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
ENST00000251546 [[11714431, 11714638], [11715862, 11716157], [11718323, 11718421], [11718792, 11718928], [11721186, 11722346]] [[11715892, 11716157], [11718323, 11718421], [11718792, 11718928], [11721186, 11721362]]
ENST00000425796 [[11714913, 11715009], [11715384, 11715756], [11715862, 11716157], [11718323, 11718421], [11718792, 11718925]] [[11715892, 11716157], [11718323, 11718421], [11718792, 11718925]]
ENST00000376770 [[11714913, 11715009], [11715384, 11715756], [11715862, 11716157], [11718323, 11718450], [11718589, 11718685], [11718792, 11718928], [11721186, 11723384]] [[11715892, 11716157], [11718323, 11718450], [11718589, 11718685], [11718792, 11718928], [11721186, 11721330]]
ENST00000376768 [[11714937, 11715009], [11715862, 11716157], [11718323, 11718421], [11718589, 11718685], [11718792, 11718928], [11721186, 11721448]] [[11715892, 11716157], [11718323, 11718421], [11718589, 11718685], [11718792, 11718928], [11721186, 11721362]]
ENST00000251547 [[11714957, 11715009], [11715862, 11716157], [11718323, 11718450], [11718589, 11718685], [11718792, 11718928], [11721186, 11723383]] [[11715892, 11716157], [11718323, 11718450], [11718589, 11718685], [11718792, 11718928], [11721186, 11721330]]
ENST00000376760 [[11714966, 11715009], [11715726, 11715756], [11715862, 11716157], [11718323, 11718421], [11718792, 11718928], [11721186, 11721406]] [[11715892, 11716157], [11718323, 11718421], [11718792, 11718928], [11721186, 11721362]]
ENST00000376762 [[11714966, 11715009], [11715862, 11716157], [11718323, 11718421], [11718792, 11718928], [11721186, 11722348]] [[11715892, 11716157], [11718323, 11718421], [11718792, 11718928], [11721186, 11721362]]
ENST00000475435 [[11716121, 11716157], [11718323, 11718421], [11718792, 11718928], [11721186, 11721365], [11722681, 11723174]] [[11716121, 11716157], [11718323, 11718421], [11718792, 11718928], [11721186, 11721362]]
ENST00000471895 [[11718598, 11718685], [11718792, 11718928], [11721186, 11721365], [11722681, 11722788], [11722908, 11722985], [11723198, 11723381]] [[11718598, 11718685], [11718792, 11718928], [11721186, 11721362]]
NM_183412 [[11714431, 11714638], [11715862, 11716157], [11718323, 11718421], [11718792, 11718928], [11721186, 11723384]] [[11715892, 11716157], [11718323, 11718421], [11718792, 11718928], [11721186, 11721362]]
NM_001304791 [[11714431, 11714638], [11715862, 11716157], [11718323, 11718450], [11718589, 11718685], [11718792, 11718928], [11721186, 11723384]] [[11715892, 11716157], [11718323, 11718450], [11718589, 11718685], [11718792, 11718928], [11721186, 11721330]]
NR_130909 [[11714913, 11715009], [11715996, 11716157], [11718323, 11718421], [11718792, 11718928], [11721186, 11723384]] None
NM_183413 [[11714913, 11715009], [11715862, 11716157], [11718323, 11718421], [11718792, 11718928], [11721186, 11723384]] [[11715892, 11716157], [11718323, 11718421], [11718792, 11718928], [11721186, 11721362]]
NM_001330355 [[11714913, 11715009], [11715862, 11716157], [11718323, 11718421], [11718589, 11718685], [11718792, 11718928], [11721186, 11723384]] [[11715892, 11716157], [11718323, 11718421], [11718589, 11718685], [11718792, 11718928], [11721186, 11721362]]
NM_033182 [[11714913, 11715009], [11715862, 11716157], [11718323, 11718450], [11718589, 11718685], [11718792, 11718928], [11721186, 11723384]] [[11715892, 11716157], [11718323, 11718450], [11718589, 11718685], [11718792, 11718928], [11721186, 11721330]]
NM_001304790 [[11714913, 11715009], [11715726, 11715756], [11715862, 11716157], [11718323, 11718421], [11718792, 11718928], [11721186, 11723384]] [[11715892, 11716157], [11718323, 11718421], [11718792, 11718928], [11721186, 11721362]]
NM_001014765 [[11714913, 11715009], [11715384, 11715756], [11715862, 11716157], [11718323, 11718450], [11718589, 11718685], [11718792, 11718928], [11721186, 11723384]] [[11715892, 11716157], [11718323, 11718450], [11718589, 11718685], [11718792, 11718928], [11721186, 11721330]]
Promoter
Chrom Start End Description
chr1 11714425 11714436 CAGE_peak_9_at_FBXO44_5end
chr1 11714458 11714482 CAGE_peak_2_at_FBXO44_5end
chr1 11714919 11714976 CAGE_peak_1_at_FBXO44_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I011924 11924377 11929016 2.44 [{'connected_gene': 'KIAA2013', 'score': 550.77}, {'connected_gene': 'MFN2', 'score': 19.99}, {'connected_gene': 'CLCN6', 'score': 10.77}, {'connected_gene': 'FBXO44', 'score': 10.31}, {'connected_gene': 'PLOD1', 'score': 8.39}, {'connected_gene': 'NPPA-AS1', 'score': 7.23}]
chr1 GH01I011700 11700528 11702104 1.18 [{'connected_gene': 'DISP3', 'score': 16.57}, {'connected_gene': 'DRAXIN', 'score': 6.93}, {'connected_gene': 'MAD2L2', 'score': 2.69}, {'connected_gene': 'FBXO44', 'score': 1.69}, {'connected_gene': 'GC01P011722', 'score': 0.34}]
chr1 GH01I011704 11704364 11704493 0.66 [{'connected_gene': 'AGTRAP', 'score': 12.19}, {'connected_gene': 'FBXO2', 'score': 11.42}, {'connected_gene': 'FBXO44', 'score': 11.4}, {'connected_gene': 'C1orf167', 'score': 11.28}, {'connected_gene': 'LOC102724659', 'score': 11.25}, {'connected_gene': 'C1orf127', 'score': 8.59}, {'connected_gene': 'MAD2L2', 'score': 0.39}, {'connected_gene': 'GC01P011722', 'score': 0.37}, {'connected_gene': 'DRAXIN', 'score': 0.37}]
chr1 GH01I011705 11705966 11707082 0.74 [{'connected_gene': 'AGTRAP', 'score': 16.82}, {'connected_gene': 'MTOR', 'score': 11.49}, {'connected_gene': 'FBXO44', 'score': 11.4}, {'connected_gene': 'FBXO2', 'score': 11.4}, {'connected_gene': 'C1orf167', 'score': 11.28}, {'connected_gene': 'LOC102724659', 'score': 11.26}, {'connected_gene': 'ENSG00000271895', 'score': 10.21}, {'connected_gene': 'EXOSC10', 'score': 9.67}, {'connected_gene': 'C1orf127', 'score': 8.59}, {'connected_gene': 'MAD2L2', 'score': 0.39}, {'connected_gene': 'GC01P011722', 'score': 0.37}, {'connected_gene': 'DRAXIN', 'score': 0.37}]
chr1 GH01I010790 10790625 10797001 3.32 [{'connected_gene': 'CASZ1', 'score': 554.83}, {'connected_gene': 'TARDBP', 'score': 35.65}, {'connected_gene': 'ANGPTL7', 'score': 23.91}, {'connected_gene': 'ENSG00000226849', 'score': 22.91}, {'connected_gene': 'CLSTN1', 'score': 14.16}, {'connected_gene': 'UBIAD1', 'score': 11.63}, {'connected_gene': 'FBXO44', 'score': 10.28}, {'connected_gene': 'EXOSC10', 'score': 10.19}, {'connected_gene': 'GC01P010673', 'score': 0.13}]
chr1 GH01I011707 11707311 11707962 1.06 [{'connected_gene': 'EXOSC10', 'score': 18.13}, {'connected_gene': 'TARDBP', 'score': 15.01}, {'connected_gene': 'AGTRAP', 'score': 12.21}, {'connected_gene': 'ENSG00000226849', 'score': 11.96}, {'connected_gene': 'MTOR', 'score': 11.49}, {'connected_gene': 'FBXO44', 'score': 11.4}, {'connected_gene': 'FBXO2', 'score': 11.4}, {'connected_gene': 'C1orf167', 'score': 11.29}, {'connected_gene': 'LOC102724659', 'score': 11.26}, {'connected_gene': 'MTHFR', 'score': 11.11}, {'connected_gene': 'ENSG00000271895', 'score': 10.21}, {'connected_gene': 'C1orf127', 'score': 8.59}, {'connected_gene': 'DRAXIN', 'score': 5.08}, {'connected_gene': 'GC01P011722', 'score': 0.39}, {'connected_gene': 'MAD2L2', 'score': 0.37}]
chr1 GH01I011663 11663624 11665424 1.95 [{'connected_gene': 'FBXO6', 'score': 564.76}, {'connected_gene': 'FBXO44', 'score': 6.28}, {'connected_gene': 'MIIP', 'score': 4.99}, {'connected_gene': 'PIR43631', 'score': 0.39}]
chr1 GH01I011652 11652495 11655556 1.88 [{'connected_gene': 'FBXO2', 'score': 566.86}, {'connected_gene': 'FBXO44', 'score': 550.77}, {'connected_gene': 'FBXO6', 'score': 6.01}, {'connected_gene': 'GC01M011650', 'score': 0.77}]
chr1 GH01I010660 10660923 10661623 0.72 [{'connected_gene': 'TARDBP', 'score': 15.79}, {'connected_gene': 'CLSTN1', 'score': 14.16}, {'connected_gene': 'DFFA', 'score': 12.67}, {'connected_gene': 'EXOSC10', 'score': 10.47}, {'connected_gene': 'C1orf127', 'score': 10.42}, {'connected_gene': 'FBXO44', 'score': 10.28}, {'connected_gene': 'PGD', 'score': 4.67}, {'connected_gene': 'GC01P010673', 'score': 0.39}, {'connected_gene': 'ENSG00000272078', 'score': 0.34}, {'connected_gene': 'CASZ1', 'score': 0.12}]
chr1 GH01I011011 11011373 11014805 2.09 [{'connected_gene': 'TARDBP', 'score': 570.93}, {'connected_gene': 'ENSG00000277726', 'score': 550.77}, {'connected_gene': 'ENSG00000226849', 'score': 22.12}, {'connected_gene': 'CLCN6', 'score': 20.18}, {'connected_gene': 'EXOSC10', 'score': 10.58}, {'connected_gene': 'FBXO44', 'score': 10.28}, {'connected_gene': 'DFFA', 'score': 10.15}, {'connected_gene': 'MASP2', 'score': 9.96}, {'connected_gene': 'ANGPTL7', 'score': 5.96}, {'connected_gene': 'ENSG00000271895', 'score': 5.04}]
chr1 GH01I011175 11175715 11179292 1.35 [{'connected_gene': 'CLCN6', 'score': 36.78}, {'connected_gene': 'ENSG00000226849', 'score': 21.64}, {'connected_gene': 'ANGPTL7', 'score': 14.03}, {'connected_gene': 'ENSG00000271895', 'score': 12.31}, {'connected_gene': 'MTOR', 'score': 11.76}, {'connected_gene': 'TARDBP', 'score': 10.41}, {'connected_gene': 'FBXO44', 'score': 10.3}, {'connected_gene': 'EXOSC10', 'score': 10.19}, {'connected_gene': 'RNU6-537P', 'score': 0.31}]
chr1 GH01I012200 12200930 12205130 1.06 [{'connected_gene': 'GC01P012204', 'score': 550.77}, {'connected_gene': 'FBXO44', 'score': 5.75}, {'connected_gene': 'MIR4632', 'score': 0.39}, {'connected_gene': 'TNFRSF1B', 'score': 0.28}]

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