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
ENST00000412107 [[38537617, 38538021], [38538333, 38538420], [38539119, 38539180], [38540257, 38540327], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38565904]] [[38537858, 38538021], [38538333, 38538341]]
ENST00000436414 [[38537762, 38538021], [38539119, 38539175], [38540416, 38540480], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38566359]] [[38537858, 38538021], [38539119, 38539175], [38540416, 38540443]]
ENST00000287675 [[38537762, 38538021], [38539119, 38539269], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38567442]] [[38537858, 38538021], [38539119, 38539269], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38565853]]
ENST00000358249 [[38537762, 38538021], [38539119, 38539269], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38565436], [38583257, 38583437]] [[38542952, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38565436], [38583257, 38583437]]
ENST00000443942 [[38537830, 38538021], [38538333, 38538420], [38539119, 38539269], [38542845, 38542993]] [[38537858, 38538021], [38538333, 38538341]]
ENST00000431472 [[38537832, 38538021], [38539119, 38539269], [38541171, 38541238], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38565908]] [[38537858, 38538021], [38539119, 38539269], [38541171, 38541182]]
ENST00000447573 [[38537833, 38538021], [38538333, 38538420], [38539119, 38539269], [38541580, 38541655], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38566309]] [[38537858, 38538021], [38538333, 38538341]]
ENST00000489813 [[38537835, 38538021], [38539119, 38539513]] None
ENST00000422077 [[38537835, 38538021], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38566190]] [[38537858, 38538021], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38565853]]
ENST00000454803 [[38537835, 38538021], [38539119, 38539175], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38555240, 38555359], [38565391, 38565894], [38566089, 38566441]] [[38537858, 38538021], [38539119, 38539175], [38542845, 38542985], [38545105, 38545182], [38548344, 38548349]]
ENST00000438992 [[38537855, 38538021], [38538333, 38538420], [38539119, 38539175], [38540416, 38540480], [38541171, 38541238], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38566059]] [[38537858, 38538021], [38538333, 38538341]]
ENST00000457367 [[38537855, 38538021], [38539119, 38539269], [38540416, 38540480], [38541171, 38541238], [38541580, 38541655], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38566612]] [[38537858, 38538021], [38539119, 38539269], [38540416, 38540480], [38541171, 38541226]]
ENST00000453767 [[38537971, 38538021], [38539119, 38539269], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38564663, 38564707]] [[38537971, 38538021], [38539119, 38539269], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38564663, 38564693]]
ENST00000450732 [[38537975, 38538021], [38539119, 38539175], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38560752, 38560868], [38565391, 38565551]] [[38537975, 38538021], [38539119, 38539175], [38542845, 38542985], [38545105, 38545182], [38548344, 38548349]]
ENST00000470291 [[38537982, 38538021], [38538333, 38538420], [38539119, 38539180], [38542906, 38542985], [38545105, 38545182], [38548344, 38548377], [38555263, 38555342]] [[38537982, 38538021], [38538333, 38538341]]
ENST00000474071 [[38538228, 38539180], [38541580, 38541655], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38565436], [38583257, 38583652]] None
ENST00000483749 [[38542652, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38565737]] None
NM_001145464 [[38537762, 38538021], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38567796]] [[38537858, 38538021], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38565853]]
NR_134938 [[38537762, 38538021], [38539119, 38539175], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38555240, 38555359], [38565391, 38565894], [38566089, 38567796]] None
NM_001318954 [[38537762, 38538021], [38539119, 38539175], [38540416, 38540480], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38567796]] [[38542952, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38565853]]
NM_005107 [[38537762, 38538021], [38539119, 38539269], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38567796]] [[38537858, 38538021], [38539119, 38539269], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38565853]]
NM_001318956 [[38537762, 38538021], [38539119, 38539269], [38541171, 38541238], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38567796]] [[38542952, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38565853]]
NM_001318957 [[38537762, 38538021], [38539119, 38539269], [38540416, 38540480], [38541171, 38541238], [38541580, 38541655], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38567796]] [[38542952, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38565853]]
NM_001318958 [[38537762, 38538021], [38538333, 38538420], [38539119, 38539175], [38540416, 38540480], [38541171, 38541238], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38567796]] [[38542952, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38565853]]
NM_001318955 [[38537762, 38538021], [38538333, 38538420], [38539119, 38539180], [38540257, 38540327], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38567796]] [[38542952, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38565853]]
NM_001318959 [[38537762, 38538021], [38538333, 38538420], [38539119, 38539269], [38541580, 38541655], [38542845, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38567796]] [[38542952, 38542985], [38545105, 38545182], [38548344, 38548459], [38565391, 38565853]]
Promoter
Chrom Start End Description
chr3 38537821 38537858 CAGE_peak_1_at_EXOG_5end
chr3 38537960 38537989 CAGE_peak_2_at_EXOG_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I038426 38426463 38427727 0.63 [{'connected_gene': 'EXOG', 'score': 13.28}, {'connected_gene': 'ACVR2B', 'score': 0.31}, {'connected_gene': 'PIR42930', 'score': 0.28}, {'connected_gene': 'XYLB', 'score': 0.18}]
chr3 GH03I038421 38421601 38422397 0.4 [{'connected_gene': 'EXOG', 'score': 4.21}, {'connected_gene': 'PIR42930', 'score': 0.29}, {'connected_gene': 'ACVR2B', 'score': 0.29}, {'connected_gene': 'XYLB', 'score': 0.18}]
chr3 GH03I038547 38547659 38549502 0.51 [{'connected_gene': 'EXOG', 'score': 5.34}, {'connected_gene': 'PIR55116', 'score': 0.39}, {'connected_gene': 'GC03M038560', 'score': 0.39}, {'connected_gene': 'SCN5A', 'score': 0.15}]
chr3 GH03I038495 38495413 38497299 2.02 [{'connected_gene': 'EXOG', 'score': 566.37}, {'connected_gene': 'SNORA62', 'score': 23.98}, {'connected_gene': 'GORASP1', 'score': 23.26}, {'connected_gene': 'OXSR1', 'score': 23.07}, {'connected_gene': 'GC03M038505', 'score': 0.44}, {'connected_gene': 'ENSG00000207512', 'score': 0.44}]
chr3 GH03I038518 38518367 38519438 0.52 [{'connected_gene': 'EXOG', 'score': 17.58}, {'connected_gene': 'RNU6-1227P', 'score': 9.93}, {'connected_gene': 'DDTP1', 'score': 0.77}, {'connected_gene': 'PIR53114', 'score': 0.44}]
chr3 GH03I038457 38457530 38461847 0.88 [{'connected_gene': 'EXOG', 'score': 25.59}, {'connected_gene': 'RNU6-1227P', 'score': 9.3}, {'connected_gene': 'ACVR2B-AS1', 'score': 0.77}, {'connected_gene': 'ACVR2B', 'score': 0.44}, {'connected_gene': 'GC03P038491', 'score': 0.29}]
chr3 GH03I038519 38519640 38520283 0.72 [{'connected_gene': 'EXOG', 'score': 6.94}, {'connected_gene': 'DDTP1', 'score': 0.77}, {'connected_gene': 'PIR53114', 'score': 0.77}]
chr3 GH03I038529 38529582 38530597 0.31 [{'connected_gene': 'EXOG', 'score': 6.79}, {'connected_gene': 'PIR49321', 'score': 0.77}, {'connected_gene': 'PIR46951', 'score': 0.77}]
chr3 GH03I038246 38246990 38248324 0.6 [{'connected_gene': 'SLC22A14', 'score': 11.34}, {'connected_gene': 'ACAA1', 'score': 10.25}, {'connected_gene': 'RNU6-1227P', 'score': 9.01}, {'connected_gene': 'EXOG', 'score': 4.28}, {'connected_gene': 'GC03P038253', 'score': 0.44}, {'connected_gene': 'PIR62277', 'score': 0.44}, {'connected_gene': 'OXSR1', 'score': 0.18}, {'connected_gene': 'LOC101928234', 'score': 0.18}]
chr3 GH03I038538 38538772 38546493 1.6 [{'connected_gene': 'ACVR2B', 'score': 4.61}, {'connected_gene': 'PIR55116', 'score': 0.77}, {'connected_gene': 'GC03M038560', 'score': 0.37}, {'connected_gene': 'EXOG', 'score': 0.25}]
chr3 GH03I039260 39260078 39264985 1.28 [{'connected_gene': 'CSRNP1', 'score': 11.64}, {'connected_gene': 'XIRP1', 'score': 11.6}, {'connected_gene': 'TTC21A', 'score': 10.36}, {'connected_gene': 'GORASP1', 'score': 10.36}, {'connected_gene': 'RNU6-1227P', 'score': 9.17}, {'connected_gene': 'RPSA', 'score': 7.9}, {'connected_gene': 'CX3CR1', 'score': 5.39}, {'connected_gene': 'EXOG', 'score': 4.2}, {'connected_gene': 'LOC102724104', 'score': 0.29}]
chr3 GH03I039145 39145744 39156449 2.84 [{'connected_gene': 'CSRNP1', 'score': 562.05}, {'connected_gene': 'ENSG00000283849', 'score': 550.77}, {'connected_gene': 'LOC101928263', 'score': 550.77}, {'connected_gene': 'GORASP1', 'score': 52.31}, {'connected_gene': 'TTC21A', 'score': 23.41}, {'connected_gene': 'SNORA62', 'score': 22.39}, {'connected_gene': 'CX3CR1', 'score': 22.21}, {'connected_gene': 'XIRP1', 'score': 11.47}, {'connected_gene': 'MOBP', 'score': 11.35}, {'connected_gene': 'ACVR2B-AS1', 'score': 9.87}, {'connected_gene': 'OXSR1', 'score': 9.69}, {'connected_gene': 'EXOG', 'score': 4.75}, {'connected_gene': 'WDR48', 'score': 1.88}, {'connected_gene': 'ENSG00000284669', 'score': 0.77}]
chr3 GH03I039258 39258514 39259589 0.2 [{'connected_gene': 'CX3CR1', 'score': 12.65}, {'connected_gene': 'CSRNP1', 'score': 11.64}, {'connected_gene': 'RPSA', 'score': 5.02}, {'connected_gene': 'EXOG', 'score': 4.2}, {'connected_gene': 'LOC102724104', 'score': 0.31}]
chr3 GH03I038516 38516312 38518042 0.68 [{'connected_gene': 'DDTP1', 'score': 550.77}, {'connected_gene': 'EXOG', 'score': 17.6}, {'connected_gene': 'RNU6-1227P', 'score': 9.78}, {'connected_gene': 'PIR53114', 'score': 0.44}]
chr3 GH03I038452 38452750 38456796 2.01 [{'connected_gene': 'ACVR2B-AS1', 'score': 550.77}, {'connected_gene': 'ACVR2B', 'score': 550.77}, {'connected_gene': 'EXOG', 'score': 13.74}, {'connected_gene': 'XYLB', 'score': 0.14}]
chr3 GH03I038531 38531396 38534541 0.89 [{'connected_gene': 'PIR46951', 'score': 550.77}, {'connected_gene': 'EXOG', 'score': 15.98}, {'connected_gene': 'PIR44042', 'score': 0.77}]
chr3 GH03I038521 38521490 38521659 0.82 [{'connected_gene': 'PIR53114', 'score': 0.77}, {'connected_gene': 'DDTP1', 'score': 0.44}, {'connected_gene': 'EXOG', 'score': 0.31}]
chr3 GH03I038527 38527146 38527730 0.47 [{'connected_gene': 'PIR61865', 'score': 550.77}, {'connected_gene': 'PIR49321', 'score': 550.77}, {'connected_gene': 'PIR31167', 'score': 550.77}, {'connected_gene': 'GC03P038527', 'score': 550.77}, {'connected_gene': 'PIR44083', 'score': 550.77}, {'connected_gene': 'PIR53009', 'score': 550.77}, {'connected_gene': 'RPL18AP7', 'score': 550.77}, {'connected_gene': 'EXOG', 'score': 13.51}, {'connected_gene': 'SCN10A', 'score': 5.03}, {'connected_gene': 'SLC22A14', 'score': 4.8}, {'connected_gene': 'SCN11A', 'score': 1.51}]
chr3 GH03I038528 38528570 38528719 0.51 [{'connected_gene': 'PIR61865', 'score': 550.77}, {'connected_gene': 'PIR49321', 'score': 550.77}, {'connected_gene': 'PIR31167', 'score': 550.77}, {'connected_gene': 'GC03P038527', 'score': 550.77}, {'connected_gene': 'PIR44083', 'score': 550.77}, {'connected_gene': 'RPL18AP7', 'score': 550.77}, {'connected_gene': 'PIR46951', 'score': 0.77}, {'connected_gene': 'EXOG', 'score': 0.29}]

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