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
ENST00000264703 [[27714749, 27715345], [27715532, 27715657], [27716255, 27716345], [27716796, 27717001], [27717217, 27717333], [27717413, 27717570], [27717744, 27718112]] [[27715309, 27715345], [27715532, 27715657], [27716255, 27716345], [27716796, 27717001], [27717217, 27717333], [27717413, 27717546]]
ENST00000491414 [[27714767, 27715345], [27716255, 27716345], [27716796, 27717333], [27717413, 27717570], [27717744, 27718029]] None
ENST00000476197 [[27715579, 27715657], [27716255, 27716345], [27716796, 27717001], [27717217, 27717333], [27717413, 27717679]] None
NM_022823 [[27714749, 27715345], [27715532, 27715657], [27716255, 27716345], [27716796, 27717001], [27717217, 27717333], [27717413, 27717570], [27717744, 27718126]] [[27715309, 27715345], [27715532, 27715657], [27716255, 27716345], [27716796, 27717001], [27717217, 27717333], [27717413, 27717546]]
Promoter
Chrom Start End Description
chr2 27717659 27717670 CAGE_peak_4_at_FNDC4_5end
chr2 27718052 27718127 CAGE_peak_1_at_FNDC4_5end
chr2 27718134 27718144 CAGE_peak_2_at_FNDC4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I027794 27794940 27801566 1.64 [{'connected_gene': 'MRPL33', 'score': 15.8}, {'connected_gene': 'FNDC4', 'score': 11.05}, {'connected_gene': 'PLB1', 'score': 10.9}, {'connected_gene': 'LOC102723530', 'score': 10.9}, {'connected_gene': 'SNRPGP7', 'score': 10.9}, {'connected_gene': 'SNX17', 'score': 8.65}, {'connected_gene': 'RBKS', 'score': 5.9}, {'connected_gene': 'ATRAID', 'score': 4.25}, {'connected_gene': 'GC02P027841', 'score': 0.26}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027770 27770865 27774256 2.28 [{'connected_gene': 'MRPL33', 'score': 550.77}, {'connected_gene': 'FNDC4', 'score': 9.32}, {'connected_gene': 'GC02P027841', 'score': 0.2}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027734 27734974 27739232 1.62 [{'connected_gene': 'MRPL33', 'score': 11.95}, {'connected_gene': 'LINC01460', 'score': 11.85}, {'connected_gene': 'LOC102723530', 'score': 11.66}, {'connected_gene': 'SNRPGP7', 'score': 11.65}, {'connected_gene': 'PLB1', 'score': 11.65}, {'connected_gene': 'FLJ31356', 'score': 11.36}, {'connected_gene': 'FOSL2', 'score': 11.36}, {'connected_gene': 'FNDC4', 'score': 7.74}, {'connected_gene': 'RBKS', 'score': 2.14}, {'connected_gene': 'LOC105374378', 'score': 0.34}, {'connected_gene': 'GC02M027478', 'score': 0.04}]
chr2 GH02I027595 27595583 27595642 0.73 [{'connected_gene': 'ZNF512', 'score': 550.39}, {'connected_gene': 'CCDC121', 'score': 10.62}, {'connected_gene': 'GPN1', 'score': 10.62}, {'connected_gene': 'GCKR', 'score': 10.2}, {'connected_gene': 'FNDC4', 'score': 10.19}, {'connected_gene': 'IFT172', 'score': 9.87}, {'connected_gene': 'ENSG00000259080', 'score': 0.39}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2 GH02I027703 27703314 27707399 1.39 [{'connected_gene': 'CCDC121', 'score': 10.04}, {'connected_gene': 'GPN1', 'score': 10.04}, {'connected_gene': 'FNDC4', 'score': 6.45}, {'connected_gene': 'OST4', 'score': 4.24}, {'connected_gene': 'LINC01460', 'score': 0.39}, {'connected_gene': 'LOC105374378', 'score': 0.39}, {'connected_gene': 'SUPT7L', 'score': 0.26}, {'connected_gene': 'GC02M027478', 'score': 0.04}]
chr2 GH02I027778 27778677 27780993 0.83 [{'connected_gene': 'FNDC4', 'score': 9.04}, {'connected_gene': 'SNX17', 'score': 6.41}, {'connected_gene': 'MRPL33', 'score': 0.44}, {'connected_gene': 'GC02P027841', 'score': 0.21}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027493 27493295 27495684 1.84 [{'connected_gene': 'FNDC4', 'score': 550.77}, {'connected_gene': 'SNX17', 'score': 39.38}, {'connected_gene': 'ENSG00000270210', 'score': 4.66}, {'connected_gene': 'IFT172', 'score': 0.77}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2 GH02I027929 27929059 27933392 0.72 [{'connected_gene': 'FNDC4', 'score': 6.12}, {'connected_gene': 'SNX17', 'score': 5.96}, {'connected_gene': 'LOC105374369', 'score': 0.39}, {'connected_gene': 'LOC100420770', 'score': 0.29}, {'connected_gene': 'BABAM2', 'score': 0.26}, {'connected_gene': 'MRPL33', 'score': 0.1}, {'connected_gene': 'GC02M027478', 'score': 0.07}]
chr2 GH02I027726 27726995 27731561 1.19 [{'connected_gene': 'FNDC4', 'score': 6.13}, {'connected_gene': 'SNX17', 'score': 5.67}, {'connected_gene': 'LINC01460', 'score': 0.39}, {'connected_gene': 'LOC105374378', 'score': 0.39}, {'connected_gene': 'MRPL33', 'score': 0.26}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027808 27808470 27811381 0.99 [{'connected_gene': 'FNDC4', 'score': 10.9}, {'connected_gene': 'GC02P027841', 'score': 0.29}, {'connected_gene': 'MRPL33', 'score': 0.28}, {'connected_gene': 'RBKS', 'score': 0.18}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027761 27761050 27764213 1.1 [{'connected_gene': 'FNDC4', 'score': 7.99}, {'connected_gene': 'MRPL33', 'score': 0.44}, {'connected_gene': 'LINC01460', 'score': 0.25}, {'connected_gene': 'LOC105374378', 'score': 0.25}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027776 27776945 27777415 0.2 [{'connected_gene': 'FNDC4', 'score': 8.05}, {'connected_gene': 'MRPL33', 'score': 0.44}, {'connected_gene': 'GC02P027841', 'score': 0.21}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027831 27831220 27833253 0.69 [{'connected_gene': 'FNDC4', 'score': 9.13}, {'connected_gene': 'GC02P027841', 'score': 0.44}, {'connected_gene': 'RBKS', 'score': 0.22}, {'connected_gene': 'MRPL33', 'score': 0.21}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027751 27751237 27754799 1.39 [{'connected_gene': 'FNDC4', 'score': 8.23}, {'connected_gene': 'TRIM54', 'score': 4.3}, {'connected_gene': 'MRPL33', 'score': 0.37}, {'connected_gene': 'LINC01460', 'score': 0.28}, {'connected_gene': 'LOC105374378', 'score': 0.28}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027855 27855113 27858339 0.62 [{'connected_gene': 'FNDC4', 'score': 10.44}, {'connected_gene': 'KHK', 'score': 4.29}, {'connected_gene': 'GC02P027841', 'score': 0.39}, {'connected_gene': 'RBKS', 'score': 0.29}, {'connected_gene': 'BABAM2', 'score': 0.29}, {'connected_gene': 'MRPL33', 'score': 0.17}, {'connected_gene': 'GC02M027478', 'score': 0.06}]
chr2 GH02I027565 27565718 27568047 0.31 [{'connected_gene': 'FNDC4', 'score': 18.14}, {'connected_gene': 'IFT172', 'score': 10.61}, {'connected_gene': 'GCKR', 'score': 10.6}, {'connected_gene': 'CCDC121', 'score': 10.54}, {'connected_gene': 'GPN1', 'score': 10.54}, {'connected_gene': 'KRTCAP3', 'score': 10.31}, {'connected_gene': 'NRBP1', 'score': 10.3}, {'connected_gene': 'RNU6-986P', 'score': 9.39}, {'connected_gene': 'CGREF1', 'score': 4.14}, {'connected_gene': 'LOC100420668', 'score': 0.77}, {'connected_gene': 'C2orf16', 'score': 0.31}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2 GH02I027461 27461234 27461383 0.59 [{'connected_gene': 'FNDC4', 'score': 10.82}, {'connected_gene': 'GCKR', 'score': 10.8}, {'connected_gene': 'IFT172', 'score': 10.63}, {'connected_gene': 'SUPT7L', 'score': 9.75}, {'connected_gene': 'SLC4A1AP', 'score': 9.75}, {'connected_gene': 'ENSG00000235267', 'score': 0.44}, {'connected_gene': 'GC02M027477', 'score': 0.39}, {'connected_gene': 'RNU6-986P', 'score': 0.39}]
chr2 GH02I027765 27765336 27766878 1.15 [{'connected_gene': 'FNDC4', 'score': 9.73}, {'connected_gene': 'LOC105374363', 'score': 4.57}, {'connected_gene': 'MRPL33', 'score': 0.44}, {'connected_gene': 'LINC01460', 'score': 0.25}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027988 27988309 27990563 0.76 [{'connected_gene': 'FNDC4', 'score': 9.12}, {'connected_gene': 'LOC105374363', 'score': 4.23}, {'connected_gene': 'GC02M027983', 'score': 0.77}, {'connected_gene': 'MIR4263', 'score': 0.44}, {'connected_gene': 'BABAM2', 'score': 0.15}, {'connected_gene': 'GC02M027478', 'score': 0.1}]
chr2 GH02I027965 27965736 27966383 0.58 [{'connected_gene': 'FNDC4', 'score': 9.14}, {'connected_gene': 'GC02M027983', 'score': 0.37}, {'connected_gene': 'LOC100422227', 'score': 0.37}, {'connected_gene': 'BABAM2', 'score': 0.18}, {'connected_gene': 'MRPL33', 'score': 0.08}, {'connected_gene': 'GC02M027478', 'score': 0.08}]
chr2 GH02I027972 27972936 27975089 0.31 [{'connected_gene': 'FNDC4', 'score': 6.06}, {'connected_gene': 'GC02M027983', 'score': 0.39}, {'connected_gene': 'LOC100422227', 'score': 0.34}, {'connected_gene': 'BABAM2', 'score': 0.18}, {'connected_gene': 'GC02M027478', 'score': 0.08}, {'connected_gene': 'MRPL33', 'score': 0.08}]
chr2 GH02I027727 27726200 27726665 0.2 [{'connected_gene': 'FNDC4', 'score': 6.17}, {'connected_gene': 'LINC01460', 'score': 0.44}, {'connected_gene': 'LOC105374378', 'score': 0.39}, {'connected_gene': 'MRPL33', 'score': 0.25}, {'connected_gene': 'GC02M027478', 'score': 0.04}]
chr2 GH02I027707 27707439 27711429 0.69 [{'connected_gene': 'FNDC4', 'score': 7.0}, {'connected_gene': 'OST4', 'score': 4.24}, {'connected_gene': 'LINC01460', 'score': 0.44}, {'connected_gene': 'LOC105374378', 'score': 0.44}, {'connected_gene': 'SUPT7L', 'score': 0.25}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027884 27884926 27892403 2.5 [{'connected_gene': 'RBKS', 'score': 550.77}, {'connected_gene': 'BABAM2', 'score': 550.77}, {'connected_gene': 'TRMT61B', 'score': 10.11}, {'connected_gene': 'KRTCAP3', 'score': 5.24}, {'connected_gene': 'FNDC4', 'score': 5.23}, {'connected_gene': 'SLC4A1AP', 'score': 4.45}, {'connected_gene': 'BRE-AS1', 'score': 0.77}, {'connected_gene': 'GC02P027841', 'score': 0.25}, {'connected_gene': 'MRPL33', 'score': 0.13}, {'connected_gene': 'GC02M027478', 'score': 0.06}]
chr2 GH02I027427 27427416 27432200 2.06 [{'connected_gene': 'NRBP1', 'score': 550.77}, {'connected_gene': 'GC02M027429', 'score': 550.77}, {'connected_gene': 'SNX17', 'score': 49.98}, {'connected_gene': 'ZNF513', 'score': 10.83}, {'connected_gene': 'GCKR', 'score': 10.59}, {'connected_gene': 'FNDC4', 'score': 10.59}, {'connected_gene': 'IFT172', 'score': 10.45}, {'connected_gene': 'RNU6-986P', 'score': 10.32}, {'connected_gene': 'CCDC121', 'score': 10.04}, {'connected_gene': 'GPN1', 'score': 10.04}]
chr2 GH02I027915 27915889 27917479 0.84 [{'connected_gene': 'GTF3C2', 'score': 20.49}, {'connected_gene': 'CAD', 'score': 15.61}, {'connected_gene': 'SNX17', 'score': 14.36}, {'connected_gene': 'LOC105374363', 'score': 14.34}, {'connected_gene': 'NRBP1', 'score': 13.61}, {'connected_gene': 'TMEM214', 'score': 13.02}, {'connected_gene': 'GPN1', 'score': 12.46}, {'connected_gene': 'EIF2B4', 'score': 12.04}, {'connected_gene': 'GTF3C2-AS1', 'score': 10.64}, {'connected_gene': 'WDR43', 'score': 9.8}, {'connected_gene': 'FNDC4', 'score': 5.26}, {'connected_gene': 'LOC100420770', 'score': 0.37}, {'connected_gene': 'LOC105374369', 'score': 0.31}, {'connected_gene': 'BABAM2', 'score': 0.31}, {'connected_gene': 'MRPL33', 'score': 0.11}, {'connected_gene': 'GC02M027478', 'score': 0.07}]
chr2 GH02I027901 27901225 27901607 0.46 [{'connected_gene': 'FOSL2', 'score': 15.97}, {'connected_gene': 'FNDC4', 'score': 9.18}, {'connected_gene': 'RBKS', 'score': 6.73}, {'connected_gene': 'LOC100420770', 'score': 0.77}, {'connected_gene': 'BABAM2', 'score': 0.39}, {'connected_gene': 'LOC105374369', 'score': 0.26}, {'connected_gene': 'MRPL33', 'score': 0.13}, {'connected_gene': 'GC02M027478', 'score': 0.06}]
chr2 GH02I027919 27919683 27923043 1.2 [{'connected_gene': 'FOSL2', 'score': 19.79}, {'connected_gene': 'RBKS', 'score': 11.01}, {'connected_gene': 'SNX17', 'score': 7.37}, {'connected_gene': 'FNDC4', 'score': 6.12}, {'connected_gene': 'BABAM2', 'score': 2.31}, {'connected_gene': 'LOC100420770', 'score': 0.34}, {'connected_gene': 'LOC105374369', 'score': 0.34}, {'connected_gene': 'MRPL33', 'score': 0.11}, {'connected_gene': 'GC02M027478', 'score': 0.07}]
chr2 GH02I027953 27953002 27961463 1.59 [{'connected_gene': 'FOSL2', 'score': 32.84}, {'connected_gene': 'RBKS', 'score': 12.19}, {'connected_gene': 'FLJ31356', 'score': 11.37}, {'connected_gene': 'FNDC4', 'score': 9.12}, {'connected_gene': 'C2orf16', 'score': 5.89}, {'connected_gene': 'CGREF1', 'score': 4.07}, {'connected_gene': 'LINC01460', 'score': 4.0}, {'connected_gene': 'BABAM2', 'score': 1.36}, {'connected_gene': 'GCKR', 'score': 1.14}, {'connected_gene': 'LOC100422227', 'score': 0.44}, {'connected_gene': 'GC02M027983', 'score': 0.31}, {'connected_gene': 'MRPL33', 'score': 0.09}, {'connected_gene': 'GC02M027478', 'score': 0.08}]
chr2 GH02I027626 27626253 27630048 2.26 [{'connected_gene': 'GPN1', 'score': 572.56}, {'connected_gene': 'CCDC121', 'score': 550.77}, {'connected_gene': 'SNX17', 'score': 25.28}, {'connected_gene': 'CAD', 'score': 18.86}, {'connected_gene': 'GTF3C2', 'score': 17.42}, {'connected_gene': 'GTF3C2-AS1', 'score': 14.62}, {'connected_gene': 'NRBP1', 'score': 14.46}, {'connected_gene': 'EIF2B4', 'score': 14.37}, {'connected_gene': 'ZNF513', 'score': 12.84}, {'connected_gene': 'PPM1G', 'score': 11.81}, {'connected_gene': 'LOC105374363', 'score': 11.25}, {'connected_gene': 'TMEM214', 'score': 9.7}, {'connected_gene': 'FNDC4', 'score': 6.11}, {'connected_gene': 'MAPRE3', 'score': 4.15}, {'connected_gene': 'ENSG00000259080', 'score': 0.25}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2 GH02I027496 27496457 27497417 1.41 [{'connected_gene': 'GCKR', 'score': 550.77}, {'connected_gene': 'FNDC4', 'score': 550.77}, {'connected_gene': 'GC02P027503', 'score': 0.44}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2 GH02I027711 27711593 27713765 0.43 [{'connected_gene': 'LOC102723530', 'score': 9.93}, {'connected_gene': 'SNRPGP7', 'score': 9.93}, {'connected_gene': 'PLB1', 'score': 9.93}, {'connected_gene': 'FLJ31356', 'score': 9.88}, {'connected_gene': 'FOSL2', 'score': 9.88}, {'connected_gene': 'SNX17', 'score': 9.16}, {'connected_gene': 'CCDC121', 'score': 9.09}, {'connected_gene': 'GPN1', 'score': 9.09}, {'connected_gene': 'ZNF512', 'score': 9.04}, {'connected_gene': 'RNU6-986P', 'score': 8.57}, {'connected_gene': 'FNDC4', 'score': 7.33}, {'connected_gene': 'LINC01460', 'score': 0.77}, {'connected_gene': 'LOC105374378', 'score': 0.77}, {'connected_gene': 'SUPT7L', 'score': 0.25}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027801 27801946 27802023 0.49 [{'connected_gene': 'SNRPGP7', 'score': 10.9}, {'connected_gene': 'PLB1', 'score': 10.9}, {'connected_gene': 'LOC102723530', 'score': 10.9}, {'connected_gene': 'FNDC4', 'score': 9.89}, {'connected_gene': 'MRPL33', 'score': 5.9}, {'connected_gene': 'CCDC121', 'score': 2.87}, {'connected_gene': 'IFT172', 'score': 2.6}, {'connected_gene': 'ZNF512', 'score': 1.86}, {'connected_gene': 'SLC4A1AP', 'score': 1.85}, {'connected_gene': 'SUPT7L', 'score': 1.64}, {'connected_gene': 'GPN1', 'score': 1.23}, {'connected_gene': 'GC02P027841', 'score': 0.28}, {'connected_gene': 'RBKS', 'score': 0.17}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027950 27950301 27951416 0.38 [{'connected_gene': 'LOC100422227', 'score': 550.77}, {'connected_gene': 'FNDC4', 'score': 4.16}, {'connected_gene': 'GC02M027983', 'score': 0.29}, {'connected_gene': 'BABAM2', 'score': 0.21}, {'connected_gene': 'MRPL33', 'score': 0.1}, {'connected_gene': 'GC02M027478', 'score': 0.08}]
chr2 GH02I027714 27714523 27717823 1.79 [{'connected_gene': 'LINC01460', 'score': 550.77}, {'connected_gene': 'LOC105374378', 'score': 550.77}, {'connected_gene': 'SNX17', 'score': 12.22}, {'connected_gene': 'FNDC4', 'score': 8.47}, {'connected_gene': 'KRTCAP3', 'score': 6.99}, {'connected_gene': 'OST4', 'score': 5.32}, {'connected_gene': 'TRIM54', 'score': 3.73}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027574 27573574 27573723 0.31 [{'connected_gene': 'PIR34412', 'score': 550.77}, {'connected_gene': 'SNX17', 'score': 13.6}, {'connected_gene': 'IFT172', 'score': 10.2}, {'connected_gene': 'GCKR', 'score': 9.7}, {'connected_gene': 'FNDC4', 'score': 9.7}, {'connected_gene': 'ENSG00000206731', 'score': 9.38}, {'connected_gene': 'LOC100420668', 'score': 0.77}, {'connected_gene': 'C2orf16', 'score': 0.28}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2 GH02I027573 27573214 27573363 0.31 [{'connected_gene': 'PIR34412', 'score': 550.77}, {'connected_gene': 'IFT172', 'score': 10.2}, {'connected_gene': 'GCKR', 'score': 9.7}, {'connected_gene': 'FNDC4', 'score': 9.7}, {'connected_gene': 'ENSG00000206731', 'score': 9.38}, {'connected_gene': 'GPN1', 'score': 4.79}, {'connected_gene': 'LOC100420668', 'score': 0.77}, {'connected_gene': 'C2orf16', 'score': 0.28}, {'connected_gene': 'GC02M027478', 'score': 0.03}]