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
ENST00000368143 [[130152388, 130152531], [130154604, 130154730], [130164674, 130164748], [130166911, 130166997], [130182300, 130182416]] [[130152463, 130152531], [130154604, 130154730], [130164674, 130164748], [130166911, 130166997], [130182300, 130182333]]
ENST00000438392 [[130152463, 130152531], [130154604, 130154730], [130164674, 130164748], [130166911, 130166997], [130182300, 130182389], [130182567, 130182692]] [[130152463, 130152531], [130154604, 130154730], [130164674, 130164748], [130166911, 130166997], [130182300, 130182333]]
NM_001010876 [[130152388, 130152531], [130154604, 130154730], [130164674, 130164748], [130166911, 130166997], [130182300, 130182416]] [[130152463, 130152531], [130154604, 130154730], [130164674, 130164748], [130166911, 130166997], [130182300, 130182333]]
Promoter
Chrom Start End Description
chr6 130182387 130182407 CAGE_peak_2_at_C6orf191_5end
chr6 130182410 130182418 CAGE_peak_4_at_C6orf191_5end
chr6 130182422 130182452 CAGE_peak_1_at_C6orf191_5end
chr6 130182453 130182473 CAGE_peak_3_at_C6orf191_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I129923 129923800 129924001 0.43 [{'connected_gene': 'L3MBTL3', 'score': 0.23}, {'connected_gene': 'TMEM244', 'score': 0.21}, {'connected_gene': 'LOC105377999', 'score': 0.2}]
chr6 GH06I129946 129946876 129947025 0.43 [{'connected_gene': 'L3MBTL3', 'score': 10.8}, {'connected_gene': 'TMEM244', 'score': 0.17}, {'connected_gene': 'LOC105377999', 'score': 0.16}]
chr6 GH06I129894 129894427 129896106 0.72 [{'connected_gene': 'L3MBTL3', 'score': 10.63}, {'connected_gene': 'TMEM244', 'score': 5.57}, {'connected_gene': 'LOC105377999', 'score': 0.28}]
chr6 GH06I129930 129930676 129930680 0.22 [{'connected_gene': 'L3MBTL3', 'score': 0.25}, {'connected_gene': 'TMEM244', 'score': 0.2}, {'connected_gene': 'LOC105377999', 'score': 0.18}]
chr6 GH06I129947 129947183 129947486 0.38 [{'connected_gene': 'L3MBTL3', 'score': 10.8}, {'connected_gene': 'TMEM244', 'score': 0.17}, {'connected_gene': 'LOC105377999', 'score': 0.16}]
chr6 GH06I129921 129921276 129921425 0.59 [{'connected_gene': 'TMEM244', 'score': 0.22}, {'connected_gene': 'L3MBTL3', 'score': 0.22}, {'connected_gene': 'LOC105377999', 'score': 0.2}]
chr6 GH06I129891 129891761 129892112 0.24 [{'connected_gene': 'TMEM244', 'score': 11.25}, {'connected_gene': 'L3MBTL3', 'score': 10.8}, {'connected_gene': 'RPL5P21', 'score': 9.53}, {'connected_gene': 'LOC105377999', 'score': 0.28}]
chr6 GH06I129889 129889059 129891127 0.82 [{'connected_gene': 'TMEM244', 'score': 11.26}, {'connected_gene': 'L3MBTL3', 'score': 10.8}, {'connected_gene': 'RPL5P21', 'score': 10.45}, {'connected_gene': 'LOC105377999', 'score': 0.29}, {'connected_gene': 'GC06P129854', 'score': 0.28}]
chr6 GH06I129875 129875801 129876400 0.64 [{'connected_gene': 'TMEM244', 'score': 6.29}, {'connected_gene': 'LOC105377999', 'score': 0.34}, {'connected_gene': 'GC06P129854', 'score': 0.34}, {'connected_gene': 'L3MBTL3', 'score': 0.15}]
chr6 GH06I129863 129863292 129864692 0.46 [{'connected_gene': 'TMEM244', 'score': 0.77}, {'connected_gene': 'LOC105377999', 'score': 0.44}, {'connected_gene': 'GC06P129854', 'score': 0.44}, {'connected_gene': 'L3MBTL3', 'score': 0.14}]
chr6 GH06I129859 129859886 129862105 1.16 [{'connected_gene': 'TMEM244', 'score': 550.77}, {'connected_gene': 'LOC105377999', 'score': 0.44}, {'connected_gene': 'GC06P129854', 'score': 0.44}]
chr6 GH06I129853 129853663 129855238 0.88 [{'connected_gene': 'LOC105377999', 'score': 550.77}, {'connected_gene': 'GC06P129854', 'score': 550.77}, {'connected_gene': 'TMEM244', 'score': 7.77}]
chr6 GH06I129919 129919497 129921233 0.8 [{'connected_gene': 'BMPR1APS1', 'score': 11.53}, {'connected_gene': 'TMEM244', 'score': 0.22}, {'connected_gene': 'L3MBTL3', 'score': 0.22}, {'connected_gene': 'LOC105377999', 'score': 0.21}]
chr6 GH06I129881 129881983 129883260 0.92 [{'connected_gene': 'RPL5P21', 'score': 10.02}, {'connected_gene': 'L3MBTL3', 'score': 9.91}, {'connected_gene': 'TMEM244', 'score': 0.34}, {'connected_gene': 'LOC105377999', 'score': 0.31}, {'connected_gene': 'GC06P129854', 'score': 0.31}]
chr6 GH06I129936 129936401 129936999 0.69 [{'connected_gene': 'RPL5P21', 'score': 10.72}, {'connected_gene': 'L3MBTL3', 'score': 0.26}, {'connected_gene': 'TMEM244', 'score': 0.18}, {'connected_gene': 'LOC105377999', 'score': 0.18}]
chr6 GH06I129830 129830402 129830663 0.22 [{'connected_gene': 'RPL5P21', 'score': 10.23}, {'connected_gene': 'TMEM244', 'score': 4.82}, {'connected_gene': 'ENSG00000219302', 'score': 0.39}, {'connected_gene': 'GC06P129854', 'score': 0.34}]
chr6 GH06I129844 129844576 129844745 0.54 [{'connected_gene': 'GC06P129854', 'score': 0.44}, {'connected_gene': 'TMEM244', 'score': 0.37}, {'connected_gene': 'ENSG00000219302', 'score': 0.34}]
chr6 GH06I129852 129852415 129852505 0.91 [{'connected_gene': 'GC06P129854', 'score': 550.77}, {'connected_gene': 'TMEM244', 'score': 0.44}, {'connected_gene': 'ENSG00000219302', 'score': 0.29}]