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
ENST00000444397 [[35310334, 35310458], [35314843, 35314927], [35378763, 35378994], [35387903, 35388058], [35389596, 35389735], [35391722, 35391925], [35392105, 35393171]] [[35378864, 35378994], [35387903, 35388058], [35389596, 35389735], [35391722, 35391925], [35392105, 35392564]]
ENST00000360694 [[35310334, 35310458], [35314843, 35314927], [35378763, 35378994], [35387903, 35388058], [35389596, 35389735], [35391722, 35391925], [35392105, 35392556], [35393608, 35395968]] [[35378864, 35378994], [35387903, 35388058], [35389596, 35389735], [35391722, 35391925], [35392105, 35392556], [35393608, 35393856]]
ENST00000418635 [[35310334, 35310458], [35314843, 35314927], [35378763, 35378994], [35391722, 35391925], [35392105, 35392556], [35393608, 35395968]] [[35378864, 35378994], [35391722, 35391925], [35392105, 35392556], [35393608, 35393856]]
ENST00000448077 [[35310334, 35310458], [35314843, 35314927], [35387903, 35388058], [35389596, 35389735], [35391722, 35391925], [35392105, 35392556], [35393608, 35395968]] [[35314914, 35314927], [35387903, 35388058], [35389596, 35389735], [35391722, 35391925], [35392105, 35392556], [35393608, 35393856]]
ENST00000337400 [[35310390, 35310458], [35314843, 35314927], [35365274, 35365370], [35378763, 35378994], [35387903, 35388058], [35389596, 35389735], [35391722, 35391925], [35392105, 35393170]] [[35378864, 35378994], [35387903, 35388058], [35389596, 35389735], [35391722, 35391925], [35392105, 35392564]]
ENST00000311565 [[35310390, 35310458], [35314843, 35314927], [35365274, 35365370], [35378763, 35378994], [35387903, 35388058], [35389596, 35389735], [35391722, 35391925], [35392105, 35392556], [35393608, 35395955]] [[35378864, 35378994], [35387903, 35388058], [35389596, 35389735], [35391722, 35391925], [35392105, 35392556], [35393608, 35393856]]
ENST00000540939 [[35310401, 35310458], [35378763, 35378930], [35389596, 35389735], [35391722, 35391925], [35392105, 35392556], [35393608, 35394096]] [[35389620, 35389735], [35391722, 35391925], [35392105, 35392556], [35393608, 35393856]]
NM_177435 [[35310334, 35310458], [35314843, 35314927], [35378763, 35378994], [35387903, 35388058], [35389596, 35389735], [35391722, 35391925], [35392105, 35393173]] [[35378864, 35378994], [35387903, 35388058], [35389596, 35389735], [35391722, 35391925], [35392105, 35392564]]
NM_001171819 [[35310334, 35310458], [35314843, 35314927], [35387903, 35388058], [35389596, 35389735], [35391722, 35391925], [35392105, 35392556], [35393608, 35395968]] [[35314914, 35314927], [35387903, 35388058], [35389596, 35389735], [35391722, 35391925], [35392105, 35392556], [35393608, 35393856]]
NM_001171820 [[35310334, 35310458], [35314843, 35314927], [35378763, 35378994], [35391722, 35391925], [35392105, 35392556], [35393608, 35395968]] [[35378864, 35378994], [35391722, 35391925], [35392105, 35392556], [35393608, 35393856]]
NM_006238 [[35310334, 35310458], [35314843, 35314927], [35378763, 35378994], [35387903, 35388058], [35389596, 35389735], [35391722, 35391925], [35392105, 35392556], [35393608, 35395968]] [[35378864, 35378994], [35387903, 35388058], [35389596, 35389735], [35391722, 35391925], [35392105, 35392556], [35393608, 35393856]]
NM_001171818 [[35310334, 35310458], [35314843, 35314927], [35365274, 35365370], [35378763, 35378994], [35387903, 35388058], [35389596, 35389735], [35391722, 35391925], [35392105, 35392556], [35393608, 35395968]] [[35378864, 35378994], [35387903, 35388058], [35389596, 35389735], [35391722, 35391925], [35392105, 35392556], [35393608, 35393856]]
Promoter
Chrom Start End Description
chr6 35310312 35310359 CAGE_peak_1_at_PPARD_5end
chr6 35310363 35310382 CAGE_peak_3_at_PPARD_5end
chr6 35310395 35310410 CAGE_peak_2_at_PPARD_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I035317 35317817 35319463 1.63 [{'connected_gene': 'ZNF76', 'score': 23.41}, {'connected_gene': 'TAF11', 'score': 14.95}, {'connected_gene': 'ENSG00000272374', 'score': 14.54}, {'connected_gene': 'DEF6', 'score': 12.68}, {'connected_gene': 'PPARD', 'score': 11.94}, {'connected_gene': 'TCP11', 'score': 11.8}, {'connected_gene': 'TEAD3', 'score': 11.31}, {'connected_gene': 'TULP1', 'score': 11.29}]
chr6 GH06I035316 35316326 35317643 0.38 [{'connected_gene': 'ZNF76', 'score': 12.56}, {'connected_gene': 'PPARD', 'score': 11.91}, {'connected_gene': 'TEAD3', 'score': 11.3}, {'connected_gene': 'TULP1', 'score': 11.29}, {'connected_gene': 'DEF6', 'score': 8.4}, {'connected_gene': 'TAF11', 'score': 5.57}]
chr6 GH06I035258 35258164 35262233 2.44 [{'connected_gene': 'ZNF76', 'score': 581.98}, {'connected_gene': 'GC06M038602', 'score': 550.77}, {'connected_gene': 'LOC101929285', 'score': 550.77}, {'connected_gene': 'TAF11', 'score': 77.83}, {'connected_gene': 'ENSG00000272374', 'score': 36.28}, {'connected_gene': 'DEF6', 'score': 20.67}, {'connected_gene': 'RPL10A', 'score': 13.27}, {'connected_gene': 'RPS10', 'score': 11.8}, {'connected_gene': 'ENSG00000219023', 'score': 11.73}, {'connected_gene': 'TCP11', 'score': 11.24}, {'connected_gene': 'BRPF3', 'score': 10.5}, {'connected_gene': 'FANCE', 'score': 10.12}, {'connected_gene': 'ANKS1A', 'score': 9.85}, {'connected_gene': 'MAPK14', 'score': 9.75}, {'connected_gene': 'PPARD', 'score': 7.4}, {'connected_gene': 'C6orf106', 'score': 4.23}, {'connected_gene': 'ENSG00000217004', 'score': 0.37}]
chr6 GH06I035417 35417815 35420502 0.85 [{'connected_gene': 'TEAD3', 'score': 6.65}, {'connected_gene': 'C6orf106', 'score': 5.79}, {'connected_gene': 'GC06P042385', 'score': 0.44}, {'connected_gene': 'PPARD', 'score': 0.18}]
chr6 GH06I035503 35503095 35504668 0.49 [{'connected_gene': 'TEAD3', 'score': 15.94}, {'connected_gene': 'ARMC12', 'score': 10.69}, {'connected_gene': 'FKBP5', 'score': 10.69}, {'connected_gene': 'ENSG00000232909', 'score': 10.68}, {'connected_gene': 'PPARD', 'score': 10.37}, {'connected_gene': 'TULP1', 'score': 0.44}]
chr6 GH06I035389 35389805 35394793 1.25 [{'connected_gene': 'TAF11', 'score': 9.24}, {'connected_gene': 'UHRF1BP1', 'score': 8.25}, {'connected_gene': 'LOC102723648', 'score': 4.28}, {'connected_gene': 'GC06P042385', 'score': 0.29}, {'connected_gene': 'PPARD', 'score': 0.25}]
chr6 GH06I035362 35362159 35364307 1.65 [{'connected_gene': 'TAF11', 'score': 20.1}, {'connected_gene': 'BRPF3', 'score': 10.51}, {'connected_gene': 'FANCE', 'score': 10.21}, {'connected_gene': 'UHRF1BP1', 'score': 8.03}, {'connected_gene': 'DEF6', 'score': 6.37}, {'connected_gene': 'C6orf106', 'score': 4.22}, {'connected_gene': 'PPARD', 'score': 2.37}, {'connected_gene': 'GC06P042385', 'score': 0.21}]
chr6 GH06I035594 35594849 35604777 1.7 [{'connected_gene': 'TAF11', 'score': 31.61}, {'connected_gene': 'ENSG00000272374', 'score': 23.37}, {'connected_gene': 'FKBP5', 'score': 13.63}, {'connected_gene': 'ZNF76', 'score': 12.49}, {'connected_gene': 'ENSG00000212579', 'score': 12.13}, {'connected_gene': 'ENSG00000232909', 'score': 11.67}, {'connected_gene': 'ARMC12', 'score': 11.67}, {'connected_gene': 'ENSG00000228559', 'score': 10.28}, {'connected_gene': 'ANKS1A', 'score': 9.83}, {'connected_gene': 'TULP1', 'score': 7.45}, {'connected_gene': 'DEF6', 'score': 7.07}, {'connected_gene': 'MAPK14', 'score': 3.6}, {'connected_gene': 'RPL10A', 'score': 2.71}, {'connected_gene': 'PPARD', 'score': 2.69}, {'connected_gene': 'SLC26A8', 'score': 1.76}, {'connected_gene': 'RPL36P9', 'score': 0.44}, {'connected_gene': 'ENSG00000219023', 'score': 0.26}]
chr6 GH06I035388 35388664 35389390 0.31 [{'connected_gene': 'UHRF1BP1', 'score': 7.96}, {'connected_gene': 'GC06P042385', 'score': 0.28}, {'connected_gene': 'PPARD', 'score': 0.25}]
chr6 GH06I035414 35414369 35416068 1.16 [{'connected_gene': 'UHRF1BP1', 'score': 5.3}, {'connected_gene': 'GC06P042385', 'score': 0.39}, {'connected_gene': 'PPARD', 'score': 0.19}]
chr6 GH06I035396 35396601 35398702 0.69 [{'connected_gene': 'UHRF1BP1', 'score': 6.91}, {'connected_gene': 'DEF6', 'score': 6.51}, {'connected_gene': 'GC06P042385', 'score': 0.31}, {'connected_gene': 'PPARD', 'score': 0.22}]
chr6 GH06I035399 35399563 35403784 1.3 [{'connected_gene': 'UHRF1BP1', 'score': 6.88}, {'connected_gene': 'SCUBE3', 'score': 6.66}, {'connected_gene': 'TEAD3', 'score': 6.64}, {'connected_gene': 'PPARD', 'score': 4.74}, {'connected_gene': 'SNRPC', 'score': 4.53}, {'connected_gene': 'RPS10', 'score': 4.25}, {'connected_gene': 'GC06P042385', 'score': 0.31}]
chr6 GH06I035376 35376383 35377955 0.6 [{'connected_gene': 'PPARD', 'score': 12.36}, {'connected_gene': 'ZNF76', 'score': 10.67}, {'connected_gene': 'DEF6', 'score': 8.13}, {'connected_gene': 'GC06P042385', 'score': 0.25}]
chr6 GH06I035380 35380731 35381766 0.4 [{'connected_gene': 'PPARD', 'score': 12.29}, {'connected_gene': 'C6orf106', 'score': 4.22}, {'connected_gene': 'GC06P042385', 'score': 0.25}]
chr6 GH06I035385 35385600 35387652 1.03 [{'connected_gene': 'PPARD', 'score': 12.27}, {'connected_gene': 'UHRF1BP1', 'score': 8.02}, {'connected_gene': 'DEF6', 'score': 5.39}, {'connected_gene': 'RPS10', 'score': 4.68}, {'connected_gene': 'C6orf106', 'score': 4.22}, {'connected_gene': 'GC06P042385', 'score': 0.26}]
chr6 GH06I035366 35366872 35372201 1.74 [{'connected_gene': 'PPARD', 'score': 31.66}, {'connected_gene': 'DEF6', 'score': 8.17}, {'connected_gene': 'UHRF1BP1', 'score': 8.02}, {'connected_gene': 'SNRPC', 'score': 4.83}, {'connected_gene': 'ARMC12', 'score': 4.8}, {'connected_gene': 'C6orf106', 'score': 4.22}, {'connected_gene': 'ZNF76', 'score': 1.95}, {'connected_gene': 'RPL10A', 'score': 1.25}, {'connected_gene': 'GC06P042385', 'score': 0.22}]
chr6 GH06I035341 35341664 35344831 2.59 [{'connected_gene': 'PPARD', 'score': 561.32}, {'connected_gene': 'FANCE', 'score': 31.21}, {'connected_gene': 'TAF11', 'score': 28.91}, {'connected_gene': 'FKBP5', 'score': 18.53}, {'connected_gene': 'RPS10', 'score': 12.57}, {'connected_gene': 'RPL10A', 'score': 12.35}, {'connected_gene': 'TEAD3', 'score': 10.53}, {'connected_gene': 'BRPF3', 'score': 10.5}, {'connected_gene': 'ENSG00000219023', 'score': 10.21}, {'connected_gene': 'MAPK14', 'score': 10.06}, {'connected_gene': 'DEF6', 'score': 8.32}, {'connected_gene': 'UHRF1BP1', 'score': 7.86}, {'connected_gene': 'C6orf106', 'score': 7.28}, {'connected_gene': 'ZNF76', 'score': 1.78}, {'connected_gene': 'GC06P042385', 'score': 0.18}]
chr6 GH06I035365 35365704 35365853 0.69 [{'connected_gene': 'PPARD', 'score': 13.07}, {'connected_gene': 'GC06P042385', 'score': 0.21}]
chr6 GH06I035296 35296980 35305805 2.54 [{'connected_gene': 'DEF6', 'score': 576.42}, {'connected_gene': 'ZNF76', 'score': 12.29}, {'connected_gene': 'TAF11', 'score': 2.94}, {'connected_gene': 'PPARD', 'score': 1.89}, {'connected_gene': 'ANKS1A', 'score': 1.22}]
chr6 GH06I035309 35309218 35313271 1.29 [{'connected_gene': 'DEF6', 'score': 43.98}, {'connected_gene': 'ZNF76', 'score': 13.41}, {'connected_gene': 'TAF11', 'score': 5.01}, {'connected_gene': 'RPL10A', 'score': 3.43}, {'connected_gene': 'FKBP5', 'score': 1.36}, {'connected_gene': 'PPARD', 'score': 0.29}]
chr6 GH06I035319 35319705 35323333 0.46 [{'connected_gene': 'DEF6', 'score': 20.71}, {'connected_gene': 'ZNF76', 'score': 12.55}, {'connected_gene': 'PPARD', 'score': 11.94}, {'connected_gene': 'TEAD3', 'score': 11.31}, {'connected_gene': 'TULP1', 'score': 11.29}, {'connected_gene': 'TCP11', 'score': 10.81}, {'connected_gene': 'C6orf106', 'score': 6.76}]
chr6 GH06I035332 35332364 35332513 0.9 [{'connected_gene': 'DEF6', 'score': 12.41}, {'connected_gene': 'ZNF76', 'score': 12.31}, {'connected_gene': 'PPARD', 'score': 0.39}]
chr6 GH06I035327 35327084 35328352 1.2 [{'connected_gene': 'DEF6', 'score': 20.46}, {'connected_gene': 'ZNF76', 'score': 12.32}, {'connected_gene': 'PPARD', 'score': 0.39}]
chr6 GH06I035307 35307184 35308514 0.72 [{'connected_gene': 'DEF6', 'score': 21.08}, {'connected_gene': 'ZNF76', 'score': 12.54}, {'connected_gene': 'PPARD', 'score': 0.29}]
chr6 GH06I035354 35354240 35355555 0.51 [{'connected_gene': 'DEF6', 'score': 7.94}, {'connected_gene': 'RPS10', 'score': 4.68}, {'connected_gene': 'PPARD', 'score': 0.39}, {'connected_gene': 'GC06P042385', 'score': 0.19}]
chr6 GH06I035347 35347995 35349583 0.8 [{'connected_gene': 'DEF6', 'score': 5.5}, {'connected_gene': 'RPS10', 'score': 4.68}, {'connected_gene': 'PPARD', 'score': 0.44}, {'connected_gene': 'GC06P042385', 'score': 0.18}]
chr6 GH06I035467 35467446 35472833 2.34 [{'connected_gene': 'RPL10A', 'score': 579.09}, {'connected_gene': 'MIR7111', 'score': 550.77}, {'connected_gene': 'TAF11', 'score': 72.43}, {'connected_gene': 'BRPF3', 'score': 42.68}, {'connected_gene': 'ZNF76', 'score': 40.7}, {'connected_gene': 'ENSG00000272374', 'score': 32.88}, {'connected_gene': 'FANCE', 'score': 18.24}, {'connected_gene': 'PPARD', 'score': 17.05}, {'connected_gene': 'ARMC12', 'score': 11.09}, {'connected_gene': 'ANKS1A', 'score': 10.36}, {'connected_gene': 'KCTD20', 'score': 10.05}, {'connected_gene': 'DEF6', 'score': 5.79}, {'connected_gene': 'UHRF1BP1', 'score': 4.92}]
chr6 GH06I035723 35723689 35734505 2.64 [{'connected_gene': 'FKBP5', 'score': 552.33}, {'connected_gene': 'TAF11', 'score': 78.9}, {'connected_gene': 'SRSF3', 'score': 50.38}, {'connected_gene': 'ZNF76', 'score': 33.26}, {'connected_gene': 'ENSG00000272374', 'score': 32.19}, {'connected_gene': 'RPL10A', 'score': 21.21}, {'connected_gene': 'STK38', 'score': 20.62}, {'connected_gene': 'ENSG00000219023', 'score': 20.21}, {'connected_gene': 'FANCE', 'score': 17.84}, {'connected_gene': 'PPARD', 'score': 12.85}, {'connected_gene': 'ENSG00000228559', 'score': 11.84}, {'connected_gene': 'ARMC12', 'score': 11.8}, {'connected_gene': 'TEAD3', 'score': 11.57}, {'connected_gene': 'MAPK14', 'score': 11.27}, {'connected_gene': 'ENSG00000212579', 'score': 11.11}, {'connected_gene': 'ENSG00000237719', 'score': 10.43}, {'connected_gene': 'BRPF3', 'score': 10.07}, {'connected_gene': 'ENSG00000232909', 'score': 0.44}, {'connected_gene': 'LOC285847', 'score': 0.44}]
chr6 GH06I035346 35346784 35346913 0.96 [{'connected_gene': 'FANCE', 'score': 10.2}, {'connected_gene': 'PPARD', 'score': 0.77}, {'connected_gene': 'GC06P042385', 'score': 0.18}]
chr6 GH06I035662 35662222 35666066 0.89 [{'connected_gene': 'MIR5690', 'score': 550.77}, {'connected_gene': 'FKBP5', 'score': 11.89}, {'connected_gene': 'ARMC12', 'score': 11.89}, {'connected_gene': 'ENSG00000232909', 'score': 11.88}, {'connected_gene': 'MAPK14', 'score': 4.28}, {'connected_gene': 'PPARD', 'score': 4.06}, {'connected_gene': 'GC06M038610', 'score': 0.77}]
chr6 GH06I035395 35395384 35395533 0.51 [{'connected_gene': 'GC06P042385', 'score': 0.29}, {'connected_gene': 'PPARD', 'score': 0.23}]
chr6 GH06I035411 35411201 35411400 0.31 [{'connected_gene': 'GC06P042385', 'score': 0.37}, {'connected_gene': 'PPARD', 'score': 0.2}]
chr6 GH06I035424 35424011 35429571 1.29 [{'connected_gene': 'GC06P042385', 'score': 550.77}, {'connected_gene': 'DEF6', 'score': 6.26}, {'connected_gene': 'TEAD3', 'score': 6.21}, {'connected_gene': 'ZNF76', 'score': 5.42}, {'connected_gene': 'UHRF1BP1', 'score': 4.56}, {'connected_gene': 'PPARD', 'score': 0.18}]
chr6 GH06I035359 35359416 35361435 1.39 [{'connected_gene': 'ENSG00000272374', 'score': 14.66}, {'connected_gene': 'DEF6', 'score': 6.85}, {'connected_gene': 'PPARD', 'score': 0.37}, {'connected_gene': 'GC06P042385', 'score': 0.2}]
chr6 GH06I035544 35544428 35545715 0.66 [{'connected_gene': 'ENSG00000228559', 'score': 565.88}, {'connected_gene': 'LOC101929309', 'score': 550.77}, {'connected_gene': 'TULP1', 'score': 18.39}, {'connected_gene': 'TEAD3', 'score': 11.9}, {'connected_gene': 'FKBP5', 'score': 10.63}, {'connected_gene': 'ARMC12', 'score': 10.63}, {'connected_gene': 'ENSG00000232909', 'score': 10.63}, {'connected_gene': 'PPARD', 'score': 10.4}, {'connected_gene': 'RPS15AP19', 'score': 0.39}]

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