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
ENST00000529803 [[76813885, 76814377]] [[76813885, 76814377]]
NM_006189 [[76813885, 76814377]] [[76813885, 76814377]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I077071 77071293 77076880 1.13 [{'connected_gene': 'CAPN5', 'score': 10.5}, {'connected_gene': 'ACER3', 'score': 5.04}, {'connected_gene': 'OMP', 'score': 0.31}]
chr11 GH11I077069 77069383 77070522 0.2 [{'connected_gene': 'CAPN5', 'score': 7.65}, {'connected_gene': 'ACER3', 'score': 5.04}, {'connected_gene': 'OMP', 'score': 0.29}]
chr11 GH11I077081 77081960 77083974 0.78 [{'connected_gene': 'CAPN5', 'score': 9.58}, {'connected_gene': 'OMP', 'score': 0.37}]
chr11 GH11I077086 77085189 77085301 0.4 [{'connected_gene': 'OMP', 'score': 0.37}, {'connected_gene': 'CAPN5', 'score': 0.37}]
chr11 GH11I077089 77089905 77091213 0.78 [{'connected_gene': 'OMP', 'score': 0.39}, {'connected_gene': 'CAPN5', 'score': 0.34}]
chr11 GH11I077094 77094675 77097463 1.06 [{'connected_gene': 'OMP', 'score': 0.44}, {'connected_gene': 'CAPN5', 'score': 0.31}]
chr11 GH11I077093 77093558 77093933 0.2 [{'connected_gene': 'OMP', 'score': 0.44}, {'connected_gene': 'CAPN5', 'score': 0.31}]
chr11 GH11I077091 77091235 77091444 1 [{'connected_gene': 'OMP', 'score': 0.39}, {'connected_gene': 'CAPN5', 'score': 0.34}]
chr11 GH11I077111 77111050 77111342 0.31 [{'connected_gene': 'OMP', 'score': 0.44}, {'connected_gene': 'MYO7A', 'score': 0.37}, {'connected_gene': 'CAPN5', 'score': 0.26}]
chr11 GH11I077112 77112743 77113565 0.56 [{'connected_gene': 'OMP', 'score': 0.39}, {'connected_gene': 'MYO7A', 'score': 0.37}, {'connected_gene': 'CAPN5', 'score': 0.25}]
chr11 GH11I077107 77107463 77108724 1.02 [{'connected_gene': 'OMP', 'score': 0.44}, {'connected_gene': 'MYO7A', 'score': 0.34}, {'connected_gene': 'CAPN5', 'score': 0.26}]
chr11 GH11I077109 77109525 77110098 0.4 [{'connected_gene': 'OMP', 'score': 0.44}, {'connected_gene': 'MYO7A', 'score': 0.37}, {'connected_gene': 'CAPN5', 'score': 0.26}]
chr11 GH11I077102 77102881 77102940 0.5 [{'connected_gene': 'OMP', 'score': 550.77}, {'connected_gene': 'MYO7A', 'score': 0.31}, {'connected_gene': 'CAPN5', 'score': 0.28}]
chr11 GH11I077038 77038229 77039259 0.67 [{'connected_gene': 'OMP', 'score': 11.78}, {'connected_gene': 'MYO7A', 'score': 10.87}, {'connected_gene': 'ACER3', 'score': 9.94}, {'connected_gene': 'B3GNT6', 'score': 0.77}, {'connected_gene': 'LOC105369399', 'score': 0.44}]
chr11 GH11I077039 77039354 77040707 0.74 [{'connected_gene': 'OMP', 'score': 11.78}, {'connected_gene': 'MYO7A', 'score': 10.87}, {'connected_gene': 'ACER3', 'score': 9.94}, {'connected_gene': 'LOC105369399', 'score': 0.44}, {'connected_gene': 'B3GNT6', 'score': 0.44}]
chr11 GH11I077139 77139699 77142100 1.09 [{'connected_gene': 'OMP', 'score': 11.74}, {'connected_gene': 'GDPD4', 'score': 10.05}, {'connected_gene': 'ENSG00000254632', 'score': 8.89}, {'connected_gene': 'MYO7A', 'score': 0.39}, {'connected_gene': 'PIR53181', 'score': 0.18}]
chr11 GH11I077055 77055394 77055543 0.43 [{'connected_gene': 'OMP', 'score': 12.93}, {'connected_gene': 'LOC105369399', 'score': 0.44}, {'connected_gene': 'LOC105369400', 'score': 0.44}]
chr11 GH11I077126 77126955 77127104 0.68 [{'connected_gene': 'MYO7A', 'score': 550.77}, {'connected_gene': 'OMP', 'score': 0.34}]
chr11 GH11I077085 77085606 77089796 1.19 [{'connected_gene': 'AAMDC', 'score': 4.97}, {'connected_gene': 'NDUFC2', 'score': 4.26}, {'connected_gene': 'OMP', 'score': 0.37}, {'connected_gene': 'CAPN5', 'score': 0.34}]
chr11 GH11I077034 77034169 77037366 1.58 [{'connected_gene': 'B3GNT6', 'score': 550.77}, {'connected_gene': 'OMP', 'score': 11.97}, {'connected_gene': 'MYO7A', 'score': 10.86}, {'connected_gene': 'ACER3', 'score': 10.79}, {'connected_gene': 'CAPN5', 'score': 7.34}, {'connected_gene': 'LOC105369399', 'score': 0.39}]
chr11 GH11I077045 77045794 77048383 1.33 [{'connected_gene': 'LOC105369399', 'score': 550.77}, {'connected_gene': 'OMP', 'score': 12.56}, {'connected_gene': 'CAPN5', 'score': 6.08}, {'connected_gene': 'B3GNT6', 'score': 0.39}]
chr11 GH11I077048 77048756 77049712 0.4 [{'connected_gene': 'LOC105369399', 'score': 550.77}, {'connected_gene': 'OMP', 'score': 12.92}, {'connected_gene': 'LOC105369400', 'score': 0.39}]
chr11 GH11I076863 76863184 76863493 0.76 [{'connected_gene': 'ENSG00000254988', 'score': 7.08}, {'connected_gene': 'ACER3', 'score': 5.57}, {'connected_gene': 'OMP', 'score': 1.23}]
chr11 GH11I076763 76763249 76764654 1.12 [{'connected_gene': 'ENSG00000254632', 'score': 9.62}, {'connected_gene': 'OMP', 'score': 1.6}, {'connected_gene': 'GC11P076754', 'score': 0.44}]