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
ENST00000216797 [[35870716, 35871266], [35871599, 35871869], [35871976, 35872065], [35872355, 35872566], [35872895, 35873004], [35873623, 35873952]] [[35871218, 35871266], [35871599, 35871869], [35871976, 35872065], [35872355, 35872566], [35872895, 35873004], [35873623, 35873850]]
ENST00000554001 [[35870739, 35871266], [35871599, 35871869], [35871976, 35872065], [35872355, 35872566], [35873623, 35873922]] [[35872544, 35872566], [35873623, 35873850]]
ENST00000557140 [[35870745, 35871266], [35871599, 35871740], [35871976, 35872065], [35872355, 35872566], [35872895, 35873004], [35873623, 35873952]] [[35871218, 35871266], [35871599, 35871740], [35871976, 35872065], [35872355, 35872566], [35872895, 35873004], [35873623, 35873850]]
ENST00000557389 [[35870750, 35871266], [35871599, 35871869], [35871976, 35872065], [35872355, 35872566], [35872895, 35873346]] [[35871218, 35871266], [35871599, 35871869], [35871976, 35872065], [35872355, 35872566], [35872895, 35872961]]
ENST00000555371 [[35871131, 35871266], [35871599, 35872065], [35872355, 35872444]] None
ENST00000557100 [[35871647, 35871869], [35872355, 35872566], [35872895, 35873004], [35873623, 35873906]] None
ENST00000556664 [[35871858, 35871869], [35871976, 35872065], [35872355, 35872636]] None
ENST00000557459 [[35872220, 35872566], [35872895, 35873004], [35873623, 35873948]] None
ENST00000555629 [[35872737, 35873004], [35873623, 35873955]] None
ENST00000553342 [[35872953, 35873004], [35873623, 35873643], [35873715, 35873856]] [[35872953, 35873004], [35873623, 35873643], [35873715, 35873850]]
NM_020529 [[35870715, 35871266], [35871599, 35871869], [35871976, 35872065], [35872355, 35872566], [35872895, 35873004], [35873623, 35873960]] [[35871218, 35871266], [35871599, 35871869], [35871976, 35872065], [35872355, 35872566], [35872895, 35873004], [35873623, 35873850]]
Promoter
Chrom Start End Description
chr14 35872414 35872425 CAGE_peak_7_at_NFKBIA_5end
chr14 35872453 35872485 CAGE_peak_2_at_NFKBIA_5end
chr14 35872494 35872511 CAGE_peak_5_at_NFKBIA_5end
chr14 35872542 35872553 CAGE_peak_10_at_NFKBIA_5end
chr14 35872926 35872951 CAGE_peak_4_at_NFKBIA_5end
chr14 35872962 35873025 CAGE_peak_3_at_NFKBIA_5end
chr14 35873069 35873078 CAGE_peak_13_at_NFKBIA_5end
chr14 35873101 35873119 CAGE_peak_6_at_NFKBIA_5end
chr14 35873136 35873155 CAGE_peak_9_at_NFKBIA_5end
chr14 35873947 35873965 CAGE_peak_1_at_NFKBIA_5end
chr14 35874077 35874091 CAGE_peak_8_at_NFKBIA_5end
chr14 35874092 35874103 CAGE_peak_16_at_NFKBIA_5end
chr14 35874125 35874149 CAGE_peak_11_at_NFKBIA_5end
chr14 35874260 35874272 CAGE_peak_18_at_NFKBIA_5end
chr14 35874296 35874308 CAGE_peak_12_at_NFKBIA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I034980 34980419 34984294 2.12 [{'connected_gene': 'SRP54', 'score': 576.33}, {'connected_gene': 'SRP54-AS1', 'score': 550.77}, {'connected_gene': 'EAPP', 'score': 36.94}, {'connected_gene': 'FAM177A1', 'score': 19.07}, {'connected_gene': 'PSMA6', 'score': 16.23}, {'connected_gene': 'PPP2R3C', 'score': 16.04}, {'connected_gene': 'RPS19P3', 'score': 10.55}, {'connected_gene': 'BAZ1A', 'score': 10.04}, {'connected_gene': 'NFKBIA', 'score': 9.9}]
chr14 GH14I035291 35290645 35296179 2.27 [{'connected_gene': 'PSMA6', 'score': 561.5}, {'connected_gene': 'GC14P035293', 'score': 550.77}, {'connected_gene': 'GC14P035292', 'score': 550.77}, {'connected_gene': 'PPP2R3C', 'score': 21.72}, {'connected_gene': 'EAPP', 'score': 19.54}, {'connected_gene': 'RPS19P3', 'score': 10.53}, {'connected_gene': 'NFKBIA', 'score': 9.99}, {'connected_gene': 'FAM177A1', 'score': 9.98}, {'connected_gene': 'KIAA0391', 'score': 5.87}, {'connected_gene': 'RALGAPA1', 'score': 4.03}, {'connected_gene': 'GC14P035312', 'score': 0.37}, {'connected_gene': 'ENSG00000258790', 'score': 0.09}]
chr14 GH14I035346 35346820 35348113 1.37 [{'connected_gene': 'PSMA6', 'score': 32.0}, {'connected_gene': 'PPP2R3C', 'score': 13.47}, {'connected_gene': 'NFKBIA', 'score': 12.22}, {'connected_gene': 'RPS19P3', 'score': 11.3}, {'connected_gene': 'RALGAPA1', 'score': 10.38}, {'connected_gene': 'FAM177A1', 'score': 8.25}, {'connected_gene': 'GC14P035335', 'score': 0.39}, {'connected_gene': 'ENSG00000258860', 'score': 0.37}]
chr14 GH14I035195 35195713 35198581 1.12 [{'connected_gene': 'PSMA6', 'score': 10.94}, {'connected_gene': 'PPP2R3C', 'score': 10.31}, {'connected_gene': 'FAM177A1', 'score': 8.27}, {'connected_gene': 'SRP54-AS1', 'score': 5.51}, {'connected_gene': 'NFKBIA', 'score': 3.54}, {'connected_gene': 'BAZ1A', 'score': 2.09}, {'connected_gene': 'MRPL57P8', 'score': 0.34}, {'connected_gene': 'SEPT7P1', 'score': 0.28}, {'connected_gene': 'ENSG00000258790', 'score': 0.19}, {'connected_gene': 'KIAA0391', 'score': 0.18}]
chr14 GH14I035409 35409259 35409995 0.38 [{'connected_gene': 'PSMA6', 'score': 11.75}, {'connected_gene': 'NFKBIA', 'score': 0.77}, {'connected_gene': 'DNAJC8P1', 'score': 0.34}]
chr14 GH14I035303 35303061 35303782 0.31 [{'connected_gene': 'PSMA6', 'score': 20.4}, {'connected_gene': 'NFKBIA', 'score': 11.93}, {'connected_gene': 'FAM177A1', 'score': 9.8}, {'connected_gene': 'GC14P035312', 'score': 0.44}, {'connected_gene': 'GC14P035293', 'score': 0.39}, {'connected_gene': 'GC14P035292', 'score': 0.39}, {'connected_gene': 'ENSG00000258790', 'score': 0.09}]
chr14 GH14I035410 35410740 35411612 0.31 [{'connected_gene': 'PSMA6', 'score': 11.75}, {'connected_gene': 'CFL2', 'score': 10.31}, {'connected_gene': 'EAPP', 'score': 9.85}, {'connected_gene': 'RNU1-27P', 'score': 9.85}, {'connected_gene': 'NFKBIA', 'score': 0.44}, {'connected_gene': 'DNAJC8P1', 'score': 0.37}]
chr14 GH14I035412 35412851 35413800 1.28 [{'connected_gene': 'EAPP', 'score': 20.49}, {'connected_gene': 'RPS19P3', 'score': 14.69}, {'connected_gene': 'CFL2', 'score': 10.31}, {'connected_gene': 'RNU1-27P', 'score': 9.85}, {'connected_gene': 'NFKBIA', 'score': 0.44}, {'connected_gene': 'DNAJC8P1', 'score': 0.37}]
chr14 GH14I035383 35383304 35387174 1.61 [{'connected_gene': 'EAPP', 'score': 19.54}, {'connected_gene': 'NFKBIA', 'score': 15.54}, {'connected_gene': 'FAM177A1', 'score': 14.02}, {'connected_gene': 'PSMA6', 'score': 11.77}, {'connected_gene': 'RPS19P3', 'score': 10.53}, {'connected_gene': 'PPP2R3C', 'score': 10.25}, {'connected_gene': 'RALGAPA1', 'score': 2.5}, {'connected_gene': 'RPLP0P3', 'score': 0.77}, {'connected_gene': 'ENSG00000258860', 'score': 0.34}]
chr14 GH14I035120 35120562 35124322 2.31 [{'connected_gene': 'PPP2R3C', 'score': 582.8}, {'connected_gene': 'KIAA0391', 'score': 561.39}, {'connected_gene': 'ENSG00000258790', 'score': 550.77}, {'connected_gene': 'RPS19P3', 'score': 31.58}, {'connected_gene': 'EAPP', 'score': 28.34}, {'connected_gene': 'NFKBIA', 'score': 9.92}, {'connected_gene': 'FAM177A1', 'score': 8.72}, {'connected_gene': 'BAZ1A', 'score': 6.25}]
chr14 GH14I035364 35364292 35370675 1.81 [{'connected_gene': 'NFKBIA', 'score': 51.69}, {'connected_gene': 'PSMA6', 'score': 27.0}, {'connected_gene': 'BAZ1A', 'score': 22.21}, {'connected_gene': 'EAPP', 'score': 19.54}, {'connected_gene': 'PPP2R3C', 'score': 16.13}, {'connected_gene': 'RPS19P3', 'score': 10.54}, {'connected_gene': 'FAM177A1', 'score': 10.19}, {'connected_gene': 'RALGAPA1', 'score': 4.55}, {'connected_gene': 'SRP54', 'score': 2.15}, {'connected_gene': 'ENSG00000258860', 'score': 0.77}, {'connected_gene': 'RPLP0P3', 'score': 0.34}]
chr14 GH14I035396 35396835 35407430 2.58 [{'connected_gene': 'NFKBIA', 'score': 564.42}, {'connected_gene': 'PPP2R3C', 'score': 7.91}, {'connected_gene': 'FAM177A1', 'score': 7.55}, {'connected_gene': 'RALGAPA1', 'score': 7.3}, {'connected_gene': 'PSMA6', 'score': 5.02}, {'connected_gene': 'KIAA0391', 'score': 4.62}, {'connected_gene': 'SRP54', 'score': 1.24}, {'connected_gene': 'RPLP0P3', 'score': 0.39}]
chr14 GH14I035408 35408116 35408894 0.31 [{'connected_gene': 'NFKBIA', 'score': 0.77}, {'connected_gene': 'DNAJC8P1', 'score': 0.34}]
chr14 GH14I035391 35391000 35391401 1.49 [{'connected_gene': 'NFKBIA', 'score': 14.86}, {'connected_gene': 'RALGAPA1', 'score': 3.79}, {'connected_gene': 'PPP2R3C', 'score': 2.5}, {'connected_gene': 'FAM177A1', 'score': 2.11}, {'connected_gene': 'PSMA6', 'score': 1.68}, {'connected_gene': 'SRP54', 'score': 1.13}, {'connected_gene': 'RPLP0P3', 'score': 0.77}]
chr14 GH14I035395 35395990 35396124 0.24 [{'connected_gene': 'NFKBIA', 'score': 6.44}, {'connected_gene': 'RALGAPA1', 'score': 1.43}, {'connected_gene': 'RPLP0P3', 'score': 0.44}]
chr14 GH14I035298 35298399 35298638 0.52 [{'connected_gene': 'NFKBIA', 'score': 20.52}, {'connected_gene': 'BAZ1A', 'score': 17.2}, {'connected_gene': 'PSMA6', 'score': 9.64}, {'connected_gene': 'FAM177A1', 'score': 8.12}, {'connected_gene': 'PPP2R3C', 'score': 1.94}, {'connected_gene': 'SRP54', 'score': 1.62}, {'connected_gene': 'GC14P035293', 'score': 0.44}, {'connected_gene': 'GC14P035292', 'score': 0.44}, {'connected_gene': 'GC14P035312', 'score': 0.39}, {'connected_gene': 'ENSG00000258790', 'score': 0.1}]
chr14 GH14I035284 35284205 35289335 1.52 [{'connected_gene': 'NFKBIA', 'score': 38.85}, {'connected_gene': 'BAZ1A', 'score': 22.76}, {'connected_gene': 'PSMA6', 'score': 20.92}, {'connected_gene': 'FAM177A1', 'score': 12.16}, {'connected_gene': 'PPP2R3C', 'score': 9.67}, {'connected_gene': 'SRP54', 'score': 5.71}, {'connected_gene': 'GC14P035293', 'score': 0.44}, {'connected_gene': 'GC14P035292', 'score': 0.44}, {'connected_gene': 'ENSG00000258790', 'score': 0.1}]
chr14 GH14I035422 35422109 35422800 1.05 [{'connected_gene': 'DNAJC8P1', 'score': 0.44}, {'connected_gene': 'NFKBIA', 'score': 0.37}]
chr14 GH14I035393 35393503 35394614 0.43 [{'connected_gene': 'FAM177A1', 'score': 8.74}, {'connected_gene': 'RPS19P3', 'score': 4.35}, {'connected_gene': 'RPLP0P3', 'score': 0.77}, {'connected_gene': 'NFKBIA', 'score': 0.39}]
chr14 GH14I035203 35203230 35206331 1.04 [{'connected_gene': 'FAM177A1', 'score': 9.04}, {'connected_gene': 'NFKBIA', 'score': 1.21}, {'connected_gene': 'MRPL57P8', 'score': 0.39}, {'connected_gene': 'SEPT7P1', 'score': 0.25}, {'connected_gene': 'KIAA0391', 'score': 0.18}, {'connected_gene': 'ENSG00000258790', 'score': 0.18}]
chr14 GH14I035359 35359723 35359978 0.65 [{'connected_gene': 'FAM177A1', 'score': 8.36}, {'connected_gene': 'NFKBIA', 'score': 6.16}, {'connected_gene': 'BAZ1A', 'score': 3.62}, {'connected_gene': 'PSMA6', 'score': 1.68}, {'connected_gene': 'RALGAPA1', 'score': 1.47}, {'connected_gene': 'ENSG00000258860', 'score': 0.77}, {'connected_gene': 'GC14P035335', 'score': 0.34}]
chr14 GH14I034929 34929963 34931984 1.03 [{'connected_gene': 'FAM177A1', 'score': 10.91}, {'connected_gene': 'CFL2', 'score': 10.39}, {'connected_gene': 'RPS19P3', 'score': 10.06}, {'connected_gene': 'PPP2R3C', 'score': 8.06}, {'connected_gene': 'BAZ1A', 'score': 4.64}, {'connected_gene': 'EAPP', 'score': 4.25}, {'connected_gene': 'KIAA0391', 'score': 2.87}, {'connected_gene': 'NFKBIA', 'score': 1.75}, {'connected_gene': 'GC14M034933', 'score': 0.77}, {'connected_gene': 'ENSG00000258493', 'score': 0.39}, {'connected_gene': 'SRP54-AS1', 'score': 0.23}]
chr14 GH14I035355 35355028 35357829 1.59 [{'connected_gene': 'RALGAPA1', 'score': 17.42}, {'connected_gene': 'NFKBIA', 'score': 13.23}, {'connected_gene': 'ENSG00000258938', 'score': 11.83}, {'connected_gene': 'BAZ1A', 'score': 11.45}, {'connected_gene': 'FAM177A1', 'score': 10.12}, {'connected_gene': 'PSMA6', 'score': 3.06}, {'connected_gene': 'PPP2R3C', 'score': 2.56}, {'connected_gene': 'SRP54', 'score': 1.79}, {'connected_gene': 'ENSG00000258860', 'score': 0.44}, {'connected_gene': 'GC14P035335', 'score': 0.34}]
chr14 GH14I035807 35807145 35809988 2.45 [{'connected_gene': 'RALGAPA1', 'score': 592.23}, {'connected_gene': 'NFKBIA', 'score': 1.82}, {'connected_gene': 'QRSL1P3', 'score': 0.26}]
chr14 GH14I035392 35392704 35393446 0.31 [{'connected_gene': 'RPLP0P3', 'score': 0.77}, {'connected_gene': 'NFKBIA', 'score': 0.39}]
chr14 GH14I035420 35420175 35420344 0.38 [{'connected_gene': 'CFL2', 'score': 10.31}, {'connected_gene': 'RNU1-27P', 'score': 9.85}, {'connected_gene': 'EAPP', 'score': 9.84}, {'connected_gene': 'DNAJC8P1', 'score': 0.44}, {'connected_gene': 'NFKBIA', 'score': 0.37}]
chr14 GH14I035415 35414994 35418895 1.49 [{'connected_gene': 'CFL2', 'score': 10.31}, {'connected_gene': 'RNU1-27P', 'score': 9.85}, {'connected_gene': 'EAPP', 'score': 9.84}, {'connected_gene': 'SRP54-AS1', 'score': 4.83}, {'connected_gene': 'INSM2', 'score': 4.22}, {'connected_gene': 'RALGAPA1', 'score': 4.19}, {'connected_gene': 'NFKBIA', 'score': 2.88}, {'connected_gene': 'FAM177A1', 'score': 1.76}, {'connected_gene': 'BRMS1L', 'score': 1.21}, {'connected_gene': 'PPP2R3C', 'score': 1.17}, {'connected_gene': 'DNAJC8P1', 'score': 0.39}]
chr14 GH14I035414 35414600 35414801 0.77 [{'connected_gene': 'CFL2', 'score': 10.31}, {'connected_gene': 'RNU1-27P', 'score': 9.85}, {'connected_gene': 'EAPP', 'score': 9.85}, {'connected_gene': 'SRP54-AS1', 'score': 4.18}, {'connected_gene': 'NFKBIA', 'score': 0.44}, {'connected_gene': 'DNAJC8P1', 'score': 0.37}]
chr14 GH14I035330 35330774 35343106 1.79 [{'connected_gene': 'GC14P035335', 'score': 550.77}, {'connected_gene': 'PSMA6', 'score': 52.13}, {'connected_gene': 'NFKBIA', 'score': 32.66}, {'connected_gene': 'PPP2R3C', 'score': 20.48}, {'connected_gene': 'BAZ1A', 'score': 15.31}, {'connected_gene': 'FAM177A1', 'score': 10.74}, {'connected_gene': 'SPTSSA', 'score': 4.9}, {'connected_gene': 'KIAA0391', 'score': 4.89}, {'connected_gene': 'RALGAPA1', 'score': 3.97}, {'connected_gene': 'SRP54', 'score': 1.22}, {'connected_gene': 'ENSG00000258860', 'score': 0.31}]

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