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
ENST00000371980 [[46669005, 46669296], [46685370, 46686933]] [[46669098, 46669296], [46685370, 46685892]]
NM_001013615 [[46669005, 46669296], [46685370, 46686928]] [[46669098, 46669296], [46685370, 46685892]]
Promoter
Chrom Start End Description
chr1 46668862 46668867 CAGE_peak_3_at_C1orf190_5end
chr1 46668994 46669052 CAGE_peak_1_at_C1orf190_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I046176 46176478 46176537 0.61 [{'connected_gene': 'PIK3R3', 'score': 550.77}, {'connected_gene': 'LOC110117498-PIK3R3', 'score': 550.77}, {'connected_gene': 'LOC105378695', 'score': 550.77}, {'connected_gene': 'TSPAN1', 'score': 550.77}, {'connected_gene': 'LOC110117498', 'score': 550.77}, {'connected_gene': 'LURAP1', 'score': 0.31}]
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 GH01I046109 46109431 46109503 0.49 [{'connected_gene': 'PIK3R3', 'score': 16.86}, {'connected_gene': 'LOC101929626', 'score': 11.66}, {'connected_gene': 'TSPAN1', 'score': 11.26}, {'connected_gene': 'LOC110117498', 'score': 11.26}, {'connected_gene': 'ENSG00000226957', 'score': 10.97}, {'connected_gene': 'LURAP1', 'score': 10.88}, {'connected_gene': 'MAST2', 'score': 9.91}, {'connected_gene': 'ENSG00000233114', 'score': 0.77}, {'connected_gene': 'LOC110117498-PIK3R3', 'score': 0.2}]
chr1 GH01I046108 46108308 46108708 0.4 [{'connected_gene': 'PIK3R3', 'score': 15.27}, {'connected_gene': 'TSPAN1', 'score': 12.58}, {'connected_gene': 'LOC101929626', 'score': 11.66}, {'connected_gene': 'LOC110117498', 'score': 11.26}, {'connected_gene': 'ENSG00000226957', 'score': 10.97}, {'connected_gene': 'LURAP1', 'score': 10.88}, {'connected_gene': 'MAST2', 'score': 8.31}, {'connected_gene': 'ENSG00000233114', 'score': 0.77}, {'connected_gene': 'LOC110117498-PIK3R3', 'score': 0.2}]
chr1 GH01I046210 46210432 46211604 0.43 [{'connected_gene': 'RAD54L', 'score': 12.01}, {'connected_gene': 'FAAHP1', 'score': 6.7}, {'connected_gene': 'POMGNT1', 'score': 4.55}, {'connected_gene': 'LURAP1', '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 GH01I046187 46187063 46189806 0.77 [{'connected_gene': 'POMGNT1', 'score': 10.81}, {'connected_gene': 'ENSG00000226957', 'score': 10.64}, {'connected_gene': 'LURAP1', 'score': 0.39}, {'connected_gene': 'PIK3R3', 'score': 0.39}, {'connected_gene': 'TSPAN1', 'score': 0.39}]
chr1 GH01I046218 46218312 46219048 0.52 [{'connected_gene': 'POMGNT1', 'score': 550.77}, {'connected_gene': 'LURAP1', 'score': 28.53}, {'connected_gene': 'ZSWIM5', 'score': 14.36}, {'connected_gene': 'PIK3R3', 'score': 11.09}, {'connected_gene': 'TSPAN1', 'score': 11.09}, {'connected_gene': 'LOC110117498', 'score': 11.09}, {'connected_gene': 'MUTYH', 'score': 9.91}, {'connected_gene': 'ENSG00000226957', 'score': 9.69}]
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 GH01I046330 46330952 46334001 1.26 [{'connected_gene': 'LURAP1', 'score': 13.61}, {'connected_gene': 'UQCRH', 'score': 13.12}, {'connected_gene': 'LRRC41', 'score': 11.85}, {'connected_gene': 'GC01M046335', 'score': 0.77}, {'connected_gene': 'GC01P046304', 'score': 0.31}, {'connected_gene': 'GC01P046305', 'score': 0.31}]
chr1 GH01I046421 46421550 46422538 0.86 [{'connected_gene': 'LURAP1', 'score': 12.26}, {'connected_gene': 'FAAHP1', 'score': 0.39}, {'connected_gene': 'FAAH', 'score': 0.31}]
chr1 GH01I046194 46194303 46195112 0.43 [{'connected_gene': 'LURAP1', 'score': 29.31}, {'connected_gene': 'POMGNT1', 'score': 11.87}, {'connected_gene': 'PIK3R3', 'score': 0.37}, {'connected_gene': 'TSPAN1', 'score': 0.37}]
chr1 GH01I046190 46190236 46191654 0.31 [{'connected_gene': 'LURAP1', 'score': 12.45}, {'connected_gene': 'POMGNT1', 'score': 10.83}, {'connected_gene': 'RAD54L', 'score': 10.74}, {'connected_gene': 'ENSG00000226957', 'score': 10.64}, {'connected_gene': 'PIK3R3', 'score': 0.39}, {'connected_gene': 'TSPAN1', 'score': 0.37}]
chr1 GH01I046186 46186237 46186496 0.2 [{'connected_gene': 'LURAP1', 'score': 31.47}, {'connected_gene': 'ENSG00000226957', 'score': 10.85}, {'connected_gene': 'POMGNT1', 'score': 10.85}, {'connected_gene': 'RAD54L', 'score': 10.73}, {'connected_gene': 'PIK3R3', 'score': 0.44}, {'connected_gene': 'TSPAN1', 'score': 0.39}]
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 GH01I046288 46288179 46289369 1.08 [{'connected_gene': 'LURAP1', 'score': 14.35}, {'connected_gene': 'GC01M046227', 'score': 0.44}, {'connected_gene': 'LRRC41', 'score': 0.39}, {'connected_gene': 'RAD54L', 'score': 0.26}]
chr1 GH01I046325 46325258 46326358 0.67 [{'connected_gene': 'LURAP1', 'score': 22.76}, {'connected_gene': 'LRRC41', 'score': 12.8}, {'connected_gene': 'UQCRH', 'score': 12.8}, {'connected_gene': 'GC01M046335', 'score': 0.39}, {'connected_gene': 'GC01P046304', 'score': 0.34}, {'connected_gene': 'GC01P046305', 'score': 0.34}]
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 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 GH01I045953 45953237 45955318 0.99 [{'connected_gene': 'MAST2', 'score': 26.92}, {'connected_gene': 'LURAP1', 'score': 10.01}, {'connected_gene': 'CCDC163', 'score': 5.59}, {'connected_gene': 'GC01P045917', 'score': 0.28}, {'connected_gene': 'GC01M046029', 'score': 0.18}]
chr1 GH01I045885 45885957 45886284 0.23 [{'connected_gene': 'MAST2', 'score': 27.12}, {'connected_gene': 'LURAP1', 'score': 2.35}, {'connected_gene': 'LOC105378694', 'score': 0.34}, {'connected_gene': 'GC01M045859', 'score': 0.31}]
chr1 GH01I046062 46062035 46064032 0.94 [{'connected_gene': 'MAST2', 'score': 35.74}, {'connected_gene': 'CCDC163', 'score': 26.48}, {'connected_gene': 'PIK3R3', 'score': 11.53}, {'connected_gene': 'TSPAN1', 'score': 11.53}, {'connected_gene': 'LOC110117498', 'score': 11.53}, {'connected_gene': 'LOC101929626', 'score': 10.81}, {'connected_gene': 'LURAP1', 'score': 10.73}, {'connected_gene': 'ENSG00000226957', 'score': 0.37}, {'connected_gene': 'ENSG00000233114', 'score': 0.26}, {'connected_gene': 'LOC110117498-PIK3R3', 'score': 0.14}]
chr1 GH01I045891 45891431 45893337 0.95 [{'connected_gene': 'MAST2', 'score': 27.15}, {'connected_gene': 'CCDC163', 'score': 26.94}, {'connected_gene': 'LURAP1', 'score': 4.09}, {'connected_gene': 'LOC105378694', 'score': 0.39}, {'connected_gene': 'GC01M045859', 'score': 0.29}]
chr1 GH01I046137 46137537 46138727 0.69 [{'connected_gene': 'MAST2', 'score': 23.67}, {'connected_gene': 'CCDC163', 'score': 16.52}, {'connected_gene': 'LURAP1', 'score': 9.8}, {'connected_gene': 'LOC101929626', 'score': 0.77}, {'connected_gene': 'PIK3R3', 'score': 0.28}, {'connected_gene': 'LOC110117498-PIK3R3', 'score': 0.28}, {'connected_gene': 'TSPAN1', 'score': 0.28}]
chr1 GH01I045302 45302843 45305532 1.61 [{'connected_gene': 'LOC105378691', 'score': 550.77}, {'connected_gene': 'LINC01144', 'score': 550.77}, {'connected_gene': 'MUTYH', 'score': 17.44}, {'connected_gene': 'ZSWIM5', 'score': 15.11}, {'connected_gene': 'CCDC163', 'score': 11.35}, {'connected_gene': 'LURAP1', 'score': 10.75}, {'connected_gene': 'C1orf228', 'score': 4.21}]
chr1 GH01I046299 46299973 46305583 2.31 [{'connected_gene': 'LRRC41', 'score': 595.66}, {'connected_gene': 'UQCRH', 'score': 550.77}, {'connected_gene': 'GC01P046304', 'score': 550.77}, {'connected_gene': 'GC01P046305', 'score': 550.77}, {'connected_gene': 'GPBP1L1', 'score': 23.78}, {'connected_gene': 'LURAP1', 'score': 22.63}, {'connected_gene': 'TOE1', 'score': 22.15}, {'connected_gene': 'RPL7AP16', 'score': 14.98}, {'connected_gene': 'EFCAB14-AS1', 'score': 13.14}, {'connected_gene': 'NASP', 'score': 12.89}, {'connected_gene': 'RPS15AP10', 'score': 11.95}, {'connected_gene': 'MOB3C', 'score': 11.71}, {'connected_gene': 'IPP', 'score': 11.61}, {'connected_gene': 'EFCAB14', 'score': 11.12}, {'connected_gene': 'ZSWIM5', 'score': 10.33}, {'connected_gene': 'TMEM69', 'score': 10.06}, {'connected_gene': 'FAAH', 'score': 5.9}, {'connected_gene': 'CCDC163', 'score': 4.8}, {'connected_gene': 'GC01M046227', 'score': 0.44}]
chr1 GH01I046064 46064902 46065973 0.94 [{'connected_gene': 'TSPAN1', 'score': 11.54}, {'connected_gene': 'PIK3R3', 'score': 11.53}, {'connected_gene': 'LOC110117498', 'score': 11.53}, {'connected_gene': 'LURAP1', 'score': 10.1}, {'connected_gene': 'MAST2', 'score': 9.9}, {'connected_gene': 'ENSG00000226957', 'score': 0.37}, {'connected_gene': 'ENSG00000233114', 'score': 0.28}, {'connected_gene': 'LOC110117498-PIK3R3', 'score': 0.14}]
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 GH01I046043 46043208 46044278 0.87 [{'connected_gene': 'PIR32898', 'score': 550.77}, {'connected_gene': 'PIR44986', 'score': 550.77}, {'connected_gene': 'PIK3R3', 'score': 11.66}, {'connected_gene': 'TSPAN1', 'score': 11.66}, {'connected_gene': 'LOC110117498', 'score': 11.66}, {'connected_gene': 'LURAP1', 'score': 10.56}, {'connected_gene': 'POMGNT1', 'score': 10.36}, {'connected_gene': 'ENSG00000226957', 'score': 0.77}, {'connected_gene': 'LOC110117498-PIK3R3', 'score': 0.12}]
chr1 GH01I046223 46223402 46224024 1.19 [{'connected_gene': 'PIR61768', 'score': 550.77}, {'connected_gene': 'GC01P046223', 'score': 550.77}, {'connected_gene': 'FAAH', 'score': 2.37}, {'connected_gene': 'LURAP1', 'score': 2.33}, {'connected_gene': 'GC01M046246', 'score': 0.34}]
chr1 GH01I046220 46220314 46220373 0.76 [{'connected_gene': 'PIR61768', 'score': 550.77}, {'connected_gene': 'POMGNT1', 'score': 550.77}, {'connected_gene': 'GC01P046223', 'score': 550.77}, {'connected_gene': 'LURAP1', 'score': 0.37}]
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}]

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