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
ENST00000539409 [[31433517, 31435805], [31440567, 31440718], [31478957, 31479050]] [[31435645, 31435805], [31440567, 31440629]]
ENST00000337682 [[31433517, 31435805], [31440567, 31440718], [31446738, 31446865], [31448167, 31448267], [31451010, 31451158], [31478957, 31479306]] [[31435645, 31435805], [31440567, 31440718], [31446738, 31446865], [31448167, 31448267], [31451010, 31451138]]
ENST00000454658 [[31434995, 31435805], [31440567, 31440718], [31446738, 31446865], [31448167, 31448267], [31451010, 31451158], [31476877, 31477096]] [[31435645, 31435805], [31440567, 31440718], [31446738, 31446865], [31448167, 31448267], [31451010, 31451138]]
ENST00000395766 [[31435231, 31435805], [31440567, 31440718], [31446738, 31446865], [31448167, 31448267], [31451010, 31451158], [31457915, 31458057], [31478957, 31479070]] [[31435645, 31435805], [31440567, 31440629]]
ENST00000542983 [[31435621, 31435805], [31440567, 31440718], [31446738, 31446865], [31448167, 31448267], [31478957, 31479133]] [[31435645, 31435805], [31440567, 31440629]]
ENST00000539004 [[31440670, 31440718], [31446738, 31446865], [31448167, 31448267], [31451010, 31451158], [31479956, 31479992]] [[31440670, 31440718], [31446738, 31446865], [31448167, 31448267], [31451010, 31451138]]
ENST00000543615 [[31440693, 31440718], [31446738, 31446865], [31448167, 31448267], [31451010, 31451158], [31478159, 31478428]] [[31440693, 31440718], [31446738, 31446865], [31448167, 31448267], [31451010, 31451138]]
ENST00000536836 [[31456428, 31458057], [31478957, 31479062]] None
ENST00000448582 [[31433517, 31435805], [31440567, 31440718], [31446738, 31446865], [31448167, 31448267], [31451010, 31451455]] None
ENST00000544921 [[31435572, 31435805], [31440567, 31440718], [31446738, 31446865], [31448167, 31448267], [31449843, 31449978], [31451010, 31451109]] [[31449899, 31449978], [31451010, 31451109]]
Promoter
Chrom Start End Description
chr12 31477037 31477051 CAGE_peak_8_at_FAM60A_5end
chr12 31477072 31477110 CAGE_peak_4_at_FAM60A_5end
chr12 31478460 31478469 CAGE_peak_9_at_FAM60A_5end
chr12 31478807 31478835 CAGE_peak_6_at_FAM60A_5end
chr12 31478836 31478859 CAGE_peak_5_at_FAM60A_5end
chr12 31479045 31479074 CAGE_peak_2_at_FAM60A_5end
chr12 31479076 31479092 CAGE_peak_1_at_FAM60A_5end
chr12 31479107 31479142 CAGE_peak_3_at_FAM60A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I031298 31298167 31299052 0.74 [{'connected_gene': 'FLJ13224', 'score': 11.52}, {'connected_gene': 'SINHCAF', 'score': 11.52}, {'connected_gene': 'RNU5F-4P', 'score': 9.44}, {'connected_gene': 'DENND5B-AS1', 'score': 9.44}, {'connected_gene': 'DENND5B', 'score': 9.44}, {'connected_gene': 'ENSG00000256176', 'score': 0.39}, {'connected_gene': 'ENSG00000275097', 'score': 0.37}]
chr12 GH12I032104 32104369 32109322 2.05 [{'connected_gene': 'BICD1', 'score': 570.16}, {'connected_gene': 'ENSG00000257530', 'score': 550.77}, {'connected_gene': 'LOC100420981', 'score': 26.27}, {'connected_gene': 'YARS2', 'score': 11.59}, {'connected_gene': 'SINHCAF', 'score': 10.0}, {'connected_gene': 'ENSG00000277342', 'score': 0.77}]
chr12 GH12I031238 31238927 31239076 0.62 [{'connected_gene': 'SINHCAF', 'score': 10.53}, {'connected_gene': 'DDX11', 'score': 8.49}, {'connected_gene': 'DDX11-AS1', 'score': 5.27}, {'connected_gene': 'OVOS2', 'score': 0.44}, {'connected_gene': 'ENSG00000270766', 'score': 0.44}]
chr12 GH12I031361 31361829 31364247 1.27 [{'connected_gene': 'SINHCAF', 'score': 18.6}, {'connected_gene': 'RNU6-618P', 'score': 11.84}, {'connected_gene': 'FLJ13224', 'score': 11.74}, {'connected_gene': 'AK4P3', 'score': 6.61}, {'connected_gene': 'DDX11', 'score': 4.84}, {'connected_gene': 'DENND5B', 'score': 4.25}, {'connected_gene': 'ENSG00000283256', 'score': 0.77}, {'connected_gene': 'LINC02387', 'score': 0.44}, {'connected_gene': 'GC12P031343', 'score': 0.37}]
chr12 GH12I031353 31353530 31354830 0.58 [{'connected_gene': 'SINHCAF', 'score': 11.53}, {'connected_gene': 'RNU6-618P', 'score': 11.35}, {'connected_gene': 'FLJ13224', 'score': 11.22}, {'connected_gene': 'GC12P031343', 'score': 0.39}, {'connected_gene': 'ENSG00000283256', 'score': 0.39}]
chr12 GH12I031269 31269767 31269916 0.49 [{'connected_gene': 'SINHCAF', 'score': 11.21}, {'connected_gene': 'RNU6-618P', 'score': 10.7}, {'connected_gene': 'DENND5B-AS1', 'score': 9.56}, {'connected_gene': 'DENND5B', 'score': 9.56}, {'connected_gene': 'RNU5F-4P', 'score': 9.56}, {'connected_gene': 'LOC100419525', 'score': 0.44}, {'connected_gene': 'ENSG00000275097', 'score': 0.39}]
chr12 GH12I031271 31271987 31272156 0.74 [{'connected_gene': 'SINHCAF', 'score': 11.5}, {'connected_gene': 'RNU6-618P', 'score': 10.7}, {'connected_gene': 'DENND5B-AS1', 'score': 9.57}, {'connected_gene': 'DENND5B', 'score': 9.57}, {'connected_gene': 'RNU5F-4P', 'score': 9.56}, {'connected_gene': 'ENSG00000275097', 'score': 0.44}, {'connected_gene': 'LOC100419525', 'score': 0.44}]
chr12 GH12I031316 31316650 31327460 2.49 [{'connected_gene': 'SINHCAF', 'score': 573.1}, {'connected_gene': 'IPO8', 'score': 21.67}, {'connected_gene': 'FLJ13224', 'score': 19.64}, {'connected_gene': 'KIAA1551', 'score': 19.44}, {'connected_gene': 'DDX11', 'score': 16.67}, {'connected_gene': 'H3F3C', 'score': 10.74}, {'connected_gene': 'DENND5B-AS1', 'score': 9.82}, {'connected_gene': 'DENND5B', 'score': 9.82}, {'connected_gene': 'RNU5F-4P', 'score': 9.81}, {'connected_gene': 'ENSG00000256176', 'score': 0.39}]
chr12 GH12I031355 31355153 31356348 0.82 [{'connected_gene': 'SINHCAF', 'score': 11.53}, {'connected_gene': 'GC12P031343', 'score': 0.39}, {'connected_gene': 'ENSG00000283256', 'score': 0.39}]
chr12 GH12I031702 31702200 31702401 0.46 [{'connected_gene': 'KIAA1551', 'score': 21.46}, {'connected_gene': 'DDX11', 'score': 18.78}, {'connected_gene': 'SINHCAF', 'score': 14.9}, {'connected_gene': 'FLJ13224', 'score': 12.54}, {'connected_gene': 'AMN1', 'score': 11.92}, {'connected_gene': 'ENSG00000256984', 'score': 10.39}, {'connected_gene': 'GC12P031714', 'score': 0.39}, {'connected_gene': 'ETFBKMT', 'score': 0.22}]
chr12 GH12I031658 31658364 31660520 2.03 [{'connected_gene': 'ETFBKMT', 'score': 550.39}, {'connected_gene': 'KIAA1551', 'score': 21.58}, {'connected_gene': 'DDX11', 'score': 14.86}, {'connected_gene': 'SINHCAF', 'score': 13.6}, {'connected_gene': 'FLJ13224', 'score': 13.47}, {'connected_gene': 'IPO8', 'score': 10.06}, {'connected_gene': 'AK4P3', 'score': 5.81}, {'connected_gene': 'DSPA2D', 'score': 4.88}, {'connected_gene': 'GC12P031714', 'score': 0.23}]
chr12 GH12I031315 31315049 31316209 0.72 [{'connected_gene': 'ETFBKMT', 'score': 9.7}, {'connected_gene': 'DENND5B', 'score': 9.3}, {'connected_gene': 'RNU5F-4P', 'score': 9.3}, {'connected_gene': 'DENND5B-AS1', 'score': 9.3}, {'connected_gene': 'ENSG00000256176', 'score': 0.77}, {'connected_gene': 'FLJ13224', 'score': 0.44}, {'connected_gene': 'SINHCAF', 'score': 0.39}]
chr12 GH12I030692 30692502 30692955 0.72 [{'connected_gene': 'DDX11', 'score': 15.37}, {'connected_gene': 'SINHCAF', 'score': 11.31}, {'connected_gene': 'IPO8', 'score': 7.5}, {'connected_gene': 'LOC105369720', 'score': 0.2}]
chr12 GH12I031234 31234069 31235763 0.69 [{'connected_gene': 'DDX11', 'score': 12.33}, {'connected_gene': 'SINHCAF', 'score': 10.52}, {'connected_gene': 'DDX11-AS1', 'score': 4.44}, {'connected_gene': 'OVOS2', 'score': 0.77}, {'connected_gene': 'ENSG00000270766', 'score': 0.44}]
chr12 GH12I031306 31306043 31309106 0.31 [{'connected_gene': 'DDX11', 'score': 4.57}, {'connected_gene': 'ENSG00000256176', 'score': 0.77}, {'connected_gene': 'SINHCAF', 'score': 0.37}, {'connected_gene': 'ENSG00000275097', 'score': 0.31}]
chr12 GH12I031072 31072716 31075029 2.03 [{'connected_gene': 'DDX11', 'score': 704.24}, {'connected_gene': 'DDX11-AS1', 'score': 550.77}, {'connected_gene': 'SINHCAF', 'score': 13.61}, {'connected_gene': 'FLJ13224', 'score': 13.49}, {'connected_gene': 'KIAA1551', 'score': 10.81}, {'connected_gene': 'IPO8', 'score': 10.08}, {'connected_gene': 'ENSG00000212533', 'score': 0.77}, {'connected_gene': 'GC12M031076', 'score': 0.77}]
chr12 GH12I032016 32016124 32018282 0.84 [{'connected_gene': 'DDX11', 'score': 92.85}, {'connected_gene': 'LOC100420981', 'score': 80.85}, {'connected_gene': 'DDX11-AS1', 'score': 64.39}, {'connected_gene': 'SINHCAF', 'score': 41.02}, {'connected_gene': 'DNM1L', 'score': 36.05}, {'connected_gene': 'BICD1', 'score': 29.09}, {'connected_gene': 'YARS2', 'score': 20.74}, {'connected_gene': 'FLJ13224', 'score': 12.51}, {'connected_gene': 'KIAA1551', 'score': 10.95}, {'connected_gene': 'AMN1', 'score': 7.0}, {'connected_gene': 'ENSG00000257094', 'score': 0.39}, {'connected_gene': 'LOC102724618', 'score': 0.34}, {'connected_gene': 'ENSG00000257852', 'score': 0.22}]
chr12 GH12I031340 31339700 31340832 0.69 [{'connected_gene': 'DENND5B', 'score': 9.77}, {'connected_gene': 'RNU5F-4P', 'score': 9.77}, {'connected_gene': 'DENND5B-AS1', 'score': 9.76}, {'connected_gene': 'GC12P031343', 'score': 0.77}, {'connected_gene': 'SINHCAF', 'score': 0.39}]
chr12 GH12I031360 31360471 31361040 0.82 [{'connected_gene': 'IPO8', 'score': 72.26}, {'connected_gene': 'DDX11', 'score': 63.0}, {'connected_gene': 'DDX11-AS1', 'score': 56.35}, {'connected_gene': 'SINHCAF', 'score': 44.12}, {'connected_gene': 'BICD1', 'score': 28.94}, {'connected_gene': 'CAPRIN2', 'score': 28.11}, {'connected_gene': 'FLJ13224', 'score': 24.23}, {'connected_gene': 'ENSG00000256984', 'score': 19.87}, {'connected_gene': 'RNU6-618P', 'score': 11.82}, {'connected_gene': 'DENND5B-AS1', 'score': 10.79}, {'connected_gene': 'RNU5F-4P', 'score': 10.78}, {'connected_gene': 'DENND5B', 'score': 10.78}, {'connected_gene': 'KIAA1551', 'score': 10.75}, {'connected_gene': 'ETFBKMT', 'score': 9.83}, {'connected_gene': 'ENSG00000283256', 'score': 0.44}, {'connected_gene': 'GC12P031343', 'score': 0.37}]
chr12 GH12I031368 31368496 31372203 1.55 [{'connected_gene': 'LINC02387', 'score': 550.77}, {'connected_gene': 'DENND5B', 'score': 15.38}, {'connected_gene': 'DENND5B-AS1', 'score': 10.66}, {'connected_gene': 'RNU5F-4P', 'score': 10.65}, {'connected_gene': 'SINHCAF', 'score': 8.92}, {'connected_gene': 'AK4P3', 'score': 7.54}, {'connected_gene': 'DDX11', 'score': 1.28}, {'connected_gene': 'ETFBKMT', 'score': 1.2}, {'connected_gene': 'GC12M031383', 'score': 0.39}]
chr12 GH12I031339 31339385 31339473 0.4 [{'connected_gene': 'DENND5B-AS1', 'score': 9.77}, {'connected_gene': 'DENND5B', 'score': 9.77}, {'connected_gene': 'RNU5F-4P', 'score': 9.77}, {'connected_gene': 'GC12P031343', 'score': 0.77}, {'connected_gene': 'SINHCAF', 'score': 0.39}]
chr12 GH12I031337 31337842 31338733 0.43 [{'connected_gene': 'RNU5F-4P', 'score': 9.77}, {'connected_gene': 'DENND5B-AS1', 'score': 9.77}, {'connected_gene': 'DENND5B', 'score': 9.77}, {'connected_gene': 'GC12P031343', 'score': 0.44}, {'connected_gene': 'SINHCAF', 'score': 0.39}]
chr12 GH12I031714 31714204 31717198 2.12 [{'connected_gene': 'STMN1P1', 'score': 550.77}, {'connected_gene': 'AMN1', 'score': 550.39}, {'connected_gene': 'H3F3C', 'score': 10.88}, {'connected_gene': 'DDX11', 'score': 10.57}, {'connected_gene': 'FLJ13224', 'score': 10.1}, {'connected_gene': 'KIAA1551', 'score': 10.06}, {'connected_gene': 'SINHCAF', 'score': 9.77}, {'connected_gene': 'GC12P031714', 'score': 0.77}]
chr12 GH12I031889 31889967 31891817 1.06 [{'connected_gene': 'DDX11-AS1', 'score': 36.89}, {'connected_gene': 'DDX11', 'score': 28.08}, {'connected_gene': 'LOC100420981', 'score': 26.93}, {'connected_gene': 'BICD1', 'score': 15.46}, {'connected_gene': 'DNM1L', 'score': 15.31}, {'connected_gene': 'YARS2', 'score': 11.58}, {'connected_gene': 'KIAA1551', 'score': 11.57}, {'connected_gene': 'SINHCAF', 'score': 10.0}, {'connected_gene': 'LINC02422', 'score': 8.45}, {'connected_gene': 'ENSG00000256465', 'score': 0.77}]
chr12 GH12I031636 31636154 31637269 1.14 [{'connected_gene': 'DDX11-AS1', 'score': 28.37}, {'connected_gene': 'IPO8', 'score': 19.47}, {'connected_gene': 'RNU6-618P', 'score': 12.06}, {'connected_gene': 'RNU5F-4P', 'score': 11.68}, {'connected_gene': 'DENND5B-AS1', 'score': 11.66}, {'connected_gene': 'DENND5B', 'score': 11.66}, {'connected_gene': 'SINHCAF', 'score': 10.46}, {'connected_gene': 'FLJ13224', 'score': 10.46}, {'connected_gene': 'CAPRIN2', 'score': 10.27}, {'connected_gene': 'GC12P031641', 'score': 0.77}, {'connected_gene': 'AK4P3', 'score': 0.34}]
chr12 GH12I031288 31288507 31288636 0.2 [{'connected_gene': 'ENSG00000275097', 'score': 0.44}, {'connected_gene': 'ENSG00000256176', 'score': 0.34}, {'connected_gene': 'SINHCAF', 'score': 0.28}]
chr12 GH12I031311 31311526 31311612 0.24 [{'connected_gene': 'ENSG00000256176', 'score': 550.77}, {'connected_gene': 'ETFBKMT', 'score': 9.7}, {'connected_gene': 'SINHCAF', 'score': 0.37}, {'connected_gene': 'ENSG00000275097', 'score': 0.29}]
chr12 GH12I031726 31726537 31730417 2.29 [{'connected_gene': 'ENSG00000276900', 'score': 550.77}, {'connected_gene': 'GC12P031730', 'score': 550.77}, {'connected_gene': 'AMN1', 'score': 550.77}, {'connected_gene': 'CAPRIN2', 'score': 29.42}, {'connected_gene': 'DDX11', 'score': 26.71}, {'connected_gene': 'DDX11-AS1', 'score': 26.45}, {'connected_gene': 'BICD1', 'score': 23.71}, {'connected_gene': 'SINHCAF', 'score': 22.85}, {'connected_gene': 'LOC100420981', 'score': 22.51}, {'connected_gene': 'FLJ13224', 'score': 20.86}, {'connected_gene': 'KIAA1551', 'score': 19.1}, {'connected_gene': 'DNM1L', 'score': 12.79}, {'connected_gene': 'H3F3C', 'score': 10.91}, {'connected_gene': 'ENSG00000256984', 'score': 10.38}, {'connected_gene': 'AK4P3', 'score': 4.87}, {'connected_gene': 'LOC105369722', 'score': 0.77}]
chr12 GH12I031121 31118201 31118836 0.95 [{'connected_gene': 'PIR58939', 'score': 550.77}, {'connected_gene': 'GC12P031123', 'score': 550.77}, {'connected_gene': 'DDX11', 'score': 33.25}, {'connected_gene': 'SINHCAF', 'score': 27.08}, {'connected_gene': 'IPO8', 'score': 23.84}, {'connected_gene': 'FLJ13224', 'score': 16.46}, {'connected_gene': 'DDX11-AS1', 'score': 12.64}, {'connected_gene': 'LOC101060058', 'score': 0.77}, {'connected_gene': 'OVOS2', 'score': 0.14}]
chr12 GH12I031383 31383611 31387986 0.74 [{'connected_gene': 'GC12M031382', 'score': 550.77}, {'connected_gene': 'DENND5B', 'score': 15.1}, {'connected_gene': 'ETFBKMT', 'score': 10.41}, {'connected_gene': 'SINHCAF', 'score': 10.35}, {'connected_gene': 'DENND5B-AS1', 'score': 10.05}, {'connected_gene': 'RNU5F-4P', 'score': 10.05}, {'connected_gene': 'AK4P3', 'score': 4.78}, {'connected_gene': 'GC12P031398', 'score': 0.39}]
chr12 GH12I031406 31406097 31407820 0.68 [{'connected_gene': 'GC12M031399', 'score': 550.77}, {'connected_gene': 'DENND5B-AS1', 'score': 11.29}, {'connected_gene': 'DENND5B', 'score': 11.29}, {'connected_gene': 'RNU5F-4P', 'score': 11.28}, {'connected_gene': 'SINHCAF', 'score': 11.21}, {'connected_gene': 'ETFBKMT', 'score': 11.05}, {'connected_gene': 'AK4P3', 'score': 7.53}, {'connected_gene': 'PIR36644', 'score': 0.44}]
chr12 GH12I031745 31745863 31752799 1.89 [{'connected_gene': 'ENSG00000256843', 'score': 550.77}, {'connected_gene': 'GC12M031774', 'score': 550.77}, {'connected_gene': 'LOC100420981', 'score': 43.51}, {'connected_gene': 'DDX11', 'score': 35.74}, {'connected_gene': 'DDX11-AS1', 'score': 21.36}, {'connected_gene': 'H3F3C', 'score': 21.34}, {'connected_gene': 'KIAA1551', 'score': 17.69}, {'connected_gene': 'CAPRIN2', 'score': 16.03}, {'connected_gene': 'BICD1', 'score': 15.45}, {'connected_gene': 'SINHCAF', 'score': 14.06}, {'connected_gene': 'DNM1L', 'score': 12.79}, {'connected_gene': 'FLJ13224', 'score': 12.66}, {'connected_gene': 'DSPA2D', 'score': 12.45}, {'connected_gene': 'AMN1', 'score': 8.88}, {'connected_gene': 'LOC105369724', 'score': 0.44}]

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