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
ENST00000395514 [[55308725, 55309772], [55310718, 55310861], [55312485, 55312570], [55313816, 55313848], [55326398, 55326454], [55332044, 55332154], [55369038, 55369542]] [[55310734, 55310861], [55312485, 55312570], [55313816, 55313848], [55326398, 55326454], [55332044, 55332154], [55369038, 55369381]]
ENST00000543643 [[55308733, 55309772], [55310499, 55310587], [55312485, 55312570], [55313816, 55313848], [55326398, 55326454], [55332044, 55332154], [55369038, 55369525]] [[55310511, 55310587], [55312485, 55312570], [55313816, 55313848], [55326398, 55326454], [55332044, 55332154], [55369038, 55369381]]
ENST00000491895 [[55308733, 55310861], [55312485, 55312570], [55313816, 55313848], [55326398, 55326454], [55332044, 55332154], [55369038, 55369570]] [[55310734, 55310861], [55312485, 55312570], [55313816, 55313848], [55326398, 55326454], [55332044, 55332154], [55369038, 55369381]]
ENST00000254299 [[55308734, 55310861], [55312485, 55312570], [55313816, 55313848], [55326398, 55326454], [55332044, 55332154], [55369038, 55369529]] None
ENST00000536224 [[55308746, 55309772], [55312485, 55312570], [55313816, 55313848], [55326398, 55326454], [55332044, 55332154], [55369038, 55369534]] [[55309756, 55309772], [55312485, 55312570], [55313816, 55313848], [55326398, 55326454], [55332044, 55332154], [55369038, 55369381]]
ENST00000395521 [[55309713, 55309772], [55326398, 55326454], [55332044, 55332154], [55369038, 55369164]] None
NM_000161 [[55308722, 55310861], [55312485, 55312570], [55313816, 55313848], [55326398, 55326454], [55332044, 55332154], [55369038, 55369542]] [[55310734, 55310861], [55312485, 55312570], [55313816, 55313848], [55326398, 55326454], [55332044, 55332154], [55369038, 55369381]]
NM_001024024 [[55308722, 55309772], [55310718, 55310861], [55312485, 55312570], [55313816, 55313848], [55326398, 55326454], [55332044, 55332154], [55369038, 55369542]] [[55310734, 55310861], [55312485, 55312570], [55313816, 55313848], [55326398, 55326454], [55332044, 55332154], [55369038, 55369381]]
NM_001024070 [[55308722, 55309772], [55310499, 55310587], [55312485, 55312570], [55313816, 55313848], [55326398, 55326454], [55332044, 55332154], [55369038, 55369542]] [[55310511, 55310587], [55312485, 55312570], [55313816, 55313848], [55326398, 55326454], [55332044, 55332154], [55369038, 55369381]]
NM_001024071 [[55308722, 55309772], [55312485, 55312570], [55313816, 55313848], [55326398, 55326454], [55332044, 55332154], [55369038, 55369542]] [[55309756, 55309772], [55312485, 55312570], [55313816, 55313848], [55326398, 55326454], [55332044, 55332154], [55369038, 55369381]]
Promoter
Chrom Start End Description
chr14 55369533 55369551 CAGE_peak_1_at_GCH1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I055097 55097057 55109751 1.83 [{'connected_gene': 'LGALS3', 'score': 40.72}, {'connected_gene': 'LOC105370509', 'score': 34.62}, {'connected_gene': 'MAPK1IP1L', 'score': 25.39}, {'connected_gene': 'ATG14', 'score': 16.8}, {'connected_gene': 'SOCS4', 'score': 13.23}, {'connected_gene': 'GCH1', 'score': 12.33}, {'connected_gene': 'DLGAP5', 'score': 11.3}, {'connected_gene': 'FBXO34', 'score': 8.13}, {'connected_gene': 'ENSG00000259318', 'score': 5.61}, {'connected_gene': 'GC14M055058', 'score': 0.26}, {'connected_gene': 'GC14M055059', 'score': 0.26}, {'connected_gene': 'GC14M054989', 'score': 0.04}]
chr14 GH14I055113 55113140 55134826 2.73 [{'connected_gene': 'LGALS3', 'score': 578.57}, {'connected_gene': 'LOC105370509', 'score': 40.15}, {'connected_gene': 'GCH1', 'score': 11.0}, {'connected_gene': 'FBXO34', 'score': 10.91}, {'connected_gene': 'DLGAP5', 'score': 10.77}, {'connected_gene': 'ATG14', 'score': 6.91}, {'connected_gene': 'ENSG00000259318', 'score': 5.86}, {'connected_gene': 'MAPK1IP1L', 'score': 3.36}, {'connected_gene': 'GC14M055058', 'score': 0.21}, {'connected_gene': 'GC14M055059', 'score': 0.21}, {'connected_gene': 'GC14M054989', 'score': 0.05}]
chr14 GH14I054900 54900413 54903631 2.01 [{'connected_gene': 'GCH1', 'score': 567.14}, {'connected_gene': 'GC14P054902', 'score': 550.77}, {'connected_gene': 'MAPK1IP1L', 'score': 22.12}, {'connected_gene': 'BMP4', 'score': 10.65}, {'connected_gene': 'ATG14', 'score': 9.85}, {'connected_gene': 'FDPSP3', 'score': 0.37}]
chr14 GH14I054848 54848034 54848155 0.24 [{'connected_gene': 'GCH1', 'score': 8.1}, {'connected_gene': 'MAPK1IP1L', 'score': 2.57}, {'connected_gene': 'FBXO34', 'score': 2.29}, {'connected_gene': 'LGALS3', 'score': 2.12}, {'connected_gene': 'GMFB', 'score': 1.94}, {'connected_gene': 'GC14P054860', 'score': 0.39}, {'connected_gene': 'PIR45415', 'score': 0.2}]
chr14 GH14I054746 54746022 54747270 0.38 [{'connected_gene': 'GCH1', 'score': 4.3}, {'connected_gene': 'PIR45415', 'score': 0.29}, {'connected_gene': 'LOC729451', 'score': 0.22}, {'connected_gene': 'SAMD4A', 'score': 0.1}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14 GH14I054764 54764593 54770897 0.63 [{'connected_gene': 'GCH1', 'score': 6.08}, {'connected_gene': 'PIR45415', 'score': 0.39}, {'connected_gene': 'LOC729451', 'score': 0.18}, {'connected_gene': 'SAMD4A', 'score': 0.08}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14 GH14I054748 54748747 54749584 0.2 [{'connected_gene': 'GCH1', 'score': 4.46}, {'connected_gene': 'PIR45415', 'score': 0.31}, {'connected_gene': 'LOC729451', 'score': 0.21}, {'connected_gene': 'SAMD4A', 'score': 0.09}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14 GH14I055265 55265254 55265580 0.84 [{'connected_gene': 'GCH1', 'score': 11.11}, {'connected_gene': 'FBXO34', 'score': 8.4}, {'connected_gene': 'LGALS3', 'score': 2.38}, {'connected_gene': 'MAPK1IP1L', 'score': 1.86}, {'connected_gene': 'LOC105370509', 'score': 0.44}, {'connected_gene': 'COX5AP1', 'score': 0.34}, {'connected_gene': 'GC14M054989', 'score': 0.06}]
chr14 GH14I054624 54624898 54629489 1.36 [{'connected_gene': 'GCH1', 'score': 5.0}, {'connected_gene': 'GMFB', 'score': 2.81}, {'connected_gene': 'MAPK1IP1L', 'score': 1.21}, {'connected_gene': 'SAMD4A', 'score': 0.21}, {'connected_gene': 'LOC729451', 'score': 0.21}, {'connected_gene': 'GC14P054145', 'score': 0.04}]
chr14 GH14I054502 54502686 54502963 0.73 [{'connected_gene': 'GCH1', 'score': 10.06}, {'connected_gene': 'GMFB', 'score': 8.77}, {'connected_gene': 'CGRRF1', 'score': 2.17}, {'connected_gene': 'GC14P054145', 'score': 0.05}]
chr14 GH14I054908 54908102 54908771 0.9 [{'connected_gene': 'GCH1', 'score': 12.62}, {'connected_gene': 'ATG14', 'score': 4.82}, {'connected_gene': 'GMFB', 'score': 4.31}, {'connected_gene': 'LGALS3', 'score': 2.72}, {'connected_gene': 'FBXO34', 'score': 2.33}, {'connected_gene': 'MAPK1IP1L', 'score': 1.66}, {'connected_gene': 'GC14P054912', 'score': 0.77}]
chr14 GH14I054880 54880869 54883076 0.89 [{'connected_gene': 'GCH1', 'score': 13.54}, {'connected_gene': 'ATG14', 'score': 7.31}, {'connected_gene': 'FDPSP3', 'score': 0.77}, {'connected_gene': 'MIR4308', 'score': 0.77}]
chr14 GH14I054837 54837375 54840153 0.91 [{'connected_gene': 'GCH1', 'score': 8.95}, {'connected_gene': 'SOCS4', 'score': 4.76}, {'connected_gene': 'ENSG00000259318', 'score': 4.51}, {'connected_gene': 'GC14P054860', 'score': 0.34}, {'connected_gene': 'PIR45415', 'score': 0.21}]
chr14 GH14I054942 54942801 54943200 0.43 [{'connected_gene': 'GCH1', 'score': 11.15}, {'connected_gene': 'GC14P054925', 'score': 0.37}, {'connected_gene': 'GC14M055005', 'score': 0.21}, {'connected_gene': 'WDHD1', 'score': 0.18}]
chr14 GH14I054890 54890787 54891986 0.59 [{'connected_gene': 'GCH1', 'score': 16.91}, {'connected_gene': 'RNU6ATAC9P', 'score': 11.79}, {'connected_gene': 'FDPSP3', 'score': 0.44}, {'connected_gene': 'GC14P054902', 'score': 0.39}]
chr14 GH14I054892 54892823 54893007 0.31 [{'connected_gene': 'GCH1', 'score': 16.33}, {'connected_gene': 'RNU6ATAC9P', 'score': 11.79}, {'connected_gene': 'GC14P054902', 'score': 0.44}, {'connected_gene': 'FDPSP3', 'score': 0.44}]
chr14 GH14I054771 54771314 54777447 1.65 [{'connected_gene': 'GCH1', 'score': 6.85}, {'connected_gene': 'CNIH1', 'score': 4.61}, {'connected_gene': 'PIR45415', 'score': 0.77}, {'connected_gene': 'LOC729451', 'score': 0.17}, {'connected_gene': 'SAMD4A', 'score': 0.08}]
chr14 GH14I054450 54450039 54452417 1.19 [{'connected_gene': 'GCH1', 'score': 7.78}, {'connected_gene': 'CNIH1', 'score': 5.56}, {'connected_gene': 'GMFB', 'score': 4.27}, {'connected_gene': 'CGRRF1', 'score': 1.89}, {'connected_gene': 'ENSG00000258753', 'score': 0.37}, {'connected_gene': 'GC14P054145', 'score': 0.06}]
chr14 GH14I054870 54870202 54871200 1.11 [{'connected_gene': 'GCH1', 'score': 28.81}, {'connected_gene': 'MIR4308', 'score': 0.44}, {'connected_gene': 'RNU6ATAC9P', 'score': 0.39}]
chr14 GH14I054782 54782401 54786078 1.37 [{'connected_gene': 'SAMD4A', 'score': 11.58}, {'connected_gene': 'GCH1', 'score': 10.07}, {'connected_gene': 'WDHD1', 'score': 4.17}, {'connected_gene': 'GMFB', 'score': 3.02}, {'connected_gene': 'FBXO34', 'score': 2.38}, {'connected_gene': 'LGALS3', 'score': 2.23}, {'connected_gene': 'MAPK1IP1L', 'score': 1.26}, {'connected_gene': 'PIR45415', 'score': 0.44}, {'connected_gene': 'GC14P054860', 'score': 0.19}]
chr14 GH14I054786 54786803 54788673 0.2 [{'connected_gene': 'SAMD4A', 'score': 11.58}, {'connected_gene': 'GCH1', 'score': 6.02}, {'connected_gene': 'WDHD1', 'score': 4.44}, {'connected_gene': 'PIR45415', 'score': 0.44}, {'connected_gene': 'GC14P054860', 'score': 0.19}]
chr14 GH14I054779 54779751 54782286 0.31 [{'connected_gene': 'SAMD4A', 'score': 11.58}, {'connected_gene': 'GCH1', 'score': 5.77}, {'connected_gene': 'PIR45415', 'score': 0.77}, {'connected_gene': 'GC14P054860', 'score': 0.18}]
chr14 GH14I054815 54815147 54815310 0.23 [{'connected_gene': 'SAMD4A', 'score': 11.08}, {'connected_gene': 'GCH1', 'score': 10.38}, {'connected_gene': 'PIR45415', 'score': 0.28}, {'connected_gene': 'GC14P054860', 'score': 0.26}]
chr14 GH14I054716 54716752 54717304 0.2 [{'connected_gene': 'SAMD4A', 'score': 12.28}, {'connected_gene': 'CGRRF1', 'score': 10.16}, {'connected_gene': 'GCH1', 'score': 9.57}, {'connected_gene': 'LOC729451', 'score': 0.31}, {'connected_gene': 'PIR45415', 'score': 0.21}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14 GH14I054717 54717643 54719758 0.89 [{'connected_gene': 'SAMD4A', 'score': 12.27}, {'connected_gene': 'CGRRF1', 'score': 10.16}, {'connected_gene': 'GCH1', 'score': 9.57}, {'connected_gene': 'LOC729451', 'score': 0.29}, {'connected_gene': 'PIR45415', 'score': 0.22}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14 GH14I054715 54715910 54716470 0.31 [{'connected_gene': 'SAMD4A', 'score': 12.28}, {'connected_gene': 'CGRRF1', 'score': 10.16}, {'connected_gene': 'GCH1', 'score': 9.57}, {'connected_gene': 'LOC729451', 'score': 0.31}, {'connected_gene': 'PIR45415', 'score': 0.21}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14 GH14I054714 54714383 54714887 0.2 [{'connected_gene': 'SAMD4A', 'score': 12.28}, {'connected_gene': 'CGRRF1', 'score': 10.16}, {'connected_gene': 'GCH1', 'score': 9.57}, {'connected_gene': 'LOC729451', 'score': 0.31}, {'connected_gene': 'PIR45415', 'score': 0.21}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14 GH14I054843 54843368 54846276 0.63 [{'connected_gene': 'SOCS4', 'score': 4.78}, {'connected_gene': 'GCH1', 'score': 4.77}, {'connected_gene': 'GC14P054860', 'score': 0.39}, {'connected_gene': 'PIR45415', 'score': 0.2}]
chr14 GH14I054605 54605502 54607462 0.83 [{'connected_gene': 'CGRRF1', 'score': 11.24}, {'connected_gene': 'GCH1', 'score': 10.18}, {'connected_gene': 'SAMD4A', 'score': 0.28}, {'connected_gene': 'LOC729451', 'score': 0.18}, {'connected_gene': 'GC14P054145', 'score': 0.04}]
chr14 GH14I054818 54818055 54819420 0.89 [{'connected_gene': 'CGRRF1', 'score': 20.79}, {'connected_gene': 'GCH1', 'score': 16.66}, {'connected_gene': 'RNU6ATAC9P', 'score': 12.36}, {'connected_gene': 'ATG14', 'score': 5.81}, {'connected_gene': 'GC14P054860', 'score': 0.26}, {'connected_gene': 'PIR45415', 'score': 0.26}]
chr14 GH14I054711 54711363 54714152 0.83 [{'connected_gene': 'CGRRF1', 'score': 20.15}, {'connected_gene': 'SAMD4A', 'score': 12.28}, {'connected_gene': 'GCH1', 'score': 10.24}, {'connected_gene': 'LOC729451', 'score': 0.34}, {'connected_gene': 'PIR45415', 'score': 0.2}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14 GH14I054893 54893263 54893472 0.57 [{'connected_gene': 'RNU6ATAC9P', 'score': 11.79}, {'connected_gene': 'ATG14', 'score': 4.82}, {'connected_gene': 'GC14P054902', 'score': 0.44}, {'connected_gene': 'GCH1', 'score': 0.44}, {'connected_gene': 'FDPSP3', 'score': 0.44}]
chr14 GH14I054857 54857700 54858632 0.76 [{'connected_gene': 'RNU6ATAC9P', 'score': 550.77}, {'connected_gene': 'GC14P054860', 'score': 550.77}, {'connected_gene': 'ATG14', 'score': 5.8}, {'connected_gene': 'GCH1', 'score': 0.26}, {'connected_gene': 'PIR45415', 'score': 0.18}]
chr14 GH14I054889 54889460 54889942 0.46 [{'connected_gene': 'RNU6ATAC9P', 'score': 11.79}, {'connected_gene': 'FDPSP3', 'score': 0.77}, {'connected_gene': 'GC14P054902', 'score': 0.39}, {'connected_gene': 'GCH1', 'score': 0.39}]
chr14 GH14I055301 55301202 55305399 1.2 [{'connected_gene': 'LOC105370509', 'score': 43.57}, {'connected_gene': 'FBXO34', 'score': 12.68}, {'connected_gene': 'ENSG00000259318', 'score': 5.56}, {'connected_gene': 'GCH1', 'score': 5.11}, {'connected_gene': 'LGALS3', 'score': 3.16}, {'connected_gene': 'MAPK1IP1L', 'score': 2.52}, {'connected_gene': 'CHMP4BP1', 'score': 0.77}, {'connected_gene': 'ENSG00000258455', 'score': 0.28}, {'connected_gene': 'GC14M054989', 'score': 0.06}]
chr14 GH14I055190 55189294 55192408 1.99 [{'connected_gene': 'LOC105370508', 'score': 550.77}, {'connected_gene': 'DLGAP5', 'score': 550.77}, {'connected_gene': 'MAPK1IP1L', 'score': 30.32}, {'connected_gene': 'LOC105370509', 'score': 13.12}, {'connected_gene': 'ATG14', 'score': 12.4}, {'connected_gene': 'GCH1', 'score': 4.85}, {'connected_gene': 'LGALS3', 'score': 0.2}, {'connected_gene': 'GC14M054989', 'score': 0.05}]
chr14 GH14I054876 54876570 54878143 0.72 [{'connected_gene': 'MIR4308', 'score': 550.77}, {'connected_gene': 'GCH1', 'score': 14.37}, {'connected_gene': 'RNU6ATAC9P', 'score': 0.37}]
chr14 GH14I055299 55299221 55299570 0.22 [{'connected_gene': 'CHMP4BP1', 'score': 550.77}, {'connected_gene': 'LOC105370509', 'score': 13.96}, {'connected_gene': 'GCH1', 'score': 1.45}, {'connected_gene': 'FBXO34', 'score': 0.31}, {'connected_gene': 'ENSG00000258455', 'score': 0.26}, {'connected_gene': 'GC14M054989', 'score': 0.06}]
chr14 GH14I054777 54777926 54779440 0.6 [{'connected_gene': 'PIR45415', 'score': 550.77}, {'connected_gene': 'GCH1', 'score': 5.4}, {'connected_gene': 'GC14P054860', 'score': 0.18}, {'connected_gene': 'SAMD4A', 'score': 0.08}]

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