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
ENST00000294383 [[55532031, 55534780], [55537486, 55537597], [55537989, 55538076], [55538458, 55538534], [55539500, 55539579], [55541129, 55541196], [55542907, 55542973], [55544210, 55544324], [55545210, 55545332], [55546994, 55547097], [55548944, 55549037], [55549444, 55549561], [55551614, 55551711], [55555299, 55555413], [55557695, 55557799], [55558493, 55558589], [55559609, 55559760], [55560927, 55561069], [55562170, 55562295], [55562624, 55562845], [55563270, 55563390], [55563615, 55563757], [55564148, 55564231], [55565443, 55565542], [55566511, 55566637], [55567256, 55567376], [55569548, 55569693], [55571818, 55571936], [55572911, 55573103], [55575857, 55575919], [55586268, 55586429], [55587108, 55587179], [55589119, 55589275], [55590141, 55590301], [55590992, 55591221], [55591335, 55591431], [55595149, 55595247], [55598217, 55598373], [55599742, 55599836], [55600000, 55600086], [55603187, 55603361], [55603478, 55603577], [55604280, 55604391], [55604616, 55604683], [55607288, 55607404], [55608414, 55608468], [55608651, 55608792], [55609799, 55609876], [55611670, 55611782], [55612601, 55612733], [55613321, 55613471], [55614135, 55614243], [55619542, 55619590], [55619791, 55619953], [55620043, 55620139], [55620343, 55620451], [55622620, 55622724], [55622928, 55623043], [55624550, 55624709], [55625283, 55625358], [55627871, 55627937], [55631557, 55631623], [55632240, 55632276], [55637228, 55637351], [55638049, 55638193], [55642048, 55642116], [55643639, 55643805], [55680462, 55680786]] [[55534717, 55534780], [55537486, 55537597], [55537989, 55538076], [55538458, 55538534], [55539500, 55539579], [55541129, 55541196], [55542907, 55542973], [55544210, 55544324], [55545210, 55545332], [55546994, 55547097], [55548944, 55549037], [55549444, 55549561], [55551614, 55551711], [55555299, 55555413], [55557695, 55557799], [55558493, 55558589], [55559609, 55559760], [55560927, 55561069], [55562170, 55562295], [55562624, 55562845], [55563270, 55563390], [55563615, 55563757], [55564148, 55564231], [55565443, 55565542], [55566511, 55566637], [55567256, 55567376], [55569548, 55569693], [55571818, 55571936], [55572911, 55573103], [55575857, 55575919], [55586268, 55586429], [55587108, 55587179], [55589119, 55589275], [55590141, 55590301], [55590992, 55591221], [55591335, 55591431], [55595149, 55595247], [55598217, 55598373], [55599742, 55599836], [55600000, 55600086], [55603187, 55603361], [55603478, 55603577], [55604280, 55604391], [55604616, 55604683], [55607288, 55607404], [55608414, 55608468], [55608651, 55608792], [55609799, 55609876], [55611670, 55611782], [55612601, 55612733], [55613321, 55613471], [55614135, 55614243], [55619542, 55619590], [55619791, 55619953], [55620043, 55620139], [55620343, 55620451], [55622620, 55622724], [55622928, 55623043], [55624550, 55624709], [55625283, 55625358], [55627871, 55627937], [55631557, 55631623], [55632240, 55632276], [55637228, 55637351], [55638049, 55638193], [55642048, 55642116], [55643639, 55643805], [55680462, 55680786]]
ENST00000407756 [[55532040, 55534780], [55537486, 55537597], [55537989, 55538076], [55538458, 55538534], [55539500, 55539579], [55541129, 55541196], [55542907, 55542973], [55544210, 55544324], [55545210, 55545332], [55546994, 55547097], [55548944, 55549037], [55549444, 55549561], [55551614, 55551711], [55555299, 55555413], [55557695, 55557799], [55558493, 55558589], [55559609, 55559760], [55560927, 55561069], [55562170, 55562295], [55562624, 55562845], [55563270, 55563390], [55563615, 55563757], [55564148, 55564231], [55565443, 55565542], [55566511, 55566637], [55567256, 55567376], [55569548, 55569693], [55571818, 55571936], [55572911, 55573103], [55575857, 55575919], [55586268, 55586429], [55587108, 55587179], [55589119, 55589275], [55590141, 55590301], [55590992, 55591221], [55591335, 55591431], [55595149, 55595247], [55598217, 55598373], [55599742, 55599836], [55600000, 55600086], [55603187, 55603361], [55603478, 55603577], [55604280, 55604391], [55604616, 55604683], [55607288, 55607404], [55608414, 55608468], [55608651, 55608792], [55609799, 55609876], [55611670, 55611782], [55612601, 55612733], [55613321, 55613471], [55614135, 55614243], [55619791, 55619953], [55620343, 55620451], [55622620, 55622724], [55622928, 55623043], [55624550, 55624709], [55625283, 55625358], [55627871, 55627937], [55631557, 55631623], [55632240, 55632276], [55637228, 55637351], [55638049, 55638193], [55642048, 55642116], [55680608, 55680762]] [[55534717, 55534780], [55537486, 55537597], [55537989, 55538076], [55538458, 55538534], [55539500, 55539579], [55541129, 55541196], [55542907, 55542973], [55544210, 55544324], [55545210, 55545332], [55546994, 55547097], [55548944, 55549037], [55549444, 55549561], [55551614, 55551711], [55555299, 55555413], [55557695, 55557799], [55558493, 55558589], [55559609, 55559760], [55560927, 55561069], [55562170, 55562295], [55562624, 55562845], [55563270, 55563390], [55563615, 55563757], [55564148, 55564231], [55565443, 55565542], [55566511, 55566637], [55567256, 55567376], [55569548, 55569693], [55571818, 55571936], [55572911, 55573103], [55575857, 55575919], [55586268, 55586429], [55587108, 55587179], [55589119, 55589275], [55590141, 55590301], [55590992, 55591221], [55591335, 55591431], [55595149, 55595247], [55598217, 55598373], [55599742, 55599836], [55600000, 55600086], [55603187, 55603361], [55603478, 55603577], [55604280, 55604391], [55604616, 55604683], [55607288, 55607404], [55608414, 55608468], [55608651, 55608792], [55609799, 55609876], [55611670, 55611782], [55612601, 55612733], [55613321, 55613471], [55614135, 55614243], [55619791, 55619953], [55620343, 55620451], [55622620, 55622724], [55622928, 55623043], [55624550, 55624709], [55625283, 55625358], [55627871, 55627937], [55631557, 55631623], [55632240, 55632276], [55637228, 55637351], [55638049, 55638193], [55642048, 55642116], [55680608, 55680762]]
ENST00000484447 [[55536945, 55537163], [55537486, 55537597], [55537989, 55538076], [55538458, 55538534], [55539500, 55539579], [55541129, 55541172]] None
ENST00000480962 [[55537485, 55537597], [55537989, 55538076], [55538458, 55538665]] None
ENST00000472566 [[55547059, 55547097], [55548944, 55549037], [55549444, 55549561], [55551614, 55552097]] None
ENST00000512504 [[55549515, 55549561], [55550065, 55550094], [55551614, 55552107]] None
ENST00000482197 [[55559225, 55559760], [55560927, 55560992]] None
NM_015306 [[55532031, 55534780], [55537486, 55537597], [55537989, 55538076], [55538458, 55538534], [55539500, 55539579], [55541129, 55541196], [55542907, 55542973], [55544210, 55544324], [55545210, 55545332], [55546994, 55547097], [55548944, 55549037], [55549444, 55549561], [55551614, 55551711], [55555299, 55555413], [55557695, 55557799], [55558493, 55558589], [55559609, 55559760], [55560927, 55561069], [55562170, 55562295], [55562624, 55562845], [55563270, 55563390], [55563615, 55563757], [55564148, 55564231], [55565443, 55565542], [55566511, 55566637], [55567256, 55567376], [55569548, 55569693], [55571818, 55571936], [55572911, 55573103], [55575857, 55575919], [55586268, 55586429], [55587108, 55587179], [55589119, 55589275], [55590141, 55590301], [55590992, 55591221], [55591335, 55591431], [55595149, 55595247], [55598217, 55598373], [55599742, 55599836], [55600000, 55600086], [55603187, 55603361], [55603478, 55603577], [55604280, 55604391], [55604616, 55604683], [55607288, 55607404], [55608414, 55608468], [55608651, 55608792], [55609799, 55609876], [55611670, 55611782], [55612601, 55612733], [55613321, 55613471], [55614135, 55614243], [55619542, 55619590], [55619791, 55619953], [55620043, 55620139], [55620343, 55620451], [55622620, 55622724], [55622928, 55623043], [55624550, 55624709], [55625283, 55625358], [55627871, 55627937], [55631557, 55631623], [55632240, 55632276], [55637228, 55637351], [55638049, 55638193], [55642048, 55642116], [55643639, 55643805], [55680462, 55681039]] [[55534717, 55534780], [55537486, 55537597], [55537989, 55538076], [55538458, 55538534], [55539500, 55539579], [55541129, 55541196], [55542907, 55542973], [55544210, 55544324], [55545210, 55545332], [55546994, 55547097], [55548944, 55549037], [55549444, 55549561], [55551614, 55551711], [55555299, 55555413], [55557695, 55557799], [55558493, 55558589], [55559609, 55559760], [55560927, 55561069], [55562170, 55562295], [55562624, 55562845], [55563270, 55563390], [55563615, 55563757], [55564148, 55564231], [55565443, 55565542], [55566511, 55566637], [55567256, 55567376], [55569548, 55569693], [55571818, 55571936], [55572911, 55573103], [55575857, 55575919], [55586268, 55586429], [55587108, 55587179], [55589119, 55589275], [55590141, 55590301], [55590992, 55591221], [55591335, 55591431], [55595149, 55595247], [55598217, 55598373], [55599742, 55599836], [55600000, 55600086], [55603187, 55603361], [55603478, 55603577], [55604280, 55604391], [55604616, 55604683], [55607288, 55607404], [55608414, 55608468], [55608651, 55608792], [55609799, 55609876], [55611670, 55611782], [55612601, 55612733], [55613321, 55613471], [55614135, 55614243], [55619542, 55619590], [55619791, 55619953], [55620043, 55620139], [55620343, 55620451], [55622620, 55622724], [55622928, 55623043], [55624550, 55624709], [55625283, 55625358], [55627871, 55627937], [55631557, 55631623], [55632240, 55632276], [55637228, 55637351], [55638049, 55638193], [55642048, 55642116], [55643639, 55643805], [55680462, 55680786]]
Promoter
Chrom Start End Description
chr1 55680953 55681050 CAGE_peak_1_at_USP24_5end
chr1 55681116 55681139 CAGE_peak_2_at_USP24_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I055179 55179109 55180206 1.04 [{'connected_gene': 'TTC4', 'score': 9.94}, {'connected_gene': 'USP24', 'score': 0.28}, {'connected_gene': 'GC01P055101', 'score': 0.18}]
chr1 GH01I055054 55054349 55056193 0.43 [{'connected_gene': 'PCSK9', 'score': 6.56}, {'connected_gene': 'USP24', 'score': 6.0}, {'connected_gene': 'GC01P055065', 'score': 0.39}]
chr1 GH01I055192 55192228 55192377 0.72 [{'connected_gene': 'USP24', 'score': 12.39}, {'connected_gene': 'GYG1P3', 'score': 12.36}, {'connected_gene': 'MIR4422HG', 'score': 12.36}, {'connected_gene': 'GC01P055101', 'score': 0.16}]
chr1 GH01I055061 55060937 55063071 0.49 [{'connected_gene': 'USP24', 'score': 12.03}, {'connected_gene': 'GC01P055065', 'score': 0.77}, {'connected_gene': 'PCSK9', 'score': 0.34}]
chr1 GH01I055193 55193212 55194023 0.4 [{'connected_gene': 'USP24', 'score': 12.39}, {'connected_gene': 'MIR4422HG', 'score': 12.39}, {'connected_gene': 'GYG1P3', 'score': 12.36}, {'connected_gene': 'GC01P055101', 'score': 0.16}]
chr1 GH01I055210 55210517 55218630 2.71 [{'connected_gene': 'USP24', 'score': 564.75}, {'connected_gene': 'LOC100507634', 'score': 550.77}, {'connected_gene': 'RPSAP20', 'score': 9.73}, {'connected_gene': 'MIR4422HG', 'score': 0.77}, {'connected_gene': 'GC01P055101', 'score': 0.14}]
chr1 GH01I055287 55287908 55288682 1.17 [{'connected_gene': 'USP24', 'score': 3.6}, {'connected_gene': 'GC01P055238', 'score': 0.25}, {'connected_gene': 'GC01M055291', 'score': 0.22}]
chr1 GH01I055257 55257830 55261243 0.6 [{'connected_gene': 'USP24', 'score': 5.92}, {'connected_gene': 'GC01P055238', 'score': 0.34}, {'connected_gene': 'GC01M055291', 'score': 0.18}]
chr1 GH01I055190 55190190 55190869 0.52 [{'connected_gene': 'USP24', 'score': 0.34}, {'connected_gene': 'GC01P055101', 'score': 0.17}]
chr1 GH01I055128 55128983 55130325 0.63 [{'connected_gene': 'USP24', 'score': 10.45}, {'connected_gene': 'GC01P055101', 'score': 0.31}]
chr1 GH01I055155 55155167 55156957 0.56 [{'connected_gene': 'USP24', 'score': 11.74}, {'connected_gene': 'GC01P055101', 'score': 0.23}]
chr1 GH01I055191 55191823 55191905 0.31 [{'connected_gene': 'USP24', 'score': 0.34}, {'connected_gene': 'GC01P055101', 'score': 0.16}]
chr1 GH01I055209 55209201 55209400 0.92 [{'connected_gene': 'USP24', 'score': 0.44}, {'connected_gene': 'GC01P055101', 'score': 0.14}]
chr1 GH01I055150 55150754 55152462 0.83 [{'connected_gene': 'USP24', 'score': 8.8}, {'connected_gene': 'GC01P055101', 'score': 0.25}]
chr1 GH01I055135 55135721 55137655 0.2 [{'connected_gene': 'USP24', 'score': 10.47}, {'connected_gene': 'GC01P055101', 'score': 0.29}]
chr1 GH01I055197 55196201 55196400 0.58 [{'connected_gene': 'USP24', 'score': 0.37}, {'connected_gene': 'GC01P055101', 'score': 0.16}]
chr1 GH01I055127 55127735 55128635 0.86 [{'connected_gene': 'USP24', 'score': 11.51}, {'connected_gene': 'GC01P055101', 'score': 0.31}]
chr1 GH01I055171 55171294 55174894 0.38 [{'connected_gene': 'USP24', 'score': 11.25}, {'connected_gene': 'GC01P055101', 'score': 0.19}]
chr1 GH01I055196 55196600 55197760 1.24 [{'connected_gene': 'USP24', 'score': 0.37}, {'connected_gene': 'GC01P055101', 'score': 0.15}]
chr1 GH01I055194 55191939 55192040 0.46 [{'connected_gene': 'USP24', 'score': 0.34}, {'connected_gene': 'GC01P055101', 'score': 0.16}]
chr1 GH01I055204 55204813 55205400 1.2 [{'connected_gene': 'USP24', 'score': 10.22}, {'connected_gene': 'GC01P055101', 'score': 0.15}]
chr1 GH01I055163 55163865 55165803 0.49 [{'connected_gene': 'USP24', 'score': 11.37}, {'connected_gene': 'GC01P055101', 'score': 0.21}]
chr1 GH01I055081 55081270 55081875 0.2 [{'connected_gene': 'TMEM61', 'score': 9.87}, {'connected_gene': 'GC01M055068', 'score': 0.39}, {'connected_gene': 'GC01M055067', 'score': 0.39}, {'connected_gene': 'GC01P055101', 'score': 0.34}, {'connected_gene': 'USP24', 'score': 0.12}]
chr1 GH01I055071 55071608 55071717 0.65 [{'connected_gene': 'TMEM61', 'score': 9.98}, {'connected_gene': 'GC01M055068', 'score': 0.44}, {'connected_gene': 'GC01M055067', 'score': 0.44}, {'connected_gene': 'GC01P055101', 'score': 0.29}, {'connected_gene': 'USP24', 'score': 0.11}]
chr1 GH01I054948 54948289 54948554 0.51 [{'connected_gene': 'TMEM61', 'score': 12.54}, {'connected_gene': 'ENSG00000233271', 'score': 12.48}, {'connected_gene': 'ENSG00000242396', 'score': 11.04}, {'connected_gene': 'DHCR24', 'score': 11.04}, {'connected_gene': 'ENSG00000233203', 'score': 11.04}, {'connected_gene': 'TTC22', 'score': 10.08}, {'connected_gene': 'ENSG00000237453', 'score': 10.07}, {'connected_gene': 'USP24', 'score': 1.25}, {'connected_gene': 'PIR41856', 'score': 0.77}, {'connected_gene': 'GC01M054958', 'score': 0.44}]
chr1 GH01I055195 55195001 55195827 0.69 [{'connected_gene': 'MIR4422HG', 'score': 12.39}, {'connected_gene': 'GYG1P3', 'score': 12.36}, {'connected_gene': 'USP24', 'score': 0.37}, {'connected_gene': 'GC01P055101', 'score': 0.16}]
chr1 GH01I055064 55064108 55064600 0.69 [{'connected_gene': 'GC01P055065', 'score': 550.77}, {'connected_gene': 'USP24', 'score': 13.27}, {'connected_gene': 'PCSK9', 'score': 0.34}]
chr1 GH01I055140 55140208 55141655 1.02 [{'connected_gene': 'GC01P055101', 'score': 0.28}, {'connected_gene': 'USP24', 'score': 0.19}]
chr1 GH01I054945 54945002 54946175 1.16 [{'connected_gene': 'PIR41856', 'score': 550.77}, {'connected_gene': 'TMEM61', 'score': 23.52}, {'connected_gene': 'ENSG00000233271', 'score': 12.46}, {'connected_gene': 'ENSG00000242396', 'score': 10.69}, {'connected_gene': 'DHCR24', 'score': 10.69}, {'connected_gene': 'ENSG00000233203', 'score': 10.69}, {'connected_gene': 'TTC22', 'score': 10.08}, {'connected_gene': 'ENSG00000237453', 'score': 10.07}, {'connected_gene': 'USP24', 'score': 1.61}, {'connected_gene': 'GC01M054936', 'score': 0.44}]