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
ENST00000229003 [[48103516, 48104702], [48105415, 48105558], [48106298, 48106405], [48107057, 48107171], [48110082, 48110282], [48110672, 48110841], [48111300, 48111438], [48111911, 48111977], [48119141, 48119350]] [[48104584, 48104702], [48105415, 48105558], [48106298, 48106405], [48107057, 48107171], [48110082, 48110282], [48110672, 48110841], [48111300, 48111438], [48111911, 48111977], [48119141, 48119196]]
ENST00000422538 [[48103527, 48104702], [48105415, 48105558], [48106298, 48106405], [48107057, 48107171], [48110082, 48110282], [48110672, 48110841], [48111300, 48111438], [48111911, 48111977], [48114535, 48114658], [48119141, 48119319]] [[48104584, 48104702], [48105415, 48105558], [48106298, 48106405], [48107057, 48107171], [48110082, 48110282], [48110672, 48110841], [48111300, 48111438], [48111911, 48111977], [48114535, 48114658], [48119141, 48119196]]
ENST00000542202 [[48104230, 48104702], [48106298, 48106405], [48107057, 48107171], [48110082, 48110282], [48110672, 48110841], [48111300, 48111432]] [[48104516, 48104702], [48106298, 48106405], [48107057, 48107171], [48110082, 48110131]]
ENST00000545824 [[48104236, 48104702], [48105415, 48105558], [48106298, 48106405], [48107057, 48107171], [48110082, 48110282], [48110672, 48110841], [48111300, 48111438], [48119141, 48119317]] [[48104584, 48104702], [48105415, 48105558], [48106298, 48106405], [48107057, 48107171], [48110082, 48110282], [48110672, 48110841], [48111300, 48111438], [48119141, 48119196]]
ENST00000551186 [[48110161, 48110282], [48110672, 48110841], [48111300, 48111662]] None
NM_001172439 [[48103516, 48104702], [48105415, 48105558], [48106298, 48106405], [48107057, 48107171], [48110082, 48110282], [48110672, 48110841], [48111300, 48111438], [48111911, 48111977], [48114535, 48114658], [48119141, 48119355]] [[48104584, 48104702], [48105415, 48105558], [48106298, 48106405], [48107057, 48107171], [48110082, 48110282], [48110672, 48110841], [48111300, 48111438], [48111911, 48111977], [48114535, 48114658], [48119141, 48119196]]
NM_006025 [[48103516, 48104702], [48105415, 48105558], [48106298, 48106405], [48107057, 48107171], [48110082, 48110282], [48110672, 48110841], [48111300, 48111438], [48111911, 48111977], [48119141, 48119355]] [[48104584, 48104702], [48105415, 48105558], [48106298, 48106405], [48107057, 48107171], [48110082, 48110282], [48110672, 48110841], [48111300, 48111438], [48111911, 48111977], [48119141, 48119196]]
NM_001172440 [[48103516, 48104702], [48105415, 48105558], [48106298, 48106405], [48107057, 48107171], [48110082, 48110282], [48110672, 48110841], [48111300, 48111438], [48119141, 48119355]] [[48104584, 48104702], [48105415, 48105558], [48106298, 48106405], [48107057, 48107171], [48110082, 48110282], [48110672, 48110841], [48111300, 48111438], [48119141, 48119196]]
Promoter
Chrom Start End Description
chr12 48119219 48119230 CAGE_peak_3_at_ENDOU_5end
chr12 48119266 48119279 CAGE_peak_1_at_ENDOU_5end
chr12 48119301 48119329 CAGE_peak_2_at_ENDOU_5end
chr12 48119340 48119350 CAGE_peak_5_at_ENDOU_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I047722 47722258 47722407 0.77 [{'connected_gene': 'ENDOU', 'score': 0.77}, {'connected_gene': 'ENSG00000257433', 'score': 0.37}, {'connected_gene': 'LOC105369748', 'score': 0.37}]
chr12 GH12I047734 47734238 47738620 1.07 [{'connected_gene': 'ENDOU', 'score': 10.55}, {'connected_gene': 'RAPGEF3', 'score': 9.8}, {'connected_gene': 'ENSG00000257433', 'score': 8.48}, {'connected_gene': 'ENSG00000274902', 'score': 0.77}, {'connected_gene': 'SLC48A1', 'score': 0.37}, {'connected_gene': 'LOC105369748', 'score': 0.29}]
chr12 GH12I047739 47739558 47741871 1.17 [{'connected_gene': 'ENDOU', 'score': 10.55}, {'connected_gene': 'ENSG00000257433', 'score': 8.44}, {'connected_gene': 'RAPGEF3', 'score': 5.79}, {'connected_gene': 'HDAC7', 'score': 4.92}, {'connected_gene': 'ENSG00000274902', 'score': 0.44}, {'connected_gene': 'SLC48A1', 'score': 0.39}, {'connected_gene': 'LOC105369748', 'score': 0.29}]
chr12 GH12I047726 47726957 47727711 0.2 [{'connected_gene': 'ENDOU', 'score': 550.77}, {'connected_gene': 'ENSG00000257433', 'score': 9.06}, {'connected_gene': 'RAPGEF3', 'score': 6.08}, {'connected_gene': 'ENSG00000280054', 'score': 0.77}, {'connected_gene': 'LOC105369748', 'score': 0.34}]
chr12 GH12I047725 47725185 47726811 1.26 [{'connected_gene': 'ENDOU', 'score': 556.55}, {'connected_gene': 'ENSG00000257433', 'score': 9.45}, {'connected_gene': 'RAPGEF3', 'score': 6.35}, {'connected_gene': 'ENSG00000280054', 'score': 0.77}, {'connected_gene': 'LOC105369748', 'score': 0.37}]
chr12 GH12I047651 47651401 47652071 0.89 [{'connected_gene': 'ENDOU', 'score': 7.3}, {'connected_gene': 'PIR37519', 'score': 0.39}, {'connected_gene': 'ENSG00000276390', 'score': 0.25}]
chr12 GH12I047772 47772743 47778247 2.24 [{'connected_gene': 'SLC48A1', 'score': 562.28}, {'connected_gene': 'RPAP3', 'score': 11.9}, {'connected_gene': 'ENDOU', 'score': 11.58}, {'connected_gene': 'KANSL2', 'score': 11.02}, {'connected_gene': 'SENP1', 'score': 10.15}, {'connected_gene': 'ENSG00000205537', 'score': 10.08}, {'connected_gene': 'ENSG00000268069', 'score': 8.75}, {'connected_gene': 'RAPGEF3', 'score': 5.13}, {'connected_gene': 'GC12M047752', 'score': 0.44}]
chr12 GH12I047780 47778294 47778435 0.38 [{'connected_gene': 'SLC48A1', 'score': 12.28}, {'connected_gene': 'RPAP3', 'score': 11.89}, {'connected_gene': 'ENDOU', 'score': 11.56}, {'connected_gene': 'ENSG00000205537', 'score': 10.09}, {'connected_gene': 'GC12M047752', 'score': 0.77}, {'connected_gene': 'RAPGEF3', 'score': 0.44}]
chr12 GH12I047778 47778918 47778967 0.51 [{'connected_gene': 'SLC48A1', 'score': 12.25}, {'connected_gene': 'RPAP3', 'score': 11.89}, {'connected_gene': 'ENDOU', 'score': 11.56}, {'connected_gene': 'ENSG00000205537', 'score': 10.09}, {'connected_gene': 'GC12M047752', 'score': 0.77}, {'connected_gene': 'RAPGEF3', 'score': 0.44}]
chr12 GH12I047779 47779000 47780268 1.25 [{'connected_gene': 'SLC48A1', 'score': 17.55}, {'connected_gene': 'RPAP3', 'score': 11.89}, {'connected_gene': 'ENDOU', 'score': 11.56}, {'connected_gene': 'LOC102725258', 'score': 11.19}, {'connected_gene': 'ENSG00000205537', 'score': 10.09}, {'connected_gene': 'ENSG00000268069', 'score': 9.99}, {'connected_gene': 'GC12M047752', 'score': 0.77}, {'connected_gene': 'RAPGEF3', 'score': 0.44}]
chr12 GH12I047721 47721618 47721767 0.31 [{'connected_gene': 'SLC48A1', 'score': 12.84}, {'connected_gene': 'RAPGEF3', 'score': 12.79}, {'connected_gene': 'TMEM106C', 'score': 9.84}, {'connected_gene': 'ENDOU', 'score': 0.77}, {'connected_gene': 'ENSG00000257433', 'score': 0.37}, {'connected_gene': 'LOC105369748', 'score': 0.37}]
chr12 GH12I047714 47714296 47714568 0.2 [{'connected_gene': 'SLC48A1', 'score': 12.58}, {'connected_gene': 'RAPGEF3', 'score': 12.52}, {'connected_gene': 'HDAC7', 'score': 11.71}, {'connected_gene': 'TMEM106C', 'score': 9.57}, {'connected_gene': 'ENSG00000257433', 'score': 0.44}, {'connected_gene': 'LOC105369748', 'score': 0.44}, {'connected_gene': 'ENDOU', 'score': 0.39}]
chr12 GH12I047712 47712687 47713127 0.31 [{'connected_gene': 'SLC48A1', 'score': 12.18}, {'connected_gene': 'RAPGEF3', 'score': 12.14}, {'connected_gene': 'HDAC7', 'score': 11.64}, {'connected_gene': 'VDR', 'score': 10.46}, {'connected_gene': 'ENSG00000205537', 'score': 9.45}, {'connected_gene': 'CCDC184', 'score': 8.93}, {'connected_gene': 'ASB8', 'score': 8.93}, {'connected_gene': 'LOC105369748', 'score': 0.44}, {'connected_gene': 'ENSG00000257433', 'score': 0.44}, {'connected_gene': 'ENDOU', 'score': 0.39}]
chr12 GH12I047713 47713250 47713520 0.2 [{'connected_gene': 'SLC48A1', 'score': 12.18}, {'connected_gene': 'RAPGEF3', 'score': 12.14}, {'connected_gene': 'HDAC7', 'score': 11.64}, {'connected_gene': 'VDR', 'score': 10.46}, {'connected_gene': 'ENSG00000205537', 'score': 9.45}, {'connected_gene': 'CCDC184', 'score': 8.93}, {'connected_gene': 'ASB8', 'score': 8.93}, {'connected_gene': 'LOC105369748', 'score': 0.44}, {'connected_gene': 'ENSG00000257433', 'score': 0.44}, {'connected_gene': 'ENDOU', 'score': 0.39}]
chr12 GH12I047709 47709388 47710662 0.69 [{'connected_gene': 'SLC48A1', 'score': 12.18}, {'connected_gene': 'RAPGEF3', 'score': 12.12}, {'connected_gene': 'HDAC7', 'score': 11.64}, {'connected_gene': 'VDR', 'score': 10.46}, {'connected_gene': 'ENSG00000257433', 'score': 10.1}, {'connected_gene': 'ENSG00000205537', 'score': 9.44}, {'connected_gene': 'ASB8', 'score': 8.93}, {'connected_gene': 'CCDC184', 'score': 8.93}, {'connected_gene': 'LOC105369748', 'score': 0.77}, {'connected_gene': 'ENDOU', 'score': 0.37}]
chr12 GH12I047716 47716647 47719022 1.26 [{'connected_gene': 'SLC48A1', 'score': 12.58}, {'connected_gene': 'RAPGEF3', 'score': 12.53}, {'connected_gene': 'LOC102725258', 'score': 11.97}, {'connected_gene': 'HDAC7', 'score': 11.71}, {'connected_gene': 'KANSL2', 'score': 10.29}, {'connected_gene': 'ENSG00000257433', 'score': 9.81}, {'connected_gene': 'TMEM106C', 'score': 9.57}, {'connected_gene': 'RPAP3', 'score': 4.9}, {'connected_gene': 'ENDOU', 'score': 0.44}, {'connected_gene': 'LOC105369748', 'score': 0.39}]
chr12 GH12I047804 47804931 47830565 2.8 [{'connected_gene': 'HDAC7', 'score': 569.37}, {'connected_gene': 'ENSG00000274737', 'score': 550.77}, {'connected_gene': 'LOC390314', 'score': 23.54}, {'connected_gene': 'KANSL2', 'score': 22.42}, {'connected_gene': 'CCNT1', 'score': 16.32}, {'connected_gene': 'RAPGEF3', 'score': 16.3}, {'connected_gene': 'ASB8', 'score': 13.73}, {'connected_gene': 'VDR', 'score': 11.95}, {'connected_gene': 'SENP1', 'score': 11.72}, {'connected_gene': 'SLC48A1', 'score': 11.5}, {'connected_gene': 'LOC102725258', 'score': 11.22}, {'connected_gene': 'RPL37P19', 'score': 11.15}, {'connected_gene': 'ENSG00000205537', 'score': 11.13}, {'connected_gene': 'ENSG00000268069', 'score': 10.67}, {'connected_gene': 'ENDOU', 'score': 10.41}, {'connected_gene': 'TMEM106C', 'score': 10.15}, {'connected_gene': 'CCDC184', 'score': 9.59}, {'connected_gene': 'PFKM', 'score': 4.59}, {'connected_gene': 'OR10AD1', 'score': 3.25}, {'connected_gene': 'RPAP3', 'score': 2.28}, {'connected_gene': 'LINC02354', 'score': 0.44}, {'connected_gene': 'ENSG00000276691', 'score': 0.31}]
chr12 GH12I048104 48104238 48108341 2.11 [{'connected_gene': 'SENP1', 'score': 593.55}, {'connected_gene': 'PFKM', 'score': 550.77}, {'connected_gene': 'DDX23', 'score': 75.47}, {'connected_gene': 'KMT2D', 'score': 63.45}, {'connected_gene': 'CCNT1', 'score': 62.92}, {'connected_gene': 'LOC390314', 'score': 52.81}, {'connected_gene': 'KANSL2', 'score': 48.84}, {'connected_gene': 'RPL37P19', 'score': 31.3}, {'connected_gene': 'OR5BK1P', 'score': 30.48}, {'connected_gene': 'HDAC7', 'score': 23.07}, {'connected_gene': 'ADCY6', 'score': 21.1}, {'connected_gene': 'RPAP3', 'score': 19.31}, {'connected_gene': 'ZNF641', 'score': 16.44}, {'connected_gene': 'H1FNT', 'score': 15.89}, {'connected_gene': 'RNU6-1203P', 'score': 10.72}, {'connected_gene': 'C12orf54', 'score': 10.55}, {'connected_gene': 'PRKAG1', 'score': 10.31}, {'connected_gene': 'TMEM106C', 'score': 9.98}, {'connected_gene': 'ASB8', 'score': 9.74}, {'connected_gene': 'CCDC184', 'score': 9.66}, {'connected_gene': 'ENDOU', 'score': 4.24}]
chr12 GH12I047723 47722533 47723309 0.74 [{'connected_gene': 'RAPGEF3', 'score': 6.33}, {'connected_gene': 'ENDOU', 'score': 5.31}, {'connected_gene': 'ENSG00000257433', 'score': 0.37}, {'connected_gene': 'LOC105369748', 'score': 0.37}]
chr12 GH12I047841 47841615 47842476 0.63 [{'connected_gene': 'RAPGEF3', 'score': 11.65}, {'connected_gene': 'SLC48A1', 'score': 11.63}, {'connected_gene': 'ENSG00000205537', 'score': 11.04}, {'connected_gene': 'ENDOU', 'score': 10.82}, {'connected_gene': 'VDR', 'score': 10.48}, {'connected_gene': 'TMEM106C', 'score': 10.34}, {'connected_gene': 'ASB8', 'score': 9.66}, {'connected_gene': 'CCDC184', 'score': 9.66}, {'connected_gene': 'HDAC7', 'score': 0.44}]
chr12 GH12I047751 47751157 47760051 2.4 [{'connected_gene': 'RAPGEF3', 'score': 566.48}, {'connected_gene': 'SLC48A1', 'score': 550.77}, {'connected_gene': 'ENDOU', 'score': 18.01}, {'connected_gene': 'LOC102725258', 'score': 9.68}, {'connected_gene': 'ENSG00000268069', 'score': 6.79}, {'connected_gene': 'ENSG00000257433', 'score': 4.54}, {'connected_gene': 'ENSG00000277173', 'score': 0.39}, {'connected_gene': 'GC12M047752', 'score': 0.31}]
chr12 GH12I047715 47714918 47716467 1.17 [{'connected_gene': 'RAPGEF3', 'score': 21.8}, {'connected_gene': 'OR5BK1P', 'score': 18.82}, {'connected_gene': 'ENSG00000257433', 'score': 12.98}, {'connected_gene': 'SLC48A1', 'score': 12.58}, {'connected_gene': 'HDAC7', 'score': 11.71}, {'connected_gene': 'C12orf54', 'score': 10.52}, {'connected_gene': 'TMEM106C', 'score': 9.57}, {'connected_gene': 'ENDOU', 'score': 0.44}, {'connected_gene': 'LOC105369748', 'score': 0.44}]
chr12 GH12I047781 47781144 47781260 0.38 [{'connected_gene': 'GC12M047752', 'score': 550.77}, {'connected_gene': 'SLC48A1', 'score': 12.25}, {'connected_gene': 'RPAP3', 'score': 11.88}, {'connected_gene': 'ENDOU', 'score': 11.55}, {'connected_gene': 'ENSG00000205537', 'score': 10.09}, {'connected_gene': 'RAPGEF3', 'score': 0.39}]
chr12 GH12I047782 47781498 47783447 0.72 [{'connected_gene': 'GC12M047752', 'score': 550.77}, {'connected_gene': 'PIR42032', 'score': 550.77}, {'connected_gene': 'GC12P047785', 'score': 550.77}, {'connected_gene': 'SLC48A1', 'score': 12.25}, {'connected_gene': 'RPAP3', 'score': 11.88}, {'connected_gene': 'HDAC7', 'score': 11.59}, {'connected_gene': 'ENDOU', 'score': 11.55}, {'connected_gene': 'ENSG00000268069', 'score': 10.99}, {'connected_gene': 'ENSG00000205537', 'score': 10.3}, {'connected_gene': 'VDR', 'score': 10.08}]
chr12 GH12I047786 47786709 47787293 0.2 [{'connected_gene': 'ENSG00000276691', 'score': 550.77}, {'connected_gene': 'HDAC7', 'score': 13.01}, {'connected_gene': 'ENDOU', 'score': 11.97}, {'connected_gene': 'SLC48A1', 'score': 11.69}, {'connected_gene': 'VDR', 'score': 10.69}, {'connected_gene': 'ENSG00000205537', 'score': 10.2}, {'connected_gene': 'ENSG00000268069', 'score': 5.17}]
chr12 GH12I047785 47785530 47786552 0.58 [{'connected_gene': 'ENSG00000268069', 'score': 559.61}, {'connected_gene': 'HDAC7', 'score': 12.2}, {'connected_gene': 'ENDOU', 'score': 11.97}, {'connected_gene': 'SLC48A1', 'score': 11.69}, {'connected_gene': 'ENSG00000205537', 'score': 10.2}, {'connected_gene': 'ENSG00000276691', 'score': 0.77}]
chr12 GH12I047704 47704952 47707727 2.32 [{'connected_gene': 'ENSG00000257433', 'score': 564.07}, {'connected_gene': 'LOC105369748', 'score': 550.77}, {'connected_gene': 'RPAP3', 'score': 550.77}, {'connected_gene': 'OR5BK1P', 'score': 20.97}, {'connected_gene': 'VDR', 'score': 13.79}, {'connected_gene': 'SLC48A1', 'score': 12.16}, {'connected_gene': 'RAPGEF3', 'score': 12.12}, {'connected_gene': 'H1FNT', 'score': 12.04}, {'connected_gene': 'HDAC7', 'score': 11.64}, {'connected_gene': 'SENP1', 'score': 11.53}, {'connected_gene': 'ASB8', 'score': 10.31}, {'connected_gene': 'ENSG00000205537', 'score': 9.45}, {'connected_gene': 'CCDC184', 'score': 8.93}, {'connected_gene': 'ENDOU', 'score': 7.99}]
chr12 GH12I047728 47728523 47730997 0.66 [{'connected_gene': 'ENSG00000280054', 'score': 550.77}, {'connected_gene': 'RAPGEF3', 'score': 9.77}, {'connected_gene': 'ENDOU', 'score': 9.52}, {'connected_gene': 'ENSG00000257433', 'score': 8.87}, {'connected_gene': 'SNORA2C', 'score': 3.88}, {'connected_gene': 'LOC105369748', 'score': 0.34}]
chr12 GH12I047577 47576818 47577823 0.31 [{'connected_gene': 'ENSG00000257433', 'score': 11.27}, {'connected_gene': 'RAPGEF3', 'score': 9.3}, {'connected_gene': 'ENDOU', 'score': 4.31}, {'connected_gene': 'ENSG00000257905', 'score': 0.37}, {'connected_gene': 'LOC100127978', 'score': 0.16}]
chr12 GH12I047610 47610589 47611814 0.2 [{'connected_gene': 'ENSG00000257433', 'score': 13.24}, {'connected_gene': 'RAPGEF3', 'score': 10.78}, {'connected_gene': 'ENDOU', 'score': 7.2}, {'connected_gene': 'GC12P047607', 'score': 0.77}, {'connected_gene': 'PIR37519', 'score': 0.31}]

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