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
ENST00000371146 [[62901974, 62902233], [62905469, 62905708], [62907158, 62907279], [62907865, 62907970], [62908829, 62908990], [62910408, 62911100], [62913011, 62913182], [62914135, 62914337], [62915916, 62917473]] [[62905538, 62905708], [62907158, 62907279], [62907865, 62907970], [62908829, 62908990], [62910408, 62911100], [62913011, 62913182], [62914135, 62914337], [62915916, 62916652]]
ENST00000339950 [[62902325, 62903071], [62905469, 62905708], [62907158, 62907279], [62907865, 62907970], [62908829, 62908990], [62910408, 62911100], [62913011, 62913182], [62914135, 62914337], [62915916, 62917475]] [[62905538, 62905708], [62907158, 62907279], [62907865, 62907970], [62908829, 62908990], [62910408, 62911100], [62913011, 62913182], [62914135, 62914337], [62915916, 62916652]]
ENST00000452143 [[62901967, 62902233], [62905469, 62905708], [62907158, 62907279], [62907865, 62907970], [62908829, 62908991]] [[62905538, 62905708], [62907158, 62907279], [62907865, 62907970], [62908829, 62908991]]
ENST00000442679 [[62901968, 62902138], [62905469, 62905708], [62907158, 62907251]] [[62905538, 62905708], [62907158, 62907251]]
NM_001017416 [[62901974, 62902138], [62905469, 62905708], [62907158, 62907279], [62907865, 62907970], [62908829, 62908990], [62910408, 62911100], [62913011, 62913182], [62914135, 62914337], [62915916, 62917475]] [[62905538, 62905708], [62907158, 62907279], [62907865, 62907970], [62908829, 62908990], [62910408, 62911100], [62913011, 62913182], [62914135, 62914337], [62915916, 62916652]]
NM_001017415 [[62901974, 62902233], [62905469, 62905708], [62907158, 62907279], [62907865, 62907970], [62908829, 62908990], [62910408, 62911100], [62913011, 62913182], [62914135, 62914337], [62915916, 62917475]] [[62905538, 62905708], [62907158, 62907279], [62907865, 62907970], [62908829, 62908990], [62910408, 62911100], [62913011, 62913182], [62914135, 62914337], [62915916, 62916652]]
NM_003368 [[62902382, 62903071], [62905469, 62905708], [62907158, 62907279], [62907865, 62907970], [62908829, 62908990], [62910408, 62911100], [62913011, 62913182], [62914135, 62914337], [62915916, 62917475]] [[62905538, 62905708], [62907158, 62907279], [62907865, 62907970], [62908829, 62908990], [62910408, 62911100], [62913011, 62913182], [62914135, 62914337], [62915916, 62916652]]
Promoter
Chrom Start End Description
chr1 62902035 62902075 CAGE_peak_4_at_USP1_5end
chr1 62902308 62902335 CAGE_peak_9_at_USP1_5end
chr1 62902336 62902387 CAGE_peak_2_at_USP1_5end
chr1 62902414 62902438 CAGE_peak_5_at_USP1_5end
chr1 62902537 62902560 CAGE_peak_6_at_USP1_5end
chr1 62902651 62902673 CAGE_peak_3_at_USP1_5end
chr1 62902687 62902806 CAGE_peak_1_at_USP1_5end
chr1 62902937 62902960 CAGE_peak_11_at_USP1_5end
chr1 62903005 62903020 CAGE_peak_23_at_USP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I062485 62485001 62485200 0.43 [{'connected_gene': 'DOCK7', 'score': 16.54}, {'connected_gene': 'ATG4C', 'score': 10.36}, {'connected_gene': 'ENSG00000270549', 'score': 0.25}, {'connected_gene': 'USP1', 'score': 0.25}]
chr1 GH01I062483 62483277 62483645 0.22 [{'connected_gene': 'DOCK7', 'score': 18.56}, {'connected_gene': 'ATG4C', 'score': 12.35}, {'connected_gene': 'KANK4', 'score': 1.85}, {'connected_gene': 'USP1', 'score': 1.54}, {'connected_gene': 'ENSG00000270549', 'score': 0.25}]
chr1 GH01I062462 62462639 62462937 0.56 [{'connected_gene': 'DOCK7', 'score': 15.85}, {'connected_gene': 'USP1', 'score': 10.73}, {'connected_gene': 'KANK4', 'score': 5.59}, {'connected_gene': 'ATG4C', 'score': 1.68}, {'connected_gene': 'ENSG00000270549', 'score': 0.2}]
chr1 GH01I062440 62440435 62441581 0.38 [{'connected_gene': 'DOCK7', 'score': 18.8}, {'connected_gene': 'USP1', 'score': 0.77}, {'connected_gene': 'ENSG00000270549', 'score': 0.17}]
chr1 GH01I062514 62514801 62515400 0.49 [{'connected_gene': 'DOCK7', 'score': 17.0}, {'connected_gene': 'ANGPTL3', 'score': 11.22}, {'connected_gene': 'ENSG00000270549', 'score': 0.37}, {'connected_gene': 'USP1', 'score': 0.18}]
chr1 GH01I062686 62686685 62692108 2.25 [{'connected_gene': 'DOCK7', 'score': 570.46}, {'connected_gene': 'ENSG00000235545', 'score': 550.77}, {'connected_gene': 'ITGB3BP', 'score': 14.4}, {'connected_gene': 'USP1', 'score': 13.98}, {'connected_gene': 'ATG4C', 'score': 10.48}]
chr1 GH01I061723 61723895 61726328 2.09 [{'connected_gene': 'TM2D1', 'score': 550.77}, {'connected_gene': 'ENSG00000270742', 'score': 22.03}, {'connected_gene': 'USP1', 'score': 15.93}, {'connected_gene': 'GC01M061668', 'score': 0.22}]
chr1 GH01I062435 62435284 62440261 2.51 [{'connected_gene': 'USP1', 'score': 550.77}, {'connected_gene': 'DOCK7', 'score': 19.3}, {'connected_gene': 'ATG4C', 'score': 9.7}, {'connected_gene': 'ENSG00000270549', 'score': 0.16}]
chr1 GH01I062356 62356400 62357000 1.31 [{'connected_gene': 'USP1', 'score': 81.06}, {'connected_gene': 'ENSG00000271200', 'score': 36.61}, {'connected_gene': 'TM2D1', 'score': 23.17}, {'connected_gene': 'DOCK7', 'score': 22.04}, {'connected_gene': 'KANK4', 'score': 17.19}, {'connected_gene': 'LOC105378768', 'score': 0.2}]
chr1 GH01I061966 61966167 61967578 0.77 [{'connected_gene': 'USP1', 'score': 12.65}, {'connected_gene': 'ENSG00000270742', 'score': 12.61}, {'connected_gene': 'L1TD1', 'score': 4.67}, {'connected_gene': 'PATJ', 'score': 4.47}, {'connected_gene': 'GC01P061916', 'score': 0.23}, {'connected_gene': 'LAMTOR5P1', 'score': 0.19}]
chr1 GH01I062232 62232859 62233058 0.56 [{'connected_gene': 'USP1', 'score': 16.97}, {'connected_gene': 'KANK4', 'score': 14.75}, {'connected_gene': 'L1TD1', 'score': 4.19}, {'connected_gene': 'GC01M062237', 'score': 0.44}, {'connected_gene': 'GC01P062219', 'score': 0.39}]
chr1 GH01I061637 61637591 61642507 1.42 [{'connected_gene': 'USP1', 'score': 11.26}, {'connected_gene': 'RNU6-1177P', 'score': 10.88}, {'connected_gene': 'NFIA-AS2', 'score': 10.05}, {'connected_gene': 'MGC34796', 'score': 0.39}, {'connected_gene': 'LOC105378766', 'score': 0.19}]
chr1 GH01I061605 61605085 61607833 0.9 [{'connected_gene': 'USP1', 'score': 13.94}, {'connected_gene': 'NFIA-AS2', 'score': 9.9}, {'connected_gene': 'LOC105378766', 'score': 0.28}, {'connected_gene': 'MGC34796', 'score': 0.25}]
chr1 GH01I062448 62448321 62449090 0.43 [{'connected_gene': 'USP1', 'score': 0.39}, {'connected_gene': 'ENSG00000270549', 'score': 0.18}]
chr1 GH01I063316 63316187 63318942 1.45 [{'connected_gene': 'LINC00466', 'score': 555.47}, {'connected_gene': 'ITGB3BP', 'score': 19.01}, {'connected_gene': 'USP1', 'score': 12.66}, {'connected_gene': 'FOXD3', 'score': 0.44}]
chr1 GH01I061950 61950291 61952978 0.92 [{'connected_gene': 'PATJ', 'score': 6.92}, {'connected_gene': 'USP1', 'score': 2.23}, {'connected_gene': 'KANK4', 'score': 1.94}, {'connected_gene': 'GC01P061916', 'score': 0.28}, {'connected_gene': 'LAMTOR5P1', 'score': 0.17}]