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
ENST00000523764 [[52586533, 52586598], [52602454, 52603793]] [[52586554, 52586598], [52602454, 52602521]]
ENST00000521508 [[52586549, 52586598], [52593048, 52593279], [52598141, 52599073], [52602454, 52603800]] [[52586554, 52586598], [52593048, 52593279], [52598141, 52599073], [52602454, 52602726]]
ENST00000519151 [[52594704, 52597915], [52598141, 52599073], [52602454, 52602885]] None
NM_001004127 [[52586522, 52586598], [52593048, 52593279], [52598141, 52599073], [52602454, 52603780]] [[52586554, 52586598], [52593048, 52593279], [52598141, 52599073], [52602454, 52602726]]
NR_036571 [[52586522, 52586598], [52602454, 52603784]] None
Promoter
Chrom Start End Description
chr13 52586517 52586559 CAGE_peak_1_at_ALG11_5end,CAGE_peak_1_at_UTP14C_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I052024 52024615 52024674 0.61 [{'connected_gene': 'UTP14C', 'score': 550.77}, {'connected_gene': 'TPTE2P2', 'score': 13.92}, {'connected_gene': 'ALG11', 'score': 0.39}]
chr13 GH13I052061 52061665 52061814 0.2 [{'connected_gene': 'UTP14C', 'score': 11.87}, {'connected_gene': 'ALG11', 'score': 11.84}, {'connected_gene': 'CCDC70', 'score': 10.13}, {'connected_gene': 'PIR48020', 'score': 0.29}, {'connected_gene': 'GC13P052032', 'score': 0.29}, {'connected_gene': 'NEK5', 'score': 0.2}, {'connected_gene': 'LOC101929657', 'score': 0.2}]
chr13 GH13I052022 52022485 52022634 0.52 [{'connected_gene': 'UTP14C', 'score': 0.77}, {'connected_gene': 'ALG11', 'score': 0.39}]
chr13 GH13I051839 51839364 51840062 0.31 [{'connected_gene': 'CCDC70', 'score': 13.21}, {'connected_gene': 'DHRS12', 'score': 11.63}, {'connected_gene': 'ENSG00000231856', 'score': 11.63}, {'connected_gene': 'ALG11', 'score': 10.22}, {'connected_gene': 'UTP14C', 'score': 10.21}, {'connected_gene': 'NEK5', 'score': 9.95}, {'connected_gene': 'FAM124A', 'score': 9.2}, {'connected_gene': 'VPS36', 'score': 4.72}, {'connected_gene': 'TMEM272', 'score': 0.44}]
chr13 GH13I051981 51981054 51982114 0.49 [{'connected_gene': 'ATP7B', 'score': 34.18}, {'connected_gene': 'ALG11', 'score': 11.57}, {'connected_gene': 'UTP14C', 'score': 11.54}, {'connected_gene': 'NEK5', 'score': 10.71}, {'connected_gene': 'CKAP2', 'score': 9.15}, {'connected_gene': 'FABP5P2', 'score': 0.39}]
chr13 GH13I052181 52181099 52182296 0.2 [{'connected_gene': 'ATP7B', 'score': 10.47}, {'connected_gene': 'ALG11', 'score': 10.47}, {'connected_gene': 'DHRS12', 'score': 10.04}, {'connected_gene': 'ENSG00000231856', 'score': 10.04}, {'connected_gene': 'PIR59389', 'score': 0.39}, {'connected_gene': 'MRPS31P5', 'score': 0.39}, {'connected_gene': 'ENSG00000217576', 'score': 0.14}]
chr13 GH13I052009 52009849 52013635 2.07 [{'connected_gene': 'ATP7B', 'score': 591.58}, {'connected_gene': 'ALG11', 'score': 566.24}, {'connected_gene': 'NEK3', 'score': 25.6}, {'connected_gene': 'TPTE2P2', 'score': 13.16}, {'connected_gene': 'INTS6', 'score': 12.84}, {'connected_gene': 'FABP5P2', 'score': 0.25}]
chr13 GH13I052070 52070801 52071201 0.91 [{'connected_gene': 'ATP7B', 'score': 46.56}, {'connected_gene': 'NEK5', 'score': 10.71}, {'connected_gene': 'ALG11', 'score': 10.42}, {'connected_gene': 'UTP14C', 'score': 10.26}, {'connected_gene': 'PIR48020', 'score': 0.26}, {'connected_gene': 'GC13P052032', 'score': 0.26}, {'connected_gene': 'LOC101929657', 'score': 0.22}]
chr13 GH13I052427 52427089 52430047 0.64 [{'connected_gene': 'VPS36', 'score': 32.7}, {'connected_gene': 'TPTE2P2', 'score': 15.16}, {'connected_gene': 'THSD1', 'score': 12.58}, {'connected_gene': 'CKAP2', 'score': 12.21}, {'connected_gene': 'UTP14C', 'score': 9.54}, {'connected_gene': 'ALG11', 'score': 9.54}, {'connected_gene': 'NEK5', 'score': 6.74}]
chr13 GH13I051943 51943495 51944482 0.38 [{'connected_gene': 'VPS36', 'score': 11.82}, {'connected_gene': 'ATP7B', 'score': 11.47}, {'connected_gene': 'ALG11', 'score': 11.47}, {'connected_gene': 'UTP14C', 'score': 11.34}, {'connected_gene': 'CCDC70', 'score': 10.69}, {'connected_gene': 'ENSG00000279677', 'score': 0.34}, {'connected_gene': 'FABP5P2', 'score': 0.34}]
chr13 GH13I051941 51941826 51942769 0.51 [{'connected_gene': 'VPS36', 'score': 11.85}, {'connected_gene': 'ATP7B', 'score': 11.47}, {'connected_gene': 'ALG11', 'score': 11.46}, {'connected_gene': 'UTP14C', 'score': 11.34}, {'connected_gene': 'NEK3', 'score': 11.21}, {'connected_gene': 'CCDC70', 'score': 10.69}, {'connected_gene': 'ENSG00000279677', 'score': 0.34}, {'connected_gene': 'FABP5P2', 'score': 0.34}]
chr13 GH13I052108 52108635 52110054 0.38 [{'connected_gene': 'NEK3', 'score': 19.68}, {'connected_gene': 'UTP14C', 'score': 10.85}, {'connected_gene': 'ALG11', 'score': 10.83}, {'connected_gene': 'CCDC70', 'score': 9.88}, {'connected_gene': 'LOC101929657', 'score': 0.37}, {'connected_gene': 'NEK5', 'score': 0.34}, {'connected_gene': 'GC13P052032', 'score': 0.18}, {'connected_gene': 'PIR48020', 'score': 0.18}]
chr13 GH13I051969 51969737 51972553 0.96 [{'connected_gene': 'NEK3', 'score': 15.54}, {'connected_gene': 'UTP14C', 'score': 12.58}, {'connected_gene': 'ALG11', 'score': 11.19}, {'connected_gene': 'NEK5', 'score': 10.12}, {'connected_gene': 'CKAP2', 'score': 10.04}, {'connected_gene': 'FABP5P2', 'score': 0.77}, {'connected_gene': 'ATP7B', 'score': 0.26}]
chr13 GH13I052087 52087642 52088266 0.72 [{'connected_gene': 'NEK3', 'score': 24.22}, {'connected_gene': 'TPTE2P2', 'score': 12.64}, {'connected_gene': 'UTP14C', 'score': 11.36}, {'connected_gene': 'ALG11', 'score': 11.33}, {'connected_gene': 'NEK5', 'score': 11.04}, {'connected_gene': 'ATP7B', 'score': 10.65}, {'connected_gene': 'DHRS12', 'score': 9.48}, {'connected_gene': 'ENSG00000231856', 'score': 9.48}, {'connected_gene': 'LOC101929657', 'score': 0.26}, {'connected_gene': 'GC13P052032', 'score': 0.22}, {'connected_gene': 'PIR48020', 'score': 0.22}]
chr13 GH13I051977 51977756 51980327 0.87 [{'connected_gene': 'NEK3', 'score': 17.25}, {'connected_gene': 'ALG11', 'score': 11.57}, {'connected_gene': 'UTP14C', 'score': 11.53}, {'connected_gene': 'ATP7B', 'score': 11.15}, {'connected_gene': 'NEK5', 'score': 10.27}, {'connected_gene': 'FABP5P2', 'score': 0.39}]
chr13 GH13I052186 52186866 52189207 1.03 [{'connected_gene': 'NEK3', 'score': 18.07}, {'connected_gene': 'NEK5', 'score': 10.74}, {'connected_gene': 'CCDC70', 'score': 10.52}, {'connected_gene': 'ALG11', 'score': 10.5}, {'connected_gene': 'VPS36', 'score': 10.48}, {'connected_gene': 'ATP7B', 'score': 10.46}, {'connected_gene': 'DHRS12', 'score': 10.04}, {'connected_gene': 'ENSG00000231856', 'score': 10.04}, {'connected_gene': 'ENSG00000244471', 'score': 5.28}, {'connected_gene': 'MRPS31P5', 'score': 0.44}, {'connected_gene': 'PIR59389', 'score': 0.37}, {'connected_gene': 'ENSG00000217576', 'score': 0.15}]
chr13 GH13I052085 52085109 52085983 0.2 [{'connected_gene': 'NEK3', 'score': 24.22}, {'connected_gene': 'NEK5', 'score': 11.39}, {'connected_gene': 'ATP7B', 'score': 11.07}, {'connected_gene': 'ALG11', 'score': 11.07}, {'connected_gene': 'UTP14C', 'score': 10.96}, {'connected_gene': 'CCDC70', 'score': 9.91}, {'connected_gene': 'LOC101929657', 'score': 0.26}, {'connected_gene': 'GC13P052032', 'score': 0.22}, {'connected_gene': 'PIR48020', 'score': 0.22}]
chr13 GH13I051519 51519528 51521042 0.98 [{'connected_gene': 'ALG11', 'score': 12.78}, {'connected_gene': 'SERPINE3', 'score': 10.8}, {'connected_gene': 'VPS36', 'score': 9.73}, {'connected_gene': 'SNRPGP11', 'score': 0.34}, {'connected_gene': 'MIR4703', 'score': 0.29}, {'connected_gene': 'INTS6-AS1', 'score': 0.2}]
chr13 GH13I051315 51315058 51316354 0.82 [{'connected_gene': 'ALG11', 'score': 35.64}, {'connected_gene': 'INTS6', 'score': 18.61}, {'connected_gene': 'SERPINE3', 'score': 12.26}, {'connected_gene': 'UTP14C', 'score': 11.4}, {'connected_gene': 'FAM124A', 'score': 11.15}, {'connected_gene': 'RNASEH2B', 'score': 10.3}, {'connected_gene': 'GC13P051260', 'score': 0.23}]
chr13 GH13I052174 52174001 52174367 0.51 [{'connected_gene': 'NEK5', 'score': 10.73}, {'connected_gene': 'UTP14C', 'score': 9.83}, {'connected_gene': 'ALG11', 'score': 9.81}, {'connected_gene': 'PIR59389', 'score': 0.44}, {'connected_gene': 'MRPS31P5', 'score': 0.34}, {'connected_gene': 'ENSG00000217576', 'score': 0.13}]
chr13 GH13I051963 51963734 51964064 0.25 [{'connected_gene': 'NEK5', 'score': 11.41}, {'connected_gene': 'ATP7B', 'score': 11.06}, {'connected_gene': 'ALG11', 'score': 11.06}, {'connected_gene': 'UTP14C', 'score': 6.11}, {'connected_gene': 'FABP5P2', 'score': 0.77}, {'connected_gene': 'ENSG00000279677', 'score': 0.26}]
chr13 GH13I052127 52127505 52129603 1.95 [{'connected_gene': 'NEK5', 'score': 550.77}, {'connected_gene': 'LOC101929657', 'score': 550.77}, {'connected_gene': 'NEK3', 'score': 33.02}, {'connected_gene': 'TPTE2P2', 'score': 13.23}, {'connected_gene': 'ALG11', 'score': 11.02}, {'connected_gene': 'PIR48020', 'score': 0.15}, {'connected_gene': 'GC13P052032', 'score': 0.15}]
chr13 GH13I052453 52453289 52457554 2.2 [{'connected_gene': 'CKAP2', 'score': 597.85}, {'connected_gene': 'ENSG00000278238', 'score': 550.77}, {'connected_gene': 'TPTE2P2', 'score': 15.13}, {'connected_gene': 'THSD1', 'score': 10.75}, {'connected_gene': 'ALG11', 'score': 9.99}, {'connected_gene': 'NEK5', 'score': 6.33}, {'connected_gene': 'GC13M052475', 'score': 0.34}]
chr13 GH13I052170 52170677 52171728 0.51 [{'connected_gene': 'CKAP2', 'score': 31.56}, {'connected_gene': 'NEK5', 'score': 10.73}, {'connected_gene': 'UTP14C', 'score': 9.83}, {'connected_gene': 'ALG11', 'score': 9.82}, {'connected_gene': 'PIR59389', 'score': 0.77}, {'connected_gene': 'MRPS31P5', 'score': 0.34}, {'connected_gene': 'ENSG00000217576', 'score': 0.13}]
chr13 GH13I051450 51450244 51455871 2.28 [{'connected_gene': 'RPS4XP16', 'score': 560.67}, {'connected_gene': 'INTS6', 'score': 550.77}, {'connected_gene': 'INTS6-AS1', 'score': 550.77}, {'connected_gene': 'MRPS31P5', 'score': 19.8}, {'connected_gene': 'SERPINE3', 'score': 19.34}, {'connected_gene': 'DHRS12', 'score': 10.82}, {'connected_gene': 'ENSG00000231856', 'score': 10.82}, {'connected_gene': 'UTP14C', 'score': 10.46}, {'connected_gene': 'ALG11', 'score': 9.98}]
chr13 GH13I051247 51246337 51247147 0.51 [{'connected_gene': 'FAM124A', 'score': 12.55}, {'connected_gene': 'ALG11', 'score': 4.69}, {'connected_gene': 'GC13P051237', 'score': 0.44}, {'connected_gene': 'GC13P051260', 'score': 0.39}]
chr13 GH13I052616 52616457 52618600 1.83 [{'connected_gene': 'HNRNPA1L2', 'score': 550.77}, {'connected_gene': 'TPTE2P2', 'score': 15.06}, {'connected_gene': 'UTP14C', 'score': 13.26}, {'connected_gene': 'ALG11', 'score': 13.13}, {'connected_gene': 'ENSG00000273784', 'score': 0.37}, {'connected_gene': 'MRPS31P4', 'score': 0.37}, {'connected_gene': 'ENSG00000273723', 'score': 0.29}]
chr13 GH13I052650 52650759 52654491 2.09 [{'connected_gene': 'SUGT1', 'score': 550.77}, {'connected_gene': 'ENSG00000273723', 'score': 550.77}, {'connected_gene': 'ALG11', 'score': 22.32}, {'connected_gene': 'CKAP2', 'score': 22.29}, {'connected_gene': 'TPTE2P2', 'score': 16.04}, {'connected_gene': 'UTP14C', 'score': 10.46}]
chr13 GH13I052193 52193319 52196000 2.06 [{'connected_gene': 'MRPS31P5', 'score': 570.55}, {'connected_gene': 'ALG11', 'score': 54.8}, {'connected_gene': 'RPS4XP16', 'score': 40.0}, {'connected_gene': 'UTP14C', 'score': 38.07}, {'connected_gene': 'SUGT1', 'score': 38.02}, {'connected_gene': 'CKAP2', 'score': 34.32}, {'connected_gene': 'INTS6', 'score': 27.12}, {'connected_gene': 'SERPINE3', 'score': 22.39}, {'connected_gene': 'INTS6-AS1', 'score': 21.06}, {'connected_gene': 'TPTE2P2', 'score': 15.11}, {'connected_gene': 'NEK5', 'score': 12.35}, {'connected_gene': 'CTAGE3P', 'score': 12.2}, {'connected_gene': 'ATP7B', 'score': 11.69}, {'connected_gene': 'VPS36', 'score': 9.95}, {'connected_gene': 'HNRNPA1L2', 'score': 9.93}, {'connected_gene': 'PIR51896', 'score': 0.29}, {'connected_gene': 'ENSG00000217576', 'score': 0.15}]
chr13 GH13I051906 51906665 51906814 0.57 [{'connected_gene': 'PIR42261', 'score': 550.77}, {'connected_gene': 'NEK5', 'score': 10.92}, {'connected_gene': 'CCDC70', 'score': 10.77}, {'connected_gene': 'ALG11', 'score': 10.76}, {'connected_gene': 'UTP14C', 'score': 10.75}, {'connected_gene': 'ATP7B', 'score': 0.14}]
chr13 GH13I051260 51260799 51262330 0.38 [{'connected_gene': 'GC13P051260', 'score': 550.77}, {'connected_gene': 'FAM124A', 'score': 16.76}, {'connected_gene': 'SERPINE3', 'score': 14.21}, {'connected_gene': 'ALG11', 'score': 12.4}, {'connected_gene': 'RPS4XP16', 'score': 12.03}]

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