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
ENST00000432874 [[38179551, 38179769], [38180402, 38180562], [38181526, 38181669], [38184049, 38184158], [38184332, 38184488], [38184624, 38184725], [38185179, 38185279], [38185580, 38185729], [38186022, 38186226], [38186454, 38186516], [38187331, 38187517], [38188476, 38188603], [38188712, 38188838], [38188982, 38189044], [38192773, 38192882], [38197082, 38197166]] [[38187372, 38187517], [38188476, 38188603], [38188712, 38188838], [38188982, 38189044], [38192773, 38192882], [38197082, 38197166]]
ENST00000534097 [[38179557, 38179769], [38180402, 38180562], [38181526, 38181669], [38184047, 38184158], [38184332, 38184488], [38185179, 38185279], [38185580, 38185730], [38186022, 38186226], [38186454, 38186516], [38187331, 38187517], [38188712, 38188838], [38188982, 38189044], [38192773, 38192882], [38197082, 38197245]] [[38184471, 38184488], [38185179, 38185279], [38185580, 38185730], [38186022, 38186226], [38186454, 38186516], [38187331, 38187517], [38188712, 38188838], [38188982, 38189044], [38192773, 38192882], [38197082, 38197245]]
ENST00000437645 [[38179559, 38179695], [38180402, 38180562], [38181526, 38181669], [38184047, 38184158], [38184332, 38184488], [38185179, 38185279], [38185580, 38185730], [38186022, 38186226], [38186454, 38186516], [38187331, 38187517], [38187677, 38187968], [38188712, 38188838], [38188982, 38189044], [38192773, 38192882], [38197082, 38197254], [38200928, 38201062], [38218547, 38218578]] [[38187945, 38187968], [38188712, 38188838], [38188982, 38189044], [38192773, 38192882], [38197082, 38197254], [38200928, 38201062], [38218547, 38218578]]
ENST00000540011 [[38179560, 38179695], [38180402, 38180562], [38181526, 38181669], [38184047, 38184158], [38184332, 38184488], [38185179, 38185279], [38185580, 38185730], [38186022, 38186226], [38186454, 38186516], [38187331, 38187517], [38187677, 38187968], [38188712, 38188838], [38188982, 38189044], [38192773, 38192882], [38197082, 38197254], [38200928, 38201062], [38218547, 38218578]] [[38187945, 38187968], [38188712, 38188838], [38188982, 38189044], [38192773, 38192882], [38197082, 38197230]]
ENST00000330210 [[38179560, 38179695], [38180402, 38180562], [38181526, 38181669], [38184049, 38184158], [38184332, 38184488], [38185085, 38185279], [38185580, 38185730], [38186022, 38186226], [38186454, 38186516], [38187331, 38187517], [38188712, 38188838], [38188982, 38189044], [38192773, 38192882], [38197082, 38197254], [38200928, 38201062], [38222207, 38222363]] [[38181543, 38181669], [38184049, 38184158], [38184332, 38184488], [38185085, 38185279], [38185580, 38185730], [38186022, 38186226], [38186454, 38186516], [38187331, 38187517], [38188712, 38188838], [38188982, 38189044], [38192773, 38192882], [38197082, 38197230]]
ENST00000427468 [[38179560, 38179695], [38180402, 38180562], [38181526, 38181669], [38184047, 38184158], [38184332, 38184488], [38185085, 38185279], [38185580, 38185730], [38186022, 38186226], [38186454, 38186516], [38187331, 38187517], [38188712, 38188838], [38188982, 38189044], [38192773, 38192882], [38197082, 38197254], [38200928, 38201062], [38218547, 38218898], [38219886, 38220042], [38227076, 38227755], [38228456, 38228521], [38230632, 38230738]] [[38181647, 38181669], [38184047, 38184158], [38184332, 38184488], [38185085, 38185279], [38185580, 38185730], [38186022, 38186226], [38186454, 38186516], [38187331, 38187517], [38188712, 38188838], [38188982, 38189044], [38192773, 38192882], [38197082, 38197254], [38200928, 38201062], [38218547, 38218898], [38219886, 38220042], [38227076, 38227755], [38228456, 38228521], [38230632, 38230738]]
ENST00000444950 [[38179564, 38179695], [38180402, 38180692]] None
ENST00000446149 [[38180525, 38180562], [38181526, 38181669], [38184049, 38184158], [38184332, 38184488], [38185085, 38185279], [38185580, 38185730], [38186022, 38186226], [38186454, 38186516], [38187331, 38187517], [38188712, 38188838], [38188982, 38189044], [38192773, 38192882], [38197082, 38197254], [38200928, 38201062], [38222207, 38222363]] None
ENST00000373048 [[38181645, 38184158], [38184332, 38184488], [38185085, 38185279], [38185580, 38185730], [38186022, 38186226], [38186454, 38186516], [38187331, 38187517], [38188712, 38188838], [38188982, 38189044], [38192773, 38192882], [38197082, 38197254], [38200928, 38201062], [38218547, 38218898], [38219886, 38220042], [38227076, 38227755], [38228456, 38228521], [38230632, 38230738]] [[38184043, 38184158], [38184332, 38184488], [38185085, 38185279], [38185580, 38185730], [38186022, 38186226], [38186454, 38186516], [38187331, 38187517], [38188712, 38188838], [38188982, 38189044], [38192773, 38192882], [38197082, 38197254], [38200928, 38201062], [38218547, 38218898], [38219886, 38220042], [38227076, 38227755], [38228456, 38228521], [38230632, 38230738]]
ENST00000453577 [[38186350, 38186516], [38187331, 38187529]] None
ENST00000525749 [[38192864, 38192882], [38197082, 38197254], [38200251, 38200359], [38200928, 38201062], [38218547, 38218666]] [[38200335, 38200359], [38200928, 38201062], [38218547, 38218666]]
ENST00000319637 [[38225943, 38227755], [38228456, 38228521], [38230632, 38230805]] [[38227038, 38227755], [38228456, 38228521], [38230632, 38230738]]
NM_001099439 [[38181645, 38184158], [38184332, 38184488], [38185085, 38185279], [38185580, 38185730], [38186022, 38186226], [38186454, 38186516], [38187331, 38187517], [38188712, 38188838], [38188982, 38189044], [38192773, 38192882], [38197082, 38197254], [38200928, 38201062], [38218547, 38218898], [38219886, 38220042], [38227076, 38227755], [38228456, 38228521], [38230632, 38230824]] [[38184043, 38184158], [38184332, 38184488], [38185085, 38185279], [38185580, 38185730], [38186022, 38186226], [38186454, 38186516], [38187331, 38187517], [38188712, 38188838], [38188982, 38189044], [38192773, 38192882], [38197082, 38197254], [38200928, 38201062], [38218547, 38218898], [38219886, 38220042], [38227076, 38227755], [38228456, 38228521], [38230632, 38230738]]
NM_173641 [[38225943, 38227755], [38228456, 38228521], [38230632, 38230824]] [[38227038, 38227755], [38228456, 38228521], [38230632, 38230738]]
Promoter
Chrom Start End Description
chr1 38218577 38218588 CAGE_peak_5_at_EPHA10_5end
chr1 38218592 38218619 CAGE_peak_4_at_EPHA10_5end
chr1 38218622 38218632 CAGE_peak_6_at_EPHA10_5end
chr1 38218857 38218878 CAGE_peak_3_at_EPHA10_5end
chr1 38218882 38218927 CAGE_peak_1_at_EPHA10_5end
chr1 38230778 38230827 CAGE_peak_2_at_EPHA10_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I037688 37688686 37693558 2.11 [{'connected_gene': 'C1orf109', 'score': 581.46}, {'connected_gene': 'CDCA8', 'score': 550.77}, {'connected_gene': 'SF3A3', 'score': 43.06}, {'connected_gene': 'EPHA10', 'score': 37.91}, {'connected_gene': 'GNL2', 'score': 29.67}, {'connected_gene': 'FTH1P1', 'score': 21.01}, {'connected_gene': 'RSPO1', 'score': 11.01}, {'connected_gene': 'YRDC', 'score': 10.5}, {'connected_gene': 'DNALI1', 'score': 6.4}, {'connected_gene': 'GC01P037645', 'score': 0.25}]
chr1 GH01I038108 38108197 38108553 0.34 [{'connected_gene': 'POU3F1', 'score': 6.03}, {'connected_gene': 'EPHA10', 'score': 2.66}, {'connected_gene': 'MANEAL', 'score': 1.49}, {'connected_gene': 'MIR3659', 'score': 0.37}, {'connected_gene': 'GC01P038138', 'score': 0.31}, {'connected_gene': 'LOC105378653', 'score': 0.21}, {'connected_gene': 'ENSG00000224592', 'score': 0.21}]
chr1 GH01I037705 37705109 37705258 0.38 [{'connected_gene': 'EPHA10', 'score': 10.6}, {'connected_gene': 'ENSG00000233728', 'score': 10.15}, {'connected_gene': 'MTF1', 'score': 9.89}, {'connected_gene': 'ENSG00000230955', 'score': 9.88}, {'connected_gene': 'PIR57553', 'score': 0.77}, {'connected_gene': 'GC01P037710', 'score': 0.77}, {'connected_gene': 'CDCA8', 'score': 0.39}]
chr1 GH01I037696 37696744 37698241 0.2 [{'connected_gene': 'EPHA10', 'score': 49.98}, {'connected_gene': 'INPP5B', 'score': 5.33}, {'connected_gene': 'C1orf109', 'score': 5.23}, {'connected_gene': 'CDCA8', 'score': 0.44}, {'connected_gene': 'PIR57553', 'score': 0.39}, {'connected_gene': 'GC01P037710', 'score': 0.39}]
chr1 GH01I037682 37682272 37683078 0.63 [{'connected_gene': 'EPHA10', 'score': 36.43}, {'connected_gene': 'GNL2', 'score': 11.59}, {'connected_gene': 'ENSG00000233728', 'score': 9.87}, {'connected_gene': 'C1orf109', 'score': 0.44}, {'connected_gene': 'GC01P037645', 'score': 0.28}]
chr1 GH01I037957 37957879 37960410 0.43 [{'connected_gene': 'EPHA10', 'score': 5.17}, {'connected_gene': 'SF3A3', 'score': 5.06}, {'connected_gene': 'FHL3', 'score': 4.75}, {'connected_gene': 'C1orf109', 'score': 4.6}, {'connected_gene': 'ENSG00000277168', 'score': 0.44}]
chr1 GH01I037765 37765110 37765169 0.79 [{'connected_gene': 'EPHA10', 'score': 550.77}, {'connected_gene': 'ENSG00000200421', 'score': 0.31}]
chr1 GH01I037752 37752800 37753001 0.79 [{'connected_gene': 'C1orf122', 'score': 10.32}, {'connected_gene': 'YRDC', 'score': 10.31}, {'connected_gene': 'ENSG00000233728', 'score': 10.31}, {'connected_gene': 'ENSG00000200421', 'score': 0.39}, {'connected_gene': 'EPHA10', 'score': 0.39}]
chr1 GH01I037498 37498708 37500029 0.99 [{'connected_gene': 'MIR5581', 'score': 550.77}, {'connected_gene': 'GNL2', 'score': 17.29}, {'connected_gene': 'DNALI1', 'score': 14.64}, {'connected_gene': 'MEAF6', 'score': 14.08}, {'connected_gene': 'CDCA8', 'score': 9.88}, {'connected_gene': 'C1orf109', 'score': 9.88}, {'connected_gene': 'LINC01137', 'score': 5.3}, {'connected_gene': 'EPHA10', 'score': 5.29}, {'connected_gene': 'PIR46555', 'score': 0.37}]
chr1 GH01I037811 37810201 37810400 0.46 [{'connected_gene': 'PIR60496', 'score': 550.77}, {'connected_gene': 'GC01M037825', 'score': 550.77}, {'connected_gene': 'PIR56555', 'score': 550.77}, {'connected_gene': 'GC01M037828', 'score': 550.77}, {'connected_gene': 'MTF1', 'score': 11.56}, {'connected_gene': 'ENSG00000230955', 'score': 11.55}, {'connected_gene': 'EPHA10', 'score': 10.52}, {'connected_gene': 'UTP11', 'score': 9.79}, {'connected_gene': 'FHL3', 'score': 9.79}, {'connected_gene': 'YRDC', 'score': 0.77}, {'connected_gene': 'GC01M037824', 'score': 0.77}]
chr1 GH01I037810 37810801 37811401 1.01 [{'connected_gene': 'PIR60496', 'score': 550.77}, {'connected_gene': 'PIR49672', 'score': 550.77}, {'connected_gene': 'GC01M037825', 'score': 550.77}, {'connected_gene': 'PIR56555', 'score': 550.77}, {'connected_gene': 'GC01M037828', 'score': 550.77}, {'connected_gene': 'PIR40914', 'score': 550.77}, {'connected_gene': 'INPP5B', 'score': 25.19}, {'connected_gene': 'MTF1', 'score': 11.56}, {'connected_gene': 'ENSG00000230955', 'score': 11.56}, {'connected_gene': 'EPHA10', 'score': 10.52}, {'connected_gene': 'FHL3', 'score': 9.79}, {'connected_gene': 'UTP11', 'score': 9.79}, {'connected_gene': 'YRDC', 'score': 0.77}, {'connected_gene': 'GC01M037824', 'score': 0.77}]
chr1 GH01I037318 37318597 37318930 0.53 [{'connected_gene': 'GC01P037318', 'score': 550.77}, {'connected_gene': 'EPHA10', 'score': 19.48}, {'connected_gene': 'GRIK3', 'score': 1.64}, {'connected_gene': 'ENSG00000223944', 'score': 0.44}]
chr1 GH01I037737 37737938 37737961 0.22 [{'connected_gene': 'ENSG00000200421', 'score': 550.77}, {'connected_gene': 'EPHA10', 'score': 11.34}, {'connected_gene': 'ENSG00000233728', 'score': 10.16}, {'connected_gene': 'GC01M037738', 'score': 0.44}, {'connected_gene': 'PIR41573', 'score': 0.44}]
chr1 GH01I037739 37739309 37739498 0.54 [{'connected_gene': 'ENSG00000200421', 'score': 550.77}, {'connected_gene': 'EPHA10', 'score': 11.34}, {'connected_gene': 'ENSG00000233728', 'score': 10.16}]

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