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
ENST00000474844 [[46805848, 46806591], [46810472, 46810816], [46812592, 46812747], [46818539, 46818700], [46826375, 46826500], [46827241, 46827863]] [[46806498, 46806591], [46810472, 46810816], [46812592, 46812747], [46818539, 46818700], [46826375, 46826500], [46827241, 46827518]]
ENST00000307089 [[46806460, 46806591], [46810472, 46810816], [46818539, 46818700], [46826375, 46826500], [46827241, 46830824]] [[46806498, 46806591], [46810472, 46810816], [46818539, 46818558]]
ENST00000486270 [[46806473, 46806591], [46810453, 46810816], [46812592, 46812747], [46818539, 46818700], [46826375, 46826500]] None
ENST00000536062 [[46806478, 46806591], [46806994, 46807169], [46810472, 46810816], [46812592, 46812747], [46818539, 46818700], [46826375, 46826500], [46827241, 46827666]] [[46810526, 46810816], [46812592, 46812747], [46818539, 46818700], [46826375, 46826500], [46827241, 46827518]]
ENST00000469918 [[46806491, 46806591], [46806994, 46807169], [46810472, 46810816], [46812592, 46812747], [46818539, 46818630]] None
ENST00000472157 [[46806500, 46806591], [46806994, 46807267]] None
ENST00000471871 [[46806858, 46807537], [46810472, 46810816], [46812592, 46812747], [46818539, 46818700], [46826375, 46826500], [46827241, 46827864]] None
ENST00000537428 [[46806875, 46807169], [46810472, 46810816], [46812592, 46812747], [46818539, 46818700], [46826375, 46826500], [46827241, 46827782]] [[46810526, 46810816], [46812592, 46812747], [46818539, 46818700], [46826375, 46826500], [46827241, 46827518]]
ENST00000498008 [[46807507, 46809966], [46810472, 46810816], [46812592, 46812747], [46818539, 46818700], [46826375, 46826500], [46827241, 46827864]] None
ENST00000495427 [[46809064, 46809966], [46810472, 46810634], [46812592, 46812747], [46818539, 46818700], [46826375, 46826500], [46827241, 46827862]] None
ENST00000475281 [[46809683, 46809966], [46810472, 46811046]] None
NR_045791 [[46805848, 46806591], [46810472, 46810634], [46818539, 46818700], [46826375, 46826500], [46827241, 46830824]] None
NR_045790 [[46805848, 46806591], [46810472, 46810816], [46818539, 46818700], [46826375, 46826500], [46827241, 46830824]] None
NM_199044 [[46805848, 46806591], [46810472, 46810816], [46812592, 46812747], [46818539, 46818700], [46826375, 46826500], [46827241, 46830824]] [[46806498, 46806591], [46810472, 46810816], [46812592, 46812747], [46818539, 46818700], [46826375, 46826500], [46827241, 46827518]]
NR_045789 [[46805848, 46806591], [46806994, 46807169], [46810472, 46810816], [46812592, 46812747], [46818539, 46818700], [46826375, 46826500], [46827241, 46830824]] None
NM_001256128 [[46806849, 46807169], [46810472, 46810816], [46812592, 46812747], [46818539, 46818700], [46826375, 46826500], [46827241, 46830824]] [[46810526, 46810816], [46812592, 46812747], [46818539, 46818700], [46826375, 46826500], [46827241, 46827518]]
NM_001256127 [[46806849, 46807537], [46810472, 46810816], [46812592, 46812747], [46818539, 46818700], [46826375, 46826500], [46827241, 46830824]] [[46810526, 46810816], [46812592, 46812747], [46818539, 46818700], [46826375, 46826500], [46827241, 46827518]]
Promoter
Chrom Start End Description
chr1 46805832 46805874 CAGE_peak_4_at_NSUN4_5end
chr1 46806383 46806450 CAGE_peak_2_at_NSUN4_5end
chr1 46806452 46806496 CAGE_peak_1_at_NSUN4_5end
chr1 46806837 46806885 CAGE_peak_3_at_NSUN4_5end
chr1 46806893 46806910 CAGE_peak_5_at_NSUN4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I046717 46717114 46720455 2.29 [{'connected_gene': 'EFCAB14', 'score': 574.29}, {'connected_gene': 'PIR52630', 'score': 550.77}, {'connected_gene': 'LRRC41', 'score': 90.84}, {'connected_gene': 'EFCAB14-AS1', 'score': 31.42}, {'connected_gene': 'NSUN4', 'score': 23.41}, {'connected_gene': 'TEX38', 'score': 11.07}, {'connected_gene': 'LINC01389', 'score': 10.95}, {'connected_gene': 'CYP4B1', 'score': 10.83}, {'connected_gene': 'MOB3C', 'score': 10.43}, {'connected_gene': 'NENFP1', 'score': 10.04}, {'connected_gene': 'ATPAF1', 'score': 6.75}, {'connected_gene': 'LOC105378698', 'score': 0.29}]
chr1 GH01I046129 46129800 46136106 2.14 [{'connected_gene': 'PIK3R3', 'score': 561.09}, {'connected_gene': 'LOC101929626', 'score': 550.77}, {'connected_gene': 'TOE1', 'score': 80.94}, {'connected_gene': 'GPBP1L1', 'score': 76.88}, {'connected_gene': 'LRRC41', 'score': 76.4}, {'connected_gene': 'RPL7AP16', 'score': 49.25}, {'connected_gene': 'EFCAB14-AS1', 'score': 41.4}, {'connected_gene': 'RPS15AP10', 'score': 31.65}, {'connected_gene': 'MOB3C', 'score': 28.77}, {'connected_gene': 'TMEM69', 'score': 27.57}, {'connected_gene': 'CCDC163', 'score': 27.47}, {'connected_gene': 'MAST2', 'score': 26.46}, {'connected_gene': 'LURAP1', 'score': 18.95}, {'connected_gene': 'MUTYH', 'score': 14.17}, {'connected_gene': 'TSPAN1', 'score': 11.21}, {'connected_gene': 'LOC110117498', 'score': 11.09}, {'connected_gene': 'NSUN4', 'score': 10.96}, {'connected_gene': 'TESK2', 'score': 10.77}, {'connected_gene': 'ENSG00000226957', 'score': 10.6}, {'connected_gene': 'NASP', 'score': 10.55}, {'connected_gene': 'ZSWIM5', 'score': 9.72}, {'connected_gene': 'ENSG00000230896', 'score': 4.74}, {'connected_gene': 'ENSG00000233114', 'score': 0.31}, {'connected_gene': 'LOC110117498-PIK3R3', 'score': 0.26}]
chr1 GH01I046246 46246448 46249571 2.31 [{'connected_gene': 'RAD54L', 'score': 550.77}, {'connected_gene': 'GC01M046246', 'score': 550.77}, {'connected_gene': 'TOE1', 'score': 68.36}, {'connected_gene': 'LRRC41', 'score': 68.03}, {'connected_gene': 'GPBP1L1', 'score': 51.55}, {'connected_gene': 'EFCAB14-AS1', 'score': 43.03}, {'connected_gene': 'NSUN4', 'score': 28.01}, {'connected_gene': 'RPL7AP16', 'score': 25.25}, {'connected_gene': 'NASP', 'score': 21.43}, {'connected_gene': 'MOB3C', 'score': 20.35}, {'connected_gene': 'MUTYH', 'score': 15.71}, {'connected_gene': 'IPP', 'score': 12.86}, {'connected_gene': 'RPS15AP10', 'score': 11.27}, {'connected_gene': 'TMEM69', 'score': 10.88}, {'connected_gene': 'GC01M046227', 'score': 0.25}]
chr1 GH01I046393 46393729 46395416 1.99 [{'connected_gene': 'FAAH', 'score': 550.77}, {'connected_gene': 'NSUN4', 'score': 38.48}, {'connected_gene': 'LRRC41', 'score': 15.8}, {'connected_gene': 'NASP', 'score': 10.3}, {'connected_gene': 'FAAHP1', 'score': 0.28}]
chr1 GH01I047224 47224506 47233276 2.17 [{'connected_gene': 'TAL1', 'score': 567.65}, {'connected_gene': 'LRRC41', 'score': 14.7}, {'connected_gene': 'PDZK1IP1', 'score': 13.24}, {'connected_gene': 'LINC01389', 'score': 11.0}, {'connected_gene': 'NSUN4', 'score': 10.91}, {'connected_gene': 'EFCAB14-AS1', 'score': 10.18}, {'connected_gene': 'FOXE3', 'score': 7.15}, {'connected_gene': 'ENSG00000226252', 'score': 0.77}]
chr1 GH01I047312 47312493 47315585 2.27 [{'connected_gene': 'STIL', 'score': 550.77}, {'connected_gene': 'EFCAB14-AS1', 'score': 34.66}, {'connected_gene': 'NSUN4', 'score': 20.61}, {'connected_gene': 'MOB3C', 'score': 20.33}, {'connected_gene': 'CMPK1', 'score': 13.1}, {'connected_gene': 'ENSG00000272491', 'score': 11.49}, {'connected_gene': 'LINC01389', 'score': 10.82}, {'connected_gene': 'FOXE3', 'score': 6.48}, {'connected_gene': 'GC01M047303', 'score': 0.44}]
chr1 GH01I045684 45684400 45689540 2.34 [{'connected_gene': 'GPBP1L1', 'score': 617.23}, {'connected_gene': 'TMEM69', 'score': 550.77}, {'connected_gene': 'LRRC41', 'score': 75.95}, {'connected_gene': 'TOE1', 'score': 73.18}, {'connected_gene': 'RPS8', 'score': 39.41}, {'connected_gene': 'RPL7AP16', 'score': 36.32}, {'connected_gene': 'EFCAB14-AS1', 'score': 32.3}, {'connected_gene': 'HECTD3', 'score': 28.64}, {'connected_gene': 'MAST2', 'score': 23.58}, {'connected_gene': 'RPS15AP10', 'score': 20.37}, {'connected_gene': 'IPP', 'score': 18.01}, {'connected_gene': 'MUTYH', 'score': 14.2}, {'connected_gene': 'PTCH2', 'score': 13.88}, {'connected_gene': 'LURAP1', 'score': 13.44}, {'connected_gene': 'ZSWIM5', 'score': 12.76}, {'connected_gene': 'NSUN4', 'score': 10.91}, {'connected_gene': 'MOB3C', 'score': 10.65}]
chr1 GH01I046196 46196824 46199667 2.17 [{'connected_gene': 'POMGNT1', 'score': 561.89}, {'connected_gene': 'LURAP1', 'score': 36.54}, {'connected_gene': 'TOE1', 'score': 31.11}, {'connected_gene': 'GPBP1L1', 'score': 19.22}, {'connected_gene': 'LRRC41', 'score': 14.82}, {'connected_gene': 'PIK3R3', 'score': 11.45}, {'connected_gene': 'TSPAN1', 'score': 11.45}, {'connected_gene': 'LOC110117498', 'score': 11.45}, {'connected_gene': 'RAD54L', 'score': 11.16}, {'connected_gene': 'RPL7AP16', 'score': 11.13}, {'connected_gene': 'NSUN4', 'score': 11.0}, {'connected_gene': 'MUTYH', 'score': 10.59}, {'connected_gene': 'ZSWIM5', 'score': 10.33}, {'connected_gene': 'EFCAB14-AS1', 'score': 10.19}]
chr1 GH01I046202 46202529 46206948 1.96 [{'connected_gene': 'LURAP1', 'score': 592.71}, {'connected_gene': 'NSUN4', 'score': 24.71}, {'connected_gene': 'ZSWIM5', 'score': 14.36}, {'connected_gene': 'RAD54L', 'score': 11.78}, {'connected_gene': 'PIK3R3', 'score': 11.43}, {'connected_gene': 'TSPAN1', 'score': 11.43}, {'connected_gene': 'LOC110117498', 'score': 11.43}, {'connected_gene': 'MUTYH', 'score': 9.91}, {'connected_gene': 'POMGNT1', 'score': 4.48}]
chr1 GH01I045520 45520000 45523699 2.15 [{'connected_gene': 'PRDX1', 'score': 576.06}, {'connected_gene': 'CCDC163', 'score': 98.48}, {'connected_gene': 'TOE1', 'score': 76.85}, {'connected_gene': 'LRRC41', 'score': 65.93}, {'connected_gene': 'MUTYH', 'score': 54.01}, {'connected_gene': 'GPBP1L1', 'score': 49.18}, {'connected_gene': 'RPS8', 'score': 31.05}, {'connected_gene': 'RPL7AP16', 'score': 26.87}, {'connected_gene': 'NASP', 'score': 21.87}, {'connected_gene': 'ZSWIM5', 'score': 20.79}, {'connected_gene': 'HECTD3', 'score': 19.99}, {'connected_gene': 'PTCH2', 'score': 14.15}, {'connected_gene': 'AKR1A1', 'score': 13.34}, {'connected_gene': 'RPS15AP10', 'score': 12.09}, {'connected_gene': 'NSUN4', 'score': 10.24}, {'connected_gene': 'CCDC17', 'score': 10.19}, {'connected_gene': 'MMACHC', 'score': 4.66}, {'connected_gene': 'PIR60929', 'score': 0.44}]
chr1 GH01I046169 46169748 46170305 0.49 [{'connected_gene': 'NSUN4', 'score': 10.76}, {'connected_gene': 'PIK3R3', 'score': 0.44}, {'connected_gene': 'LOC110117498-PIK3R3', 'score': 0.44}, {'connected_gene': 'TSPAN1', 'score': 0.44}, {'connected_gene': 'LOC101929626', 'score': 0.28}]
chr1 GH01I046373 46373401 46374527 0.57 [{'connected_gene': 'NSUN4', 'score': 38.83}, {'connected_gene': 'LURAP1', 'score': 18.44}, {'connected_gene': 'FAAH', 'score': 9.08}, {'connected_gene': 'ENSG00000225779', 'score': 0.77}]
chr1 GH01I047023 47023600 47023801 1.16 [{'connected_gene': 'NSUN4', 'score': 14.97}, {'connected_gene': 'TEX38', 'score': 11.86}, {'connected_gene': 'LRRC41', 'score': 11.48}, {'connected_gene': 'GC01M047004', 'score': 0.44}, {'connected_gene': 'CYP4Z1', 'score': 0.26}, {'connected_gene': 'CYP4X1', 'score': 0.21}]
chr1 GH01I046338 46338783 46344313 2.33 [{'connected_gene': 'NSUN4', 'score': 601.39}, {'connected_gene': 'LRRC41', 'score': 39.35}, {'connected_gene': 'GPBP1L1', 'score': 34.49}, {'connected_gene': 'LURAP1', 'score': 23.45}, {'connected_gene': 'RPL7AP16', 'score': 22.86}, {'connected_gene': 'EFCAB14-AS1', 'score': 18.92}, {'connected_gene': 'UQCRH', 'score': 12.4}, {'connected_gene': 'RPS15AP10', 'score': 11.99}, {'connected_gene': 'MOB3C', 'score': 10.68}, {'connected_gene': 'PIK3R3', 'score': 10.64}, {'connected_gene': 'CYP4B1', 'score': 10.6}, {'connected_gene': 'FAAH', 'score': 7.44}, {'connected_gene': 'GC01M046344', 'score': 0.77}, {'connected_gene': 'PIR34500', 'score': 0.77}]
chr1 GH01I046347 46347709 46348446 0.98 [{'connected_gene': 'NSUN4', 'score': 47.8}, {'connected_gene': 'LRRC41', 'score': 26.3}, {'connected_gene': 'EFCAB14-AS1', 'score': 19.27}, {'connected_gene': 'GPBP1L1', 'score': 19.21}, {'connected_gene': 'UQCRH', 'score': 11.63}, {'connected_gene': 'RPL7AP16', 'score': 11.12}, {'connected_gene': 'CYP4B1', 'score': 10.6}, {'connected_gene': 'LURAP1', 'score': 6.23}, {'connected_gene': 'GC01M046344', 'score': 0.77}, {'connected_gene': 'ENSG00000225779', 'score': 0.34}]
chr1 GH01I047024 47023526 47023585 1.21 [{'connected_gene': 'CYP4X1', 'score': 550.21}, {'connected_gene': 'NSUN4', 'score': 23.41}, {'connected_gene': 'TEX38', 'score': 20.5}, {'connected_gene': 'LRRC41', 'score': 11.48}, {'connected_gene': 'LURAP1', 'score': 11.01}, {'connected_gene': 'POMGNT1', 'score': 10.75}, {'connected_gene': 'GC01M047004', 'score': 0.44}, {'connected_gene': 'CYP4Z1', 'score': 0.26}]
chr1 GH01I046489 46489729 46489858 0.81 [{'connected_gene': 'DMBX1', 'score': 550.77}, {'connected_gene': 'GPBP1L1', 'score': 26.45}, {'connected_gene': 'EFCAB14-AS1', 'score': 22.88}, {'connected_gene': 'LRRC41', 'score': 22.03}, {'connected_gene': 'NSUN4', 'score': 20.69}, {'connected_gene': 'RPL7AP16', 'score': 12.96}, {'connected_gene': 'MOB3C', 'score': 12.24}, {'connected_gene': 'LINC01389', 'score': 10.72}, {'connected_gene': 'LINC01398', 'score': 0.28}]
chr1 GH01I046441 46441929 46443387 1.55 [{'connected_gene': 'LRRC41', 'score': 23.82}, {'connected_gene': 'GPBP1L1', 'score': 14.89}, {'connected_gene': 'RPL7AP16', 'score': 14.63}, {'connected_gene': 'NSUN4', 'score': 14.39}, {'connected_gene': 'RPS15AP10', 'score': 11.99}, {'connected_gene': 'TEX38', 'score': 10.9}, {'connected_gene': 'MOB3C', 'score': 10.72}, {'connected_gene': 'EFCAB14-AS1', 'score': 9.86}, {'connected_gene': 'PRDX1', 'score': 4.07}, {'connected_gene': 'LINC01398', 'score': 0.44}, {'connected_gene': 'FAAHP1', 'score': 0.39}]
chr1 GH01I045489 45489789 45492029 2.06 [{'connected_gene': 'TESK2', 'score': 550.77}, {'connected_gene': 'CCDC163', 'score': 98.58}, {'connected_gene': 'NSUN4', 'score': 28.55}, {'connected_gene': 'PRDX1', 'score': 25.58}, {'connected_gene': 'LRRC41', 'score': 22.72}, {'connected_gene': 'TOE1', 'score': 14.16}, {'connected_gene': 'IPP', 'score': 12.89}, {'connected_gene': 'GPBP1L1', 'score': 11.61}, {'connected_gene': 'KIF2C', 'score': 10.27}, {'connected_gene': 'ZSWIM5', 'score': 6.46}, {'connected_gene': 'MMACHC', 'score': 4.86}, {'connected_gene': 'PPIAP36', 'score': 0.18}]
chr1 GH01I046178 46178988 46185981 1.96 [{'connected_gene': 'TSPAN1', 'score': 550.44}, {'connected_gene': 'GPBP1L1', 'score': 56.14}, {'connected_gene': 'TOE1', 'score': 42.54}, {'connected_gene': 'RPL7AP16', 'score': 41.86}, {'connected_gene': 'LRRC41', 'score': 40.9}, {'connected_gene': 'EFCAB14-AS1', 'score': 31.82}, {'connected_gene': 'LURAP1', 'score': 23.05}, {'connected_gene': 'RPS15AP10', 'score': 19.52}, {'connected_gene': 'TMEM69', 'score': 18.5}, {'connected_gene': 'CCDC163', 'score': 14.42}, {'connected_gene': 'CCDC17', 'score': 11.51}, {'connected_gene': 'NSUN4', 'score': 10.99}, {'connected_gene': 'PIK3R3', 'score': 0.44}]
chr1 GH01I046170 46170824 46175832 2.08 [{'connected_gene': 'TSPAN1', 'score': 550.77}, {'connected_gene': 'NASP', 'score': 36.84}, {'connected_gene': 'LRRC41', 'score': 33.0}, {'connected_gene': 'TOE1', 'score': 29.17}, {'connected_gene': 'NSUN4', 'score': 25.09}, {'connected_gene': 'MUTYH', 'score': 22.48}, {'connected_gene': 'TEX38', 'score': 11.85}, {'connected_gene': 'LURAP1', 'score': 11.0}, {'connected_gene': 'RPL7AP16', 'score': 10.65}, {'connected_gene': 'RPS15AP10', 'score': 10.46}, {'connected_gene': 'CCDC163', 'score': 9.56}, {'connected_gene': 'PRDX1', 'score': 4.34}, {'connected_gene': 'LOC110117498-PIK3R3', 'score': 0.77}, {'connected_gene': 'LOC105378695', 'score': 0.77}, {'connected_gene': 'LOC110117498', 'score': 0.77}, {'connected_gene': 'PIK3R3', 'score': 0.77}, {'connected_gene': 'LOC101929626', 'score': 0.28}]
chr1 GH01I045582 45582131 45587567 2.09 [{'connected_gene': 'GC01M045583', 'score': 550.77}, {'connected_gene': 'NASP', 'score': 550.77}, {'connected_gene': 'GPBP1L1', 'score': 82.98}, {'connected_gene': 'TOE1', 'score': 76.58}, {'connected_gene': 'LRRC41', 'score': 68.35}, {'connected_gene': 'RPL7AP16', 'score': 47.33}, {'connected_gene': 'MUTYH', 'score': 43.01}, {'connected_gene': 'CCDC163', 'score': 37.82}, {'connected_gene': 'HECTD3', 'score': 37.18}, {'connected_gene': 'RPS8', 'score': 31.05}, {'connected_gene': 'ZSWIM5', 'score': 14.4}, {'connected_gene': 'RPS15AP10', 'score': 12.17}, {'connected_gene': 'CCDC17', 'score': 12.14}, {'connected_gene': 'NSUN4', 'score': 10.91}, {'connected_gene': 'LURAP1', 'score': 10.75}, {'connected_gene': 'IPP', 'score': 8.64}, {'connected_gene': 'MAST2', 'score': 7.45}, {'connected_gene': 'BEST4', 'score': 4.65}, {'connected_gene': 'ENSG00000281112', 'score': 0.44}]
chr1 GH01I046369 46369581 46370601 1 [{'connected_gene': 'ENSG00000225779', 'score': 550.77}, {'connected_gene': 'NSUN4', 'score': 38.85}, {'connected_gene': 'GC01M046344', 'score': 0.34}]

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