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
ENST00000474155 [[11865337, 11865469], [11893995, 11894214], [11904910, 11905041], [11908529, 11908775]] None
ENST00000277570 [[11865396, 11865469], [11893995, 11894214], [11908529, 11908782], [11911488, 11914276]] [[11894076, 11894214], [11908529, 11908782], [11911488, 11912405]]
ENST00000444604 [[11873681, 11873821], [11893995, 11894214], [11908529, 11908646]] [[11894076, 11894214], [11908529, 11908646]]
ENST00000379200 [[11911642, 11912874]] [[11911685, 11912405]]
NM_153256 [[11865396, 11865469], [11893995, 11894214], [11908529, 11908782], [11911488, 11914276]] [[11894076, 11894214], [11908529, 11908782], [11911488, 11912405]]
Promoter
Chrom Start End Description
chr10 11865317 11865332 CAGE_peak_2_at_C10orf47_5end
chr10 11865347 11865411 CAGE_peak_1_at_C10orf47_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I011797 11797478 11800004 0.88 [{'connected_gene': 'ECHDC3', 'score': 17.36}, {'connected_gene': 'UPF2', 'score': 9.84}, {'connected_gene': 'LOC105376415', 'score': 0.39}, {'connected_gene': 'PROSER2', 'score': 0.34}]
chr10 GH10I011809 11809822 11811406 0.75 [{'connected_gene': 'ECHDC3', 'score': 7.28}, {'connected_gene': 'PROSER2', 'score': 0.39}, {'connected_gene': 'LOC105376415', 'score': 0.31}]
chr10 GH10I011793 11793497 11795227 1.22 [{'connected_gene': 'ECHDC3', 'score': 12.64}, {'connected_gene': 'PROSER2', 'score': 6.13}, {'connected_gene': 'LOC105376415', 'score': 0.39}]
chr10 GH10I011879 11879754 11885297 1.54 [{'connected_gene': 'PROSER2', 'score': 16.19}, {'connected_gene': 'PROSER2-AS1', 'score': 14.16}, {'connected_gene': 'RNU6-1095P', 'score': 12.08}, {'connected_gene': 'PIR51291', 'score': 0.44}, {'connected_gene': 'GC10P011876', 'score': 0.44}, {'connected_gene': 'GC10M011887', 'score': 0.44}]
chr10 GH10I011862 11862921 11864409 0.8 [{'connected_gene': 'PROSER2', 'score': 23.21}, {'connected_gene': 'PROSER2-AS1', 'score': 17.75}, {'connected_gene': 'RNU6-1095P', 'score': 11.74}, {'connected_gene': 'GC10P011876', 'score': 0.39}]
chr10 GH10I011849 11849696 11850437 0.38 [{'connected_gene': 'PROSER2', 'score': 10.2}, {'connected_gene': 'GC10P011876', 'score': 0.31}, {'connected_gene': 'PROSER2-AS1', 'score': 0.26}]
chr10 GH10I011819 11819601 11820000 0.69 [{'connected_gene': 'PROSER2', 'score': 0.77}, {'connected_gene': 'LOC105376415', 'score': 0.28}]
chr10 GH10I011814 11814001 11814800 0.83 [{'connected_gene': 'PROSER2', 'score': 0.44}, {'connected_gene': 'LOC105376415', 'score': 0.29}]
chr10 GH10I011820 11820201 11820400 0.62 [{'connected_gene': 'PROSER2', 'score': 0.77}, {'connected_gene': 'LOC105376415', 'score': 0.28}]
chr10 GH10I011900 11900750 11902634 0.85 [{'connected_gene': 'PROSER2', 'score': 8.67}, {'connected_gene': 'PIR36850', 'score': 0.77}, {'connected_gene': 'GC10P011915', 'score': 0.39}]
chr10 GH10I011822 11822762 11824631 1.9 [{'connected_gene': 'PROSER2', 'score': 555.84}, {'connected_gene': 'GC10P011876', 'score': 0.23}]
chr10 GH10I011824 11824883 11825069 1.04 [{'connected_gene': 'PROSER2', 'score': 558.47}, {'connected_gene': 'GC10P011876', 'score': 0.23}]
chr10 GH10I011871 11871371 11871883 0.63 [{'connected_gene': 'PROSER2-AS1', 'score': 25.26}, {'connected_gene': 'PROSER2', 'score': 11.1}, {'connected_gene': 'GC10P011876', 'score': 0.77}]
chr10 GH10I011869 11869336 11870606 0.63 [{'connected_gene': 'PROSER2-AS1', 'score': 23.25}, {'connected_gene': 'PROSER2', 'score': 21.08}, {'connected_gene': 'GC10P011876', 'score': 0.44}]
chr10 GH10I011830 11830170 11833103 1.05 [{'connected_gene': 'PROSER2-AS1', 'score': 17.56}, {'connected_gene': 'RNU6-1095P', 'score': 11.21}, {'connected_gene': 'PROSER2', 'score': 8.48}, {'connected_gene': 'GC10P011876', 'score': 0.26}]
chr10 GH10I011878 11878501 11879306 0.38 [{'connected_gene': 'RNU6-1095P', 'score': 12.03}, {'connected_gene': 'PROSER2-AS1', 'score': 11.38}, {'connected_gene': 'PROSER2', 'score': 7.51}, {'connected_gene': 'GC10P011876', 'score': 0.77}, {'connected_gene': 'PIR51291', 'score': 0.44}, {'connected_gene': 'GC10M011887', 'score': 0.44}]
chr10 GH10I011890 11890920 11892765 0.78 [{'connected_gene': 'GC10P011892', 'score': 550.77}, {'connected_gene': 'ENSG00000228302', 'score': 22.15}, {'connected_gene': 'UPF2', 'score': 19.14}, {'connected_gene': 'PROSER2-AS1', 'score': 14.17}, {'connected_gene': 'PROSER2', 'score': 13.46}, {'connected_gene': 'SEC61A2', 'score': 10.05}, {'connected_gene': 'GC10M011888', 'score': 0.77}, {'connected_gene': 'PIR51152', 'score': 0.77}]
chr10 GH10I011897 11897663 11899664 1.68 [{'connected_gene': 'PIR36850', 'score': 550.77}, {'connected_gene': 'PROSER2', 'score': 26.8}, {'connected_gene': 'UPF2', 'score': 20.45}, {'connected_gene': 'RNU6-1095P', 'score': 12.48}, {'connected_gene': 'ENSG00000228302', 'score': 10.76}, {'connected_gene': 'PROSER2-AS1', 'score': 6.3}, {'connected_gene': 'GC10P011915', 'score': 0.37}]
chr10 GH10I011895 11895333 11895571 0.71 [{'connected_gene': 'PIR36850', 'score': 550.77}, {'connected_gene': 'PROSER2-AS1', 'score': 550.77}, {'connected_gene': 'PROSER2', 'score': 12.44}, {'connected_gene': 'UPF2', 'score': 1.53}, {'connected_gene': 'GC10P011892', 'score': 0.77}]
chr10 GH10I011873 11873741 11878042 1.69 [{'connected_gene': 'GC10P011876', 'score': 550.77}, {'connected_gene': 'PROSER2-AS1', 'score': 12.75}, {'connected_gene': 'RNU6-1095P', 'score': 12.02}, {'connected_gene': 'PROSER2', 'score': 11.72}]
chr10 GH10I011885 11885728 11887634 0.87 [{'connected_gene': 'GC10M011888', 'score': 550.77}, {'connected_gene': 'PIR51291', 'score': 550.77}, {'connected_gene': 'PIR51152', 'score': 550.77}, {'connected_gene': 'GC10M011887', 'score': 550.77}, {'connected_gene': 'RNU6-1095P', 'score': 12.1}, {'connected_gene': 'PROSER2-AS1', 'score': 11.97}, {'connected_gene': 'PROSER2', 'score': 5.18}, {'connected_gene': 'GC10P011876', 'score': 0.39}]