPL36', 'score': 19.99}, {'connected_gene': 'PTPRS', 'score': 12.93}, {'connected_gene': 'VMAC', 'score': 12.69}, {'connected_gene': 'SNRPEP4', 'score': 10.76}, {'connected_gene': 'GC19M005694', 'score': 0.39}]
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 GH19I005563 5563041 5565349 0.79 [{'connected_gene': 'KHSRP', 'score': 24.37}, {'connected_gene': 'LONP1', 'score': 17.31}, {'connected_gene': 'RPL36', 'score': 15.97}, {'connected_gene': 'SNRPEP4', 'score': 14.71}, {'connected_gene': 'DUS3L', 'score': 14.22}, {'connected_gene': 'RANBP3', 'score': 12.95}, {'connected_gene': 'TINCR', 'score': 0.77}, {'connected_gene': 'GC19M005554', 'score': 0.77}]
chr19 GH19I005690 5689310 5689499 0.84 [{'connected_gene': 'KHSRP', 'score': 110.1}, {'connected_gene': 'SNRPEP4', 'score': 96.2}, {'connected_gene': 'DUS3L', 'score': 85.63}, {'connected_gene': 'ENSG00000267571', 'score': 71.19}, {'connected_gene': 'SAFB', 'score': 68.57}, {'connected_gene': 'GTF2F1', 'score': 29.17}, {'connected_gene': 'PTPRS', 'score': 28.77}, {'connected_gene': 'SAFB2', 'score': 27.53}, {'connected_gene': 'RANBP3', 'score': 27.07}, {'connected_gene': 'KDM4B', 'score': 22.88}, {'connected_gene': 'RPL36', 'score': 21.51}, {'connected_gene': 'VMAC', 'score': 12.68}, {'connected_gene': 'C19orf70', 'score': 0.44}, {'connected_gene': 'GC19P005701', 'score': 0.39}]
chr19 GH19I006360 6360890 6363649 2.05 [{'connected_gene': 'CLPP', 'score': 557.55}, {'connected_gene': 'ENSG00000269802', 'score': 550.77}, {'connected_gene': 'GC19P006362', 'score': 550.77}, {'connected_gene': 'GC19P006361', 'score': 550.77}, {'connected_gene': 'SNRPEP4', 'score': 10.68}, {'connected_gene': 'ENSG00000267571', 'score': 10.64}, {'connected_gene': 'RPL36', 'score': 9.74}, {'connected_gene': 'GTF2F1', 'score': 8.31}, {'connected_gene': 'SLC25A41', 'score': 4.7}, {'connected_gene': 'ALKBH7', 'score': 0.39}]
chr19 GH19I005351 5351690 5352739 0.79 [{'connected_gene': 'SH3GL1', 'score': 13.66}, {'connected_gene': 'ENSG00000267255', 'score': 12.95}, {'connected_gene': 'ZNRF4', 'score': 11.0}, {'connected_gene': 'VMAC', 'score': 10.75}, {'connected_gene': 'RPL36', 'score': 10.64}, {'connected_gene': 'ENSG00000267571', 'score': 10.62}, {'connected_gene': 'SAFB2', 'score': 10.15}, {'connected_gene': 'DUS3L', 'score': 10.03}, {'connected_gene': 'HSD11B1L', 'score': 9.73}, {'connected_gene': 'PTPRS', 'score': 0.39}, {'connected_gene': 'GC19P005411', 'score': 0.22}]
chr19 GH19I005685 5685936 5687937 1.48 [{'connected_gene': 'PTPRS', 'score': 25.43}, {'connected_gene': 'LONP1', 'score': 12.32}, {'connected_gene': 'C19orf70', 'score': 0.44}, {'connected_gene': 'HSD11B1L', 'score': 0.44}, {'connected_gene': 'GC19P005701', 'score': 0.39}, {'connected_gene': 'RPL36', 'score': 0.39}]
chr19 GH19I005789 5789432 5791812 2.1 [{'connected_gene': 'DUS3L', 'score': 629.92}, {'connected_gene': 'KHSRP', 'score': 31.96}, {'connected_gene': 'ENSG00000267571', 'score': 25.54}, {'connected_gene': 'SAFB', 'score': 23.14}, {'connected_gene': 'GPR108', 'score': 22.61}, {'connected_gene': 'VMAC', 'score': 22.31}, {'connected_gene': 'SNRPEP4', 'score': 21.41}, {'connected_gene': 'KDM4B', 'score': 11.53}, {'connected_gene': 'PTPRS', 'score': 11.53}, {'connected_gene': 'RPL36', 'score': 10.72}, {'connected_gene': 'GTF2F1', 'score': 9.96}, {'connected_gene': 'ENSG00000267157', 'score': 0.44}]
chr19 GH19I005308 5308354 5309999 1.22 [{'connected_gene': 'DUS3L', 'score': 89.04}, {'connected_gene': 'ENSG00000267030', 'score': 71.9}, {'connected_gene': 'ENSG00000267571', 'score': 55.82}, {'connected_gene': 'PTPRS', 'score': 48.52}, {'connected_gene': 'SAFB', 'score': 46.09}, {'connected_gene': 'VMAC', 'score': 45.44}, {'connected_gene': 'SAFB2', 'score': 42.66}, {'connected_gene': 'ENSG00000267255', 'score': 38.9}, {'connected_gene': 'RANBP3', 'score': 37.24}, {'connected_gene': 'ENSG00000267769', 'score': 37.14}, {'connected_gene': 'KDM4B', 'score': 31.52}, {'connected_gene': 'SH3GL1', 'score': 30.35}, {'connected_gene': 'DPP9-AS1', 'score': 23.89}, {'connected_gene': 'SNRPEP4', 'score': 23.01}, {'connected_gene': 'ENSG00000269807', 'score': 11.12}, {'connected_gene': 'RPL36', 'score': 10.64}, {'connected_gene': 'ZNRF4', 'score': 10.24}, {'connected_gene': 'HDGFL2', 'score': 9.82}, {'connected_gene': 'LOC105372253', 'score': 0.37}, {'connected_gene': 'LOC105372252', 'score': 0.31}]
chr19 GH19I005826 5826274 5830002 1.51 [{'connected_gene': 'DUS3L', 'score': 41.71}, {'connected_gene': 'ENSG00000267571', 'score': 34.97}, {'connected_gene': 'VMAC', 'score': 33.25}, {'connected_gene': 'GPR108', 'score': 22.61}, {'connected_gene': 'NDUFA11', 'score': 15.53}, {'connected_gene': 'PTPRS', 'score': 13.17}, {'connected_gene': 'PRR22', 'score': 12.2}, {'connected_gene': 'SAFB', 'score': 12.12}, {'connected_gene': 'CATSPERD', 'score': 12.09}, {'connected_gene': 'KDM4B', 'score': 11.53}, {'connected_gene': 'SAFB2', 'score': 11.51}, {'connected_gene': 'FUT5', 'score': 11.15}, {'connected_gene': 'RPL36', 'score': 10.69}, {'connected_gene': 'KHSRP', 'score': 10.62}, {'connected_gene': 'GTF2F1', 'score': 10.27}, {'connected_gene': 'SNRPEP4', 'score': 9.69}, {'connected_gene': 'NRTN', 'score': 7.78}, {'connected_gene': 'FUT6', 'score': 5.7}, {'connected_gene': 'GC19M005817', 'score': 0.44}]
chr19 GH19I005434 5434451 5437369 1.15 [{'connected_gene': 'DUS3L', 'score': 22.43}, {'connected_gene': 'SNRPEP4', 'score': 14.43}, {'connected_gene': 'KHSRP', 'score': 14.16}, {'connected_gene': 'VMAC', 'score': 10.77}, {'connected_gene': 'RPL36', 'score': 10.66}, {'connected_gene': 'ENSG00000267571', 'score': 10.64}, {'connected_gene': 'ZNRF4', 'score': 0.37}, {'connected_gene': 'GC19P005411', 'score': 0.31}]
chr19 GH19I005679 5679192 5681686 2.08 [{'connected_gene': 'HSD11B1L', 'score': 560.44}, {'connected_gene': 'C19orf70', 'score': 550.77}, {'connected_gene': 'DUS3L', 'score': 44.67}, {'connected_gene': 'SAFB', 'score': 34.45}, {'connected_gene': 'KHSRP', 'score': 32.28}, {'connected_gene': 'ENSG00000267571', 'score': 32.02}, {'connected_gene': 'KDM4B', 'score': 31.52}, {'connected_gene': 'RANBP3', 'score': 31.23}, {'connected_gene': 'SAFB2', 'score': 19.9}, {'connected_gene': 'GTF2F1', 'score': 19.36}, {'connected_gene': 'RPL36', 'score': 18.9}, {'connected_gene': 'ACSBG2', 'score': 16.27}, {'connected_gene': 'TICAM1', 'score': 15.87}, {'connected_gene': 'PTPRS', 'score': 13.18}, {'connected_gene': 'VMAC', 'score': 12.67}, {'connected_gene': 'DPP9', 'score': 9.65}]
chr19 GH19I005666 5665356 5665674 0.31 [{'connected_gene': 'RPL36', 'score': 17.27}, {'connected_gene': 'SAFB2', 'score': 0.26}, {'connected_gene': 'SAFB', 'score': 0.26}]
chr19 GH19I005689 5689610 5694593 2.13 [{'connected_gene': 'RPL36', 'score': 583.69}, {'connected_gene': 'DUS3L', 'score': 159.5}, {'connected_gene': 'KHSRP', 'score': 148.74}, {'connected_gene': 'ENSG00000267571', 'score': 127.24}, {'connected_gene': 'SAFB', 'score': 119.76}, {'connected_gene': 'SNRPEP4', 'score': 112.63}, {'connected_gene': 'VMAC', 'score': 56.83}, {'connected_gene': 'SAFB2', 'score': 50.22}, {'connected_gene': 'PTPRS', 'score': 49.27}, {'connected_gene': 'KDM4B', 'score': 49.12}, {'connected_gene': 'RANBP3', 'score': 45.38}, {'connected_gene': 'GTF2F1', 'score': 37.35}, {'connected_gene': 'LONP1', 'score': 32.71}, {'connected_gene': 'SLC25A41', 'score': 5.06}, {'connected_gene': 'GC19P005701', 'score': 0.44}, {'connected_gene': 'C19orf70', 'score': 0.39}, {'connected_gene': 'GC19M005694', 'score': 0.39}]
chr19 GH19I005674 5674978 5677968 0.52 [{'connected_gene': 'RPL36', 'score': 569.24}, {'connected_gene': 'HSD11B1L', 'score': 0.77}]
chr19 GH19I005557 5557269 5558529 0.46 [{'connected_gene': 'RPL36', 'score': 16.11}, {'connected_gene': 'GC19M005554', 'score': 0.77}, {'connected_gene': 'TINCR', 'score': 0.39}, {'connected_gene': 'GC19M005514', 'score': 0.26}]
chr19 GH19I005626 5626712 5630039 1.33 [{'connected_gene': 'RPL36', 'score': 28.81}, {'connected_gene': 'SNRPEP4', 'score': 14.92}, {'connected_gene': 'KHSRP', 'score': 12.33}, {'connected_gene': 'C19orf70', 'score': 11.53}, {'connected_gene': 'HSD11B1L', 'score': 11.53}, {'connected_gene': 'ENSG00000267571', 'score': 11.0}, {'connected_gene': 'DUS3L', 'score': 10.62}, {'connected_gene': 'SAFB2', 'score': 0.77}, {'connected_gene': 'SAFB', 'score': 0.44}]
chr19 GH19I004719 4719392 4720796 0.83 [{'connected_gene': 'SNRPEP4', 'score': 84.73}, {'connected_gene': 'ENSG00000267030', 'score': 79.56}, {'connected_gene': 'CCDC94', 'score': 75.54}, {'connected_gene': 'SAFB', 'score': 67.9}, {'connected_gene': 'ENSG00000267769', 'score': 64.46}, {'connected_gene': 'APBA3', 'score': 61.62}, {'connected_gene': 'ENSG00000269807', 'score': 39.04}, {'connected_gene': 'SAFB2', 'score': 30.13}, {'connected_gene': 'PTPRS', 'score': 29.81}, {'connected_gene': 'DPP9-AS1', 'score': 28.69}, {'connected_gene': 'KDM4B', 'score': 22.92}, {'connected_gene': 'SH3GL1', 'score': 19.69}, {'connected_gene': 'HDGFL2', 'score': 13.26}, {'connected_gene': 'ENSG00000268670', 'score': 11.13}, {'connected_gene': 'ENSG00000267255', 'score': 10.12}, {'connected_gene': 'ENSG00000267138', 'score': 9.78}, {'connected_gene': 'RPL36', 'score': 9.74}, {'connected_gene': 'DPP9', 'score': 5.31}, {'connected_gene': 'HSD11B1L', 'score': 4.6}, {'connected_gene': 'LOC105372250', 'score': 0.77}, {'connected_gene': 'GC19M004658', 'score': 0.28}]
chr19 GH19I005577 5577490 5578654 1.05 [{'connected_gene': 'SNRPEP4', 'score': 550.77}, {'connected_gene': 'GC19M005580', 'score': 550.77}, {'connected_gene': 'RPL36', 'score': 16.43}, {'connected_gene': 'DUS3L', 'score': 14.16}, {'connected_gene': 'RANBP3', 'score': 11.29}, {'connected_gene': 'LONP1', 'score': 7.36}, {'connected_gene': 'GC19P005571', 'score': 0.44}, {'connected_gene': 'GC19P005619', 'score': 0.26}]
chr19 GH19I005572 5572035 5573460 0.56 [{'connected_gene': 'GC19P005571', 'score': 550.77}, {'connected_gene': 'RPL36', 'score': 14.86}, {'connected_gene': 'GC19M005580', 'score': 0.77}]

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