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
ENST00000005257 [[39663081, 39663424], [39726229, 39726380], [39729980, 39730189], [39736283, 39736458], [39745721, 39747723]] [[39726266, 39726380], [39729980, 39730189], [39736283, 39736458], [39745721, 39745844]]
ENST00000468201 [[39663163, 39663424], [39736283, 39736458], [39745721, 39745990]] None
ENST00000436179 [[39663484, 39664026], [39726229, 39726380], [39729980, 39730169]] [[39726266, 39726380], [39729980, 39730169]]
ENST00000434466 [[39726285, 39726380], [39729980, 39730189], [39736283, 39736458], [39737006, 39737109], [39745721, 39745907]] [[39726285, 39726380], [39729980, 39730189], [39736283, 39736458], [39737006, 39737021]]
ENST00000466491 [[39740478, 39740618], [39745721, 39745901]] None
NM_005402 [[39663151, 39663424], [39726229, 39726380], [39729980, 39730189], [39736283, 39736458], [39745721, 39747723]] [[39726266, 39726380], [39729980, 39730189], [39736283, 39736458], [39745721, 39745844]]
Promoter
Chrom Start End Description
chr7 39663061 39663072 CAGE_peak_6_at_RALA_5end
chr7 39663146 39663225 CAGE_peak_1_at_RALA_5end
chr7 39663255 39663276 CAGE_peak_3_at_RALA_5end
chr7 39663286 39663317 CAGE_peak_2_at_RALA_5end
chr7 39663534 39663558 CAGE_peak_5_at_RALA_5end
chr7 39663923 39663926 CAGE_peak_4_at_RALA_5end
chr7 39663958 39663960 CAGE_peak_9_at_RALA_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I039591 39591984 39593864 1.34 [{'connected_gene': 'CDK13', 'score': 14.03}, {'connected_gene': 'MPLKIP', 'score': 12.37}, {'connected_gene': 'LINC00265', 'score': 9.78}, {'connected_gene': 'RALA', 'score': 8.87}, {'connected_gene': 'GC07P039582', 'score': 0.39}, {'connected_gene': 'GC07P039609', 'score': 0.37}, {'connected_gene': 'YAE1D1', 'score': 0.31}]
chr7 GH07I039742 39742087 39742858 0.85 [{'connected_gene': 'RALA', 'score': 11.89}, {'connected_gene': 'YAE1D1', 'score': 11.18}, {'connected_gene': 'LOC105375240', 'score': 11.18}, {'connected_gene': 'LINC00265', 'score': 10.67}, {'connected_gene': 'RNU6-719P', 'score': 0.31}]
chr7 GH07I039750 39750362 39750511 0.68 [{'connected_gene': 'RALA', 'score': 10.62}, {'connected_gene': 'YAE1D1', 'score': 9.92}, {'connected_gene': 'LOC105375240', 'score': 9.92}, {'connected_gene': 'LINC00265', 'score': 0.37}, {'connected_gene': 'RNU6-719P', 'score': 0.37}]
chr7 GH07I039751 39750545 39750980 0.68 [{'connected_gene': 'RALA', 'score': 10.62}, {'connected_gene': 'YAE1D1', 'score': 9.92}, {'connected_gene': 'LOC105375240', 'score': 9.92}, {'connected_gene': 'LINC00265', 'score': 0.37}, {'connected_gene': 'RNU6-719P', 'score': 0.37}]
chr7 GH07I039749 39749302 39749838 0.63 [{'connected_gene': 'RALA', 'score': 11.39}, {'connected_gene': 'YAE1D1', 'score': 11.04}, {'connected_gene': 'LOC105375240', 'score': 11.04}, {'connected_gene': 'LINC00265', 'score': 0.37}, {'connected_gene': 'RNU6-719P', 'score': 0.37}]
chr7 GH07I039745 39745649 39747449 0.95 [{'connected_gene': 'RALA', 'score': 11.69}, {'connected_gene': 'YAE1D1', 'score': 11.19}, {'connected_gene': 'LOC105375240', 'score': 11.19}, {'connected_gene': 'LINC00265', 'score': 6.95}, {'connected_gene': 'RNU6-719P', 'score': 0.34}]
chr7 GH07I039588 39588159 39591441 1.69 [{'connected_gene': 'RALA', 'score': 22.6}, {'connected_gene': 'YAE1D1', 'score': 11.64}, {'connected_gene': 'LOC105375240', 'score': 11.64}, {'connected_gene': 'LINC00265', 'score': 4.09}, {'connected_gene': 'GC07P039582', 'score': 0.44}, {'connected_gene': 'GC07P039609', 'score': 0.37}]
chr7 GH07I039727 39727401 39727600 0.2 [{'connected_gene': 'RALA', 'score': 11.8}, {'connected_gene': 'YAE1D1', 'score': 9.8}, {'connected_gene': 'LOC105375240', 'score': 9.8}, {'connected_gene': 'LINC00265', 'score': 0.44}, {'connected_gene': 'ENSG00000228554', 'score': 0.34}]
chr7 GH07I039723 39723582 39723731 0.2 [{'connected_gene': 'RALA', 'score': 10.72}, {'connected_gene': 'YAE1D1', 'score': 10.25}, {'connected_gene': 'LOC105375240', 'score': 10.25}, {'connected_gene': 'LINC00265', 'score': 0.44}, {'connected_gene': 'ENSG00000228554', 'score': 0.34}]
chr7 GH07I039708 39708897 39710724 0.66 [{'connected_gene': 'RALA', 'score': 11.23}, {'connected_gene': 'YAE1D1', 'score': 9.94}, {'connected_gene': 'LOC105375240', 'score': 9.94}, {'connected_gene': 'LINC00265', 'score': 7.22}, {'connected_gene': 'ENSG00000228554', 'score': 0.44}]
chr7 GH07I039604 39604128 39606671 0.9 [{'connected_gene': 'RALA', 'score': 12.1}, {'connected_gene': 'YAE1D1', 'score': 10.96}, {'connected_gene': 'LOC105375240', 'score': 10.96}, {'connected_gene': 'GC07P039609', 'score': 0.77}, {'connected_gene': 'GC07P039582', 'score': 0.34}]
chr7 GH07I039666 39666682 39666831 0.31 [{'connected_gene': 'RALA', 'score': 12.45}, {'connected_gene': 'ENSG00000231951', 'score': 12.35}, {'connected_gene': 'YAE1D1', 'score': 10.13}, {'connected_gene': 'LOC105375240', 'score': 10.13}, {'connected_gene': 'GC07M039668', 'score': 0.37}]
chr7 GH07I039682 39682318 39682517 0.2 [{'connected_gene': 'RALA', 'score': 12.21}, {'connected_gene': 'ENSG00000231951', 'score': 11.6}, {'connected_gene': 'YAE1D1', 'score': 10.49}, {'connected_gene': 'LOC105375240', 'score': 10.49}, {'connected_gene': 'GC07M039668', 'score': 0.77}]
chr7 GH07I039667 39667347 39667753 0.38 [{'connected_gene': 'RALA', 'score': 12.45}, {'connected_gene': 'ENSG00000231951', 'score': 12.35}, {'connected_gene': 'YAE1D1', 'score': 10.13}, {'connected_gene': 'LOC105375240', 'score': 10.13}, {'connected_gene': 'GC07M039668', 'score': 0.37}]
chr7 GH07I039580 39580201 39581000 1.11 [{'connected_gene': 'RALA', 'score': 11.85}, {'connected_gene': 'LINC00265', 'score': 5.25}, {'connected_gene': 'GC07P039582', 'score': 0.77}, {'connected_gene': 'LOC100101126', 'score': 0.39}, {'connected_gene': 'YAE1D1', 'score': 0.39}]
chr7 GH07I039620 39620339 39627104 2.44 [{'connected_gene': 'RALA', 'score': 550.77}, {'connected_gene': 'LINC00265', 'score': 20.58}, {'connected_gene': 'GC07M039668', 'score': 0.21}]
chr7 GH07I039632 39632915 39634708 0.92 [{'connected_gene': 'RALA', 'score': 0.39}, {'connected_gene': 'GC07M039668', 'score': 0.23}]
chr7 GH07I039633 39632082 39632197 0.2 [{'connected_gene': 'RALA', 'score': 0.44}, {'connected_gene': 'GC07M039668', 'score': 0.23}]
chr7 GH07I039565 39565514 39567409 2.04 [{'connected_gene': 'YAE1D1', 'score': 550.77}, {'connected_gene': 'LOC105375240', 'score': 550.77}, {'connected_gene': 'CDK13', 'score': 11.93}, {'connected_gene': 'MPLKIP', 'score': 11.16}, {'connected_gene': 'RALA', 'score': 10.88}, {'connected_gene': 'LINC00265', 'score': 5.66}, {'connected_gene': 'GC07M039569', 'score': 0.77}]
chr7 GH07I039602 39602392 39602619 0.27 [{'connected_gene': 'YAE1D1', 'score': 10.4}, {'connected_gene': 'LOC105375240', 'score': 10.4}, {'connected_gene': 'RALA', 'score': 4.39}, {'connected_gene': 'GC07P039609', 'score': 0.44}, {'connected_gene': 'GC07P039582', 'score': 0.37}]
chr7 GH07I039613 39613154 39614766 1.09 [{'connected_gene': 'YAE1D1', 'score': 10.28}, {'connected_gene': 'LOC105375240', 'score': 10.28}, {'connected_gene': 'RALA', 'score': 5.92}, {'connected_gene': 'GC07P039617', 'score': 0.77}, {'connected_gene': 'ENSG00000231951', 'score': 0.77}]
chr7 GH07I039698 39698962 39699111 0.2 [{'connected_gene': 'YAE1D1', 'score': 10.11}, {'connected_gene': 'LOC105375240', 'score': 10.11}, {'connected_gene': 'ENSG00000228554', 'score': 0.77}, {'connected_gene': 'GC07M039668', 'score': 0.39}, {'connected_gene': 'RALA', 'score': 0.18}]
chr7 GH07I039719 39719542 39722172 1.03 [{'connected_gene': 'LINC00265', 'score': 22.44}, {'connected_gene': 'CDK13', 'score': 11.95}, {'connected_gene': 'MPLKIP', 'score': 11.18}, {'connected_gene': 'RALA', 'score': 10.95}, {'connected_gene': 'YAE1D1', 'score': 10.25}, {'connected_gene': 'LOC105375240', 'score': 10.25}, {'connected_gene': 'ENSG00000228554', 'score': 0.37}]
chr7 GH07I039732 39732280 39736111 2 [{'connected_gene': 'LINC00265', 'score': 580.7}, {'connected_gene': 'CDK13', 'score': 37.02}, {'connected_gene': 'CICP22', 'score': 24.26}, {'connected_gene': 'ENSG00000228554', 'score': 19.91}, {'connected_gene': 'RALA', 'score': 13.95}, {'connected_gene': 'YAE1D1', 'score': 11.31}, {'connected_gene': 'LOC105375240', 'score': 11.31}, {'connected_gene': 'MPLKIP', 'score': 9.88}, {'connected_gene': 'RNU6-719P', 'score': 0.29}]
chr7 GH07I039594 39594507 39595969 0.69 [{'connected_gene': 'LINC00265', 'score': 14.36}, {'connected_gene': 'RALA', 'score': 5.11}, {'connected_gene': 'GC07P039582', 'score': 0.39}, {'connected_gene': 'GC07P039609', 'score': 0.39}, {'connected_gene': 'YAE1D1', 'score': 0.31}]
chr7 GH07I039753 39753787 39756026 0.76 [{'connected_gene': 'LINC00265', 'score': 16.67}, {'connected_gene': 'RALA', 'score': 10.69}, {'connected_gene': 'CICP22', 'score': 10.65}, {'connected_gene': 'YAE1D1', 'score': 10.61}, {'connected_gene': 'LOC105375240', 'score': 10.61}, {'connected_gene': 'CDK13', 'score': 10.42}, {'connected_gene': 'RNU6-719P', 'score': 0.39}]
chr7 GH07I039688 39688588 39689780 0.56 [{'connected_gene': 'LINC00265', 'score': 22.27}, {'connected_gene': 'ENSG00000228554', 'score': 5.43}, {'connected_gene': 'GC07M039668', 'score': 0.77}, {'connected_gene': 'RALA', 'score': 0.2}]
chr7 GH07I039650 39650414 39652259 0.69 [{'connected_gene': 'LINC00265', 'score': 20.45}, {'connected_gene': 'RALA', 'score': 12.1}, {'connected_gene': 'GC07M039668', 'score': 0.29}]
chr7 GH07I039627 39627582 39628479 1.18 [{'connected_gene': 'LINC00265', 'score': 5.73}, {'connected_gene': 'RALA', 'score': 0.44}, {'connected_gene': 'GC07M039668', 'score': 0.22}]
chr7 GH07I039607 39607098 39611630 1.45 [{'connected_gene': 'GC07P039609', 'score': 550.77}, {'connected_gene': 'LOC646999', 'score': 550.77}, {'connected_gene': 'ENSG00000106540', 'score': 550.77}, {'connected_gene': 'ENSG00000231951', 'score': 550.77}, {'connected_gene': 'YAE1D1', 'score': 10.95}, {'connected_gene': 'LOC105375240', 'score': 10.95}, {'connected_gene': 'RALA', 'score': 5.19}, {'connected_gene': 'GC07P039582', 'score': 0.31}]
chr7 GH07I039702 39702162 39702311 0.2 [{'connected_gene': 'ENSG00000228554', 'score': 550.77}, {'connected_gene': 'RALA', 'score': 12.17}, {'connected_gene': 'YAE1D1', 'score': 10.52}, {'connected_gene': 'LOC105375240', 'score': 10.52}, {'connected_gene': 'LINC00265', 'score': 7.61}, {'connected_gene': 'GC07M039668', 'score': 0.37}]
chr7 GH07I039683 39682801 39684600 0.51 [{'connected_gene': 'GC07M039668', 'score': 550.77}, {'connected_gene': 'RALA', 'score': 12.52}, {'connected_gene': 'ENSG00000231951', 'score': 11.6}, {'connected_gene': 'YAE1D1', 'score': 10.49}, {'connected_gene': 'LOC105375240', 'score': 10.49}, {'connected_gene': 'LINC00265', 'score': 10.37}]
chr7 GH07I039686 39686262 39686411 0.64 [{'connected_gene': 'GC07M039668', 'score': 550.77}, {'connected_gene': 'ENSG00000228554', 'score': 0.37}, {'connected_gene': 'RALA', 'score': 0.21}]
chr7 GH07I039616 39616229 39616456 0.68 [{'connected_gene': 'GC07P039617', 'score': 550.77}, {'connected_gene': 'RALA', 'score': 1.99}, {'connected_gene': 'ENSG00000231951', 'score': 0.44}]
chr7 GH07I039687 39686542 39686691 0.6 [{'connected_gene': 'GC07M039668', 'score': 550.77}, {'connected_gene': 'ENSG00000228554', 'score': 0.37}, {'connected_gene': 'RALA', 'score': 0.21}]