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
ENST00000412352 [[31800093, 31800189], [31814774, 31815201], [31819020, 31819151], [31820580, 31821009]] [[31814887, 31815201], [31819020, 31819151], [31820580, 31820924]]
ENST00000395763 [[31812120, 31812296], [31814774, 31815201], [31819020, 31819151], [31820580, 31821901]] [[31814887, 31815201], [31819020, 31819151], [31820580, 31820924]]
ENST00000538463 [[31812621, 31813003], [31813729, 31813917], [31814774, 31815201], [31819020, 31819151], [31820580, 31821314]] [[31814887, 31815201], [31819020, 31819151], [31820580, 31820924]]
ENST00000357721 [[31812621, 31812723], [31814774, 31815201], [31819020, 31819151], [31820580, 31826048]] [[31814887, 31815201], [31819020, 31819151], [31820580, 31820924]]
ENST00000539633 [[31812644, 31812869], [31814774, 31815103]] [[31814887, 31815103]]
ENST00000538391 [[31814870, 31815201], [31820580, 31821316]] [[31814887, 31815201], [31820580, 31820611]]
NM_001135864 [[31800093, 31800189], [31814774, 31815201], [31819020, 31819151], [31820580, 31822016]] [[31814887, 31815201], [31819020, 31819151], [31820580, 31820924]]
NM_173802 [[31812120, 31812296], [31814774, 31815201], [31819020, 31819151], [31820580, 31822016]] [[31814887, 31815201], [31819020, 31819151], [31820580, 31820924]]
NM_001135863 [[31812608, 31812723], [31814774, 31815201], [31819020, 31819151], [31820580, 31822016]] [[31814887, 31815201], [31819020, 31819151], [31820580, 31820924]]
Promoter
Chrom Start End Description
chr12 31812125 31812166 CAGE_peak_1_at_METTL20_5end
chr12 31812602 31812628 CAGE_peak_2_at_METTL20_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I032301 32301411 32302525 0.66 [{'connected_gene': 'BICD1', 'score': 13.32}, {'connected_gene': 'ETFBKMT', 'score': 10.75}, {'connected_gene': 'ENSG00000274964', 'score': 0.28}, {'connected_gene': 'LOC100420186', 'score': 0.19}]
chr12 GH12I032068 32068639 32070519 0.63 [{'connected_gene': 'KIAA1551', 'score': 10.9}, {'connected_gene': 'ETFBKMT', 'score': 9.76}, {'connected_gene': 'ENSG00000257852', 'score': 0.77}, {'connected_gene': 'ENSG00000257094', 'score': 0.21}]
chr12 GH12I032064 32064877 32065577 0.2 [{'connected_gene': 'KIAA1551', 'score': 10.9}, {'connected_gene': 'ETFBKMT', 'score': 9.76}, {'connected_gene': 'ENSG00000257852', 'score': 0.44}, {'connected_gene': 'ENSG00000257094', 'score': 0.22}]
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 GH12I031600 31600732 31601457 0.66 [{'connected_gene': 'ETFBKMT', 'score': 2.17}, {'connected_gene': 'DENND5B', 'score': 1.99}, {'connected_gene': 'GC12P031598', 'score': 0.77}, {'connected_gene': 'DENND5B-AS1', 'score': 0.39}, {'connected_gene': 'AK4P3', 'score': 0.37}]
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 GH12I031645 31645860 31647658 0.72 [{'connected_gene': 'ETFBKMT', 'score': 550.77}, {'connected_gene': 'RNU6-618P', 'score': 11.83}, {'connected_gene': 'RNU5F-4P', 'score': 10.91}, {'connected_gene': 'DENND5B-AS1', 'score': 10.9}, {'connected_gene': 'DENND5B', 'score': 10.9}, {'connected_gene': 'AK4P3', 'score': 6.62}, {'connected_gene': 'DSPA2D', 'score': 5.12}, {'connected_gene': 'GC12P031641', 'score': 0.44}]
chr12 GH12I032331 32331227 32331376 0.62 [{'connected_gene': 'ETFBKMT', 'score': 9.77}, {'connected_gene': 'ENSG00000274964', 'score': 0.44}, {'connected_gene': 'LOC100420186', 'score': 0.15}, {'connected_gene': 'BICD1', 'score': 0.07}]
chr12 GH12I031516 31516999 31521645 1.28 [{'connected_gene': 'DENND5B', 'score': 15.82}, {'connected_gene': 'DENND5B-AS1', 'score': 11.04}, {'connected_gene': 'RNU5F-4P', 'score': 11.04}, {'connected_gene': 'RNU6-618P', 'score': 10.82}, {'connected_gene': 'ETFBKMT', 'score': 10.0}, {'connected_gene': 'AK4P3', 'score': 7.28}, {'connected_gene': 'GC12M031506', 'score': 0.39}, {'connected_gene': 'ENSG00000201228', 'score': 0.39}, {'connected_gene': 'ENSG00000225349', 'score': 0.37}]
chr12 GH12I031673 31673530 31674436 0.2 [{'connected_gene': 'DSPA2D', 'score': 5.43}, {'connected_gene': 'ETFBKMT', 'score': 0.31}, {'connected_gene': 'GC12P031714', 'score': 0.28}, {'connected_gene': 'AMN1', 'score': 0.22}]
chr12 GH12I031686 31686525 31688018 0.77 [{'connected_gene': 'DSPA2D', 'score': 9.01}, {'connected_gene': 'GC12P031714', 'score': 0.31}, {'connected_gene': 'ETFBKMT', 'score': 0.26}, {'connected_gene': 'AMN1', 'score': 0.26}]
chr12 GH12I031584 31584830 31586167 0.72 [{'connected_gene': 'RNU6-618P', 'score': 10.9}, {'connected_gene': 'ETFBKMT', 'score': 10.14}, {'connected_gene': 'DENND5B', 'score': 5.16}, {'connected_gene': 'DENND5B-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000225349', 'score': 0.23}]
chr12 GH12I031586 31586528 31587343 0.46 [{'connected_gene': 'RNU6-618P', 'score': 10.89}, {'connected_gene': 'ETFBKMT', 'score': 10.14}, {'connected_gene': 'DENND5B-AS1', 'score': 0.77}, {'connected_gene': 'DENND5B', 'score': 0.77}, {'connected_gene': 'ENSG00000225349', 'score': 0.23}]
chr12 GH12I031470 31470636 31472164 0.64 [{'connected_gene': 'RNU6-618P', 'score': 11.08}, {'connected_gene': 'DENND5B-AS1', 'score': 10.64}, {'connected_gene': 'DENND5B', 'score': 10.64}, {'connected_gene': 'RNU5F-4P', 'score': 10.64}, {'connected_gene': 'ETFBKMT', 'score': 10.09}, {'connected_gene': 'AK4P3', 'score': 7.56}, {'connected_gene': 'LOC100422622', 'score': 0.44}, {'connected_gene': 'MRPL30P2', 'score': 0.44}]
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 GH12I031524 31524402 31526742 1.18 [{'connected_gene': 'DENND5B-AS1', 'score': 11.03}, {'connected_gene': 'DENND5B', 'score': 11.02}, {'connected_gene': 'RNU5F-4P', 'score': 11.02}, {'connected_gene': 'RNU6-618P', 'score': 10.93}, {'connected_gene': 'ETFBKMT', 'score': 9.8}, {'connected_gene': 'AK4P3', 'score': 6.97}, {'connected_gene': 'ENSG00000225349', 'score': 0.44}, {'connected_gene': 'GC12M031506', 'score': 0.37}, {'connected_gene': 'ENSG00000201228', 'score': 0.37}]
chr12 GH12I031649 31649886 31654055 1.1 [{'connected_gene': 'RNU5F-4P', 'score': 10.46}, {'connected_gene': 'DENND5B-AS1', 'score': 10.45}, {'connected_gene': 'DENND5B', 'score': 10.45}, {'connected_gene': 'AK4P3', 'score': 5.82}, {'connected_gene': 'ETFBKMT', 'score': 0.77}, {'connected_gene': 'GC12P031714', 'score': 0.21}]
chr12 GH12I031681 31681967 31682899 1.1 [{'connected_gene': 'DNM1L', 'score': 10.38}, {'connected_gene': 'GC12P031714', 'score': 0.29}, {'connected_gene': 'ETFBKMT', 'score': 0.28}, {'connected_gene': 'AMN1', 'score': 0.25}]
chr12 GH12I032050 32050949 32054665 1.54 [{'connected_gene': 'LOC100420981', 'score': 16.61}, {'connected_gene': 'DDX11', 'score': 12.53}, {'connected_gene': 'KIAA1551', 'score': 10.4}, {'connected_gene': 'H3F3C', 'score': 7.17}, {'connected_gene': 'AMN1', 'score': 6.95}, {'connected_gene': 'ETFBKMT', 'score': 4.47}, {'connected_gene': 'ENSG00000257852', 'score': 0.37}, {'connected_gene': 'ENSG00000257094', 'score': 0.25}]
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 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 GH12I031640 31640890 31642155 0.62 [{'connected_gene': 'GC12P031641', 'score': 550.77}, {'connected_gene': 'RNU6-618P', 'score': 11.83}, {'connected_gene': 'RNU5F-4P', 'score': 10.93}, {'connected_gene': 'DENND5B-AS1', 'score': 10.91}, {'connected_gene': 'DENND5B', 'score': 10.91}, {'connected_gene': 'ETFBKMT', 'score': 0.44}]
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}]