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
ENST00000524196 [[227057884, 227058206], [227058962, 227059105], [227063065, 227063251], [227069588, 227069671]] [[227069608, 227069671]]
ENST00000366783 [[227058263, 227058350], [227058962, 227059105], [227063065, 227063251], [227069588, 227069749], [227071405, 227071620], [227073238, 227073380], [227075791, 227075859], [227076529, 227076750], [227077735, 227077834], [227078978, 227079062], [227079443, 227079545], [227081707, 227081826], [227083124, 227083799]] [[227069608, 227069749], [227071405, 227071620], [227073238, 227073380], [227075791, 227075859], [227076529, 227076750], [227077735, 227077834], [227078978, 227079062], [227079443, 227079545], [227081707, 227081826], [227083124, 227083280]]
ENST00000340188 [[227058272, 227058350], [227058962, 227059105], [227063065, 227063251], [227069588, 227069749], [227071405, 227071620], [227073238, 227073380], [227075791, 227075859], [227076529, 227076750], [227078978, 227079062], [227079443, 227079545], [227081707, 227081826], [227083124, 227083806]] [[227069608, 227069749], [227071405, 227071620], [227073238, 227073380], [227075791, 227075859], [227076529, 227076750], [227078978, 227079062], [227079443, 227079545], [227081707, 227081826], [227083124, 227083280]]
ENST00000495488 [[227058316, 227058350], [227063065, 227063251], [227069588, 227069749], [227071405, 227071620], [227073238, 227073269]] [[227069608, 227069749], [227071405, 227071620], [227073238, 227073269]]
ENST00000422240 [[227058320, 227058350], [227058962, 227059105], [227063065, 227063251], [227069588, 227069749], [227071405, 227071620], [227073238, 227073380], [227075791, 227075859], [227076529, 227076750], [227077735, 227077834], [227078978, 227079062], [227079446, 227079545], [227081707, 227081826], [227083124, 227083504]] [[227069608, 227069749], [227071405, 227071620], [227073238, 227073380], [227075791, 227075859], [227076529, 227076750], [227077735, 227077834], [227078978, 227079062], [227079446, 227079545], [227081707, 227081826], [227083124, 227083280]]
ENST00000521431 [[227058563, 227059105], [227063065, 227063253]] None
ENST00000460775 [[227058964, 227059105], [227063065, 227063251], [227075791, 227075859], [227076529, 227076750], [227077735, 227077834], [227078978, 227079045]] [[227075812, 227075859], [227076529, 227076750], [227077735, 227077834], [227078978, 227079045]]
ENST00000366782 [[227058968, 227059105], [227063065, 227063251], [227068169, 227068425], [227069588, 227069749], [227071405, 227071620], [227073238, 227073380], [227075791, 227075859], [227076529, 227076750], [227077735, 227077834], [227078978, 227079062], [227079443, 227079545], [227081707, 227081826], [227083124, 227083799]] [[227068346, 227068425], [227069588, 227069749], [227071405, 227071620], [227073238, 227073380], [227075791, 227075859], [227076529, 227076750], [227077735, 227077834], [227078978, 227079062], [227079443, 227079545], [227081707, 227081826], [227083124, 227083280]]
ENST00000391872 [[227068346, 227068425], [227069588, 227069749], [227071405, 227071620], [227073238, 227073380], [227075791, 227075859], [227076529, 227076750], [227077735, 227077834], [227078978, 227079062], [227079443, 227079545], [227081707, 227081826], [227083124, 227083806]] [[227068346, 227068425], [227069588, 227069749], [227071405, 227071620], [227073238, 227073380], [227075791, 227075859], [227076529, 227076750], [227077735, 227077834], [227078978, 227079062], [227079443, 227079545], [227081707, 227081826], [227083124, 227083280]]
ENST00000496965 [[227069588, 227069749], [227071405, 227071620], [227073238, 227073380], [227075791, 227075859], [227076529, 227076750], [227077735, 227077834], [227078978, 227079062], [227079446, 227079550], [227081707, 227081826], [227083124, 227083232], [227083506, 227083799]] [[227069608, 227069749], [227071405, 227071620], [227073238, 227073380], [227075791, 227075859], [227076529, 227076750], [227077735, 227077834], [227078978, 227079062], [227079446, 227079550], [227081707, 227081716]]
ENST00000472139 [[227072323, 227072383], [227073238, 227073380], [227075791, 227075859], [227076529, 227076750], [227077735, 227077834], [227078978, 227079062], [227079443, 227079545], [227081707, 227081826], [227083124, 227083392]] [[227073314, 227073380], [227075791, 227075859], [227076529, 227076750], [227077735, 227077834], [227078978, 227079062], [227079443, 227079545], [227081707, 227081826], [227083124, 227083280]]
ENST00000487450 [[227078266, 227078666], [227078978, 227079066], [227079443, 227079521]] None
ENST00000471728 [[227078519, 227078666], [227078978, 227079062], [227079446, 227079545], [227081707, 227081826], [227083124, 227083245]] None
NM_012486 [[227058272, 227058350], [227058962, 227059105], [227063065, 227063251], [227069588, 227069749], [227071405, 227071620], [227073238, 227073380], [227075791, 227075859], [227076529, 227076750], [227077735, 227077834], [227078978, 227079062], [227079446, 227079545], [227081707, 227081826], [227083124, 227083804]] [[227069608, 227069749], [227071405, 227071620], [227073238, 227073380], [227075791, 227075859], [227076529, 227076750], [227077735, 227077834], [227078978, 227079062], [227079446, 227079545], [227081707, 227081826], [227083124, 227083280]]
NM_000447 [[227058272, 227058350], [227058962, 227059105], [227063065, 227063251], [227069588, 227069749], [227071405, 227071620], [227073238, 227073380], [227075791, 227075859], [227076529, 227076750], [227077735, 227077834], [227078978, 227079062], [227079443, 227079545], [227081707, 227081826], [227083124, 227083804]] [[227069608, 227069749], [227071405, 227071620], [227073238, 227073380], [227075791, 227075859], [227076529, 227076750], [227077735, 227077834], [227078978, 227079062], [227079443, 227079545], [227081707, 227081826], [227083124, 227083280]]
Promoter
Chrom Start End Description
chr1 227058289 227058331 CAGE_peak_1_at_PSEN2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I226632 226632647 226636089 1.09 [{'connected_gene': 'CDC42BPA', 'score': 25.89}, {'connected_gene': 'ZNF678', 'score': 22.85}, {'connected_gene': 'LINC01703', 'score': 16.61}, {'connected_gene': 'ITPKB', 'score': 11.6}, {'connected_gene': 'ITPKB-AS1', 'score': 11.45}, {'connected_gene': 'PSEN2', 'score': 10.07}, {'connected_gene': 'ENAH', 'score': 9.77}, {'connected_gene': 'STUM', 'score': 5.65}, {'connected_gene': 'GC01P226605', 'score': 0.31}]
chr1 GH01I227355 227355971 227358546 1.43 [{'connected_gene': 'CDC42BPA', 'score': 23.97}, {'connected_gene': 'LINC01641', 'score': 12.52}, {'connected_gene': 'PSEN2', 'score': 10.05}]
chr1 GH01I226786 226786440 226789335 0.67 [{'connected_gene': 'COQ8A', 'score': 15.15}, {'connected_gene': 'PSEN2', 'score': 13.05}, {'connected_gene': 'ITPKB', 'score': 11.45}, {'connected_gene': 'STUM', 'score': 10.34}, {'connected_gene': 'ITPKB-AS1', 'score': 10.09}, {'connected_gene': 'GC01M226757', 'score': 0.77}, {'connected_gene': 'GC01M226756', 'score': 0.77}, {'connected_gene': 'GC01P226812', 'score': 0.34}]
chr1 GH01I226964 226964959 226968498 0.56 [{'connected_gene': 'COQ8A', 'score': 11.94}, {'connected_gene': 'PSEN2', 'score': 5.0}, {'connected_gene': 'LOC105379282', 'score': 0.77}, {'connected_gene': 'ENSG00000228525', 'score': 0.44}, {'connected_gene': 'GC01M226920', 'score': 0.37}]
chr1 GH01I226863 226863200 226864219 0.66 [{'connected_gene': 'COQ8A', 'score': 10.93}, {'connected_gene': 'ITPKB', 'score': 10.42}, {'connected_gene': 'PSEN2', 'score': 5.9}, {'connected_gene': 'LOC105373119', 'score': 0.44}, {'connected_gene': 'GC01P226812', 'score': 0.23}]
chr1 GH01I226873 226873733 226876565 1.07 [{'connected_gene': 'PSEN2', 'score': 40.74}, {'connected_gene': 'COQ8A', 'score': 11.49}, {'connected_gene': 'CDC42BPA', 'score': 5.2}, {'connected_gene': 'LOC105373119', 'score': 0.77}]
chr1 GH01I226886 226886201 226886400 0.2 [{'connected_gene': 'PSEN2', 'score': 6.76}, {'connected_gene': 'COQ8A', 'score': 0.39}, {'connected_gene': 'LOC105373119', 'score': 0.37}]
chr1 GH01I226798 226798256 226801075 1.22 [{'connected_gene': 'PSEN2', 'score': 18.34}, {'connected_gene': 'COQ8A', 'score': 4.55}, {'connected_gene': 'GC01P226812', 'score': 0.39}, {'connected_gene': 'GC01M226757', 'score': 0.37}, {'connected_gene': 'GC01M226756', 'score': 0.37}]
chr1 GH01I226918 226918699 226922072 1 [{'connected_gene': 'PSEN2', 'score': 12.39}, {'connected_gene': 'COQ8A', 'score': 12.07}, {'connected_gene': 'GC01P226914', 'score': 0.44}, {'connected_gene': 'ENSG00000228525', 'score': 0.28}, {'connected_gene': 'GC01M226920', 'score': 0.21}]
chr1 GH01I226813 226813443 226817414 1.53 [{'connected_gene': 'PSEN2', 'score': 39.46}, {'connected_gene': 'ITPKB', 'score': 12.08}, {'connected_gene': 'STUM', 'score': 10.6}, {'connected_gene': 'COQ8A', 'score': 10.12}, {'connected_gene': 'GC01P226812', 'score': 0.44}]
chr1 GH01I226725 226725517 226728629 1.12 [{'connected_gene': 'PSEN2', 'score': 8.48}, {'connected_gene': 'GC01M226732', 'score': 0.44}, {'connected_gene': 'ITPKB', 'score': 0.39}, {'connected_gene': 'LOC105373117', 'score': 0.31}]
chr1 GH01I226729 226729787 226735296 1.19 [{'connected_gene': 'PSEN2', 'score': 9.46}, {'connected_gene': 'GC01M226732', 'score': 0.77}, {'connected_gene': 'GC01M226733', 'score': 0.44}, {'connected_gene': 'ITPKB', 'score': 0.44}, {'connected_gene': 'LOC105373117', 'score': 0.29}]
chr1 GH01I226881 226881658 226884752 0.88 [{'connected_gene': 'PSEN2', 'score': 39.79}, {'connected_gene': 'ZNF678', 'score': 16.84}, {'connected_gene': 'ITPKB', 'score': 10.47}, {'connected_gene': 'LOC105373119', 'score': 0.39}, {'connected_gene': 'COQ8A', 'score': 0.39}]
chr1 GH01I226869 226869887 226873396 1.98 [{'connected_gene': 'PSEN2', 'score': 590.95}, {'connected_gene': 'LOC105373119', 'score': 550.77}, {'connected_gene': 'COQ8A', 'score': 11.46}]
chr1 GH01I226824 226824633 226825687 0.64 [{'connected_gene': 'PSEN2', 'score': 16.88}, {'connected_gene': 'GC01P226812', 'score': 0.39}]
chr1 GH01I226826 226826869 226829223 1.58 [{'connected_gene': 'PSEN2', 'score': 38.97}, {'connected_gene': 'GC01P226812', 'score': 0.37}]
chr1 GH01I226819 226819085 226823017 1.54 [{'connected_gene': 'PSEN2', 'score': 38.47}, {'connected_gene': 'GC01P226812', 'score': 0.39}]
chr1 GH01I226425 226425129 226426030 0.87 [{'connected_gene': 'STUM', 'score': 10.51}, {'connected_gene': 'LIN9', 'score': 9.79}, {'connected_gene': 'PARP1', 'score': 7.29}, {'connected_gene': 'PSEN2', 'score': 4.54}, {'connected_gene': 'RPS3AP7', 'score': 0.39}, {'connected_gene': 'ENSG00000270287', 'score': 0.39}]
chr1 GH01I226735 226735363 226741525 1.87 [{'connected_gene': 'ITPKB', 'score': 561.79}, {'connected_gene': 'GC01M226733', 'score': 550.77}, {'connected_gene': 'ZNF678', 'score': 12.48}, {'connected_gene': 'ACBD3-AS1', 'score': 12.02}, {'connected_gene': 'ACBD3', 'score': 11.13}, {'connected_gene': 'PSEN2', 'score': 7.06}]
chr1 GH01I226695 226695640 226699381 1.4 [{'connected_gene': 'ITPKB', 'score': 17.44}, {'connected_gene': 'H3F3A', 'score': 4.21}, {'connected_gene': 'PSEN2', 'score': 4.08}, {'connected_gene': 'LOC105373117', 'score': 0.77}, {'connected_gene': 'ITPKB-IT1', 'score': 0.34}]
chr1 GH01I226763 226763382 226765561 0.98 [{'connected_gene': 'ZNF678', 'score': 15.27}, {'connected_gene': 'ACBD3', 'score': 11.46}, {'connected_gene': 'PSEN2', 'score': 5.21}, {'connected_gene': 'GC01M226755', 'score': 0.37}, {'connected_gene': 'RPS27P5', 'score': 0.37}, {'connected_gene': 'GC01M226757', 'score': 0.37}, {'connected_gene': 'GC01M226756', 'score': 0.37}, {'connected_gene': 'ITPKB', 'score': 0.31}]
chr1 GH01I226722 226722517 226724813 1.58 [{'connected_gene': 'ZNF678', 'score': 14.54}, {'connected_gene': 'PSEN2', 'score': 6.06}, {'connected_gene': 'ITPKB', 'score': 3.59}, {'connected_gene': 'GC01M226732', 'score': 0.39}, {'connected_gene': 'LOC105373117', 'score': 0.34}]
chr1 GH01I226651 226651713 226668199 1.68 [{'connected_gene': 'ZNF678', 'score': 38.1}, {'connected_gene': 'ITPKB', 'score': 27.99}, {'connected_gene': 'ACBD3', 'score': 11.72}, {'connected_gene': 'CDC42BPA', 'score': 10.49}, {'connected_gene': 'STUM', 'score': 5.99}, {'connected_gene': 'PSEN2', 'score': 4.46}, {'connected_gene': 'ITPKB-AS1', 'score': 0.44}, {'connected_gene': 'ITPKB-IT1', 'score': 0.37}, {'connected_gene': 'GC01P226605', 'score': 0.23}]
chr1 GH01I226948 226948725 226952400 0.72 [{'connected_gene': 'H3F3A', 'score': 11.04}, {'connected_gene': 'SDE2', 'score': 10.82}, {'connected_gene': 'ACBD3-AS1', 'score': 10.76}, {'connected_gene': 'ACBD3', 'score': 10.31}, {'connected_gene': 'PSEN2', 'score': 6.05}, {'connected_gene': 'CDC42BPA', 'score': 5.66}, {'connected_gene': 'ENSG00000228525', 'score': 0.44}, {'connected_gene': 'GC01M226920', 'score': 0.29}, {'connected_gene': 'GC01P226914', 'score': 0.28}, {'connected_gene': 'COQ8A', 'score': 0.23}]
chr1 GH01I226402 226402301 226408949 2.34 [{'connected_gene': 'PARP1', 'score': 564.29}, {'connected_gene': 'CDC42BPA', 'score': 16.73}, {'connected_gene': 'ACBD3-AS1', 'score': 11.83}, {'connected_gene': 'LINC01703', 'score': 11.56}, {'connected_gene': 'STUM', 'score': 10.14}, {'connected_gene': 'MIXL1', 'score': 10.04}, {'connected_gene': 'ACBD3', 'score': 9.73}, {'connected_gene': 'PSEN2', 'score': 3.54}, {'connected_gene': 'LOC101060016', 'score': 0.19}]
chr1 GH01I226442 226442998 226444284 0.56 [{'connected_gene': 'PARP1', 'score': 10.77}, {'connected_gene': 'PSEN2', 'score': 4.42}, {'connected_gene': 'RN7SKP165', 'score': 0.77}, {'connected_gene': 'RPS3AP7', 'score': 0.44}]
chr1 GH01I226748 226748753 226750212 0.43 [{'connected_gene': 'ITPKB-AS1', 'score': 10.64}, {'connected_gene': 'PSEN2', 'score': 5.09}, {'connected_gene': 'ITPKB', 'score': 0.39}, {'connected_gene': 'RPS27P5', 'score': 0.29}]
chr1 GH01I227431 227431319 227432775 1.42 [{'connected_gene': 'RPS18P3', 'score': 550.77}, {'connected_gene': 'BTF3P9', 'score': 550.77}, {'connected_gene': 'CICP26', 'score': 90.69}, {'connected_gene': 'ZNF678', 'score': 79.98}, {'connected_gene': 'C1orf35', 'score': 67.76}, {'connected_gene': 'CDC42BPA', 'score': 46.23}, {'connected_gene': 'ENSG00000269890', 'score': 41.18}, {'connected_gene': 'JMJD4', 'score': 19.21}, {'connected_gene': 'HIST3H3', 'score': 10.77}, {'connected_gene': 'PSEN2', 'score': 10.03}, {'connected_gene': 'LINC01641', 'score': 4.32}]
chr1 GH01I226810 226810036 226810884 0.67 [{'connected_gene': 'GC01P226812', 'score': 550.77}, {'connected_gene': 'ITPKB', 'score': 14.19}, {'connected_gene': 'COQ8A', 'score': 10.07}, {'connected_gene': 'PSEN2', 'score': 6.57}, {'connected_gene': 'STUM', 'score': 3.6}]
chr1 GH01I226783 226783907 226784505 0.86 [{'connected_gene': 'GC01M226755', 'score': 550.77}, {'connected_gene': 'GC01M226757', 'score': 550.77}, {'connected_gene': 'GC01M226756', 'score': 550.77}, {'connected_gene': 'ITPKB', 'score': 11.8}, {'connected_gene': 'PSEN2', 'score': 10.4}, {'connected_gene': 'GC01P226812', 'score': 0.31}]

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