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
ENST00000409699 [[66187416, 66190432], [66191065, 66191272], [66198422, 66198479], [66206074, 66206311], [66207807, 66207936], [66208485, 66208614], [66209165, 66209294], [66210303, 66210432], [66214675, 66214810], [66215160, 66215307], [66220762, 66220865], [66222057, 66222221], [66223160, 66223281], [66249884, 66250059], [66257245, 66257458], [66262890, 66263027], [66273115, 66273236], [66274579, 66274826], [66386739, 66386832], [66411423, 66411524], [66416236, 66416338], [66420643, 66420771], [66545942, 66546085]] [[66190271, 66190432], [66191065, 66191272], [66198422, 66198479], [66206074, 66206311], [66207807, 66207936], [66208485, 66208614], [66209165, 66209294], [66210303, 66210432], [66214675, 66214810], [66215160, 66215307], [66220762, 66220865], [66222057, 66222221], [66223160, 66223281], [66249884, 66250059], [66257245, 66257458], [66262890, 66263027], [66273115, 66273236], [66274579, 66274826], [66386739, 66386832], [66411423, 66411524], [66416236, 66416338], [66420643, 66420741]]
ENST00000360698 [[66187633, 66190432], [66191065, 66191272], [66198422, 66198479], [66206074, 66206311], [66207807, 66207936], [66208485, 66208614], [66208935, 66209294], [66210303, 66210432], [66214675, 66214810], [66215160, 66215307], [66220762, 66220865], [66222057, 66222221], [66223160, 66223281], [66249884, 66250059], [66257245, 66257458], [66262890, 66263027], [66273115, 66273236], [66274579, 66274826], [66386739, 66386832], [66411423, 66411524], [66416236, 66416338], [66420643, 66420749], [66545942, 66546075]] [[66207882, 66207936], [66208485, 66208614], [66208935, 66209294], [66210303, 66210432], [66214675, 66214810], [66215160, 66215307], [66220762, 66220865], [66222057, 66222221], [66223160, 66223281], [66249884, 66250059], [66257245, 66257458], [66262890, 66263027], [66273115, 66273236], [66274579, 66274826], [66386739, 66386832], [66411423, 66411524], [66416236, 66416338], [66420643, 66420741]]
ENST00000422354 [[66187633, 66190432], [66191065, 66191272], [66198422, 66198479], [66206074, 66206311], [66207807, 66207936], [66208485, 66208614], [66209165, 66209294], [66210303, 66210432], [66214675, 66214810], [66215160, 66215307], [66220762, 66220865], [66222057, 66222221], [66223160, 66223281], [66249884, 66250059], [66257245, 66257458], [66262890, 66263027], [66273115, 66273236], [66274579, 66274826], [66386739, 66386832], [66411423, 66411524], [66416236, 66416338], [66420643, 66420749], [66545942, 66546075]] [[66190271, 66190432], [66191065, 66191272], [66198422, 66198479], [66206074, 66206311], [66207807, 66207936], [66208485, 66208614], [66209165, 66209294], [66210303, 66210432], [66214675, 66214810], [66215160, 66215307], [66220762, 66220865], [66222057, 66222221], [66223160, 66223281], [66249884, 66250059], [66257245, 66257458], [66262890, 66263027], [66273115, 66273236], [66274579, 66274826], [66386739, 66386832], [66411423, 66411524], [66416236, 66416338], [66420643, 66420741]]
ENST00000395625 [[66187633, 66190432], [66191065, 66191272], [66198422, 66198479], [66206074, 66206311], [66207807, 66207936], [66208485, 66208614], [66209165, 66209294], [66210303, 66210432], [66214675, 66214810], [66215160, 66215307], [66220762, 66220865], [66222057, 66222221], [66223160, 66223281], [66249884, 66250059], [66257245, 66257458], [66262890, 66263027], [66273115, 66273236], [66274579, 66274826], [66386739, 66386832], [66416236, 66416338], [66420643, 66420749], [66545942, 66546075]] [[66190271, 66190432], [66191065, 66191272], [66198422, 66198479], [66206074, 66206311], [66207807, 66207936], [66208485, 66208614], [66209165, 66209294], [66210303, 66210432], [66214675, 66214810], [66215160, 66215307], [66220762, 66220865], [66222057, 66222221], [66223160, 66223281], [66249884, 66250059], [66257245, 66257458], [66262890, 66263027], [66273115, 66273236], [66274579, 66274826], [66386739, 66386832], [66416236, 66416312]]
ENST00000288745 [[66187633, 66190432], [66191065, 66191272], [66198422, 66198479], [66206074, 66206311], [66207807, 66207936], [66208485, 66208614], [66209165, 66209294], [66210303, 66210432], [66214675, 66214810], [66215160, 66215307], [66220762, 66220865], [66222057, 66222221], [66223160, 66223281], [66249884, 66250059], [66257245, 66257458], [66262890, 66263027], [66273115, 66273236], [66274579, 66274826], [66386739, 66386832], [66416236, 66416338], [66545942, 66546075]] [[66190271, 66190432], [66191065, 66191272], [66198422, 66198479], [66206074, 66206311], [66207807, 66207936], [66208485, 66208614], [66209165, 66209294], [66210303, 66210432], [66214675, 66214810], [66215160, 66215307], [66220762, 66220865], [66222057, 66222221], [66223160, 66223281], [66249884, 66250059], [66257245, 66257458], [66262890, 66263027], [66273115, 66273236], [66274579, 66274826], [66386739, 66386832], [66416236, 66416312]]
ENST00000478721 [[66191070, 66191272], [66194833, 66194875], [66198422, 66198479], [66201371, 66201459], [66202077, 66202144], [66202253, 66202324], [66206074, 66206456]] None
ENST00000395614 [[66201412, 66201459], [66202077, 66202144], [66202253, 66202324], [66206074, 66206311], [66207807, 66207936], [66208485, 66208614], [66209165, 66209294], [66210303, 66210432], [66214675, 66214810], [66215160, 66215307], [66220762, 66220865], [66222057, 66222221], [66223160, 66223281], [66249884, 66250059], [66257245, 66257458], [66262890, 66263027], [66273115, 66273236], [66274579, 66274826], [66386739, 66386832], [66411423, 66411524], [66416236, 66416338], [66420643, 66420749], [66545942, 66545995]] [[66201412, 66201459], [66202077, 66202144], [66202253, 66202324], [66206074, 66206303]]
ENST00000490495 [[66194109, 66194875], [66198422, 66198479], [66198962, 66199008], [66201371, 66201473], [66202077, 66202144], [66206074, 66206311], [66207807, 66207936], [66208485, 66208614], [66208935, 66209294], [66210303, 66210432], [66214675, 66214810], [66215160, 66215307], [66220762, 66220865], [66222057, 66222221], [66223160, 66223281], [66249884, 66250059], [66257245, 66257458], [66262890, 66263027]] [[66207882, 66207936], [66208485, 66208614], [66208935, 66209294], [66210303, 66210432], [66214675, 66214810], [66215160, 66215307], [66220762, 66220865], [66222057, 66222221], [66223160, 66223281], [66249884, 66250059], [66257245, 66257458], [66262890, 66262901]]
ENST00000489275 [[66194533, 66194875], [66198422, 66198479], [66198962, 66199008], [66201371, 66201473], [66202077, 66202144], [66204419, 66204538]] None
ENST00000562154 [[66198074, 66198174], [66198422, 66198479], [66201371, 66201459], [66202077, 66202109]] None
ENST00000493192 [[66198121, 66198212], [66198422, 66198479], [66198962, 66199008], [66201371, 66201473], [66202077, 66202144], [66204419, 66204538], [66204774, 66204816]] None
ENST00000478590 [[66205863, 66206311], [66207807, 66207936]] None
ENST00000564573 [[66214029, 66214445], [66214675, 66214713]] None
ENST00000455812 [[66222058, 66222221], [66223160, 66223281], [66249884, 66250059], [66257245, 66257458], [66262890, 66263027], [66263503, 66263558]] [[66222058, 66222221], [66223160, 66223281], [66249884, 66250059], [66257245, 66257458], [66262890, 66262901]]
ENST00000484618 [[66257289, 66257458], [66262890, 66263027], [66263541, 66263568]] None
ENST00000474398 [[66257384, 66257458], [66262890, 66263576]] None
ENST00000469917 [[66257512, 66257721], [66259409, 66259474], [66262890, 66263027], [66263541, 66263602]] None
NM_032445 [[66187633, 66190432], [66191065, 66191272], [66198422, 66198479], [66206074, 66206311], [66207807, 66207936], [66208485, 66208614], [66209165, 66209294], [66210303, 66210432], [66214675, 66214810], [66215160, 66215307], [66220762, 66220865], [66222057, 66222221], [66223160, 66223281], [66249884, 66250059], [66257245, 66257458], [66262890, 66263027], [66273115, 66273236], [66274579, 66274826], [66386739, 66386832], [66411423, 66411524], [66416236, 66416338], [66420643, 66420749], [66545942, 66546075]] [[66190271, 66190432], [66191065, 66191272], [66198422, 66198479], [66206074, 66206311], [66207807, 66207936], [66208485, 66208614], [66209165, 66209294], [66210303, 66210432], [66214675, 66214810], [66215160, 66215307], [66220762, 66220865], [66222057, 66222221], [66223160, 66223281], [66249884, 66250059], [66257245, 66257458], [66262890, 66263027], [66273115, 66273236], [66274579, 66274826], [66386739, 66386832], [66411423, 66411524], [66416236, 66416338], [66420643, 66420741]]
Promoter
Chrom Start End Description
chr15 66420804 66420837 CAGE_peak_4_at_MEGF11_5end
chr15 66546082 66546094 CAGE_peak_1_at_MEGF11_5end
chr15 66546108 66546115 CAGE_peak_3_at_MEGF11_5end
chr15 66546121 66546132 CAGE_peak_2_at_MEGF11_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I065980 65980943 65981112 0.95 [{'connected_gene': 'IGDCC3', 'score': 11.67}, {'connected_gene': 'SNAPC5', 'score': 10.0}, {'connected_gene': 'LOC105370867', 'score': 0.28}, {'connected_gene': 'GC15P069445', 'score': 0.16}, {'connected_gene': 'MEGF11', 'score': 0.06}]
chr15 GH15I066141 66141323 66141493 0.5 [{'connected_gene': 'SLC24A1', 'score': 14.93}, {'connected_gene': 'INTS14', 'score': 13.69}, {'connected_gene': 'ENSG00000260773', 'score': 11.79}, {'connected_gene': 'MEGF11', 'score': 10.73}, {'connected_gene': 'DENND4A', 'score': 2.51}, {'connected_gene': 'MAP2K1', 'score': 2.43}, {'connected_gene': 'GC15P068669', 'score': 0.77}, {'connected_gene': 'GC15M066111', 'score': 0.39}]
chr15 GH15I066150 66150234 66153436 0.57 [{'connected_gene': 'MEGF11', 'score': 11.06}, {'connected_gene': 'INTS14', 'score': 10.67}, {'connected_gene': 'DIS3L', 'score': 10.57}, {'connected_gene': 'SLC24A1', 'score': 9.83}, {'connected_gene': 'GC15P068669', 'score': 0.44}]
chr15 GH15I065963 65963179 65965213 0.56 [{'connected_gene': 'MEGF11', 'score': 10.57}, {'connected_gene': 'MAP2K1', 'score': 9.34}, {'connected_gene': 'HACD3', 'score': 4.91}, {'connected_gene': 'HNRNPA1P44', 'score': 4.5}, {'connected_gene': 'LOC105370867', 'score': 0.22}, {'connected_gene': 'GC15P069445', 'score': 0.19}]
chr15 GH15I066253 66253400 66254001 1.81 [{'connected_gene': 'MEGF11', 'score': 550.77}, {'connected_gene': 'TIPIN', 'score': 20.84}, {'connected_gene': 'LOC105370868', 'score': 7.82}, {'connected_gene': 'GC15P068669', 'score': 0.14}]
chr15 GH15I065955 65955810 65959896 0.31 [{'connected_gene': 'MEGF11', 'score': 15.5}, {'connected_gene': 'HACD3', 'score': 4.91}, {'connected_gene': 'LOC105370867', 'score': 0.21}, {'connected_gene': 'GC15P069445', 'score': 0.2}]
chr15 GH15I066154 66153828 66153887 1.06 [{'connected_gene': 'MEGF11', 'score': 561.07}, {'connected_gene': 'DIS3L', 'score': 10.58}, {'connected_gene': 'GC15P068669', 'score': 0.44}]
chr15 GH15I065954 65954060 65955126 0.89 [{'connected_gene': 'MEGF11', 'score': 10.44}, {'connected_gene': 'GC15P069445', 'score': 0.21}, {'connected_gene': 'LOC105370867', 'score': 0.2}]
chr15 GH15I065952 65952563 65952712 0.77 [{'connected_gene': 'MEGF11', 'score': 10.44}, {'connected_gene': 'GC15P069445', 'score': 0.21}, {'connected_gene': 'LOC105370867', 'score': 0.2}]
chr15 GH15I066196 66196341 66197422 0.31 [{'connected_gene': 'MEGF11', 'score': 11.32}, {'connected_gene': 'SNAPC5', 'score': 4.82}, {'connected_gene': 'GC15P068669', 'score': 0.23}]
chr15 GH15I066172 66172392 66172529 0.64 [{'connected_gene': 'MEGF11', 'score': 11.54}, {'connected_gene': 'SNAPC5', 'score': 4.15}, {'connected_gene': 'GC15P068669', 'score': 0.31}]
chr15 GH15I066137 66137785 66140281 0.57 [{'connected_gene': 'MEGF11', 'score': 20.93}, {'connected_gene': 'GC15P068669', 'score': 0.44}, {'connected_gene': 'GC15M066111', 'score': 0.39}]
chr15 GH15I066023 66023254 66024416 0.49 [{'connected_gene': 'IGDCC4', 'score': 8.1}, {'connected_gene': 'LOC105370867', 'score': 0.77}, {'connected_gene': 'GC15M066027', 'score': 0.44}, {'connected_gene': 'MEGF11', 'score': 0.07}]
chr15 GH15I066042 66042344 66043888 0.71 [{'connected_gene': 'IGDCC4', 'score': 6.79}, {'connected_gene': 'MIR4311', 'score': 0.77}, {'connected_gene': 'GC15M066111', 'score': 0.18}, {'connected_gene': 'MEGF11', 'score': 0.08}]
chr15 GH15I066288 66288923 66289072 0.38 [{'connected_gene': 'TIPIN', 'score': 17.13}, {'connected_gene': 'DIS3L', 'score': 0.77}, {'connected_gene': 'LOC105370868', 'score': 0.77}, {'connected_gene': 'MEGF11', 'score': 0.28}]
chr15 GH15I066269 66269201 66270164 1.13 [{'connected_gene': 'DIS3L', 'score': 11.12}, {'connected_gene': 'MEGF11', 'score': 0.37}]
chr15 GH15I066153 66153951 66154320 1.35 [{'connected_gene': 'DIS3L', 'score': 12.16}, {'connected_gene': 'MEGF11', 'score': 11.07}, {'connected_gene': 'GC15P068669', 'score': 0.44}]
chr15 GH15I066261 66261243 66261392 0.2 [{'connected_gene': 'DIS3L', 'score': 10.67}, {'connected_gene': 'TIPIN', 'score': 9.43}, {'connected_gene': 'MEGF11', 'score': 0.44}]
chr15 GH15I065915 65915111 65915890 0.52 [{'connected_gene': 'DIS3L', 'score': 9.86}, {'connected_gene': 'HACD3', 'score': 5.34}, {'connected_gene': 'GC15P069445', 'score': 0.34}, {'connected_gene': 'LOC105370867', 'score': 0.14}, {'connected_gene': 'MEGF11', 'score': 0.05}]
chr15 GH15I065916 65916506 65917597 1.06 [{'connected_gene': 'DIS3L', 'score': 9.86}, {'connected_gene': 'HACD3', 'score': 5.35}, {'connected_gene': 'GC15P069445', 'score': 0.31}, {'connected_gene': 'LOC105370867', 'score': 0.15}, {'connected_gene': 'MEGF11', 'score': 0.05}]
chr15 GH15I065905 65905943 65907207 0.64 [{'connected_gene': 'DIS3L', 'score': 9.82}, {'connected_gene': 'HACD3', 'score': 5.33}, {'connected_gene': 'HNRNPA1P44', 'score': 4.34}, {'connected_gene': 'GC15P069445', 'score': 0.37}, {'connected_gene': 'LOC105370867', 'score': 0.14}, {'connected_gene': 'MEGF11', 'score': 0.05}]
chr15 GH15I066236 66236543 66237888 0.31 [{'connected_gene': 'DIS3L', 'score': 10.08}, {'connected_gene': 'SNAPC5', 'score': 6.48}, {'connected_gene': 'TIPIN', 'score': 5.11}, {'connected_gene': 'MEGF11', 'score': 0.37}, {'connected_gene': 'GC15P068669', 'score': 0.16}]
chr15 GH15I065939 65939652 65940635 0.59 [{'connected_gene': 'DIS3L', 'score': 9.93}, {'connected_gene': 'RNU6-19P', 'score': 8.79}, {'connected_gene': 'GC15P069445', 'score': 0.25}, {'connected_gene': 'LOC105370867', 'score': 0.18}, {'connected_gene': 'MEGF11', 'score': 0.06}]
chr15 GH15I065940 65940663 65940812 0.52 [{'connected_gene': 'DIS3L', 'score': 9.93}, {'connected_gene': 'RNU6-19P', 'score': 8.79}, {'connected_gene': 'GC15P069445', 'score': 0.25}, {'connected_gene': 'LOC105370867', 'score': 0.18}, {'connected_gene': 'MEGF11', 'score': 0.06}]
chr15 GH15I065921 65921101 65922127 0.75 [{'connected_gene': 'DIS3L', 'score': 9.86}, {'connected_gene': 'RNU6-19P', 'score': 9.5}, {'connected_gene': 'HNRNPA1P44', 'score': 4.64}, {'connected_gene': 'GC15P069445', 'score': 0.29}, {'connected_gene': 'LOC105370867', 'score': 0.15}, {'connected_gene': 'MEGF11', 'score': 0.06}]
chr15 GH15I065977 65977183 65980613 0.56 [{'connected_gene': 'LOC105370867', 'score': 0.26}, {'connected_gene': 'GC15P069445', 'score': 0.17}, {'connected_gene': 'MEGF11', 'score': 0.06}]
chr15 GH15I066002 66002976 66003010 0.22 [{'connected_gene': 'LOC105370867', 'score': 0.37}, {'connected_gene': 'GC15P069445', 'score': 0.14}, {'connected_gene': 'MEGF11', 'score': 0.07}]
chr15 GH15I066239 66239533 66240949 0.49 [{'connected_gene': 'SNAPC5', 'score': 26.84}, {'connected_gene': 'TIPIN', 'score': 20.38}, {'connected_gene': 'DIS3L', 'score': 10.09}, {'connected_gene': 'LOC105370868', 'score': 8.73}, {'connected_gene': 'MEGF11', 'score': 0.39}, {'connected_gene': 'GC15P068669', 'score': 0.16}]
chr15 GH15I065971 65971203 65971352 1.08 [{'connected_gene': 'DENND4A', 'score': 4.64}, {'connected_gene': 'LOC105370867', 'score': 0.25}, {'connected_gene': 'GC15P069445', 'score': 0.18}, {'connected_gene': 'MEGF11', 'score': 0.06}]
chr15 GH15I065901 65901572 65904716 1.05 [{'connected_gene': 'RNU6-19P', 'score': 9.27}, {'connected_gene': 'HACD3', 'score': 5.33}, {'connected_gene': 'MEGF11', 'score': 4.67}, {'connected_gene': 'GC15P069445', 'score': 0.39}, {'connected_gene': 'LOC105370867', 'score': 0.13}]
chr15 GH15I065981 65981801 65982711 1.26 [{'connected_gene': 'PDCD7', 'score': 13.82}, {'connected_gene': 'ENSG00000260773', 'score': 10.24}, {'connected_gene': 'DPP8', 'score': 9.86}, {'connected_gene': 'LOC105370867', 'score': 0.28}, {'connected_gene': 'GC15P069445', 'score': 0.16}, {'connected_gene': 'MEGF11', 'score': 0.06}]
chr15 GH15I066080 66080255 66081758 0.63 [{'connected_gene': 'MIR4311', 'score': 0.26}, {'connected_gene': 'GC15M066111', 'score': 0.25}, {'connected_gene': 'MEGF11', 'score': 0.09}]
chr15 GH15I066067 66067743 66067932 0.54 [{'connected_gene': 'MIR4311', 'score': 0.31}, {'connected_gene': 'GC15M066111', 'score': 0.22}, {'connected_gene': 'MEGF11', 'score': 0.09}]
chr15 GH15I066038 66038922 66039561 0.6 [{'connected_gene': 'MIR4311', 'score': 550.77}, {'connected_gene': 'IGDCC4', 'score': 6.46}, {'connected_gene': 'GC15M066027', 'score': 0.44}, {'connected_gene': 'MEGF11', 'score': 0.08}]
chr15 GH15I066008 66008576 66009769 0.88 [{'connected_gene': 'HNRNPA1P44', 'score': 4.59}, {'connected_gene': 'LOC105370867', 'score': 0.39}, {'connected_gene': 'GC15P069445', 'score': 0.13}, {'connected_gene': 'MEGF11', 'score': 0.07}]
chr15 GH15I065841 65841001 65842000 0.99 [{'connected_gene': 'ENSG00000283249', 'score': 550.77}, {'connected_gene': 'MEGF11', 'score': 5.0}, {'connected_gene': 'HACD3', 'score': 4.32}, {'connected_gene': 'HNRNPA1P44', 'score': 0.34}, {'connected_gene': 'LOC105370866', 'score': 0.25}, {'connected_gene': 'RAB11A', 'score': 0.13}]
chr15 GH15I066178 66178403 66178991 0.43 [{'connected_gene': 'GC15P068669', 'score': 0.29}, {'connected_gene': 'MEGF11', 'score': 0.18}]
chr15 GH15I066180 66180363 66181408 0.31 [{'connected_gene': 'GC15P068669', 'score': 0.28}, {'connected_gene': 'MEGF11', 'score': 0.19}]
chr15 GH15I066159 66159960 66167500 0.83 [{'connected_gene': 'ENSG00000260773', 'score': 27.93}, {'connected_gene': 'INTS14', 'score': 24.5}, {'connected_gene': 'TIPIN', 'score': 21.74}, {'connected_gene': 'SLC24A1', 'score': 16.3}, {'connected_gene': 'PARP16', 'score': 13.01}, {'connected_gene': 'ZWILCH', 'score': 12.22}, {'connected_gene': 'IGDCC3', 'score': 11.66}, {'connected_gene': 'RPL35AP32', 'score': 11.46}, {'connected_gene': 'SNORD16', 'score': 10.84}, {'connected_gene': 'SNAPC5', 'score': 10.02}, {'connected_gene': 'GC15P068669', 'score': 0.37}, {'connected_gene': 'MEGF11', 'score': 0.16}]
chr15 GH15I066026 66026865 66028032 0.56 [{'connected_gene': 'GC15M066027', 'score': 550.77}, {'connected_gene': 'LOC105370867', 'score': 0.44}, {'connected_gene': 'MEGF11', 'score': 0.07}]
chr15 GH15I066027 66026143 66026332 0.52 [{'connected_gene': 'GC15M066027', 'score': 0.77}, {'connected_gene': 'LOC105370867', 'score': 0.44}, {'connected_gene': 'MEGF11', 'score': 0.07}]
chr15 GH15I066115 66115151 66116208 0.62 [{'connected_gene': 'GC15M066111', 'score': 0.39}, {'connected_gene': 'MIR4311', 'score': 0.18}, {'connected_gene': 'MEGF11', 'score': 0.12}]
chr15 GH15I066089 66089163 66089312 0.31 [{'connected_gene': 'GC15M066111', 'score': 0.28}, {'connected_gene': 'MIR4311', 'score': 0.25}, {'connected_gene': 'MEGF11', 'score': 0.1}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.