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
ENST00000319928 [[47073386, 47075356], [47075673, 47075876], [47078575, 47079043], [47082382, 47082563]] [[47075326, 47075356], [47075673, 47075876], [47078575, 47078993]]
ENST00000271139 [[47073390, 47075356], [47075673, 47075876], [47078575, 47079043], [47080642, 47080805]] [[47075326, 47075356], [47075673, 47075876], [47078575, 47079043], [47080642, 47080748]]
ENST00000371940 [[47073396, 47075356], [47075673, 47075876], [47078575, 47082137]] [[47075326, 47075356], [47075673, 47075876], [47078575, 47079062]]
ENST00000477318 [[47075673, 47075876], [47078575, 47079043], [47082382, 47082556]] None
NM_145279 [[47073386, 47075356], [47075673, 47075876], [47078575, 47079043], [47080642, 47080805]] [[47075326, 47075356], [47075673, 47075876], [47078575, 47079043], [47080642, 47080748]]
NM_201403 [[47073386, 47075356], [47075673, 47075876], [47078575, 47079043], [47082382, 47082563]] [[47075326, 47075356], [47075673, 47075876], [47078575, 47078993]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I046653 46653229 46653962 0.62 [{'connected_gene': 'EFCAB14', 'score': 21.03}, {'connected_gene': 'MOB3C', 'score': 11.34}, {'connected_gene': 'MKNK1', 'score': 11.34}, {'connected_gene': 'NENFP1', 'score': 0.39}, {'connected_gene': 'ATPAF1', 'score': 0.34}, {'connected_gene': 'LOC105378697', 'score': 0.31}]
chr1 GH01I046675 46675346 46677604 0.92 [{'connected_gene': 'EFCAB14', 'score': 36.01}, {'connected_gene': 'MOB3C', 'score': 10.06}, {'connected_gene': 'MKNK1', 'score': 10.06}, {'connected_gene': 'EFCAB14-AS1', 'score': 0.77}, {'connected_gene': 'LOC105378698', 'score': 0.39}]
chr1 GH01I046607 46607422 46607826 0.31 [{'connected_gene': 'EFCAB14', 'score': 5.91}, {'connected_gene': 'GC01P046604', 'score': 0.77}, {'connected_gene': 'MOB3C', 'score': 0.44}, {'connected_gene': 'MKNK1', 'score': 0.44}]
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 GH01I046622 46622072 46623178 0.82 [{'connected_gene': 'MKNK1', 'score': 13.5}, {'connected_gene': 'EFCAB14', 'score': 11.34}, {'connected_gene': 'TEX38', 'score': 10.91}, {'connected_gene': 'ATPAF1', 'score': 10.9}, {'connected_gene': 'EFCAB14-AS1', 'score': 10.9}, {'connected_gene': 'LOC105378697', 'score': 0.77}, {'connected_gene': 'MOB3C', 'score': 0.44}]
chr1 GH01I046594 46594013 46595999 0.89 [{'connected_gene': 'MKNK1', 'score': 38.06}, {'connected_gene': 'MOB3C', 'score': 11.54}, {'connected_gene': 'EFCAB14', 'score': 10.78}, {'connected_gene': 'TEX38', 'score': 10.46}, {'connected_gene': 'ATPAF1', 'score': 10.45}, {'connected_gene': 'EFCAB14-AS1', 'score': 10.45}, {'connected_gene': 'GC01P046604', 'score': 0.44}, {'connected_gene': 'KNCN', 'score': 0.26}]
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 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 GH01I046704 46704520 46705877 0.49 [{'connected_gene': 'ATPAF1', 'score': 11.1}, {'connected_gene': 'EFCAB14-AS1', 'score': 11.1}, {'connected_gene': 'TEX38', 'score': 11.09}, {'connected_gene': 'MOB3C', 'score': 10.77}, {'connected_gene': 'MKNK1', 'score': 10.77}, {'connected_gene': 'EFCAB14', 'score': 9.78}, {'connected_gene': 'PIR52630', 'score': 0.39}, {'connected_gene': 'LOC105378698', 'score': 0.37}]
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 GH01I046477 46477509 46477678 0.83 [{'connected_gene': 'GPBP1L1', 'score': 28.96}, {'connected_gene': 'LRRC41', 'score': 27.28}, {'connected_gene': 'RPL7AP16', 'score': 26.78}, {'connected_gene': 'EFCAB14-AS1', 'score': 23.98}, {'connected_gene': 'RPS15AP10', 'score': 11.99}, {'connected_gene': 'MOB3C', 'score': 10.74}, {'connected_gene': 'DMBX1', 'score': 0.39}, {'connected_gene': 'LINC01398', 'score': 0.31}, {'connected_gene': 'FAAHP1', 'score': 0.25}]
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 GH01I045749 45749708 45752800 2.29 [{'connected_gene': 'IPP', 'score': 559.48}, {'connected_gene': 'LOC105378693', 'score': 550.77}, {'connected_gene': 'LRRC41', 'score': 51.37}, {'connected_gene': 'TOE1', 'score': 50.42}, {'connected_gene': 'GPBP1L1', 'score': 48.07}, {'connected_gene': 'HECTD3', 'score': 36.7}, {'connected_gene': 'CCDC163', 'score': 35.18}, {'connected_gene': 'RPL7AP16', 'score': 25.88}, {'connected_gene': 'MUTYH', 'score': 24.75}, {'connected_gene': 'MAST2', 'score': 23.91}, {'connected_gene': 'EFCAB14-AS1', 'score': 22.85}, {'connected_gene': 'RPS15AP10', 'score': 21.53}, {'connected_gene': 'RPS8', 'score': 21.48}, {'connected_gene': 'MOB3C', 'score': 21.03}, {'connected_gene': 'NASP', 'score': 10.03}, {'connected_gene': 'FAAH', 'score': 6.23}, {'connected_gene': 'RPL6P1', 'score': 0.29}]
chr1 GH01I045801 45801943 45805585 2.28 [{'connected_gene': 'MAST2', 'score': 577.13}, {'connected_gene': 'GPBP1L1', 'score': 31.95}, {'connected_gene': 'CCDC163', 'score': 29.12}, {'connected_gene': 'EFCAB14-AS1', 'score': 25.23}, {'connected_gene': 'RPL7AP16', 'score': 24.92}, {'connected_gene': 'TOE1', 'score': 22.58}, {'connected_gene': 'LRRC41', 'score': 13.6}, {'connected_gene': 'MOB3C', 'score': 12.14}, {'connected_gene': 'IPP', 'score': 12.03}, {'connected_gene': 'CCDC17', 'score': 11.58}, {'connected_gene': 'HECTD3', 'score': 10.32}, {'connected_gene': 'TMA16P2', 'score': 0.26}]
chr1 GH01I045864 45864001 45864999 0.74 [{'connected_gene': 'MAST2', 'score': 37.11}, {'connected_gene': 'GPBP1L1', 'score': 30.05}, {'connected_gene': 'TOE1', 'score': 17.25}, {'connected_gene': 'RPL7AP16', 'score': 16.57}, {'connected_gene': 'LRRC41', 'score': 15.21}, {'connected_gene': 'EFCAB14-AS1', 'score': 13.79}, {'connected_gene': 'HECTD3', 'score': 12.91}, {'connected_gene': 'RPS15AP10', 'score': 11.8}, {'connected_gene': 'MUTYH', 'score': 10.94}, {'connected_gene': 'MOB3C', 'score': 10.31}, {'connected_gene': 'CCDC17', 'score': 10.24}, {'connected_gene': 'GC01M045859', 'score': 0.77}, {'connected_gene': 'LOC105378694', 'score': 0.26}]
chr1 GH01I046610 46610829 46617799 2.17 [{'connected_gene': 'MOB3C', 'score': 561.22}, {'connected_gene': 'MKNK1', 'score': 25.63}, {'connected_gene': 'GC01P046604', 'score': 0.44}]
chr1 GH01I046516 46516549 46518609 1.05 [{'connected_gene': 'KNCN', 'score': 11.97}, {'connected_gene': 'MOB3C', 'score': 5.03}, {'connected_gene': 'MKNK1', 'score': 5.0}, {'connected_gene': 'GC01P046525', 'score': 0.44}, {'connected_gene': 'DMBX1', 'score': 0.31}]
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 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 GH01I046446 46446969 46447118 0.77 [{'connected_gene': 'LRRC41', 'score': 15.16}, {'connected_gene': 'GPBP1L1', 'score': 14.89}, {'connected_gene': 'RPL7AP16', 'score': 14.63}, {'connected_gene': 'RPS15AP10', 'score': 11.99}, {'connected_gene': 'MOB3C', 'score': 10.72}, {'connected_gene': 'EFCAB14-AS1', 'score': 9.86}, {'connected_gene': 'LINC01398', 'score': 0.77}, {'connected_gene': 'FAAHP1', 'score': 0.39}]
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 GH01I047178 47178625 47183099 1.8 [{'connected_gene': 'LINC00853', 'score': 558.93}, {'connected_gene': 'CYP4A22-AS1', 'score': 550.77}, {'connected_gene': 'PDZK1IP1', 'score': 19.72}, {'connected_gene': 'EFCAB14-AS1', 'score': 18.89}, {'connected_gene': 'TAL1', 'score': 16.25}, {'connected_gene': 'LRRC41', 'score': 15.07}, {'connected_gene': 'ENSG00000226252', 'score': 10.94}, {'connected_gene': 'MOB3C', 'score': 10.65}, {'connected_gene': 'CYP4B1', 'score': 10.6}, {'connected_gene': 'ENSG00000225028', 'score': 9.74}, {'connected_gene': 'CYP4A22', 'score': 7.63}]
chr1 GH01I046519 46519827 46523387 1.47 [{'connected_gene': 'EFCAB14-AS1', 'score': 33.93}, {'connected_gene': 'GPBP1L1', 'score': 28.96}, {'connected_gene': 'LRRC41', 'score': 27.27}, {'connected_gene': 'RPL7AP16', 'score': 26.78}, {'connected_gene': 'DMBX1', 'score': 18.33}, {'connected_gene': 'RPS15AP10', 'score': 11.99}, {'connected_gene': 'KNCN', 'score': 11.95}, {'connected_gene': 'EFCAB14', 'score': 11.06}, {'connected_gene': 'MOB3C', 'score': 10.78}, {'connected_gene': 'TEX38', 'score': 10.04}, {'connected_gene': 'ATPAF1', 'score': 10.04}, {'connected_gene': 'MKNK1', 'score': 6.61}, {'connected_gene': 'CYP4Z1', 'score': 4.92}, {'connected_gene': 'FAAH', 'score': 4.58}, {'connected_gene': 'GC01P046525', 'score': 0.77}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.