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
ENST00000473343 [[6521210, 6521822], [6522053, 6522234], [6522688, 6522726], [6522922, 6523682]] None
ENST00000513135 [[6521210, 6521822], [6522053, 6522234], [6522688, 6522726], [6522922, 6524779], [6525147, 6525282], [6525499, 6526159]] None
ENST00000480393 [[6521210, 6521822], [6522053, 6522234], [6522688, 6522726], [6522922, 6523187], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526235]] [[6522967, 6523187], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526167]]
ENST00000377782 [[6521210, 6521822], [6522053, 6522234], [6522688, 6522726], [6522922, 6523030], [6523124, 6523207], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526235]] [[6521493, 6521822], [6522053, 6522234], [6522688, 6522726], [6522922, 6523030], [6523124, 6523207], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526167]]
ENST00000485036 [[6521210, 6521822], [6522053, 6522234], [6522688, 6522726], [6522922, 6523207], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526235]] [[6522719, 6522726], [6522922, 6523207], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526167]]
ENST00000356876 [[6521210, 6521822], [6522053, 6522234], [6522688, 6522726], [6522922, 6523030], [6523131, 6523187], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526255]] [[6521493, 6521822], [6522053, 6522234], [6522688, 6522726], [6522922, 6523030], [6523131, 6523187], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526167]]
ENST00000351959 [[6521263, 6521822], [6522053, 6522234], [6522688, 6522723], [6523131, 6523187], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526235]] [[6521493, 6521822], [6522053, 6522234], [6522688, 6522723], [6523131, 6523187], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526167]]
ENST00000351748 [[6521493, 6521822], [6522053, 6522234], [6522688, 6522723], [6525499, 6525620], [6526128, 6526167]] [[6521493, 6521822], [6522053, 6522234], [6522688, 6522723], [6525499, 6525620], [6526128, 6526167]]
ENST00000502730 [[6521493, 6521822], [6522053, 6522234], [6524611, 6524779], [6525499, 6525620], [6526128, 6526167]] [[6522181, 6522234], [6524611, 6524779], [6525499, 6525620], [6526128, 6526167]]
ENST00000348333 [[6521493, 6521822], [6522053, 6522234], [6522688, 6522726], [6522922, 6523030], [6523131, 6523187], [6524434, 6524513], [6524611, 6524779], [6525499, 6525620], [6526128, 6526167]] [[6521493, 6521822], [6522053, 6522234], [6522688, 6522726], [6522922, 6523030], [6523131, 6523187], [6524434, 6524513], [6524611, 6524779], [6525499, 6525620], [6526128, 6526167]]
ENST00000414040 [[6521493, 6521822], [6522053, 6522234], [6522688, 6522726], [6522922, 6523030], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526167]] [[6522719, 6522726], [6522922, 6523030], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526167]]
ENST00000502588 [[6521493, 6521822], [6522053, 6522234], [6522688, 6522723], [6524434, 6524513], [6524611, 6524779], [6525499, 6525620], [6526128, 6526167]] [[6522719, 6522723], [6524434, 6524513], [6524611, 6524779], [6525499, 6525620], [6526128, 6526167]]
ENST00000510563 [[6521493, 6521822], [6522053, 6522234], [6522688, 6522723], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526167]] [[6522719, 6522723], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526167]]
ENST00000453260 [[6521539, 6521822], [6522053, 6522234], [6522688, 6522723], [6522922, 6523407]] None
ENST00000475730 [[6521815, 6521822], [6522053, 6522234], [6522378, 6522667]] None
ENST00000469691 [[6522053, 6522234], [6522688, 6522726], [6522922, 6523016], [6523131, 6523187], [6524434, 6524513], [6524611, 6524779], [6525147, 6525332]] None
ENST00000481401 [[6522696, 6522723], [6522922, 6523030], [6523131, 6523187], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525690]] [[6522696, 6522723], [6522922, 6523030], [6523131, 6523132]]
ENST00000461703 [[6523595, 6523620], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526167]] None
ENST00000453341 [[6524170, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526159]] None
ENST00000515145 [[6524626, 6524779], [6525499, 6525918]] None
NM_148965 [[6521210, 6521822], [6522053, 6522234], [6522688, 6522726], [6522922, 6523030], [6523124, 6523207], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526255]] [[6521493, 6521822], [6522053, 6522234], [6522688, 6522726], [6522922, 6523030], [6523124, 6523207], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526167]]
NM_003790 [[6521210, 6521822], [6522053, 6522234], [6522688, 6522726], [6522922, 6523030], [6523131, 6523187], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526255]] [[6521493, 6521822], [6522053, 6522234], [6522688, 6522726], [6522922, 6523030], [6523131, 6523187], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526167]]
NM_148966 [[6521210, 6521822], [6522053, 6522234], [6522688, 6522723], [6523131, 6523187], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526255]] [[6521493, 6521822], [6522053, 6522234], [6522688, 6522723], [6523131, 6523187], [6524434, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526167]]
NM_148967 [[6521210, 6521822], [6522053, 6522234], [6522688, 6522726], [6522922, 6523030], [6523131, 6523187], [6524434, 6524513], [6524611, 6524779], [6525499, 6525620], [6526128, 6526255]] [[6521493, 6521822], [6522053, 6522234], [6522688, 6522726], [6522922, 6523030], [6523131, 6523187], [6524434, 6524513], [6524611, 6524779], [6525499, 6525620], [6526128, 6526167]]
NM_148970 [[6521210, 6521822], [6522053, 6522234], [6522688, 6522723], [6525499, 6525620], [6526128, 6526255]] [[6521493, 6521822], [6522053, 6522234], [6522688, 6522723], [6525499, 6525620], [6526128, 6526167]]
NM_001039664 [[6524170, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526255]] [[6524430, 6524513], [6524611, 6524779], [6525147, 6525282], [6525499, 6525620], [6526128, 6526167]]
Promoter
Chrom Start End Description
chr1 6526182 6526189 CAGE_peak_2_at_TNFRSF25_5end
chr1 6526192 6526250 CAGE_peak_1_at_TNFRSF25_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I006464 6464121 6466720 1.55 [{'connected_gene': 'TNFRSF25', 'score': 550.77}, {'connected_gene': 'ESPN', 'score': 14.32}, {'connected_gene': 'ENSG00000231868', 'score': 0.37}, {'connected_gene': 'PLEKHG5', 'score': 0.23}]
chr1 GH01I006482 6482893 6483739 0.63 [{'connected_gene': 'TNFRSF25', 'score': 0.37}, {'connected_gene': 'PLEKHG5', 'score': 0.28}]
chr1 GH01I006024 6024700 6030017 2.46 [{'connected_gene': 'KCNAB2', 'score': 565.66}, {'connected_gene': 'NPHP4', 'score': 5.55}, {'connected_gene': 'TNFRSF25', 'score': 3.11}, {'connected_gene': 'GC01M006038', 'score': 0.39}]
chr1 GH01I006475 6475601 6477833 1.02 [{'connected_gene': 'ESPN', 'score': 10.07}, {'connected_gene': 'TNFRSF25', 'score': 0.39}, {'connected_gene': 'PLEKHG5', 'score': 0.26}]
chr1 GH01I006470 6470328 6473889 1.16 [{'connected_gene': 'ESPN', 'score': 10.37}, {'connected_gene': 'TNFRSF25', 'score': 0.44}, {'connected_gene': 'PLEKHG5', 'score': 0.25}]
chr1 GH01I006459 6459440 6462159 0.94 [{'connected_gene': 'ESPN', 'score': 12.49}, {'connected_gene': 'TNFRSF25', 'score': 0.44}, {'connected_gene': 'ENSG00000231868', 'score': 0.39}]
chr1 GH01I006487 6487571 6493544 2.42 [{'connected_gene': 'PLEKHG5', 'score': 599.25}, {'connected_gene': 'THAP3', 'score': 22.14}, {'connected_gene': 'TNFRSF25', 'score': 20.8}, {'connected_gene': 'NOL9', 'score': 13.57}, {'connected_gene': 'KLHL21', 'score': 10.64}, {'connected_gene': 'PHF13', 'score': 10.64}, {'connected_gene': 'ESPN', 'score': 7.18}]
chr1 GH01I006485 6485000 6487190 2.09 [{'connected_gene': 'PLEKHG5', 'score': 581.39}, {'connected_gene': 'THAP3', 'score': 13.19}, {'connected_gene': 'NOL9', 'score': 10.94}, {'connected_gene': 'ESPN', 'score': 8.32}, {'connected_gene': 'TNFRSF25', 'score': 0.37}]
chr1 GH01I006511 6511865 6514499 0.9 [{'connected_gene': 'PLEKHG5', 'score': 13.5}, {'connected_gene': 'TNFRSF25', 'score': 0.25}]
chr1 GH01I006506 6506263 6506534 0.39 [{'connected_gene': 'PLEKHG5', 'score': 0.39}, {'connected_gene': 'TNFRSF25', 'score': 0.26}]
chr1 GH01I006507 6507401 6507600 0.63 [{'connected_gene': 'PLEKHG5', 'score': 0.39}, {'connected_gene': 'TNFRSF25', 'score': 0.26}]
chr1 GH01I006509 6509401 6510200 0.88 [{'connected_gene': 'PLEKHG5', 'score': 8.41}, {'connected_gene': 'TNFRSF25', 'score': 0.26}]
chr1 GH01I006497 6497000 6498070 1.98 [{'connected_gene': 'PLEKHG5', 'score': 550.34}, {'connected_gene': 'ESPN', 'score': 6.82}, {'connected_gene': 'TNFRSF25', 'score': 0.29}]
chr1 GH01I006500 6500818 6502873 1.12 [{'connected_gene': 'PLEKHG5', 'score': 5.13}, {'connected_gene': 'RNF207', 'score': 4.43}, {'connected_gene': 'TNFRSF25', 'score': 0.28}]
chr1 GH01I006516 6516987 6520923 1.79 [{'connected_gene': 'PLEKHG5', 'score': 567.48}, {'connected_gene': 'CAMTA1-DT', 'score': 14.83}, {'connected_gene': 'LOC102724450', 'score': 10.32}, {'connected_gene': 'TNFRSF25', 'score': 0.23}]
chr1 GH01I006515 6515449 6516501 0.51 [{'connected_gene': 'ZBTB48', 'score': 7.88}, {'connected_gene': 'PLEKHG5', 'score': 0.77}, {'connected_gene': 'TNFRSF25', 'score': 0.25}]
chr1 GH01I005990 5990873 5995461 2.57 [{'connected_gene': 'NPHP4', 'score': 569.4}, {'connected_gene': 'KCNAB2', 'score': 557.84}, {'connected_gene': 'THAP3', 'score': 28.97}, {'connected_gene': 'TNFRSF25', 'score': 21.26}, {'connected_gene': 'PHF13', 'score': 21.1}, {'connected_gene': 'RPL22', 'score': 20.75}, {'connected_gene': 'ZBTB48', 'score': 19.93}, {'connected_gene': 'NOL9', 'score': 10.05}, {'connected_gene': 'CHD5', 'score': 3.38}, {'connected_gene': 'GC01M006038', 'score': 0.25}]
chr1 GH01I006453 6453057 6454891 0.43 [{'connected_gene': 'ENSG00000231868', 'score': 0.44}, {'connected_gene': 'TNFRSF25', 'score': 0.39}, {'connected_gene': 'ESPN', 'score': 0.31}]
chr1 GH01I006455 6455181 6455330 0.38 [{'connected_gene': 'ENSG00000231868', 'score': 0.44}, {'connected_gene': 'TNFRSF25', 'score': 0.39}, {'connected_gene': 'ESPN', 'score': 0.29}]
chr1 GH01I006456 6455441 6455590 0.43 [{'connected_gene': 'ENSG00000231868', 'score': 0.44}, {'connected_gene': 'TNFRSF25', 'score': 0.39}, {'connected_gene': 'ESPN', 'score': 0.29}]
chr1 GH01I006446 6445823 6452168 1.31 [{'connected_gene': 'ENSG00000231868', 'score': 550.77}, {'connected_gene': 'ESPN', 'score': 19.14}, {'connected_gene': 'PLEKHG5', 'score': 11.7}, {'connected_gene': 'RNF207', 'score': 10.57}, {'connected_gene': 'LOC102724450', 'score': 10.57}, {'connected_gene': 'RPL22', 'score': 10.57}, {'connected_gene': 'ACOT7', 'score': 7.62}, {'connected_gene': 'TNFRSF25', 'score': 0.37}]

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