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
ENST00000351071 [[51827647, 51827768], [51827864, 51827987], [51829306, 51829471], [51838434, 51838497], [51840517, 51840691], [51843831, 51843925], [51845256, 51845318], [51847034, 51847082], [51850535, 51850646], [51851190, 51851278], [51851921, 51851993], [51853027, 51853146], [51853619, 51853677], [51854907, 51854967], [51855358, 51855538], [51857434, 51857562], [51859737, 51859824], [51863801, 51863903], [51866093, 51866225], [51869860, 51870030], [51873654, 51873757], [51877665, 51877818], [51879346, 51879529], [51884872, 51885001], [51885128, 51885209], [51885816, 51885939], [51887342, 51887555], [51889178, 51889799], [51890660, 51890838], [51892565, 51893266]] [[51827765, 51827768], [51827864, 51827987], [51829306, 51829471], [51838434, 51838497], [51840517, 51840691], [51843831, 51843925], [51845256, 51845318], [51847034, 51847082], [51850535, 51850646], [51851190, 51851278], [51851921, 51851993], [51853027, 51853146], [51853619, 51853677], [51854907, 51854967], [51855358, 51855538], [51857434, 51857562], [51859737, 51859824], [51863801, 51863903], [51866093, 51866225], [51869860, 51870030], [51873654, 51873757], [51877665, 51877818], [51879346, 51879529], [51884872, 51885001], [51885128, 51885209], [51885816, 51885939], [51887342, 51887555], [51889178, 51889799], [51890660, 51890838], [51892565, 51892705]]
ENST00000314664 [[51827647, 51827768], [51827864, 51827987], [51829306, 51829471], [51838434, 51838497], [51840517, 51840691], [51843831, 51843925], [51845256, 51845318], [51847034, 51847082], [51850535, 51850646], [51851190, 51851278], [51851921, 51851993], [51853027, 51853146], [51853619, 51853677], [51854907, 51854967], [51855358, 51855538], [51857434, 51857562], [51859737, 51859824], [51863801, 51863903], [51866093, 51866225], [51869860, 51870030], [51873654, 51873757], [51877665, 51877818], [51879346, 51879529], [51884872, 51885001], [51885128, 51885209], [51887342, 51887555], [51889178, 51889799], [51890660, 51890838], [51892565, 51893266]] [[51827765, 51827768], [51827864, 51827987], [51829306, 51829471], [51838434, 51838497], [51840517, 51840691], [51843831, 51843925], [51845256, 51845318], [51847034, 51847082], [51850535, 51850646], [51851190, 51851278], [51851921, 51851993], [51853027, 51853146], [51853619, 51853677], [51854907, 51854967], [51855358, 51855538], [51857434, 51857562], [51859737, 51859824], [51863801, 51863903], [51866093, 51866225], [51869860, 51870030], [51873654, 51873757], [51877665, 51877818], [51879346, 51879529], [51884872, 51885001], [51885128, 51885209], [51887342, 51887555], [51889178, 51889799], [51890660, 51890838], [51892565, 51892705]]
ENST00000434114 [[51827683, 51827768], [51827864, 51827987], [51829306, 51829471], [51838434, 51838452], [51845256, 51845318], [51847034, 51847082], [51850535, 51850646], [51851190, 51851278], [51851921, 51851993], [51853027, 51853146], [51853619, 51853677], [51854907, 51854967], [51855358, 51855538], [51857434, 51857562], [51859737, 51859824], [51863801, 51863903], [51866093, 51866225], [51869860, 51870030], [51873654, 51873757], [51877665, 51877818], [51879346, 51879529], [51884872, 51885001], [51885128, 51885209], [51885816, 51885939], [51886919, 51886982], [51887342, 51887555], [51889178, 51889544], [51893197, 51893262]] [[51827765, 51827768], [51827864, 51827987], [51829306, 51829471], [51838434, 51838452], [51845256, 51845268]]
ENST00000282633 [[51827720, 51827768], [51827864, 51827987], [51829306, 51829471], [51838434, 51838497], [51840517, 51840691], [51843831, 51843925], [51845256, 51845318], [51847034, 51847082], [51850535, 51850646], [51851190, 51851278], [51851921, 51851993], [51853027, 51853146], [51853619, 51853677], [51854907, 51854967], [51855358, 51855538], [51857434, 51857562], [51859737, 51859824], [51863801, 51863903], [51866093, 51866225], [51869860, 51870030], [51873654, 51873757], [51877665, 51877818], [51879346, 51879529], [51884872, 51885001], [51885128, 51885209], [51885816, 51885939], [51886919, 51886982], [51887342, 51887555], [51889178, 51889799], [51890660, 51890838], [51892565, 51892906]] [[51827765, 51827768], [51827864, 51827987], [51829306, 51829471], [51838434, 51838497], [51840517, 51840691], [51843831, 51843925], [51845256, 51845318], [51847034, 51847082], [51850535, 51850646], [51851190, 51851278], [51851921, 51851993], [51853027, 51853146], [51853619, 51853677], [51854907, 51854967], [51855358, 51855538], [51857434, 51857562], [51859737, 51859824], [51863801, 51863903], [51866093, 51866225], [51869860, 51870030], [51873654, 51873757], [51877665, 51877818], [51879346, 51879529], [51884872, 51885001], [51885128, 51885209], [51885816, 51885939], [51886919, 51886982], [51887342, 51887555], [51889178, 51889799], [51890660, 51890838], [51892565, 51892705]]
ENST00000492914 [[51829269, 51829471], [51838434, 51838497], [51840517, 51840691], [51845256, 51845318], [51847034, 51847082], [51850535, 51850646], [51851190, 51851265]] None
ENST00000399339 [[51837885, 51837912], [51838434, 51838497], [51840517, 51840691], [51843831, 51843925], [51845256, 51845318], [51847034, 51847082], [51850535, 51850646], [51851190, 51851278], [51851921, 51851993], [51853027, 51853146], [51853619, 51853677], [51854907, 51854967], [51855358, 51855538], [51857434, 51857562], [51859737, 51859824], [51863801, 51863903], [51866093, 51866225], [51869860, 51870030], [51873654, 51873757], [51877665, 51877818], [51879346, 51879529], [51884872, 51885001], [51885128, 51885209], [51885816, 51885939], [51886919, 51886982], [51887342, 51887555], [51889178, 51889799], [51890660, 51890838], [51892565, 51893269]] [[51837885, 51837912], [51838434, 51838497], [51840517, 51840691], [51843831, 51843925], [51845256, 51845318], [51847034, 51847082], [51850535, 51850646], [51851190, 51851278], [51851921, 51851993], [51853027, 51853146], [51853619, 51853677], [51854907, 51854967], [51855358, 51855538], [51857434, 51857562], [51859737, 51859824], [51863801, 51863903], [51866093, 51866225], [51869860, 51870030], [51873654, 51873757], [51877665, 51877818], [51879346, 51879529], [51884872, 51885001], [51885128, 51885209], [51885816, 51885939], [51886919, 51886982], [51887342, 51887555], [51889178, 51889799], [51890660, 51890838], [51892565, 51892705]]
ENST00000476514 [[51840635, 51840691], [51843831, 51843925], [51845256, 51845379]] None
ENST00000454806 [[51879409, 51879529], [51884872, 51885001], [51885128, 51885209], [51885816, 51886268]] [[51879409, 51879529], [51884872, 51885001], [51885128, 51885209], [51885816, 51885957]]
NM_001330102 [[51827647, 51827768], [51827864, 51827987], [51829306, 51829471], [51838434, 51838497], [51840517, 51840691], [51843831, 51843925], [51845256, 51845318], [51847034, 51847082], [51850535, 51850646], [51851190, 51851278], [51851921, 51851993], [51853027, 51853146], [51853619, 51853677], [51854907, 51854967], [51855358, 51855538], [51857434, 51857562], [51859737, 51859824], [51863801, 51863903], [51866093, 51866225], [51869860, 51870030], [51873654, 51873757], [51877665, 51877818], [51879346, 51879529], [51884872, 51885001], [51885128, 51885209], [51887342, 51887555], [51889178, 51889799], [51890660, 51890838], [51892565, 51893269]] [[51827765, 51827768], [51827864, 51827987], [51829306, 51829471], [51838434, 51838497], [51840517, 51840691], [51843831, 51843925], [51845256, 51845318], [51847034, 51847082], [51850535, 51850646], [51851190, 51851278], [51851921, 51851993], [51853027, 51853146], [51853619, 51853677], [51854907, 51854967], [51855358, 51855538], [51857434, 51857562], [51859737, 51859824], [51863801, 51863903], [51866093, 51866225], [51869860, 51870030], [51873654, 51873757], [51877665, 51877818], [51879346, 51879529], [51884872, 51885001], [51885128, 51885209], [51887342, 51887555], [51889178, 51889799], [51890660, 51890838], [51892565, 51892705]]
NM_001291398 [[51827647, 51827768], [51827864, 51827987], [51829306, 51829471], [51838434, 51838497], [51840517, 51840691], [51843831, 51843925], [51845256, 51845318], [51847034, 51847082], [51850535, 51850646], [51851190, 51851278], [51851921, 51851993], [51853027, 51853146], [51853619, 51853677], [51854907, 51854967], [51855358, 51855538], [51857434, 51857562], [51859737, 51859824], [51863801, 51863903], [51866093, 51866225], [51869860, 51870030], [51873654, 51873757], [51877665, 51877818], [51879346, 51879529], [51884872, 51885001], [51885128, 51885209], [51885816, 51885939], [51887342, 51887555], [51889178, 51889799], [51890660, 51890838], [51892565, 51893269]] [[51827765, 51827768], [51827864, 51827987], [51829306, 51829471], [51838434, 51838497], [51840517, 51840691], [51843831, 51843925], [51845256, 51845318], [51847034, 51847082], [51850535, 51850646], [51851190, 51851278], [51851921, 51851993], [51853027, 51853146], [51853619, 51853677], [51854907, 51854967], [51855358, 51855538], [51857434, 51857562], [51859737, 51859824], [51863801, 51863903], [51866093, 51866225], [51869860, 51870030], [51873654, 51873757], [51877665, 51877818], [51879346, 51879529], [51884872, 51885001], [51885128, 51885209], [51885816, 51885939], [51887342, 51887555], [51889178, 51889799], [51890660, 51890838], [51892565, 51892705]]
NM_001005751 [[51827647, 51827768], [51827864, 51827987], [51829306, 51829471], [51838434, 51838497], [51840517, 51840691], [51843831, 51843925], [51845256, 51845318], [51847034, 51847082], [51850535, 51850646], [51851190, 51851278], [51851921, 51851993], [51853027, 51853146], [51853619, 51853677], [51854907, 51854967], [51855358, 51855538], [51857434, 51857562], [51859737, 51859824], [51863801, 51863903], [51866093, 51866225], [51869860, 51870030], [51873654, 51873757], [51877665, 51877818], [51879346, 51879529], [51884872, 51885001], [51885128, 51885209], [51885816, 51885939], [51886919, 51886982], [51887342, 51887555], [51889178, 51889799], [51890660, 51890838], [51892565, 51893269]] [[51827765, 51827768], [51827864, 51827987], [51829306, 51829471], [51838434, 51838497], [51840517, 51840691], [51843831, 51843925], [51845256, 51845318], [51847034, 51847082], [51850535, 51850646], [51851190, 51851278], [51851921, 51851993], [51853027, 51853146], [51853619, 51853677], [51854907, 51854967], [51855358, 51855538], [51857434, 51857562], [51859737, 51859824], [51863801, 51863903], [51866093, 51866225], [51869860, 51870030], [51873654, 51873757], [51877665, 51877818], [51879346, 51879529], [51884872, 51885001], [51885128, 51885209], [51885816, 51885939], [51886919, 51886982], [51887342, 51887555], [51889178, 51889799], [51890660, 51890838], [51892565, 51892705]]
Promoter
Chrom Start End Description
chr10 51827705 51827720 CAGE_peak_1_at_FAM21A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I049761 49761800 49762601 2.01 [{'connected_gene': 'OGDHL', 'score': 572.09}, {'connected_gene': 'LINC00843', 'score': 17.65}, {'connected_gene': 'AGAP6', 'score': 13.39}, {'connected_gene': 'ERCC6', 'score': 11.21}, {'connected_gene': 'WASHC2A', 'score': 10.97}, {'connected_gene': 'RNA5SP317', 'score': 10.66}, {'connected_gene': 'GC10M049685', 'score': 0.22}]
chr10 GH10I050260 50260375 50261868 1 [{'connected_gene': 'WASHC2A', 'score': 4.12}, {'connected_gene': 'DYNC1I2P1', 'score': 0.77}, {'connected_gene': 'ASAH2', 'score': 0.44}]
chr10 GH10I050586 50586082 50587295 1.33 [{'connected_gene': 'WASHC2A', 'score': 22.54}, {'connected_gene': 'RNA5SP317', 'score': 20.17}, {'connected_gene': 'LINC00843', 'score': 17.6}, {'connected_gene': 'AGAP6', 'score': 13.34}, {'connected_gene': 'BEND3P1', 'score': 7.99}, {'connected_gene': 'SGMS1', 'score': 5.55}, {'connected_gene': 'GC10M050591', 'score': 0.77}, {'connected_gene': 'GC10P050546', 'score': 0.26}]
chr10 GH10I049254 49253516 49253665 0.38 [{'connected_gene': 'WASHC2A', 'score': 12.54}, {'connected_gene': 'LINC00843', 'score': 10.26}, {'connected_gene': 'GC10P049274', 'score': 0.34}, {'connected_gene': 'C10orf128', 'score': 0.2}]
chr10 GH10I050067 50067200 50068862 2.05 [{'connected_gene': 'WASHC2A', 'score': 635.82}, {'connected_gene': 'FAM21EP', 'score': 550.77}, {'connected_gene': 'LINC00843', 'score': 70.39}, {'connected_gene': 'ERCC6', 'score': 59.46}, {'connected_gene': 'AGAP6', 'score': 48.98}, {'connected_gene': 'PARG', 'score': 32.09}, {'connected_gene': 'RNA5SP317', 'score': 28.49}, {'connected_gene': 'SGMS1-AS1', 'score': 12.1}, {'connected_gene': 'SGMS1', 'score': 10.35}, {'connected_gene': 'BEND3P1', 'score': 10.33}, {'connected_gene': 'VSTM4', 'score': 9.88}, {'connected_gene': 'PIR36054', 'score': 0.39}, {'connected_gene': 'GC10M050082', 'score': 0.39}]
chr10 GH10I050051 50051963 50052999 0.8 [{'connected_gene': 'WASHC2A', 'score': 43.46}, {'connected_gene': 'GC10P050048', 'score': 0.44}, {'connected_gene': 'PIR32938', 'score': 0.44}, {'connected_gene': 'FAM21EP', 'score': 0.37}]
chr10 GH10I050324 50324470 50329979 1.58 [{'connected_gene': 'SGMS1', 'score': 5.18}, {'connected_gene': 'WASHC2A', 'score': 4.9}, {'connected_gene': 'ENSG00000279863', 'score': 0.44}, {'connected_gene': 'DYNC1I2P1', 'score': 0.21}]
chr10 GH10I050618 50618201 50626570 2.77 [{'connected_gene': 'SGMS1', 'score': 550.77}, {'connected_gene': 'GC10P050623', 'score': 550.77}, {'connected_gene': 'GC10P050620', 'score': 550.77}, {'connected_gene': 'LINC00843', 'score': 40.67}, {'connected_gene': 'AGAP6', 'score': 31.32}, {'connected_gene': 'BEND3P1', 'score': 24.21}, {'connected_gene': 'WASHC2A', 'score': 21.8}, {'connected_gene': 'RNA5SP317', 'score': 18.64}, {'connected_gene': 'SGMS1-AS1', 'score': 15.56}, {'connected_gene': 'RNU7-107P', 'score': 12.28}, {'connected_gene': 'PARG', 'score': 10.98}]
chr10 GH10I049537 49537774 49540270 2.04 [{'connected_gene': 'ERCC6', 'score': 557.13}, {'connected_gene': 'PGBD3', 'score': 550.77}, {'connected_gene': 'LINC00843', 'score': 14.85}, {'connected_gene': 'WASHC2A', 'score': 12.62}, {'connected_gene': 'AGAP6', 'score': 10.56}, {'connected_gene': 'RNA5SP317', 'score': 9.75}, {'connected_gene': 'ENSG00000235939', 'score': 6.62}, {'connected_gene': 'PIR54050', 'score': 0.37}]
chr10 GH10I049186 49186601 49191409 2.08 [{'connected_gene': 'C10orf128', 'score': 562.74}, {'connected_gene': 'LINC00843', 'score': 17.6}, {'connected_gene': 'AGAP6', 'score': 13.34}, {'connected_gene': 'ERCC6', 'score': 11.19}, {'connected_gene': 'WASHC2A', 'score': 10.94}, {'connected_gene': 'RNA5SP317', 'score': 10.61}, {'connected_gene': 'GC10P049274', 'score': 0.17}]
chr10 GH10I049296 49296009 49302055 2.14 [{'connected_gene': 'C10orf71', 'score': 554.8}, {'connected_gene': 'C10orf71-AS1', 'score': 550.77}, {'connected_gene': 'LINC00843', 'score': 30.53}, {'connected_gene': 'AGAP6', 'score': 22.11}, {'connected_gene': 'WASHC2A', 'score': 21.79}, {'connected_gene': 'RNA5SP317', 'score': 18.64}, {'connected_gene': 'DRGX', 'score': 11.78}, {'connected_gene': 'ERCC6', 'score': 11.2}, {'connected_gene': 'GC10M049333', 'score': 0.2}]
chr10 GH10I050592 50592695 50594545 1.12 [{'connected_gene': 'LINC00843', 'score': 17.6}, {'connected_gene': 'AGAP6', 'score': 13.34}, {'connected_gene': 'WASHC2A', 'score': 10.94}, {'connected_gene': 'RNA5SP317', 'score': 10.61}, {'connected_gene': 'BEND3P1', 'score': 7.82}, {'connected_gene': 'SGMS1', 'score': 5.6}, {'connected_gene': 'RNU7-107P', 'score': 0.77}, {'connected_gene': 'GC10P050620', 'score': 0.31}]
chr10 GH10I049257 49257193 49257365 0.97 [{'connected_gene': 'LINC00843', 'score': 17.6}, {'connected_gene': 'AGAP6', 'score': 13.34}, {'connected_gene': 'ERCC6', 'score': 11.2}, {'connected_gene': 'WASHC2A', 'score': 10.94}, {'connected_gene': 'RNA5SP317', 'score': 10.61}, {'connected_gene': 'C10orf128', 'score': 7.75}, {'connected_gene': 'GC10P049274', 'score': 0.37}]
chr10 GH10I049407 49407655 49407804 0.67 [{'connected_gene': 'LINC00843', 'score': 14.84}, {'connected_gene': 'WASHC2A', 'score': 12.62}, {'connected_gene': 'PGBD3', 'score': 11.17}, {'connected_gene': 'AGAP6', 'score': 10.54}, {'connected_gene': 'RNA5SP317', 'score': 9.74}, {'connected_gene': 'C10orf71-AS1', 'score': 6.58}, {'connected_gene': 'GC10P049396', 'score': 0.39}, {'connected_gene': 'ENSG00000235939', 'score': 0.39}]
chr10 GH10I049253 49253946 49255213 1.17 [{'connected_gene': 'LINC00843', 'score': 23.79}, {'connected_gene': 'WASHC2A', 'score': 23.2}, {'connected_gene': 'RNA5SP317', 'score': 14.12}, {'connected_gene': 'ERCC6', 'score': 10.17}, {'connected_gene': 'C10orf128', 'score': 6.24}, {'connected_gene': 'C10orf71-AS1', 'score': 4.6}, {'connected_gene': 'VSTM4', 'score': 4.56}, {'connected_gene': 'GC10P049274', 'score': 0.37}]
chr10 GH10I050247 50247469 50251614 0.83 [{'connected_gene': 'LINC00843', 'score': 14.26}, {'connected_gene': 'ERCC6', 'score': 11.13}, {'connected_gene': 'WASHC2A', 'score': 8.25}, {'connected_gene': 'ASAH2', 'score': 0.77}, {'connected_gene': 'SLC9A3P1', 'score': 0.15}]
chr10 GH10I049830 49830101 49833049 0.86 [{'connected_gene': 'GC10M049833', 'score': 550.77}, {'connected_gene': 'AGAP6', 'score': 46.21}, {'connected_gene': 'WASHC2A', 'score': 5.71}, {'connected_gene': 'GC10P049816', 'score': 0.37}, {'connected_gene': 'PARG', 'score': 0.12}]

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