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
ENST00000262648 [[8496914, 8501094], [8502359, 8502501], [8503631, 8503852], [8504811, 8504983], [8507704, 8507799], [8521992, 8522139], [8536272, 8536417], [8538539, 8538745], [8553307, 8553437], [8555834, 8556019], [8565074, 8565297], [8591648, 8591711], [8667738, 8667786], [8699870, 8700227]] [[8501035, 8501094], [8502359, 8502501], [8503631, 8503852], [8504811, 8504983], [8507704, 8507799], [8521992, 8522139], [8536272, 8536417], [8538539, 8538745], [8553307, 8553437], [8555834, 8556019], [8565074, 8565297], [8591648, 8591711], [8667738, 8667786], [8699870, 8700077]]
ENST00000481896 [[8503221, 8503852], [8504811, 8504977]] None
ENST00000488294 [[8533846, 8534253], [8536272, 8536417], [8538539, 8538691]] None
NM_000216 [[8496914, 8501094], [8502359, 8502501], [8503631, 8503852], [8504811, 8504983], [8507704, 8507799], [8521992, 8522139], [8536272, 8536417], [8538539, 8538745], [8553307, 8553437], [8555834, 8556019], [8565074, 8565297], [8591648, 8591711], [8667738, 8667786], [8699870, 8700228]] [[8501035, 8501094], [8502359, 8502501], [8503631, 8503852], [8504811, 8504983], [8507704, 8507799], [8521992, 8522139], [8536272, 8536417], [8538539, 8538745], [8553307, 8553437], [8555834, 8556019], [8565074, 8565297], [8591648, 8591711], [8667738, 8667786], [8699870, 8700077]]
Promoter
Chrom Start End Description
chrX 8700158 8700167 CAGE_peak_2_at_KAL1_5end
chrX 8700171 8700212 CAGE_peak_1_at_KAL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chrX GH0XI008846 8846627 8852748 0.7 [{'connected_gene': 'ANOS1', 'score': 4.31}, {'connected_gene': 'PNPLA4', 'score': 3.98}, {'connected_gene': 'LOC100128808', 'score': 0.44}, {'connected_gene': 'FAM9A', 'score': 0.25}]
chrX GH0XI008342 8342280 8342429 0.38 [{'connected_gene': 'ANOS1', 'score': 4.5}, {'connected_gene': 'PIR50074', 'score': 0.25}, {'connected_gene': 'VCX2', 'score': 0.09}]
chrX GH0XI008675 8675360 8675509 0.2 [{'connected_gene': 'ANOS1', 'score': 0.22}, {'connected_gene': 'PIR50496', 'score': 0.19}]
chrX GH0XI008717 8717500 8717649 0.2 [{'connected_gene': 'ANOS1', 'score': 0.39}, {'connected_gene': 'PIR50496', 'score': 0.14}]
chrX GH0XI008668 8668822 8669322 0.4 [{'connected_gene': 'ANOS1', 'score': 0.21}, {'connected_gene': 'PIR50496', 'score': 0.2}]
chrX GH0XI008716 8716416 8716867 0.2 [{'connected_gene': 'ANOS1', 'score': 0.37}, {'connected_gene': 'PIR50496', 'score': 0.14}]
chrX GH0XI008721 8721680 8721849 0.31 [{'connected_gene': 'ANOS1', 'score': 0.39}, {'connected_gene': 'PIR50496', 'score': 0.13}]
chrX GH0XI008673 8673325 8675280 0.46 [{'connected_gene': 'ANOS1', 'score': 4.8}, {'connected_gene': 'PIR50496', 'score': 0.19}]
chrX GH0XI008733 8733001 8733200 0.2 [{'connected_gene': 'ANOS1', 'score': 550.77}, {'connected_gene': 'PIR56290', 'score': 0.28}]
chrX GH0XI008688 8688860 8689069 0.2 [{'connected_gene': 'ANOS1', 'score': 0.26}, {'connected_gene': 'PIR50496', 'score': 0.17}]
chrX GH0XI008757 8757181 8758816 0.2 [{'connected_gene': 'ANOS1', 'score': 6.08}, {'connected_gene': 'PIR56290', 'score': 0.39}]
chrX GH0XI008729 8729001 8729200 0.38 [{'connected_gene': 'ANOS1', 'score': 0.77}, {'connected_gene': 'PIR50496', 'score': 0.13}]
chrX GH0XI008731 8730201 8730400 0.2 [{'connected_gene': 'ANOS1', 'score': 550.77}, {'connected_gene': 'PIR50496', 'score': 0.13}]
chrX GH0XI008730 8730801 8732600 1.59 [{'connected_gene': 'ANOS1', 'score': 556.91}, {'connected_gene': 'PIR50496', 'score': 0.13}]
chrX GH0XI008724 8724400 8724549 0.31 [{'connected_gene': 'ANOS1', 'score': 0.44}, {'connected_gene': 'PIR50496', 'score': 0.13}]
chrX GH0XI008663 8663310 8664019 0.2 [{'connected_gene': 'PIR50496', 'score': 0.21}, {'connected_gene': 'ANOS1', 'score': 0.2}]

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