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
ENST00000298492 [[126490353, 126490470], [126495399, 126495490], [126505144, 126505181], [126507952, 126508019], [126515163, 126515354], [126517324, 126517444], [126517961, 126518046], [126519917, 126520032], [126523070, 126525239]] [[126490398, 126490470], [126495399, 126495490], [126505144, 126505181], [126507952, 126508019], [126515163, 126515354], [126517324, 126517444], [126517961, 126518046], [126519917, 126520032], [126523070, 126523540]]
Promoter
Chrom Start End Description
chr10 126490369 126490395 CAGE_peak_1_at_FAM175B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I124635 124635728 124643335 1.56 [{'connected_gene': 'FAM53B', 'score': 27.8}, {'connected_gene': 'CHST15', 'score': 11.26}, {'connected_gene': 'ABRAXAS2', 'score': 10.64}, {'connected_gene': 'ZRANB1', 'score': 9.08}, {'connected_gene': 'EEF1AKMT2', 'score': 8.36}, {'connected_gene': 'GC10M124645', 'score': 0.39}, {'connected_gene': 'PIR48648', 'score': 0.39}, {'connected_gene': 'FAM53B-AS1', 'score': 0.21}, {'connected_gene': 'ENSG00000258539', 'score': 0.1}]
chr10 GH10I124731 124731241 124749625 2.69 [{'connected_gene': 'FAM53B', 'score': 561.7}, {'connected_gene': 'EEF1AKMT2', 'score': 66.63}, {'connected_gene': 'ENSG00000234134', 'score': 19.26}, {'connected_gene': 'EDRF1', 'score': 11.31}, {'connected_gene': 'ABRAXAS2', 'score': 11.08}, {'connected_gene': 'GC10P124736', 'score': 0.77}, {'connected_gene': 'ENSG00000258539', 'score': 0.23}]
chr10 GH10I124558 124558419 124561821 0.66 [{'connected_gene': 'FAM53B', 'score': 11.51}, {'connected_gene': 'EEF1AKMT2', 'score': 10.85}, {'connected_gene': 'ABRAXAS2', 'score': 10.15}, {'connected_gene': 'LHPP', 'score': 7.1}, {'connected_gene': 'LOC105378533', 'score': 5.19}, {'connected_gene': 'GC10P124539', 'score': 0.34}, {'connected_gene': 'PIR39838', 'score': 0.34}, {'connected_gene': 'LOC105378539', 'score': 0.22}]
chr10 GH10I124522 124522802 124524199 1.11 [{'connected_gene': 'FAM53B', 'score': 13.83}, {'connected_gene': 'EEF1AKMT2', 'score': 10.79}, {'connected_gene': 'ABRAXAS2', 'score': 10.68}, {'connected_gene': 'NKX1-2', 'score': 10.64}, {'connected_gene': 'LHPP', 'score': 7.4}, {'connected_gene': 'GC10P124510', 'score': 0.39}, {'connected_gene': 'GC10P124539', 'score': 0.37}, {'connected_gene': 'PIR39838', 'score': 0.37}]
chr10 GH10I124557 124557872 124558360 0.2 [{'connected_gene': 'FAM53B', 'score': 11.51}, {'connected_gene': 'EEF1AKMT2', 'score': 10.85}, {'connected_gene': 'ABRAXAS2', 'score': 10.15}, {'connected_gene': 'GC10P124539', 'score': 0.37}, {'connected_gene': 'PIR39838', 'score': 0.37}, {'connected_gene': 'LOC105378539', 'score': 0.22}, {'connected_gene': 'LHPP', 'score': 0.15}]
chr10 GH10I124551 124551952 124552622 0.31 [{'connected_gene': 'FAM53B', 'score': 11.51}, {'connected_gene': 'EEF1AKMT2', 'score': 10.84}, {'connected_gene': 'ABRAXAS2', 'score': 10.15}, {'connected_gene': 'GC10P124539', 'score': 0.39}, {'connected_gene': 'PIR39838', 'score': 0.39}, {'connected_gene': 'LOC105378539', 'score': 0.21}, {'connected_gene': 'LHPP', 'score': 0.16}]
chr10 GH10I124533 124532492 124532641 0.66 [{'connected_gene': 'FAM53B', 'score': 12.82}, {'connected_gene': 'ABRAXAS2', 'score': 10.84}, {'connected_gene': 'GC10P124539', 'score': 0.44}, {'connected_gene': 'PIR39838', 'score': 0.44}, {'connected_gene': 'GC10P124510', 'score': 0.34}, {'connected_gene': 'LHPP', 'score': 0.19}]
chr10 GH10I124534 124534202 124536751 1.07 [{'connected_gene': 'FAM53B', 'score': 17.51}, {'connected_gene': 'ABRAXAS2', 'score': 10.84}, {'connected_gene': 'EEF1AKMT2', 'score': 7.13}, {'connected_gene': 'LHPP', 'score': 6.94}, {'connected_gene': 'CHST15', 'score': 1.95}, {'connected_gene': 'GC10P124539', 'score': 0.77}, {'connected_gene': 'PIR39838', 'score': 0.77}, {'connected_gene': 'GC10P124510', 'score': 0.31}]
chr10 GH10I124532 124532212 124532401 0.65 [{'connected_gene': 'FAM53B', 'score': 12.82}, {'connected_gene': 'ABRAXAS2', 'score': 10.84}, {'connected_gene': 'EEF1AKMT2', 'score': 7.89}, {'connected_gene': 'LHPP', 'score': 7.28}, {'connected_gene': 'GC10P124539', 'score': 0.44}, {'connected_gene': 'PIR39838', 'score': 0.44}, {'connected_gene': 'GC10P124510', 'score': 0.34}]
chr10 GH10I124643 124643693 124645401 0.78 [{'connected_gene': 'FAM53B', 'score': 12.12}, {'connected_gene': 'ABRAXAS2', 'score': 10.65}, {'connected_gene': 'GC10M124645', 'score': 0.37}, {'connected_gene': 'PIR48648', 'score': 0.37}, {'connected_gene': 'FAM53B-AS1', 'score': 0.22}, {'connected_gene': 'ENSG00000258539', 'score': 0.11}]
chr10 GH10I123993 123993613 123998800 1.66 [{'connected_gene': 'CHST15', 'score': 79.75}, {'connected_gene': 'BUB3', 'score': 12.04}, {'connected_gene': 'EEF1AKMT2', 'score': 10.27}, {'connected_gene': 'ABRAXAS2', 'score': 10.04}, {'connected_gene': 'FAM53B', 'score': 7.44}, {'connected_gene': 'ENSG00000234677', 'score': 5.95}, {'connected_gene': 'YBX2P1', 'score': 0.77}, {'connected_gene': 'ENSG00000232334', 'score': 0.44}]
chr10 GH10I124323 124323256 124323419 0.87 [{'connected_gene': 'CHST15', 'score': 11.3}, {'connected_gene': 'ABRAXAS2', 'score': 1.98}, {'connected_gene': 'OAT', 'score': 0.15}, {'connected_gene': 'LOC105378536', 'score': 0.09}]
chr10 GH10I124714 124714748 124730847 1.76 [{'connected_gene': 'EEF1AKMT2', 'score': 46.41}, {'connected_gene': 'FAM53B', 'score': 34.6}, {'connected_gene': 'ABRAXAS2', 'score': 11.06}, {'connected_gene': 'ZRANB1', 'score': 1.76}, {'connected_gene': 'GC10P124736', 'score': 0.39}, {'connected_gene': 'GC10P124712', 'score': 0.39}, {'connected_gene': 'FAM53B-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000258539', 'score': 0.2}]
chr10 GH10I124524 124524965 124525639 0.92 [{'connected_gene': 'EEF1AKMT2', 'score': 16.57}, {'connected_gene': 'FAM53B', 'score': 11.93}, {'connected_gene': 'ABRAXAS2', 'score': 10.68}, {'connected_gene': 'NKX1-2', 'score': 10.63}, {'connected_gene': 'LHPP', 'score': 7.4}, {'connected_gene': 'GC10P124539', 'score': 0.39}, {'connected_gene': 'PIR39838', 'score': 0.39}, {'connected_gene': 'GC10P124510', 'score': 0.37}]
chr10 GH10I124674 124674616 124682194 1.25 [{'connected_gene': 'EEF1AKMT2', 'score': 22.5}, {'connected_gene': 'FAM53B', 'score': 2.33}, {'connected_gene': 'ABRAXAS2', 'score': 1.28}, {'connected_gene': 'FAM53B-AS1', 'score': 0.31}, {'connected_gene': 'GC10M124645', 'score': 0.23}, {'connected_gene': 'PIR48648', 'score': 0.23}, {'connected_gene': 'ENSG00000258539', 'score': 0.14}]
chr10 GH10I124307 124305652 124306166 0.99 [{'connected_gene': 'EEF1AKMT2', 'score': 11.54}, {'connected_gene': 'CTBP2', 'score': 10.81}, {'connected_gene': 'ABRAXAS2', 'score': 1.66}, {'connected_gene': 'CHST15', 'score': 1.36}, {'connected_gene': 'OAT', 'score': 0.14}, {'connected_gene': 'LOC105378536', 'score': 0.1}]
chr10 GH10I124493 124493601 124494600 0.31 [{'connected_gene': 'NKX1-2', 'score': 11.08}, {'connected_gene': 'ABRAXAS2', 'score': 10.8}, {'connected_gene': 'LHPP', 'score': 5.5}, {'connected_gene': 'RPS10P18', 'score': 0.77}, {'connected_gene': 'GC10P124510', 'score': 0.37}]
chr10 GH10I124305 124305195 124305453 0.66 [{'connected_gene': 'ABRAXAS2', 'score': 2.12}, {'connected_gene': 'CHST15', 'score': 1.6}, {'connected_gene': 'OAT', 'score': 0.14}, {'connected_gene': 'LOC105378536', 'score': 0.1}]
chr10 GH10I124529 124529708 124530919 1.13 [{'connected_gene': 'ABRAXAS2', 'score': 21.01}, {'connected_gene': 'EEF1AKMT2', 'score': 18.65}, {'connected_gene': 'FAM53B', 'score': 11.92}, {'connected_gene': 'NKX1-2', 'score': 10.62}, {'connected_gene': 'LHPP', 'score': 7.44}, {'connected_gene': 'GC10P124539', 'score': 0.44}, {'connected_gene': 'PIR39838', 'score': 0.44}, {'connected_gene': 'GC10P124510', 'score': 0.34}]
chr10 GH10I124603 124603756 124606979 1 [{'connected_gene': 'ABRAXAS2', 'score': 10.69}, {'connected_gene': 'EEF1AKMT2', 'score': 9.62}, {'connected_gene': 'LHPP', 'score': 9.01}, {'connected_gene': 'LOC105378539', 'score': 0.39}, {'connected_gene': 'GC10P124539', 'score': 0.2}, {'connected_gene': 'PIR39838', 'score': 0.2}]
chr10 GH10I124800 124800222 124803035 2.01 [{'connected_gene': 'ABRAXAS2', 'score': 550.77}, {'connected_gene': 'EEF1AKMT2', 'score': 18.65}]
chr10 GH10I125053 125053994 125066521 1.4 [{'connected_gene': 'ABRAXAS2', 'score': 10.4}, {'connected_gene': 'MIR4296', 'score': 0.31}, {'connected_gene': 'CTBP2', 'score': 0.15}]
chr10 GH10I124538 124538169 124539375 0.31 [{'connected_gene': 'GC10P124539', 'score': 550.77}, {'connected_gene': 'PIR39838', 'score': 550.77}, {'connected_gene': 'FAM53B', 'score': 12.83}, {'connected_gene': 'ABRAXAS2', 'score': 10.84}, {'connected_gene': 'LOC105378539', 'score': 0.18}, {'connected_gene': 'LHPP', 'score': 0.18}]