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
ENST00000371956 [[46972667, 46972836], [46976132, 46976326], [46976606, 46976955], [46977714, 46979884]] [[46972682, 46972836], [46976132, 46976326], [46976606, 46976955], [46977714, 46978166]]
ENST00000360032 [[46972668, 46972836], [46976147, 46976326], [46976606, 46976955], [46977714, 46979898]] [[46972682, 46972836], [46976147, 46976326], [46976606, 46976955], [46977714, 46978166]]
NM_147192 [[46972667, 46972835], [46976131, 46976326], [46976606, 46976955], [46977714, 46979898]] [[46972682, 46972835], [46976131, 46976326], [46976606, 46976955], [46977714, 46978166]]
NM_172225 [[46972667, 46972836], [46976147, 46976326], [46976606, 46976955], [46977714, 46979898]] [[46972682, 46972836], [46976147, 46976326], [46976606, 46976955], [46977714, 46978166]]
Promoter
Chrom Start End Description
chr1 46972279 46972288 CAGE_peak_1_at_DMBX1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 GH01I046490 46490065 46490246 0.77 [{'connected_gene': 'DMBX1', 'score': 564.16}, {'connected_gene': 'GC01P046525', 'score': 0.28}]
chr1 GH01I046506 46506934 46506993 0.97 [{'connected_gene': 'DMBX1', 'score': 550.37}, {'connected_gene': 'GC01P046525', 'score': 0.37}]
chr1 GH01I046466 46466053 46467736 0.94 [{'connected_gene': 'LINC01398', 'score': 0.37}, {'connected_gene': 'DMBX1', 'score': 0.34}, {'connected_gene': 'FAAHP1', 'score': 0.29}]
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 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}]