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
ENST00000378203 [[15139178, 15139408], [15144216, 15144335], [15145303, 15146250]] [[15145313, 15146165]]
ENST00000378201 [[15139213, 15139408], [15144216, 15144335], [15145303, 15145712], [15146435, 15146454], [15148038, 15148129]] [[15145313, 15145712], [15146435, 15146454], [15148038, 15148058]]
ENST00000451677 [[15139235, 15139397], [15153684, 15153785], [15181757, 15181817]] None
ENST00000378202 [[15139329, 15139408], [15145303, 15146254]] [[15145313, 15146165]]
ENST00000378197 [[15139380, 15139765], [15144216, 15144335], [15145303, 15146256]] [[15145313, 15146165]]
ENST00000441850 [[15139418, 15139765], [15145303, 15145819]] [[15145313, 15145819]]
NM_006414 [[15139178, 15139408], [15145303, 15146256]] [[15145313, 15146165]]
NM_001097590 [[15139178, 15139408], [15144216, 15144335], [15145303, 15146256]] [[15145313, 15146165]]
NM_001265601 [[15139178, 15139765], [15145303, 15146256]] [[15145313, 15146165]]
NM_183005 [[15139178, 15139765], [15144216, 15144335], [15145303, 15146256]] [[15145313, 15146165]]
Promoter
Chrom Start End Description
chr10 15139071 15139106 CAGE_peak_6_at_RPP38_5end
chr10 15139176 15139202 CAGE_peak_2_at_RPP38_5end
chr10 15139337 15139391 CAGE_peak_1_at_RPP38_5end
chr10 15139394 15139404 CAGE_peak_4_at_RPP38_5end
chr10 15139722 15139741 CAGE_peak_11_at_RPP38_5end
chr10 15139747 15139782 CAGE_peak_5_at_RPP38_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I015199 15199249 15203587 1.2 [{'connected_gene': 'NMT2', 'score': 12.73}, {'connected_gene': 'RPP38', 'score': 10.14}, {'connected_gene': 'C10orf111', 'score': 10.14}, {'connected_gene': 'GAPDHP45', 'score': 10.13}, {'connected_gene': 'FAM171A1', 'score': 6.69}, {'connected_gene': 'LOC105376434', 'score': 0.44}, {'connected_gene': 'LOC105376433', 'score': 0.44}, {'connected_gene': 'ENSG00000228181', 'score': 0.29}]
chr10 GH10I015718 15718295 15720311 1.83 [{'connected_gene': 'ITGA8', 'score': 550.77}, {'connected_gene': 'HSPA14', 'score': 11.73}, {'connected_gene': 'RPP38', 'score': 11.08}, {'connected_gene': 'GC10P015618', 'score': 0.15}]
chr10 GH10I014647 14647074 14650208 1.54 [{'connected_gene': 'FAM107B', 'score': 33.67}, {'connected_gene': 'C10orf111', 'score': 13.44}, {'connected_gene': 'HSPA14', 'score': 2.23}, {'connected_gene': 'CDNF', 'score': 1.74}, {'connected_gene': 'DCLRE1C', 'score': 1.28}, {'connected_gene': 'RPP38', 'score': 1.27}, {'connected_gene': 'LOC105376429', 'score': 0.77}, {'connected_gene': 'GC10M014524', 'score': 0.13}]
chr10 GH10I014184 14184413 14186761 1.23 [{'connected_gene': 'DCLRE1C', 'score': 41.31}, {'connected_gene': 'PRPF18', 'score': 35.8}, {'connected_gene': 'ENSG00000239665', 'score': 32.31}, {'connected_gene': 'ENSG00000273474', 'score': 31.22}, {'connected_gene': 'HSPA14', 'score': 23.28}, {'connected_gene': 'SEPHS1', 'score': 22.77}, {'connected_gene': 'RPP38', 'score': 20.46}, {'connected_gene': 'GC10P014189', 'score': 0.77}, {'connected_gene': 'LOC101928453', 'score': 0.14}, {'connected_gene': 'FRMD4A', 'score': 0.06}]
chr10 GH10I014950 14950502 14955375 2.09 [{'connected_gene': 'DCLRE1C', 'score': 576.17}, {'connected_gene': 'MEIG1', 'score': 550.77}, {'connected_gene': 'RPP38', 'score': 10.25}, {'connected_gene': 'GC10M014933', 'score': 0.44}, {'connected_gene': 'GC10P014933', 'score': 0.37}]
chr10 GH10I015434 15434201 15434800 0.98 [{'connected_gene': 'DCLRE1C', 'score': 75.48}, {'connected_gene': 'RPP38', 'score': 37.62}, {'connected_gene': 'HSPA14', 'score': 23.45}, {'connected_gene': 'MINDY3', 'score': 12.15}, {'connected_gene': 'FAM171A1', 'score': 7.34}, {'connected_gene': 'GC10P015448', 'score': 0.39}]
chr10 GH10I015043 15043901 15043960 0.82 [{'connected_gene': 'OLAH', 'score': 550.39}, {'connected_gene': 'DCLRE1CP1', 'score': 11.05}, {'connected_gene': 'ACBD7', 'score': 11.0}, {'connected_gene': 'GAPDHP45', 'score': 10.98}, {'connected_gene': 'RPP38', 'score': 10.75}, {'connected_gene': 'C10orf111', 'score': 10.75}]
chr10 GH10I014522 14522517 14524040 0.31 [{'connected_gene': 'HSPA14', 'score': 10.49}, {'connected_gene': 'CDNF', 'score': 10.49}, {'connected_gene': 'DCLRE1CP1', 'score': 9.35}, {'connected_gene': 'GAPDHP45', 'score': 9.35}, {'connected_gene': 'ACBD7', 'score': 9.34}, {'connected_gene': 'RPP38', 'score': 9.24}, {'connected_gene': 'C10orf111', 'score': 9.24}, {'connected_gene': 'GC10M014524', 'score': 0.77}, {'connected_gene': 'FRMD4A', 'score': 0.21}, {'connected_gene': 'FAM107B', 'score': 0.07}]
chr10 GH10I014889 14889502 14889651 0.8 [{'connected_gene': 'HSPA14', 'score': 11.11}, {'connected_gene': 'CDNF', 'score': 11.11}, {'connected_gene': 'GAPDHP45', 'score': 10.32}, {'connected_gene': 'RPP38', 'score': 10.25}, {'connected_gene': 'C10orf111', 'score': 10.25}, {'connected_gene': 'PIR33358', 'score': 0.44}, {'connected_gene': 'SUV39H2', 'score': 0.39}, {'connected_gene': 'GC10M014904', 'score': 0.37}]
chr10 GH10I014519 14519774 14521652 0.31 [{'connected_gene': 'CDNF', 'score': 10.49}, {'connected_gene': 'HSPA14', 'score': 10.49}, {'connected_gene': 'DCLRE1CP1', 'score': 9.92}, {'connected_gene': 'GAPDHP45', 'score': 9.92}, {'connected_gene': 'ACBD7', 'score': 9.92}, {'connected_gene': 'RPP38', 'score': 9.24}, {'connected_gene': 'C10orf111', 'score': 9.24}, {'connected_gene': 'FAM107B', 'score': 5.78}, {'connected_gene': 'GC10M014524', 'score': 0.44}, {'connected_gene': 'FRMD4A', 'score': 0.22}]
chr10 GH10I014524 14524733 14525516 0.2 [{'connected_gene': 'CDNF', 'score': 10.49}, {'connected_gene': 'HSPA14', 'score': 10.49}, {'connected_gene': 'DCLRE1CP1', 'score': 9.35}, {'connected_gene': 'GAPDHP45', 'score': 9.34}, {'connected_gene': 'ACBD7', 'score': 9.34}, {'connected_gene': 'RPP38', 'score': 9.24}, {'connected_gene': 'C10orf111', 'score': 9.24}, {'connected_gene': 'FAM107B', 'score': 6.26}, {'connected_gene': 'GC10M014524', 'score': 0.77}, {'connected_gene': 'FRMD4A', 'score': 0.21}]
chr10 GH10I015088 15088201 15089431 1.96 [{'connected_gene': 'ACBD7', 'score': 559.72}, {'connected_gene': 'C10orf111', 'score': 12.72}, {'connected_gene': 'MINDY3', 'score': 10.84}, {'connected_gene': 'RPP38', 'score': 4.69}, {'connected_gene': 'GAPDHP45', 'score': 0.77}]
chr10 GH10I015115 15115631 15116204 0.23 [{'connected_gene': 'ACBD7', 'score': 21.18}, {'connected_gene': 'GAPDHP45', 'score': 11.49}, {'connected_gene': 'DCLRE1CP1', 'score': 11.41}, {'connected_gene': 'HSPA14', 'score': 9.46}, {'connected_gene': 'CDNF', 'score': 9.46}, {'connected_gene': 'C10orf111', 'score': 4.95}, {'connected_gene': 'GC10P015108', 'score': 0.44}, {'connected_gene': 'GC10P015124', 'score': 0.44}, {'connected_gene': 'LOC105376431', 'score': 0.39}, {'connected_gene': 'RPP38', 'score': 0.37}, {'connected_gene': 'NMT2', 'score': 0.23}]
chr10 GH10I015096 15096401 15099521 2.04 [{'connected_gene': 'RPP38', 'score': 566.07}, {'connected_gene': 'C10orf111', 'score': 562.16}, {'connected_gene': 'HSPA14', 'score': 12.57}, {'connected_gene': 'ACBD7', 'score': 9.88}, {'connected_gene': 'LOC105376431', 'score': 0.44}]
chr10 GH10I015151 15151384 15153511 0.83 [{'connected_gene': 'RPP38', 'score': 15.59}, {'connected_gene': 'C10orf111', 'score': 11.02}, {'connected_gene': 'GAPDHP45', 'score': 11.02}, {'connected_gene': 'OLAH', 'score': 10.49}, {'connected_gene': 'CDNF', 'score': 8.93}, {'connected_gene': 'HSPA14', 'score': 8.93}, {'connected_gene': 'ACBD7', 'score': 6.89}, {'connected_gene': 'PPIAP30', 'score': 0.77}, {'connected_gene': 'NMT2', 'score': 0.37}, {'connected_gene': 'GC10P015124', 'score': 0.31}]
chr10 GH10I014507 14507248 14509327 0.89 [{'connected_gene': 'RPP38', 'score': 9.7}, {'connected_gene': 'C10orf111', 'score': 9.7}, {'connected_gene': 'GAPDHP45', 'score': 9.7}, {'connected_gene': 'CDNF', 'score': 1.5}, {'connected_gene': 'HSPA14', 'score': 1.42}, {'connected_gene': 'GC10M014524', 'score': 0.37}, {'connected_gene': 'FRMD4A', 'score': 0.25}]
chr10 GH10I015137 15137835 15137920 0.64 [{'connected_gene': 'RPP38', 'score': 11.06}, {'connected_gene': 'C10orf111', 'score': 11.06}, {'connected_gene': 'GAPDHP45', 'score': 11.06}, {'connected_gene': 'ACBD7', 'score': 10.14}, {'connected_gene': 'DCLRE1CP1', 'score': 10.1}, {'connected_gene': 'GC10P015124', 'score': 0.39}, {'connected_gene': 'PPIAP30', 'score': 0.37}, {'connected_gene': 'NMT2', 'score': 0.29}, {'connected_gene': 'LOC105376431', 'score': 0.29}]
chr10 GH10I015116 15116720 15117035 0.24 [{'connected_gene': 'GAPDHP45', 'score': 11.49}, {'connected_gene': 'ACBD7', 'score': 11.46}, {'connected_gene': 'DCLRE1CP1', 'score': 11.41}, {'connected_gene': 'HSPA14', 'score': 9.46}, {'connected_gene': 'CDNF', 'score': 9.46}, {'connected_gene': 'C10orf111', 'score': 9.3}, {'connected_gene': 'GC10P015108', 'score': 0.44}, {'connected_gene': 'GC10P015124', 'score': 0.44}, {'connected_gene': 'LOC105376431', 'score': 0.39}, {'connected_gene': 'RPP38', 'score': 0.37}, {'connected_gene': 'NMT2', 'score': 0.23}]
chr10 GH10I014875 14875634 14880653 2.07 [{'connected_gene': 'ENSG00000272853', 'score': 550.77}, {'connected_gene': 'SUV39H2', 'score': 550.77}, {'connected_gene': 'DCLRE1C', 'score': 43.4}, {'connected_gene': 'RPP38', 'score': 27.69}, {'connected_gene': 'HSPA14', 'score': 21.12}, {'connected_gene': 'CDNF', 'score': 10.46}, {'connected_gene': 'LOC100421372', 'score': 0.28}]
chr10 GH10I014958 14958801 14961308 2.07 [{'connected_gene': 'GC10M014933', 'score': 550.77}, {'connected_gene': 'MEIG1', 'score': 550.44}, {'connected_gene': 'DCLRE1C', 'score': 27.48}, {'connected_gene': 'HSPA14', 'score': 22.33}, {'connected_gene': 'RPP38', 'score': 12.84}, {'connected_gene': 'SUV39H2', 'score': 10.89}, {'connected_gene': 'CDNF', 'score': 10.05}, {'connected_gene': 'OR7E110P', 'score': 0.31}]
chr10 GH10I015106 15106393 15107058 0.7 [{'connected_gene': 'GC10P015108', 'score': 550.77}, {'connected_gene': 'OLAH', 'score': 10.48}, {'connected_gene': 'C10orf111', 'score': 8.03}, {'connected_gene': 'RPP38', 'score': 6.68}, {'connected_gene': 'ACBD7', 'score': 6.23}, {'connected_gene': 'LOC105376431', 'score': 0.77}, {'connected_gene': 'NMT2', 'score': 0.21}]
chr10 GH10I014836 14836504 14839936 2.05 [{'connected_gene': 'ENSG00000284024', 'score': 550.77}, {'connected_gene': 'HSPA14', 'score': 550.77}, {'connected_gene': 'CDNF', 'score': 550.77}, {'connected_gene': 'DCLRE1C', 'score': 12.91}, {'connected_gene': 'RPP38', 'score': 10.21}]
chr10 GH10I014528 14528436 14529231 0.51 [{'connected_gene': 'GC10M014524', 'score': 550.77}, {'connected_gene': 'CDNF', 'score': 10.49}, {'connected_gene': 'HSPA14', 'score': 10.49}, {'connected_gene': 'DCLRE1CP1', 'score': 9.35}, {'connected_gene': 'ACBD7', 'score': 9.34}, {'connected_gene': 'GAPDHP45', 'score': 9.34}, {'connected_gene': 'RPP38', 'score': 9.24}, {'connected_gene': 'C10orf111', 'score': 9.24}, {'connected_gene': 'LOC105376429', 'score': 0.13}, {'connected_gene': 'FAM107B', 'score': 0.07}]
chr10 GH10I014526 14526502 14526651 0.2 [{'connected_gene': 'GC10M014524', 'score': 550.77}, {'connected_gene': 'CDNF', 'score': 10.49}, {'connected_gene': 'HSPA14', 'score': 10.49}, {'connected_gene': 'DCLRE1CP1', 'score': 9.35}, {'connected_gene': 'GAPDHP45', 'score': 9.34}, {'connected_gene': 'ACBD7', 'score': 9.34}, {'connected_gene': 'RPP38', 'score': 9.24}, {'connected_gene': 'C10orf111', 'score': 9.24}, {'connected_gene': 'FRMD4A', 'score': 0.21}, {'connected_gene': 'FAM107B', 'score': 0.07}]
chr10 GH10I014527 14527033 14527823 0.4 [{'connected_gene': 'GC10M014524', 'score': 550.77}, {'connected_gene': 'CDNF', 'score': 10.49}, {'connected_gene': 'HSPA14', 'score': 10.49}, {'connected_gene': 'DCLRE1CP1', 'score': 9.35}, {'connected_gene': 'GAPDHP45', 'score': 9.34}, {'connected_gene': 'ACBD7', 'score': 9.34}, {'connected_gene': 'RPP38', 'score': 9.24}, {'connected_gene': 'C10orf111', 'score': 9.24}, {'connected_gene': 'FRMD4A', 'score': 0.2}, {'connected_gene': 'FAM107B', 'score': 0.07}]
chr10 GH10I015122 15122923 15124651 0.97 [{'connected_gene': 'GC10P015124', 'score': 550.77}, {'connected_gene': 'ACBD7', 'score': 19.08}, {'connected_gene': 'C10orf111', 'score': 16.87}, {'connected_gene': 'RPP38', 'score': 11.7}, {'connected_gene': 'GAPDHP45', 'score': 11.68}, {'connected_gene': 'DCLRE1CP1', 'score': 11.2}, {'connected_gene': 'OLAH', 'score': 10.53}, {'connected_gene': 'GC10P015108', 'score': 0.37}, {'connected_gene': 'LOC105376431', 'score': 0.37}, {'connected_gene': 'NMT2', 'score': 0.26}]
chr10 GH10I015083 15083796 15085400 1.01 [{'connected_gene': 'PIR44298', 'score': 550.77}, {'connected_gene': 'C10orf111', 'score': 12.54}, {'connected_gene': 'DCLRE1C', 'score': 12.25}, {'connected_gene': 'ACBD7', 'score': 8.67}, {'connected_gene': 'RPP38', 'score': 5.14}, {'connected_gene': 'DCLRE1CP1', 'score': 0.39}]

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