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
ENST00000569412 [[87401257, 87401551], [87423342, 87423454], [87425688, 87425713]] None
ENST00000567622 [[87419616, 87419812], [87422294, 87422364], [87423342, 87423454], [87425688, 87425748]] None
ENST00000311635 [[87360592, 87365116], [87367491, 87367892], [87368909, 87369063], [87369760, 87369870], [87376482, 87376557], [87377203, 87377371], [87380779, 87380856], [87393900, 87393972], [87417010, 87417363]] [[87364893, 87365116], [87367491, 87367892], [87368909, 87369063], [87369760, 87369870], [87376482, 87376557], [87377203, 87377371], [87380779, 87380856], [87393900, 87393972], [87417010, 87417350]]
ENST00000565593 [[87362941, 87365116], [87367491, 87367727], [87417063, 87417369]] [[87367594, 87367727], [87417063, 87417350]]
ENST00000563113 [[87368953, 87369063], [87369760, 87369870], [87376482, 87376557], [87377203, 87377371], [87380779, 87380856], [87393900, 87393972], [87423342, 87423456]] [[87368953, 87369063], [87369760, 87369870], [87376482, 87376557], [87377203, 87377344]]
ENST00000561664 [[87377351, 87377371], [87380779, 87380856], [87393900, 87393972], [87400978, 87401114]] None
ENST00000563956 [[87401350, 87401551], [87417010, 87417357]] None
NM_001282683 [[87360592, 87365116], [87367491, 87367892], [87368909, 87369063], [87369760, 87369870], [87376482, 87376557], [87377203, 87377371], [87380779, 87380856], [87393900, 87393972], [87423342, 87423454], [87425688, 87425713]] [[87364893, 87365116], [87367491, 87367892], [87368909, 87369063], [87369760, 87369870], [87376482, 87376557], [87377203, 87377344]]
NM_024735 [[87360592, 87365116], [87367491, 87367892], [87368909, 87369063], [87369760, 87369870], [87376482, 87376557], [87377203, 87377371], [87380779, 87380856], [87393900, 87393972], [87417010, 87417399]] [[87364893, 87365116], [87367491, 87367892], [87368909, 87369063], [87369760, 87369870], [87376482, 87376557], [87377203, 87377371], [87380779, 87380856], [87393900, 87393972], [87417010, 87417350]]
Promoter
Chrom Start End Description
chr16 87415070 87415094 CAGE_peak_4_at_FBXO31_5end
chr16 87417328 87417339 CAGE_peak_3_at_FBXO31_5end
chr16 87417351 87417392 CAGE_peak_1_at_FBXO31_5end
chr16 87425644 87425738 CAGE_peak_2_at_FBXO31_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I087379 87379079 87380030 1.06 [{'connected_gene': 'MAP1LC3B', 'score': 0.77}, {'connected_gene': 'PIR52096', 'score': 0.39}, {'connected_gene': 'FBXO31', 'score': 0.39}]
chr16 GH16I087864 87864973 87873764 2.59 [{'connected_gene': 'SLC7A5', 'score': 550.77}, {'connected_gene': 'ZC3H18', 'score': 34.93}, {'connected_gene': 'BANP', 'score': 23.48}, {'connected_gene': 'KLHDC4', 'score': 21.68}, {'connected_gene': 'ZCCHC14', 'score': 14.83}, {'connected_gene': 'CTU2', 'score': 10.73}, {'connected_gene': 'TRAPPC2L', 'score': 10.13}, {'connected_gene': 'CA5A', 'score': 8.33}, {'connected_gene': 'MAP1LC3B', 'score': 1.77}, {'connected_gene': 'FBXO31', 'score': 1.41}, {'connected_gene': 'PIR45032', 'score': 0.44}]
chr16 GH16I087390 87390698 87394724 2.3 [{'connected_gene': 'FBXO31', 'score': 561.08}, {'connected_gene': 'MAP1LC3B', 'score': 550.44}, {'connected_gene': 'MTHFSD', 'score': 46.57}, {'connected_gene': 'BANP', 'score': 27.43}, {'connected_gene': 'KLHDC4', 'score': 10.07}, {'connected_gene': 'ZCCHC14', 'score': 9.95}, {'connected_gene': 'ENSG00000261592', 'score': 0.44}]
chr16 GH16I087375 87375407 87377085 1.07 [{'connected_gene': 'FBXO31', 'score': 9.61}, {'connected_gene': 'MAP1LC3B', 'score': 0.44}, {'connected_gene': 'PIR52096', 'score': 0.44}]
chr16 GH16I087369 87369987 87372234 0.78 [{'connected_gene': 'FBXO31', 'score': 10.05}, {'connected_gene': 'PIR52096', 'score': 0.77}, {'connected_gene': 'MAP1LC3B', 'score': 0.39}]
chr16 GH16I087431 87431549 87432872 0.58 [{'connected_gene': 'FBXO31', 'score': 11.76}, {'connected_gene': 'KLHDC4', 'score': 10.0}, {'connected_gene': 'NR3C1P1', 'score': 0.29}, {'connected_gene': 'ENSG00000261592', 'score': 0.29}, {'connected_gene': 'ZCCHC14', 'score': 0.21}]
chr16 GH16I087435 87435099 87437693 0.96 [{'connected_gene': 'FBXO31', 'score': 11.76}, {'connected_gene': 'KLHDC4', 'score': 9.99}, {'connected_gene': 'LOC100129215', 'score': 4.8}, {'connected_gene': 'NR3C1P1', 'score': 0.29}, {'connected_gene': 'ENSG00000261592', 'score': 0.28}, {'connected_gene': 'ZCCHC14', 'score': 0.22}]
chr16 GH16I087324 87324815 87324964 0.67 [{'connected_gene': 'FBXO31', 'score': 12.2}, {'connected_gene': 'ENSG00000270082', 'score': 0.77}, {'connected_gene': 'ENSG00000131152', 'score': 0.44}, {'connected_gene': 'LOC101928659', 'score': 0.44}]
chr16 GH16I087303 87303223 87304123 0.81 [{'connected_gene': 'FBXO31', 'score': 10.82}, {'connected_gene': 'C16orf95', 'score': 7.17}, {'connected_gene': 'ENSG00000280419', 'score': 0.44}, {'connected_gene': 'ENSG00000131152', 'score': 0.29}]
chr16 GH16I087344 87344563 87346534 1.18 [{'connected_gene': 'FBXO31', 'score': 8.62}, {'connected_gene': 'C16orf95', 'score': 7.56}, {'connected_gene': 'ENSG00000131152', 'score': 0.39}, {'connected_gene': 'ENSG00000269901', 'score': 0.37}]
chr16 GH16I087357 87357606 87360350 0.31 [{'connected_gene': 'FBXO31', 'score': 12.8}, {'connected_gene': 'ENSG00000131152', 'score': 12.13}, {'connected_gene': 'C16orf95', 'score': 12.05}, {'connected_gene': 'ENSG00000269901', 'score': 0.77}]
chr16 GH16I087380 87380351 87385621 2.33 [{'connected_gene': 'FBXO31', 'score': 578.11}, {'connected_gene': 'TRM-CAT6-1', 'score': 550.77}, {'connected_gene': 'MAP1LC3B', 'score': 550.77}, {'connected_gene': 'GC16M087385', 'score': 550.77}, {'connected_gene': 'ZCCHC14', 'score': 24.88}, {'connected_gene': 'PIR52096', 'score': 0.37}]
chr16 GH16I087350 87350398 87352134 0.58 [{'connected_gene': 'FBXO31', 'score': 7.3}, {'connected_gene': 'ENSG00000269901', 'score': 0.39}, {'connected_gene': 'ENSG00000131152', 'score': 0.37}]
chr16 GH16I087787 87787716 87792567 1.64 [{'connected_gene': 'CA5A', 'score': 16.84}, {'connected_gene': 'BANP', 'score': 12.12}, {'connected_gene': 'FBXO31', 'score': 11.16}, {'connected_gene': 'CTU2', 'score': 10.27}, {'connected_gene': 'KLHDC4', 'score': 5.37}, {'connected_gene': 'LOC102724467', 'score': 0.39}, {'connected_gene': 'ENSG00000260177', 'score': 0.37}]
chr16 GH16I087386 87386060 87390017 1.31 [{'connected_gene': 'MTHFSD', 'score': 24.58}, {'connected_gene': 'FBXO31', 'score': 18.97}, {'connected_gene': 'ZCCHC14', 'score': 18.86}, {'connected_gene': 'KLHDC4', 'score': 10.07}, {'connected_gene': 'BANP', 'score': 9.81}, {'connected_gene': 'TRM-CAT6-1', 'score': 0.77}, {'connected_gene': 'MAP1LC3B', 'score': 0.77}, {'connected_gene': 'GC16M087385', 'score': 0.77}]
chr16 GH16I087550 87550475 87550624 0.76 [{'connected_gene': 'JPH3', 'score': 11.64}, {'connected_gene': 'FBXO31', 'score': 4.73}, {'connected_gene': 'PIR35253', 'score': 0.29}]
chr16 GH16I087841 87841021 87863965 1.85 [{'connected_gene': 'BANP', 'score': 14.56}, {'connected_gene': 'SLC7A5', 'score': 11.53}, {'connected_gene': 'FBXO31', 'score': 6.14}, {'connected_gene': 'LOC400553', 'score': 6.09}, {'connected_gene': 'ZCCHC14', 'score': 5.21}, {'connected_gene': 'APRT', 'score': 4.94}, {'connected_gene': 'MAP1LC3B', 'score': 3.1}, {'connected_gene': 'CA5A', 'score': 3.1}, {'connected_gene': 'KLHDC4', 'score': 1.74}, {'connected_gene': 'PIR45032', 'score': 0.44}, {'connected_gene': 'ENSG00000260466', 'score': 0.37}]
chr16 GH16I087947 87947657 87958141 2.88 [{'connected_gene': 'BANP', 'score': 605.57}, {'connected_gene': 'ZC3H18', 'score': 22.36}, {'connected_gene': 'ZCCHC14', 'score': 13.31}, {'connected_gene': 'GALNS', 'score': 13.06}, {'connected_gene': 'ENSG00000269901', 'score': 10.08}, {'connected_gene': 'FBXO31', 'score': 10.05}, {'connected_gene': 'LOC400553', 'score': 6.58}, {'connected_gene': 'SLC7A5', 'score': 1.32}, {'connected_gene': 'PIR49178', 'score': 0.26}]
chr16 GH16I087446 87446343 87449524 0.76 [{'connected_gene': 'KLHDC4', 'score': 9.49}, {'connected_gene': 'FBXO31', 'score': 7.39}, {'connected_gene': 'NR3C1P1', 'score': 0.37}, {'connected_gene': 'ZCCHC14', 'score': 0.26}, {'connected_gene': 'ENSG00000261592', 'score': 0.25}]
chr16 GH16I087455 87455301 87459353 1.15 [{'connected_gene': 'KLHDC4', 'score': 9.81}, {'connected_gene': 'FBXO31', 'score': 7.36}, {'connected_gene': 'ZCCHC14', 'score': 5.29}, {'connected_gene': 'NR3C1P1', 'score': 0.44}, {'connected_gene': 'ENSG00000261592', 'score': 0.22}]
chr16 GH16I087459 87459709 87467630 1.73 [{'connected_gene': 'KLHDC4', 'score': 10.07}, {'connected_gene': 'LOC101928659', 'score': 9.87}, {'connected_gene': 'ZCCHC14', 'score': 8.6}, {'connected_gene': 'MAP1LC3B', 'score': 7.12}, {'connected_gene': 'FBXO31', 'score': 6.14}, {'connected_gene': 'BANP', 'score': 4.27}, {'connected_gene': 'NR3C1P1', 'score': 0.77}, {'connected_gene': 'ENSG00000261592', 'score': 0.21}]
chr16 GH16I087722 87722645 87726084 1.39 [{'connected_gene': 'KLHDC4', 'score': 26.61}, {'connected_gene': 'ENSG00000260671', 'score': 16.02}, {'connected_gene': 'LOC100129215', 'score': 12.28}, {'connected_gene': 'ENSG00000260121', 'score': 11.41}, {'connected_gene': 'ZC3H18', 'score': 10.46}, {'connected_gene': 'C16orf95', 'score': 5.48}, {'connected_gene': 'ENSG00000260466', 'score': 5.01}, {'connected_gene': 'JPH3', 'score': 2.41}, {'connected_gene': 'FBXO31', 'score': 1.36}, {'connected_gene': 'ZCCHC14', 'score': 1.18}, {'connected_gene': 'LOC105371397', 'score': 0.34}]
chr16 GH16I087481 87481482 87483291 0.31 [{'connected_gene': 'ZCCHC14', 'score': 7.24}, {'connected_gene': 'FBXO31', 'score': 5.95}, {'connected_gene': 'ENSG00000276337', 'score': 0.44}]
chr16 GH16I087305 87305533 87306844 1.05 [{'connected_gene': 'C16orf95', 'score': 12.71}, {'connected_gene': 'FBXO31', 'score': 10.82}, {'connected_gene': 'ENSG00000280419', 'score': 0.44}, {'connected_gene': 'ENSG00000131152', 'score': 0.31}]
chr16 GH16I087385 87385692 87385732 0.4 [{'connected_gene': 'TRM-CAT6-1', 'score': 550.77}, {'connected_gene': 'MAP1LC3B', 'score': 550.77}, {'connected_gene': 'GC16M087385', 'score': 550.77}, {'connected_gene': 'FBXO31', 'score': 0.44}]
chr16 GH16I087368 87368800 87369000 0.38 [{'connected_gene': 'PIR52096', 'score': 550.77}, {'connected_gene': 'MAP1LC3B', 'score': 0.37}, {'connected_gene': 'FBXO31', 'score': 0.34}]
chr16 GH16I087474 87474455 87475299 0.94 [{'connected_gene': 'ENSG00000276337', 'score': 550.77}, {'connected_gene': 'FBXO31', 'score': 6.17}, {'connected_gene': 'ZCCHC14', 'score': 0.37}]
chr16 GH16I087325 87325363 87327602 0.43 [{'connected_gene': 'PIR60566', 'score': 550.77}, {'connected_gene': 'ENSG00000270082', 'score': 550.77}, {'connected_gene': 'PIR45740', 'score': 550.77}, {'connected_gene': 'FBXO31', 'score': 17.78}, {'connected_gene': 'C16orf95', 'score': 7.57}, {'connected_gene': 'ENSG00000131152', 'score': 0.44}, {'connected_gene': 'LOC101928659', 'score': 0.44}]
chr16 GH16I087297 87297995 87298144 0.54 [{'connected_gene': 'ENSG00000280419', 'score': 550.77}, {'connected_gene': 'FBXO31', 'score': 10.82}, {'connected_gene': 'C16orf95', 'score': 0.37}]
chr16 GH16I087362 87362339 87363221 0.43 [{'connected_gene': 'ENSG00000269901', 'score': 550.77}, {'connected_gene': 'FBXO31', 'score': 10.43}, {'connected_gene': 'PIR52096', 'score': 0.77}]
chr16 GH16I087329 87329003 87330228 0.2 [{'connected_gene': 'PIR41100', 'score': 550.77}, {'connected_gene': 'PIR38647', 'score': 550.77}, {'connected_gene': 'PIR45740', 'score': 550.77}, {'connected_gene': 'FBXO31', 'score': 12.21}, {'connected_gene': 'ENSG00000131152', 'score': 0.77}]
chr16 GH16I087366 87366393 87366868 0.31 [{'connected_gene': 'PIR52096', 'score': 550.77}, {'connected_gene': 'ENSG00000269901', 'score': 0.77}, {'connected_gene': 'FBXO31', 'score': 0.31}]
chr16 GH16I087363 87363395 87364746 0.8 [{'connected_gene': 'ENSG00000269901', 'score': 550.77}, {'connected_gene': 'FBXO31', 'score': 10.12}, {'connected_gene': 'PIR52096', 'score': 0.77}]
chr16 GH16I087360 87360423 87362092 0.38 [{'connected_gene': 'ENSG00000269901', 'score': 550.77}, {'connected_gene': 'KLHDC4', 'score': 14.06}, {'connected_gene': 'FBXO31', 'score': 12.8}, {'connected_gene': 'MTHFSD', 'score': 11.73}, {'connected_gene': 'ENSG00000131152', 'score': 11.52}, {'connected_gene': 'C16orf95', 'score': 11.47}, {'connected_gene': 'ZCCHC14', 'score': 10.19}]
chr16 GH16I087407 87407195 87408182 1.15 [{'connected_gene': 'ENSG00000131152', 'score': 11.41}, {'connected_gene': 'C16orf95', 'score': 11.37}, {'connected_gene': 'FBXO31', 'score': 7.58}, {'connected_gene': 'ENSG00000261592', 'score': 0.44}, {'connected_gene': 'NR3C1P1', 'score': 0.22}, {'connected_gene': 'ZCCHC14', 'score': 0.18}]
chr16 GH16I087332 87332670 87333495 0.2 [{'connected_gene': 'ENSG00000131152', 'score': 550.77}, {'connected_gene': 'C16orf95', 'score': 8.01}, {'connected_gene': 'PIR41100', 'score': 0.77}, {'connected_gene': 'FBXO31', 'score': 0.22}]