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
NM_013270 [[46753605, 46753972], [46754390, 46754557], [46755707, 46755991], [46757024, 46757187], [46758926, 46759127], [46759208, 46759373]] [[46753735, 46753972], [46754390, 46754557], [46755707, 46755991], [46757024, 46757187], [46758926, 46759127], [46759208, 46759314]]
Promoter
Chrom Start End Description
chr3 46759327 46759340 CAGE_peak_2_at_PRSS50_5end
chr3 46759346 46759363 CAGE_peak_3_at_PRSS50_5end
chr3 46775607 46775608 CAGE_peak_6_at_PRSS50_5end
chr3 46777911 46777952 CAGE_peak_2_at_PRSS46_5end,CAGE_peak_4_at_PRSS50_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I046564 46564610 46567409 2.06 [{'connected_gene': 'LRRC2', 'score': 594.83}, {'connected_gene': 'LTF', 'score': 11.5}, {'connected_gene': 'RTP3', 'score': 11.37}, {'connected_gene': 'PRSS50', 'score': 7.61}, {'connected_gene': 'PRSS46P', 'score': 7.44}, {'connected_gene': 'CCRL2', 'score': 5.43}, {'connected_gene': 'SCAP', 'score': 4.08}, {'connected_gene': 'LRRC2-AS1', 'score': 0.44}, {'connected_gene': 'TDGF1', 'score': 0.44}]
chr3 GH03I046811 46811728 46812900 1.14 [{'connected_gene': 'PRSS44', 'score': 550.77}, {'connected_gene': 'PRSS43', 'score': 550.77}, {'connected_gene': 'ENSG00000284672', 'score': 550.77}, {'connected_gene': 'PRSS50', 'score': 11.01}, {'connected_gene': 'ENSG00000238013', 'score': 0.39}]
chr3 GH03I046844 46844579 46847183 1.28 [{'connected_gene': 'PRSS45', 'score': 27.12}, {'connected_gene': 'ALS2CL', 'score': 16.04}, {'connected_gene': 'PTH1R', 'score': 12.82}, {'connected_gene': 'MYL3', 'score': 12.8}, {'connected_gene': 'PRSS44', 'score': 11.73}, {'connected_gene': 'PRSS50', 'score': 11.5}, {'connected_gene': 'LRRC2', 'score': 4.41}, {'connected_gene': 'PRSS42', 'score': 0.39}]
chr3 GH03I046699 46699720 46700400 0.77 [{'connected_gene': 'PRSS45', 'score': 10.88}, {'connected_gene': 'ALS2CL', 'score': 4.68}, {'connected_gene': 'TMIE', 'score': 0.44}, {'connected_gene': 'PRSS50', 'score': 0.37}]
chr3 GH03I047522 47522002 47522601 1.2 [{'connected_gene': 'PRSS50', 'score': 5.57}, {'connected_gene': 'ZNF589', 'score': 4.98}, {'connected_gene': 'KLHL18', 'score': 4.88}, {'connected_gene': 'ELP6', 'score': 0.44}, {'connected_gene': 'LOC105377074', 'score': 0.39}]
chr3 GH03I046717 46717833 46717892 0.92 [{'connected_gene': 'PRSS50', 'score': 550.77}, {'connected_gene': 'PRSS45', 'score': 4.43}, {'connected_gene': 'TMIE', 'score': 0.34}]
chr3 GH03I046872 46872184 46872539 0.42 [{'connected_gene': 'PRSS50', 'score': 31.8}, {'connected_gene': 'PRSS46P', 'score': 31.09}, {'connected_gene': 'KIF9', 'score': 3.54}, {'connected_gene': 'PTH1R', 'score': 0.44}, {'connected_gene': 'MYL3', 'score': 0.44}, {'connected_gene': 'PRSS42', 'score': 0.28}]
chr3 GH03I046724 46724918 46726560 0.38 [{'connected_gene': 'SETD2', 'score': 18.14}, {'connected_gene': 'PRSS45', 'score': 11.65}, {'connected_gene': 'PRSS50', 'score': 10.1}, {'connected_gene': 'RN7SL145P', 'score': 9.98}, {'connected_gene': 'PTPN23', 'score': 9.71}, {'connected_gene': 'PRSS46P', 'score': 5.71}]
chr3 GH03I046700 46700805 46701958 1.09 [{'connected_gene': 'TMIE', 'score': 550.44}, {'connected_gene': 'PRSS45', 'score': 12.56}, {'connected_gene': 'PRSS50', 'score': 7.35}, {'connected_gene': 'ALS2CL', 'score': 4.81}]
chr3 GH03I046705 46705111 46705260 0.76 [{'connected_gene': 'TMIE', 'score': 0.39}, {'connected_gene': 'PRSS50', 'score': 0.39}]
chr3 GH03I046690 46690391 46697596 2.27 [{'connected_gene': 'ALS2CL', 'score': 567.82}, {'connected_gene': 'TMIE', 'score': 550.77}, {'connected_gene': 'PRSS50', 'score': 7.29}, {'connected_gene': 'LRRC2', 'score': 6.46}, {'connected_gene': 'PRSS45', 'score': 6.1}]
chr3 GH03I047016 47016125 47019975 1.13 [{'connected_gene': 'NBEAL2', 'score': 24.6}, {'connected_gene': 'PTH1R', 'score': 17.39}, {'connected_gene': 'CCDC12', 'score': 12.15}, {'connected_gene': 'MYL3', 'score': 10.83}, {'connected_gene': 'PRSS45', 'score': 5.07}, {'connected_gene': 'PRSS50', 'score': 5.05}, {'connected_gene': 'NRADDP', 'score': 0.44}, {'connected_gene': 'MRPL57P3', 'score': 0.39}, {'connected_gene': 'SETD2', 'score': 0.11}]