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
ENST00000294445 [[47011315, 47013481], [47014864, 47014939], [47015605, 47015684]] None
ENST00000524908 [[47013020, 47013481], [47014864, 47014939], [47015378, 47015405]] None
ENST00000481882 [[47013051, 47013481], [47014864, 47014939], [47015605, 47015674], [47016736, 47017199]] [[47013401, 47013481], [47014864, 47014939], [47015605, 47015674], [47016736, 47016887]]
ENST00000396314 [[47013099, 47013481], [47014864, 47014939], [47016736, 47016887]] [[47013401, 47013481], [47014864, 47014939], [47016736, 47016887]]
NM_001322255 [[47011309, 47013481], [47014864, 47014939], [47015605, 47015674], [47016736, 47017329]] [[47013401, 47013481], [47014864, 47014939], [47015605, 47015674], [47016736, 47016887]]
NM_001097611 [[47011315, 47013481], [47014864, 47014939], [47016736, 47016887]] [[47013401, 47013481], [47014864, 47014939], [47016736, 47016887]]
Promoter
Chrom Start End Description
chr1 47015424 47015432 CAGE_peak_1_at_KNCN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I046603 46603039 46605700 2 [{'connected_gene': 'MKNK1', 'score': 574.72}, {'connected_gene': 'GC01P046604', 'score': 550.77}, {'connected_gene': 'EFCAB14', 'score': 11.23}, {'connected_gene': 'TEX38', 'score': 10.86}, {'connected_gene': 'ATPAF1', 'score': 10.85}, {'connected_gene': 'EFCAB14-AS1', 'score': 10.85}, {'connected_gene': 'KNCN', 'score': 0.23}]
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 GH01I046580 46580451 46581200 0.83 [{'connected_gene': 'MKNK1', 'score': 26.85}, {'connected_gene': 'GC01P046604', 'score': 0.34}, {'connected_gene': 'KNCN', 'score': 0.31}]
chr1 GH01I046583 46581650 46581958 0.63 [{'connected_gene': 'MKNK1', 'score': 27.55}, {'connected_gene': 'GC01P046604', 'score': 0.34}, {'connected_gene': 'KNCN', 'score': 0.29}]
chr1 GH01I046549 46549229 46550425 0.6 [{'connected_gene': 'KNCN', 'score': 550.77}, {'connected_gene': 'MKNK1', 'score': 8.06}, {'connected_gene': 'CMPK1', 'score': 4.45}, {'connected_gene': 'MKNK1-AS1', 'score': 0.39}]
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 GH01I046556 46556800 46557201 0.63 [{'connected_gene': 'KNCN', 'score': 0.44}, {'connected_gene': 'MKNK1-AS1', 'score': 0.37}, {'connected_gene': 'GC01P046604', 'score': 0.25}]
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}]
chr1 GH01I046581 46581401 46581601 0.46 [{'connected_gene': 'GC01P046604', 'score': 0.34}, {'connected_gene': 'KNCN', 'score': 0.31}, {'connected_gene': 'MKNK1', 'score': 0.28}]
chr1 GH01I046582 46581969 46582118 0.62 [{'connected_gene': 'GC01P046604', 'score': 0.34}, {'connected_gene': 'KNCN', 'score': 0.29}, {'connected_gene': 'MKNK1', 'score': 0.29}]
chr1 GH01I046527 46527049 46527258 0.74 [{'connected_gene': 'GC01P046525', 'score': 550.77}, {'connected_gene': 'DMBX1', 'score': 12.59}, {'connected_gene': 'KNCN', 'score': 11.99}, {'connected_gene': 'EFCAB14', 'score': 10.05}, {'connected_gene': 'MKNK1', 'score': 5.19}, {'connected_gene': 'LOC105378696', 'score': 0.44}]
chr1 GH01I046523 46523661 46524127 0.52 [{'connected_gene': 'GC01P046525', 'score': 550.77}, {'connected_gene': 'DMBX1', 'score': 12.61}, {'connected_gene': 'KNCN', 'score': 11.96}, {'connected_gene': 'EFCAB14', 'score': 10.05}, {'connected_gene': 'FAAH', 'score': 4.54}]