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
ENST00000536405 [[61513964, 61514613], [61514822, 61514935], [61516014, 61517214], [61523106, 61523168], [61524554, 61524835], [61524960, 61525121]] None
ENST00000541891 [[61514396, 61514595], [61514822, 61514935], [61516014, 61516165]] None
ENST00000244906 [[61521500, 61521917], [61523106, 61523168], [61524554, 61524835], [61524960, 61525127]] None
NR_026882 [[61521500, 61521917], [61523106, 61523168], [61524554, 61524835], [61524960, 61525136]] None

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I061850 61850653 61852418 0.49 [{'connected_gene': 'FADS2', 'score': 66.87}, {'connected_gene': 'FADS1', 'score': 12.33}, {'connected_gene': 'FADS3', 'score': 12.25}, {'connected_gene': 'RAB3IL1', 'score': 11.42}, {'connected_gene': 'DKFZP434K028', 'score': 10.78}, {'connected_gene': 'MYRF', 'score': 10.77}, {'connected_gene': 'INCENP', 'score': 10.76}, {'connected_gene': 'BEST1', 'score': 10.74}, {'connected_gene': 'POLR2G', 'score': 4.81}, {'connected_gene': 'MIR6746', 'score': 0.31}]
chr11 GH11I061796 61796829 61798814 1.21 [{'connected_gene': 'FADS2', 'score': 25.57}, {'connected_gene': 'FADS1', 'score': 11.86}, {'connected_gene': 'DKFZP434K028', 'score': 11.67}, {'connected_gene': 'BEST1', 'score': 10.6}, {'connected_gene': 'FEN1', 'score': 0.44}, {'connected_gene': 'MIR1908', 'score': 0.37}, {'connected_gene': 'GC11P061758', 'score': 0.28}]
chr11 GH11I061679 61679943 61681016 2.12 [{'connected_gene': 'DAGLA', 'score': 550.77}, {'connected_gene': 'MTA2', 'score': 16.23}, {'connected_gene': 'TMEM138', 'score': 14.57}, {'connected_gene': 'EML3', 'score': 14.16}, {'connected_gene': 'CPSF7', 'score': 13.44}, {'connected_gene': 'GANAB', 'score': 12.01}, {'connected_gene': 'INTS5', 'score': 11.72}, {'connected_gene': 'CSKMT', 'score': 11.0}, {'connected_gene': 'UBXN1', 'score': 10.29}, {'connected_gene': 'DKFZP434K028', 'score': 7.22}, {'connected_gene': 'PIR41833', 'score': 0.21}]
chr11 GH11I061625 61625573 61629241 1.01 [{'connected_gene': 'DAGLA', 'score': 17.28}, {'connected_gene': 'SYT7', 'score': 11.53}, {'connected_gene': 'MYRF', 'score': 10.78}, {'connected_gene': 'DKFZP434K028', 'score': 10.77}, {'connected_gene': 'GC11P061636', 'score': 0.44}, {'connected_gene': 'RPLP0P2', 'score': 0.39}]
chr11 GH11I061693 61693679 61702169 2.14 [{'connected_gene': 'DAGLA', 'score': 567.51}, {'connected_gene': 'MYRF', 'score': 20.92}, {'connected_gene': 'DKFZP434K028', 'score': 19.36}, {'connected_gene': 'SYT7', 'score': 11.01}, {'connected_gene': 'FTH1', 'score': 9.15}, {'connected_gene': 'CYB561A3', 'score': 7.63}, {'connected_gene': 'VWCE', 'score': 4.66}, {'connected_gene': 'SDHAF2', 'score': 4.48}, {'connected_gene': 'DDB1', 'score': 4.33}, {'connected_gene': 'CPSF7', 'score': 4.26}, {'connected_gene': 'PIR41833', 'score': 0.25}]
chr11 GH11I061731 61731896 61734041 1.1 [{'connected_gene': 'DAGLA', 'score': 16.92}, {'connected_gene': 'MYRF', 'score': 13.12}, {'connected_gene': 'DKFZP434K028', 'score': 12.6}, {'connected_gene': 'TMEM258', 'score': 11.65}, {'connected_gene': 'FEN1', 'score': 11.65}, {'connected_gene': 'MIR611', 'score': 11.65}, {'connected_gene': 'SYT7', 'score': 10.46}, {'connected_gene': 'PIR41833', 'score': 0.39}]
chr11 GH11I061598 61598865 61604114 1.12 [{'connected_gene': 'DAGLA', 'score': 11.1}, {'connected_gene': 'MYRF', 'score': 10.62}, {'connected_gene': 'DKFZP434K028', 'score': 10.62}, {'connected_gene': 'SDHAF2', 'score': 4.89}, {'connected_gene': 'RPLP0P2', 'score': 0.39}, {'connected_gene': 'LOC101927495', 'score': 0.39}]
chr11 GH11I061702 61702601 61703400 0.58 [{'connected_gene': 'DAGLA', 'score': 12.33}, {'connected_gene': 'MYRF', 'score': 11.14}, {'connected_gene': 'DKFZP434K028', 'score': 11.13}, {'connected_gene': 'DDB1', 'score': 4.32}, {'connected_gene': 'LBHD1', 'score': 4.3}, {'connected_gene': 'PIR41833', 'score': 0.26}]
chr11 GH11I061706 61706198 61708028 0.43 [{'connected_gene': 'DAGLA', 'score': 18.45}, {'connected_gene': 'MYRF', 'score': 11.59}, {'connected_gene': 'DKFZP434K028', 'score': 11.58}, {'connected_gene': 'PIR41833', 'score': 0.28}]
chr11 GH11I061710 61710946 61711859 0.38 [{'connected_gene': 'DAGLA', 'score': 7.49}, {'connected_gene': 'DKFZP434K028', 'score': 4.85}, {'connected_gene': 'PIR41833', 'score': 0.29}]
chr11 GH11I061665 61665860 61668812 0.84 [{'connected_gene': 'DAGLA', 'score': 5.89}, {'connected_gene': 'DKFZP434K028', 'score': 5.28}, {'connected_gene': 'GC11M061648', 'score': 0.44}]
chr11 GH11I061670 61670949 61671981 0.95 [{'connected_gene': 'MYRF', 'score': 21.31}, {'connected_gene': 'DKFZP434K028', 'score': 14.96}, {'connected_gene': 'SYT7', 'score': 10.73}, {'connected_gene': 'DAGLA', 'score': 0.44}, {'connected_gene': 'GC11M061648', 'score': 0.39}]
chr11 GH11I061729 61728594 61729350 0.46 [{'connected_gene': 'MYRF', 'score': 25.09}, {'connected_gene': 'DKFZP434K028', 'score': 12.23}, {'connected_gene': 'DAGLA', 'score': 11.27}, {'connected_gene': 'PIR41833', 'score': 0.39}]
chr11 GH11I061726 61726009 61726158 0.43 [{'connected_gene': 'MYRF', 'score': 12.23}, {'connected_gene': 'DKFZP434K028', 'score': 12.21}, {'connected_gene': 'DAGLA', 'score': 11.27}, {'connected_gene': 'PIR41833', 'score': 0.37}]
chr11 GH11I061745 61745709 61746636 0.66 [{'connected_gene': 'MYRF', 'score': 23.57}, {'connected_gene': 'PIR41833', 'score': 0.77}, {'connected_gene': 'DKFZP434K028', 'score': 0.39}, {'connected_gene': 'DAGLA', 'score': 0.2}]
chr11 GH11I061681 61681220 61684134 1.14 [{'connected_gene': 'MYRF', 'score': 21.99}, {'connected_gene': 'DKFZP434K028', 'score': 15.17}, {'connected_gene': 'DAGLA', 'score': 0.77}, {'connected_gene': 'PIR41833', 'score': 0.21}]
chr11 GH11I061728 61728067 61728578 0.38 [{'connected_gene': 'MYRF', 'score': 12.25}, {'connected_gene': 'DKFZP434K028', 'score': 12.23}, {'connected_gene': 'DAGLA', 'score': 11.27}, {'connected_gene': 'PIR41833', 'score': 0.37}]
chr11 GH11I061594 61594946 61596677 0.87 [{'connected_gene': 'MYRF', 'score': 10.48}, {'connected_gene': 'DKFZP434K028', 'score': 10.47}, {'connected_gene': 'SCGB1A1', 'score': 5.01}, {'connected_gene': 'LOC101927495', 'score': 0.44}, {'connected_gene': 'RPLP0P2', 'score': 0.37}]
chr11 GH11I061752 61752266 61759945 2.72 [{'connected_gene': 'MYRF', 'score': 569.06}, {'connected_gene': 'DKFZP434K028', 'score': 559.64}, {'connected_gene': 'TKFC', 'score': 1.5}, {'connected_gene': 'INCENP', 'score': 1.36}, {'connected_gene': 'GC11P061758', 'score': 0.77}]
chr11 GH11I061686 61686122 61687144 0.2 [{'connected_gene': 'MYRF', 'score': 12.26}, {'connected_gene': 'DKFZP434K028', 'score': 4.82}, {'connected_gene': 'VWCE', 'score': 4.72}, {'connected_gene': 'DAGLA', 'score': 0.44}, {'connected_gene': 'PIR41833', 'score': 0.22}]
chr11 GH11I061747 61747104 61748418 1.32 [{'connected_gene': 'MYRF', 'score': 24.07}, {'connected_gene': 'PIR41833', 'score': 0.77}, {'connected_gene': 'DKFZP434K028', 'score': 0.44}]
chr11 GH11I061749 61749435 61750338 1.08 [{'connected_gene': 'MYRF', 'score': 0.77}, {'connected_gene': 'PIR41833', 'score': 0.44}, {'connected_gene': 'DKFZP434K028', 'score': 0.44}]
chr11 GH11I061748 61748459 61749102 0.46 [{'connected_gene': 'MYRF', 'score': 5.5}, {'connected_gene': 'PIR41833', 'score': 0.77}, {'connected_gene': 'DKFZP434K028', 'score': 0.44}]
chr11 GH11I061751 61751941 61752214 0.6 [{'connected_gene': 'MYRF', 'score': 561.96}, {'connected_gene': 'PIR41833', 'score': 0.44}, {'connected_gene': 'DKFZP434K028', 'score': 0.44}]
chr11 GH11I061921 61921878 61925920 1.51 [{'connected_gene': 'RAB3IL1', 'score': 28.84}, {'connected_gene': 'FADS3', 'score': 11.96}, {'connected_gene': 'BEST1', 'score': 11.88}, {'connected_gene': 'FADS1', 'score': 10.66}, {'connected_gene': 'FTH1', 'score': 10.28}, {'connected_gene': 'DKFZP434K028', 'score': 9.35}, {'connected_gene': 'MYRF', 'score': 9.34}, {'connected_gene': 'GC11P061939', 'score': 0.39}, {'connected_gene': 'PIR40157', 'score': 0.37}]
chr11 GH11I061435 61435392 61436258 0.65 [{'connected_gene': 'TMEM216', 'score': 24.41}, {'connected_gene': 'MYRF', 'score': 10.15}, {'connected_gene': 'DKFZP434K028', 'score': 10.14}, {'connected_gene': 'SDHAF2', 'score': 6.84}, {'connected_gene': 'GC11P061443', 'score': 0.44}, {'connected_gene': 'ENSG00000256591', 'score': 0.44}]
chr11 GH11I061417 61417032 61419417 1 [{'connected_gene': 'TMEM216', 'score': 23.77}, {'connected_gene': 'DDB1', 'score': 11.24}, {'connected_gene': 'TKFC', 'score': 11.22}, {'connected_gene': 'MYRF', 'score': 9.36}, {'connected_gene': 'DKFZP434K028', 'score': 9.36}, {'connected_gene': 'SDHAF2', 'score': 7.47}, {'connected_gene': 'PIR40905', 'score': 0.77}, {'connected_gene': 'PIR50742', 'score': 0.39}, {'connected_gene': 'CPSF7', 'score': 0.39}]
chr11 GH11I062108 62108001 62110019 0.97 [{'connected_gene': 'INCENP', 'score': 13.93}, {'connected_gene': 'RAB3IL1', 'score': 11.55}, {'connected_gene': 'FADS3', 'score': 11.53}, {'connected_gene': 'BEST1', 'score': 11.16}, {'connected_gene': 'FTH1', 'score': 11.0}, {'connected_gene': 'FADS1', 'score': 10.78}, {'connected_gene': 'MYRF', 'score': 9.77}, {'connected_gene': 'DKFZP434K028', 'score': 9.77}, {'connected_gene': 'GC11M062088', 'score': 0.37}]
chr11 GH11I062104 62104194 62106688 1.35 [{'connected_gene': 'FTH1', 'score': 14.08}, {'connected_gene': 'INCENP', 'score': 13.68}, {'connected_gene': 'RAB3IL1', 'score': 11.56}, {'connected_gene': 'FADS3', 'score': 11.53}, {'connected_gene': 'BEST1', 'score': 11.16}, {'connected_gene': 'FADS1', 'score': 10.78}, {'connected_gene': 'MYRF', 'score': 9.77}, {'connected_gene': 'DKFZP434K028', 'score': 9.77}, {'connected_gene': 'DAGLA', 'score': 6.85}, {'connected_gene': 'GC11M062088', 'score': 0.39}]
chr11 GH11I061655 61655798 61656527 0.31 [{'connected_gene': 'ENSG00000255947', 'score': 550.77}, {'connected_gene': 'DKFZP434K028', 'score': 5.18}, {'connected_gene': 'GC11M061648', 'score': 0.77}]