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
ENST00000567632 [[97889471, 97889749], [97892342, 97892427], [97893312, 97893405], [97911172, 97911323], [97915680, 97915804], [97915953, 97922498]] None
ENST00000534948 [[97889471, 97889749], [97892342, 97892427], [97893312, 97893405], [97911172, 97911323], [97915680, 97915804], [97915953, 97920099], [97920101, 97923508]] None
ENST00000488700 [[97889491, 97889749], [97892342, 97892427], [97893339, 97893405], [97911172, 97911323], [97915082, 97915155], [97915680, 97915776]] None
ENST00000316045 [[97889655, 97889749], [97892342, 97892427], [97893339, 97893405], [97911172, 97911323], [97915082, 97915133], [97915680, 97915804], [97917646, 97920099], [97920101, 97920530]] None
ENST00000539666 [[97889812, 97889875], [97892342, 97892427], [97893339, 97893405], [97894926, 97895046], [97911172, 97911323]] None
ENST00000478086 [[97889812, 97889875], [97892342, 97892427], [97893312, 97893405], [97915082, 97915155], [97915680, 97915804], [97915953, 97917094]] None
ENST00000563195 [[97889828, 97889875], [97892342, 97892427], [97893312, 97893405], [97963675, 97965044]] None
ENST00000484770 [[97890435, 97890579], [97892342, 97892666]] None
ENST00000371192 [[97915099, 97915804], [97915953, 97923517]] None
ENST00000442635 [[97915769, 97915804], [97963329, 97963384], [97963675, 97963885]] None
NM_001278526 [[97889471, 97889749], [97892342, 97892427], [97893339, 97893405], [97911172, 97911323], [97915082, 97915133], [97915680, 97915804], [97917646, 97920098], [97920100, 97923517]] [[97917669, 97920098], [97920100, 97920530]]
NM_001278524 [[97889471, 97889749], [97892342, 97892427], [97893339, 97893405], [97911172, 97911323], [97915082, 97915155], [97915680, 97915804], [97915953, 97920098], [97920100, 97923517]] [[97916079, 97920098], [97920100, 97920530]]
NM_014803 [[97889471, 97889749], [97892342, 97892427], [97893312, 97893405], [97911172, 97911323], [97915680, 97915804], [97915953, 97920098], [97920100, 97923517]] [[97916079, 97920098], [97920100, 97920530]]
NR_138482 [[97889471, 97889749], [97892342, 97892427], [97893339, 97893405], [97963329, 97963384], [97963675, 97965047]] None
NM_001330732 [[97889812, 97889875], [97892342, 97892427], [97893339, 97893405], [97915082, 97915155], [97915680, 97915804], [97915953, 97920098], [97920100, 97923517]] [[97916079, 97920098], [97920100, 97920530]]
NM_001278525 [[97889812, 97889875], [97892342, 97892427], [97893312, 97893405], [97915082, 97915155], [97915680, 97915804], [97915953, 97920098], [97920100, 97923517]] [[97916079, 97920098], [97920100, 97920530]]
NM_001330736 [[97890036, 97890509], [97892342, 97892427], [97893339, 97893405], [97915082, 97915133], [97915680, 97915804], [97915953, 97920098], [97920100, 97923517]] [[97916079, 97920098], [97920100, 97920530]]
NM_001330737 [[97890036, 97890509], [97892342, 97892427], [97893339, 97893405], [97896583, 97896637], [97915082, 97915133], [97915680, 97915804], [97915953, 97920098], [97920100, 97923517]] [[97916079, 97920098], [97920100, 97920530]]
NM_001330735 [[97890036, 97890509], [97892342, 97892427], [97893312, 97893405], [97915082, 97915133], [97915680, 97915804], [97915953, 97920098], [97920100, 97923517]] [[97916079, 97920098], [97920100, 97920530]]
NM_001330733 [[97890036, 97890509], [97892342, 97892427], [97893312, 97893405], [97911172, 97911323], [97915082, 97915133], [97915680, 97915804], [97915953, 97920098], [97920100, 97923517]] [[97916079, 97920098], [97920100, 97920530]]
NM_001330738 [[97890036, 97890509], [97892342, 97892427], [97893312, 97893405], [97894926, 97895046], [97915082, 97915133], [97915680, 97915804], [97915953, 97920098], [97920100, 97923517]] [[97916079, 97920098], [97920100, 97920530]]
NM_001330734 [[97890378, 97890579], [97892342, 97892427], [97893339, 97893405], [97911172, 97911323], [97915082, 97915133], [97915680, 97915804], [97915953, 97920098], [97920100, 97923517]] [[97916079, 97920098], [97920100, 97920530]]
Promoter
Chrom Start End Description
chr10 97889464 97889494 CAGE_peak_3_at_ZNF518A_5end
chr10 97889754 97889765 CAGE_peak_8_at_ZNF518A_5end
chr10 97889784 97889827 CAGE_peak_1_at_ZNF518A_5end
chr10 97890024 97890064 CAGE_peak_2_at_ZNF518A_5end
chr10 97890262 97890298 CAGE_peak_4_at_ZNF518A_5end
chr10 97890311 97890324 CAGE_peak_6_at_ZNF518A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I096840 96840430 96845200 1.22 [{'connected_gene': 'ZNF518A', 'score': 10.14}, {'connected_gene': 'LCOR', 'score': 0.39}, {'connected_gene': 'LOC102723665', 'score': 0.39}, {'connected_gene': 'HMGN2P35', 'score': 0.19}]
chr10 GH10I096128 96128791 96132122 2.1 [{'connected_gene': 'ZNF518A', 'score': 582.93}, {'connected_gene': 'GC10M096129', 'score': 550.77}, {'connected_gene': 'CCNJ', 'score': 30.76}, {'connected_gene': 'LCOR', 'score': 19.16}, {'connected_gene': 'NPM1P26', 'score': 14.71}, {'connected_gene': 'TCTN3', 'score': 13.78}, {'connected_gene': 'RPL13AP5', 'score': 11.09}, {'connected_gene': 'TM9SF3', 'score': 10.22}, {'connected_gene': 'ENTPD1-AS1', 'score': 9.69}, {'connected_gene': 'GC10M096095', 'score': 0.06}]
chr10 GH10I096579 96579668 96582325 1.38 [{'connected_gene': 'ZNF518A', 'score': 82.98}, {'connected_gene': 'TCTN3', 'score': 59.36}, {'connected_gene': 'MMS19', 'score': 55.51}, {'connected_gene': 'CCNJ', 'score': 46.66}, {'connected_gene': 'LCOR', 'score': 31.1}, {'connected_gene': 'EXOSC1', 'score': 28.84}, {'connected_gene': 'NPM1P26', 'score': 26.77}, {'connected_gene': 'TM9SF3', 'score': 12.22}, {'connected_gene': 'MIR607', 'score': 10.61}, {'connected_gene': 'ALDH18A1', 'score': 10.08}, {'connected_gene': 'ENTPD1-AS1', 'score': 9.82}, {'connected_gene': 'LOC105378443', 'score': 0.44}]
chr10 GH10I095495 95495070 95498696 0.65 [{'connected_gene': 'ZNF518A', 'score': 24.17}, {'connected_gene': 'TCTN3', 'score': 14.63}, {'connected_gene': 'CCNJ', 'score': 13.66}, {'connected_gene': 'SORBS1', 'score': 11.99}, {'connected_gene': 'HELLS', 'score': 10.03}, {'connected_gene': 'GC10M095525', 'score': 0.29}, {'connected_gene': 'PIR43800', 'score': 0.18}]
chr10 GH10I095696 95696848 95698600 0.72 [{'connected_gene': 'ZNF518A', 'score': 10.15}, {'connected_gene': 'TCTN3', 'score': 8.98}, {'connected_gene': 'CC2D2B', 'score': 8.89}, {'connected_gene': 'ENTPD1', 'score': 0.39}]
chr10 GH10I095766 95766707 95770854 1.47 [{'connected_gene': 'ENTPD1', 'score': 34.1}, {'connected_gene': 'TCTN3', 'score': 19.38}, {'connected_gene': 'CC2D2B', 'score': 9.24}, {'connected_gene': 'ENTPD1-AS1', 'score': 5.55}, {'connected_gene': 'ALDH18A1', 'score': 4.54}, {'connected_gene': 'ZNF518A', 'score': 1.47}, {'connected_gene': 'GC10M095714', 'score': 0.28}]
chr10 GH10I095317 95317934 95320577 0.49 [{'connected_gene': 'PDLIM1', 'score': 11.18}, {'connected_gene': 'ZNF518A', 'score': 10.47}, {'connected_gene': 'GC10M095392', 'score': 0.19}, {'connected_gene': 'SORBS1', 'score': 0.07}]
chr10 GH10I095320 95320595 95323391 0.38 [{'connected_gene': 'PDLIM1', 'score': 15.78}, {'connected_gene': 'NOC3L', 'score': 12.07}, {'connected_gene': 'TCTN3', 'score': 11.67}, {'connected_gene': 'ZNF518A', 'score': 10.38}, {'connected_gene': 'GC10M095392', 'score': 0.19}, {'connected_gene': 'SORBS1', 'score': 0.07}]
chr10 GH10I096830 96830042 96834898 2.03 [{'connected_gene': 'LCOR', 'score': 562.46}, {'connected_gene': 'LOC102723665', 'score': 550.77}, {'connected_gene': 'GC10M096831', 'score': 550.77}, {'connected_gene': 'ZNF518A', 'score': 19.35}, {'connected_gene': 'CCNJ', 'score': 15.65}, {'connected_gene': 'MMS19', 'score': 14.94}, {'connected_gene': 'EXOSC1', 'score': 11.65}, {'connected_gene': 'HMGN2P35', 'score': 0.18}]
chr10 GH10I096123 96123773 96125901 1.22 [{'connected_gene': 'ENTPD1-AS1', 'score': 7.54}, {'connected_gene': 'ZNF518A', 'score': 5.26}, {'connected_gene': 'GC10P096113', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.06}]
chr10 GH10I096118 96118244 96119473 0.54 [{'connected_gene': 'ENTPD1-AS1', 'score': 7.56}, {'connected_gene': 'GC10P096113', 'score': 0.44}, {'connected_gene': 'ZNF518A', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.06}]
chr10 GH10I096088 96088767 96090927 1.61 [{'connected_gene': 'ENTPD1-AS1', 'score': 557.91}, {'connected_gene': 'TCTN3', 'score': 32.45}, {'connected_gene': 'ZNF518A', 'score': 26.05}, {'connected_gene': 'RPL13AP5', 'score': 19.04}, {'connected_gene': 'NPM1P26', 'score': 14.71}, {'connected_gene': 'CCNJ', 'score': 12.9}, {'connected_gene': 'RNU6-271P', 'score': 12.15}, {'connected_gene': 'LCOR', 'score': 10.33}, {'connected_gene': 'TM9SF3', 'score': 10.21}, {'connected_gene': 'CC2D2B', 'score': 9.86}, {'connected_gene': 'GC10P096086', 'score': 0.77}]
chr10 GH10I096514 96514424 96514593 0.6 [{'connected_gene': 'TLL2', 'score': 550.77}, {'connected_gene': 'ZNF518A', 'score': 14.72}, {'connected_gene': 'MMS19', 'score': 9.69}, {'connected_gene': 'NPM1P26', 'score': 0.25}]
chr10 GH10I096513 96513000 96514394 1.93 [{'connected_gene': 'TLL2', 'score': 556.79}, {'connected_gene': 'NPM1P26', 'score': 27.9}, {'connected_gene': 'ZNF518A', 'score': 24.06}, {'connected_gene': 'TCTN3', 'score': 11.76}, {'connected_gene': 'EXOSC1', 'score': 10.2}, {'connected_gene': 'ALDH18A1', 'score': 10.08}, {'connected_gene': 'MMS19', 'score': 9.69}, {'connected_gene': 'GC10M096095', 'score': 0.15}]
chr10 GH10I095654 95654428 95657458 2.21 [{'connected_gene': 'ALDH18A1', 'score': 560.99}, {'connected_gene': 'ZNF518A', 'score': 20.65}, {'connected_gene': 'TCTN3', 'score': 17.14}, {'connected_gene': 'ENTPD1', 'score': 10.37}, {'connected_gene': 'PIR60482', 'score': 0.29}]
chr10 GH10I097037 97037201 97038400 1.11 [{'connected_gene': 'TM9SF3', 'score': 23.07}, {'connected_gene': 'EXOSC1', 'score': 20.32}, {'connected_gene': 'ZNF518A', 'score': 16.22}, {'connected_gene': 'MARVELD1', 'score': 13.19}, {'connected_gene': 'RPL13AP5', 'score': 12.65}, {'connected_gene': 'CCNJ', 'score': 9.66}, {'connected_gene': 'GC10M097006', 'score': 0.29}, {'connected_gene': 'PIR52854', 'score': 0.29}, {'connected_gene': 'SLIT1', 'score': 0.11}]
chr10 GH10I096040 96040585 96041764 0.2 [{'connected_gene': 'CCNJ', 'score': 550.77}, {'connected_gene': 'ZNF518A', 'score': 5.98}, {'connected_gene': 'ENTPD1-AS1', 'score': 5.03}, {'connected_gene': 'RPL21P90', 'score': 0.26}]
chr10 GH10I096042 96042843 96045637 2 [{'connected_gene': 'CCNJ', 'score': 550.77}, {'connected_gene': 'ZNF518A', 'score': 23.43}, {'connected_gene': 'TCTN3', 'score': 11.68}, {'connected_gene': 'MIR3157', 'score': 0.34}, {'connected_gene': 'ENTPD1-AS1', 'score': 0.25}]
chr10 GH10I096017 96017304 96017453 0.66 [{'connected_gene': 'CCNJ', 'score': 12.35}, {'connected_gene': 'ENTPD1-AS1', 'score': 12.2}, {'connected_gene': 'BLNK', 'score': 10.49}, {'connected_gene': 'ZNF518A', 'score': 5.2}, {'connected_gene': 'RPL21P90', 'score': 0.37}, {'connected_gene': 'CC2D2B', 'score': 0.14}]
chr10 GH10I096266 96266533 96274946 2.6 [{'connected_gene': 'BLNK', 'score': 573.44}, {'connected_gene': 'ZNF518A', 'score': 1.29}, {'connected_gene': 'GC10M096216', 'score': 0.34}, {'connected_gene': 'GC10M096095', 'score': 0.11}]
chr10 GH10I096305 96305151 96305272 0.42 [{'connected_gene': 'DNTT', 'score': 554.52}, {'connected_gene': 'ENSG00000229418', 'score': 550.77}, {'connected_gene': 'BLNK', 'score': 15.74}, {'connected_gene': 'CCNJ', 'score': 1.88}, {'connected_gene': 'ZNF518A', 'score': 1.62}, {'connected_gene': 'CC2D2B', 'score': 1.27}, {'connected_gene': 'GC10M096095', 'score': 0.14}]
chr10 GH10I096548 96548795 96549070 0.47 [{'connected_gene': 'PIK3AP1', 'score': 13.53}, {'connected_gene': 'LCOR', 'score': 4.93}, {'connected_gene': 'TM9SF3', 'score': 1.67}, {'connected_gene': 'ZNF518A', 'score': 1.31}, {'connected_gene': 'NPM1P26', 'score': 0.39}, {'connected_gene': 'TLL2', 'score': 0.28}]
chr10 GH10I095528 95528356 95546229 1.44 [{'connected_gene': 'SORBS1', 'score': 11.95}, {'connected_gene': 'ZNF518A', 'score': 11.88}, {'connected_gene': 'CCNJ', 'score': 10.8}, {'connected_gene': 'GC10M095525', 'score': 0.39}, {'connected_gene': 'GC10M095545', 'score': 0.39}]
chr10 GH10I095558 95558467 95563231 2.47 [{'connected_gene': 'SORBS1', 'score': 570.06}, {'connected_gene': 'TCTN3', 'score': 26.01}, {'connected_gene': 'CCNJ', 'score': 12.61}, {'connected_gene': 'ZNF518A', 'score': 9.83}, {'connected_gene': 'ALDH18A1', 'score': 5.5}, {'connected_gene': 'ACSM6', 'score': 1.52}, {'connected_gene': 'GC10M095545', 'score': 0.39}]
chr10 GH10I096065 96065181 96066487 0.72 [{'connected_gene': 'MIR3157', 'score': 550.77}, {'connected_gene': 'ENTPD1-AS1', 'score': 9.75}, {'connected_gene': 'ZNF518A', 'score': 5.74}, {'connected_gene': 'GC10P096083', 'score': 0.37}]
chr10 GH10I095181 95181844 95181993 0.46 [{'connected_gene': 'PAWRP1', 'score': 550.77}, {'connected_gene': 'ZNF518A', 'score': 11.38}, {'connected_gene': 'HELLS', 'score': 10.7}, {'connected_gene': 'PDLIM1', 'score': 9.97}, {'connected_gene': 'ENTPD1-AS1', 'score': 9.8}, {'connected_gene': 'CYP2C8', 'score': 5.15}, {'connected_gene': 'ENSG00000274691', 'score': 0.44}]
chr10 GH10I095182 95182816 95184401 1.75 [{'connected_gene': 'PAWRP1', 'score': 550.77}, {'connected_gene': 'ZNF518A', 'score': 24.17}, {'connected_gene': 'TCTN3', 'score': 17.19}, {'connected_gene': 'CCNJ', 'score': 13.66}, {'connected_gene': 'PDLIM1', 'score': 10.58}, {'connected_gene': 'HELLS', 'score': 10.03}, {'connected_gene': 'ENTPD1-AS1', 'score': 9.7}, {'connected_gene': 'CYP2C8', 'score': 8.18}, {'connected_gene': 'ACSM6', 'score': 5.27}, {'connected_gene': 'SORBS1', 'score': 2.28}, {'connected_gene': 'ENSG00000274691', 'score': 0.39}]
chr10 GH10I096801 96801414 96801947 0.74 [{'connected_gene': 'GC10P096801', 'score': 550.77}, {'connected_gene': 'MMS19', 'score': 21.8}, {'connected_gene': 'ZNF518A', 'score': 21.74}, {'connected_gene': 'CCNJ', 'score': 20.91}, {'connected_gene': 'RPL13AP5', 'score': 14.11}, {'connected_gene': 'LCOR', 'score': 13.47}, {'connected_gene': 'NPM1P26', 'score': 13.42}, {'connected_gene': 'EXOSC1', 'score': 12.57}, {'connected_gene': 'ZFYVE27', 'score': 11.54}, {'connected_gene': 'ENTPD1-AS1', 'score': 10.18}, {'connected_gene': 'MIR607', 'score': 0.31}]
chr10 GH10I096642 96641225 96641580 1.02 [{'connected_gene': 'GC10M096631', 'score': 550.77}, {'connected_gene': 'TCTN3', 'score': 25.27}, {'connected_gene': 'ZNF518A', 'score': 24.18}, {'connected_gene': 'CCNJ', 'score': 22.68}, {'connected_gene': 'LCOR', 'score': 22.05}, {'connected_gene': 'EXOSC1', 'score': 20.77}, {'connected_gene': 'NPM1P26', 'score': 19.64}, {'connected_gene': 'PIK3AP1', 'score': 12.82}, {'connected_gene': 'MIR607', 'score': 11.94}, {'connected_gene': 'MMS19', 'score': 11.36}, {'connected_gene': 'TM9SF3', 'score': 11.31}, {'connected_gene': 'RPL13AP5', 'score': 10.79}, {'connected_gene': 'ZDHHC16', 'score': 9.8}, {'connected_gene': 'RPS2P36', 'score': 0.37}]
chr10 GH10I096640 96640944 96641173 1.05 [{'connected_gene': 'GC10M096631', 'score': 550.77}, {'connected_gene': 'TCTN3', 'score': 25.27}, {'connected_gene': 'ZNF518A', 'score': 24.18}, {'connected_gene': 'CCNJ', 'score': 22.68}, {'connected_gene': 'EXOSC1', 'score': 20.77}, {'connected_gene': 'NPM1P26', 'score': 11.81}, {'connected_gene': 'MMS19', 'score': 11.36}, {'connected_gene': 'TM9SF3', 'score': 11.31}, {'connected_gene': 'RPL13AP5', 'score': 10.79}, {'connected_gene': 'LCOR', 'score': 10.2}, {'connected_gene': 'ZDHHC16', 'score': 9.8}, {'connected_gene': 'RPS2P36', 'score': 0.37}, {'connected_gene': 'PIK3AP1', 'score': 0.18}]

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