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
ENST00000382778 [[21140584, 21141395], [21141808, 21142136], [21148518, 21148614], [21157095, 21157158], [21163949, 21164006], [21165105, 21165159], [21165756, 21165820], [21166473, 21166543], [21170288, 21170379], [21171153, 21171258], [21172789, 21172892], [21173589, 21173704], [21175843, 21176072], [21179173, 21179244], [21189931, 21190018], [21199888, 21199988], [21205154, 21205241], [21212470, 21212657], [21215428, 21215537], [21217593, 21217744], [21218981, 21219097], [21228014, 21228067], [21230503, 21230569], [21237401, 21237525], [21237636, 21237743], [21245111, 21245178], [21264843, 21264954], [21265192, 21265501]] [[21142115, 21142136], [21148518, 21148614], [21157095, 21157158], [21163949, 21164006], [21165105, 21165159], [21165756, 21165820], [21166473, 21166543], [21170288, 21170379], [21171153, 21171258], [21172789, 21172892], [21173589, 21173704], [21175843, 21176072], [21179173, 21179244], [21189931, 21190018], [21199888, 21199988], [21205154, 21205241], [21212470, 21212657], [21215428, 21215537], [21217593, 21217744], [21218981, 21219097], [21228014, 21228067], [21230503, 21230569], [21237401, 21237525], [21237636, 21237743], [21245111, 21245173]]
ENST00000351808 [[21141207, 21141395], [21148518, 21148614], [21157095, 21157158], [21163949, 21164006], [21165105, 21165159], [21165756, 21165820], [21166473, 21166543], [21170288, 21170379], [21171153, 21171258], [21172789, 21172892], [21173589, 21173704], [21175843, 21176072], [21179173, 21179244], [21189931, 21190018], [21199888, 21199988], [21205154, 21205241], [21212470, 21212657], [21215428, 21215537], [21217593, 21217744], [21218981, 21219097], [21228014, 21228067], [21230503, 21230569], [21237636, 21237743], [21245111, 21245178], [21264843, 21264954], [21265192, 21265501]] [[21148524, 21148614], [21157095, 21157158], [21163949, 21164006], [21165105, 21165159], [21165756, 21165820], [21166473, 21166543], [21170288, 21170379], [21171153, 21171258], [21172789, 21172892], [21173589, 21173704], [21175843, 21176072], [21179173, 21179244], [21189931, 21190018], [21199888, 21199988], [21205154, 21205241], [21212470, 21212657], [21215428, 21215537], [21217593, 21217744], [21218981, 21219097], [21228014, 21228067], [21230503, 21230569], [21237636, 21237743], [21245111, 21245178], [21264843, 21264954], [21265192, 21265314]]
ENST00000319980 [[21141276, 21141395], [21141808, 21141924], [21142023, 21142136], [21148518, 21148614], [21157095, 21157158], [21163949, 21164006], [21165105, 21165159], [21165756, 21165820], [21166473, 21166543], [21170288, 21170379], [21171153, 21171258], [21172789, 21172892], [21173589, 21173704], [21175843, 21176072], [21179173, 21179244], [21189931, 21190018], [21199888, 21199988], [21205154, 21205241], [21212470, 21212657], [21215428, 21215537], [21217593, 21217744], [21218981, 21219097], [21228014, 21228067], [21230503, 21230569], [21237636, 21237743], [21245111, 21245178], [21264843, 21264954], [21265192, 21265503]] [[21142115, 21142136], [21148518, 21148614], [21157095, 21157158], [21163949, 21164006], [21165105, 21165159], [21165756, 21165820], [21166473, 21166543], [21170288, 21170379], [21171153, 21171258], [21172789, 21172892], [21173589, 21173704], [21175843, 21176072], [21179173, 21179244], [21189931, 21190018], [21199888, 21199988], [21205154, 21205241], [21212470, 21212657], [21215428, 21215537], [21217593, 21217744], [21218981, 21219097], [21228014, 21228067], [21230503, 21230569], [21237636, 21237743], [21245111, 21245178], [21264843, 21264954], [21265192, 21265314]]
ENST00000537103 [[21141290, 21141395], [21148518, 21148614], [21157095, 21157158], [21165105, 21165159], [21165756, 21165820], [21166473, 21166543], [21170288, 21170379], [21171153, 21171258], [21172789, 21172892], [21173589, 21173704], [21175843, 21176072], [21179173, 21179244], [21189931, 21190018], [21199888, 21199988], [21205154, 21205241], [21212470, 21212657], [21215428, 21215537], [21217593, 21217744], [21218981, 21219097], [21228014, 21228067], [21230503, 21230569], [21237636, 21237743], [21245111, 21245178], [21264843, 21264954], [21265192, 21265501]] [[21148524, 21148614], [21157095, 21157158], [21165105, 21165159], [21165756, 21165820], [21166473, 21166543], [21170288, 21170379], [21171153, 21171258], [21172789, 21172892], [21173589, 21173704], [21175843, 21176072], [21179173, 21179244], [21189931, 21190018], [21199888, 21199988], [21205154, 21205241], [21212470, 21212657], [21215428, 21215537], [21217593, 21217744], [21218981, 21219097], [21228014, 21228067], [21230503, 21230569], [21237636, 21237743], [21245111, 21245178], [21264843, 21264954], [21265192, 21265314]]
ENST00000482172 [[21189929, 21190018], [21199888, 21199988], [21205154, 21205241], [21228014, 21228067], [21230503, 21230569], [21237401, 21237525], [21237636, 21237743], [21245111, 21245178], [21264843, 21264954], [21265192, 21265356]] None
ENST00000389373 [[21141304, 21141395], [21141808, 21142136], [21148518, 21148614], [21157095, 21157155]] [[21148524, 21148614], [21157095, 21157155]]
ENST00000461115 [[21179194, 21179244], [21188495, 21188574], [21189931, 21190018], [21199888, 21199988], [21205154, 21206278]] None
ENST00000460931 [[21205155, 21205241], [21212470, 21212657], [21215428, 21215855]] None
ENST00000470695 [[21237403, 21237743], [21245111, 21245178]] None
NM_001318491 [[21140954, 21141395], [21148518, 21148614], [21157095, 21157158], [21165105, 21165159], [21165756, 21165820], [21166473, 21166543], [21170288, 21170379], [21171153, 21171258], [21172789, 21172892], [21173589, 21173704], [21175843, 21176072], [21179173, 21179244], [21189931, 21190018], [21199888, 21199988], [21205154, 21205241], [21212470, 21212657], [21215428, 21215537], [21217593, 21217744], [21218981, 21219097], [21228014, 21228067], [21230503, 21230569], [21237636, 21237743], [21245111, 21245178], [21264843, 21264954], [21265192, 21265576]] [[21148524, 21148614], [21157095, 21157158], [21165105, 21165159], [21165756, 21165820], [21166473, 21166543], [21170288, 21170379], [21171153, 21171258], [21172789, 21172892], [21173589, 21173704], [21175843, 21176072], [21179173, 21179244], [21189931, 21190018], [21199888, 21199988], [21205154, 21205241], [21212470, 21212657], [21215428, 21215537], [21217593, 21217744], [21218981, 21219097], [21228014, 21228067], [21230503, 21230569], [21237636, 21237743], [21245111, 21245178], [21264843, 21264954], [21265192, 21265314]]
NM_006531 [[21140954, 21141395], [21148518, 21148614], [21157095, 21157158], [21163949, 21164006], [21165105, 21165159], [21165756, 21165820], [21166473, 21166543], [21170288, 21170379], [21171153, 21171258], [21172789, 21172892], [21173589, 21173704], [21175843, 21176072], [21179173, 21179244], [21189931, 21190018], [21199888, 21199988], [21205154, 21205241], [21212470, 21212657], [21215428, 21215537], [21217593, 21217744], [21218981, 21219097], [21228014, 21228067], [21230503, 21230569], [21237636, 21237743], [21245111, 21245178], [21264843, 21264954], [21265192, 21265576]] [[21148524, 21148614], [21157095, 21157158], [21163949, 21164006], [21165105, 21165159], [21165756, 21165820], [21166473, 21166543], [21170288, 21170379], [21171153, 21171258], [21172789, 21172892], [21173589, 21173704], [21175843, 21176072], [21179173, 21179244], [21189931, 21190018], [21199888, 21199988], [21205154, 21205241], [21212470, 21212657], [21215428, 21215537], [21217593, 21217744], [21218981, 21219097], [21228014, 21228067], [21230503, 21230569], [21237636, 21237743], [21245111, 21245178], [21264843, 21264954], [21265192, 21265314]]
NM_175605 [[21140954, 21141395], [21141808, 21141924], [21142023, 21142136], [21148518, 21148614], [21157095, 21157158], [21163949, 21164006], [21165105, 21165159], [21165756, 21165820], [21166473, 21166543], [21170288, 21170379], [21171153, 21171258], [21172789, 21172892], [21173589, 21173704], [21175843, 21176072], [21179173, 21179244], [21189931, 21190018], [21199888, 21199988], [21205154, 21205241], [21212470, 21212657], [21215428, 21215537], [21217593, 21217744], [21218981, 21219097], [21228014, 21228067], [21230503, 21230569], [21237636, 21237743], [21245111, 21245178], [21264843, 21264954], [21265192, 21265576]] [[21142115, 21142136], [21148518, 21148614], [21157095, 21157158], [21163949, 21164006], [21165105, 21165159], [21165756, 21165820], [21166473, 21166543], [21170288, 21170379], [21171153, 21171258], [21172789, 21172892], [21173589, 21173704], [21175843, 21176072], [21179173, 21179244], [21189931, 21190018], [21199888, 21199988], [21205154, 21205241], [21212470, 21212657], [21215428, 21215537], [21217593, 21217744], [21218981, 21219097], [21228014, 21228067], [21230503, 21230569], [21237636, 21237743], [21245111, 21245178], [21264843, 21264954], [21265192, 21265314]]
NM_001318493 [[21140954, 21141395], [21141808, 21142136], [21148518, 21148614], [21157095, 21157158], [21163949, 21164006], [21165105, 21165159], [21165756, 21165820], [21166473, 21166543], [21170288, 21170379], [21171153, 21171258], [21172789, 21172892], [21173589, 21173704], [21175843, 21176072], [21179173, 21179244], [21189931, 21190018], [21199888, 21199988], [21205154, 21205241], [21212470, 21212657], [21215428, 21215537], [21217593, 21217744], [21218981, 21219097], [21228014, 21228067], [21230503, 21230569], [21237636, 21237743], [21245111, 21245178], [21264843, 21264954], [21265192, 21265576]] [[21142115, 21142136], [21148518, 21148614], [21157095, 21157158], [21163949, 21164006], [21165105, 21165159], [21165756, 21165820], [21166473, 21166543], [21170288, 21170379], [21171153, 21171258], [21172789, 21172892], [21173589, 21173704], [21175843, 21176072], [21179173, 21179244], [21189931, 21190018], [21199888, 21199988], [21205154, 21205241], [21212470, 21212657], [21215428, 21215537], [21217593, 21217744], [21218981, 21219097], [21228014, 21228067], [21230503, 21230569], [21237636, 21237743], [21245111, 21245178], [21264843, 21264954], [21265192, 21265314]]
NR_134653 [[21140954, 21141395], [21141808, 21142136], [21148518, 21148614], [21157095, 21157158], [21163949, 21164006], [21165105, 21165159], [21165756, 21165820], [21166473, 21166543], [21170288, 21170379], [21171153, 21171258], [21172789, 21172892], [21173589, 21173704], [21175843, 21176072], [21179173, 21179244], [21189931, 21190018], [21199888, 21199988], [21205154, 21205241], [21212470, 21212657], [21215428, 21215537], [21217593, 21217744], [21218981, 21219097], [21228014, 21228067], [21230503, 21230569], [21237401, 21237525], [21237636, 21237743], [21245111, 21245178], [21264843, 21264954], [21265192, 21265576]] None
Promoter
Chrom Start End Description
chr13 21141254 21141265 CAGE_peak_2_at_IFT88_5end
chr13 21141270 21141349 CAGE_peak_1_at_IFT88_5end
chr13 21141359 21141369 CAGE_peak_3_at_IFT88_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I020556 20556843 20561483 1.07 [{'connected_gene': 'IFT88', 'score': 21.96}, {'connected_gene': 'SLC35E1P1', 'score': 18.22}, {'connected_gene': 'IL17D', 'score': 4.89}, {'connected_gene': 'LOC105370103', 'score': 0.44}, {'connected_gene': 'CRYL1', 'score': 0.29}]
chr13 GH13I020544 20544722 20544871 0.43 [{'connected_gene': 'IFT88', 'score': 12.8}, {'connected_gene': 'XPO4', 'score': 10.57}, {'connected_gene': 'CRYL1', 'score': 0.37}]
chr13 GH13I020538 20538800 20539001 0.54 [{'connected_gene': 'IFT88', 'score': 12.77}, {'connected_gene': 'XPO4', 'score': 10.57}, {'connected_gene': 'CRYL1', 'score': 0.39}]
chr13 GH13I020545 20544401 20544600 0.38 [{'connected_gene': 'IFT88', 'score': 12.8}, {'connected_gene': 'XPO4', 'score': 10.57}, {'connected_gene': 'CRYL1', 'score': 0.37}]
chr13 GH13I020708 20708427 20710137 0.66 [{'connected_gene': 'IFT88', 'score': 29.57}, {'connected_gene': 'XPO4', 'score': 11.59}, {'connected_gene': 'EEF1AKMT1', 'score': 11.46}, {'connected_gene': 'SLC35E1P1', 'score': 11.17}, {'connected_gene': 'CRYL1', 'score': 10.83}, {'connected_gene': 'ENSG00000279135', 'score': 0.77}, {'connected_gene': 'GC13M020702', 'score': 0.44}, {'connected_gene': 'IL17D', 'score': 0.44}, {'connected_gene': 'ENSG00000278291', 'score': 0.44}]
chr13 GH13I020882 20882283 20883311 0.8 [{'connected_gene': 'IFT88', 'score': 13.29}, {'connected_gene': 'GC13P020892', 'score': 0.44}, {'connected_gene': 'XPO4', 'score': 0.34}, {'connected_gene': 'EEF1AKMT1', 'score': 0.14}]
chr13 GH13I020552 20552722 20554933 1.21 [{'connected_gene': 'IFT88', 'score': 21.9}, {'connected_gene': 'CRYL1', 'score': 13.71}, {'connected_gene': 'SLC35E1P1', 'score': 11.54}, {'connected_gene': 'EEF1AKMT1', 'score': 10.06}, {'connected_gene': 'IL17D', 'score': 6.28}, {'connected_gene': 'LOC105370103', 'score': 0.39}]
chr13 GH13I020565 20565828 20568755 2.02 [{'connected_gene': 'IFT88', 'score': 571.7}, {'connected_gene': 'PIR57097', 'score': 550.77}, {'connected_gene': 'LOC105370103', 'score': 550.77}, {'connected_gene': 'SLC35E1P1', 'score': 19.96}, {'connected_gene': 'ZMYM2', 'score': 14.51}, {'connected_gene': 'XPO4', 'score': 13.63}, {'connected_gene': 'ZMYM5', 'score': 12.06}, {'connected_gene': 'CRYL1', 'score': 11.33}, {'connected_gene': 'IL17D', 'score': 4.88}]
chr13 GH13I020471 20471087 20471275 0.24 [{'connected_gene': 'IFT88', 'score': 1.42}, {'connected_gene': 'MIR4499', 'score': 0.28}, {'connected_gene': 'CRYL1', 'score': 0.23}]
chr13 GH13I020684 20684059 20685725 0.38 [{'connected_gene': 'SLC35E1P1', 'score': 25.15}, {'connected_gene': 'IFT88', 'score': 19.75}, {'connected_gene': 'IL17D', 'score': 4.79}, {'connected_gene': 'GC13P020646', 'score': 0.26}, {'connected_gene': 'PIR33855', 'score': 0.26}]
chr13 GH13I020608 20608757 20610153 0.43 [{'connected_gene': 'SLC35E1P1', 'score': 25.97}, {'connected_gene': 'IFT88', 'score': 20.71}, {'connected_gene': 'CRYL1', 'score': 10.9}, {'connected_gene': 'GC13P020614', 'score': 0.77}]
chr13 GH13I020669 20669262 20669411 0.38 [{'connected_gene': 'SLC35E1P1', 'score': 25.14}, {'connected_gene': 'GC13P020646', 'score': 0.31}, {'connected_gene': 'PIR33855', 'score': 0.31}, {'connected_gene': 'IL17D', 'score': 0.29}, {'connected_gene': 'IFT88', 'score': 0.15}]
chr13 GH13I020615 20615722 20616705 0.43 [{'connected_gene': 'SLC35E1P1', 'score': 22.25}, {'connected_gene': 'IL17D', 'score': 4.59}, {'connected_gene': 'RNU2-7P', 'score': 0.77}, {'connected_gene': 'GC13P020646', 'score': 0.31}, {'connected_gene': 'PIR33855', 'score': 0.31}, {'connected_gene': 'IFT88', 'score': 0.25}]
chr13 GH13I020901 20901221 20903601 1.96 [{'connected_gene': 'XPO4', 'score': 550.77}, {'connected_gene': 'IFT88', 'score': 13.38}, {'connected_gene': 'GC13P020892', 'score': 0.39}]
chr13 GH13I020580 20580402 20580551 0.57 [{'connected_gene': 'CRYL1', 'score': 11.51}, {'connected_gene': 'PIR57097', 'score': 0.39}, {'connected_gene': 'IFT88', 'score': 0.39}, {'connected_gene': 'SLC35E1P1', 'score': 0.31}]
chr13 GH13I020716 20716673 20718741 0.43 [{'connected_gene': 'CRYL1', 'score': 15.33}, {'connected_gene': 'IFT88', 'score': 13.38}, {'connected_gene': 'EEF1AKMT1', 'score': 11.64}, {'connected_gene': 'XPO4', 'score': 11.59}, {'connected_gene': 'ENSG00000279135', 'score': 0.44}, {'connected_gene': 'GC13M020722', 'score': 0.44}, {'connected_gene': 'IL17D', 'score': 0.37}]
chr13 GH13I020546 20546322 20548355 0.92 [{'connected_gene': 'CRYL1', 'score': 17.31}, {'connected_gene': 'IFT88', 'score': 11.72}, {'connected_gene': 'EEF1AKMT1', 'score': 10.06}]
chr13 GH13I020474 20474396 20477618 1.29 [{'connected_gene': 'CRYL1', 'score': 22.51}, {'connected_gene': 'IFT88', 'score': 1.68}, {'connected_gene': 'MIR4499', 'score': 0.26}]
chr13 GH13I020528 20528596 20528799 0.81 [{'connected_gene': 'CRYL1', 'score': 0.77}, {'connected_gene': 'IFT88', 'score': 0.28}]
chr13 GH13I020667 20667379 20667563 0.26 [{'connected_gene': 'CRYL1', 'score': 10.87}, {'connected_gene': 'GC13P020646', 'score': 0.34}, {'connected_gene': 'PIR33855', 'score': 0.34}, {'connected_gene': 'IL17D', 'score': 0.29}, {'connected_gene': 'IFT88', 'score': 0.15}]
chr13 GH13I020772 20772299 20774571 1.99 [{'connected_gene': 'EEF1AKMT1', 'score': 556.84}, {'connected_gene': 'ZMYM5', 'score': 14.61}, {'connected_gene': 'SLC35E1P1', 'score': 14.31}, {'connected_gene': 'RNU2-7P', 'score': 11.96}, {'connected_gene': 'RPS7P10', 'score': 10.83}, {'connected_gene': 'IFT88', 'score': 10.69}, {'connected_gene': 'ZMYM2', 'score': 10.18}, {'connected_gene': 'CRYL1', 'score': 5.54}, {'connected_gene': 'XPO4', 'score': 5.17}, {'connected_gene': 'ENSG00000275485', 'score': 0.77}]
chr13 GH13I020812 20812984 20815943 1.29 [{'connected_gene': 'EEF1AKMT1', 'score': 18.43}, {'connected_gene': 'IFT88', 'score': 12.57}, {'connected_gene': 'GC13P020892', 'score': 0.18}, {'connected_gene': 'XPO4', 'score': 0.17}]
chr13 GH13I020730 20730486 20730839 0.22 [{'connected_gene': 'EEF1AKMT1', 'score': 12.11}, {'connected_gene': 'IL17D', 'score': 10.45}, {'connected_gene': 'CRYL1', 'score': 10.39}, {'connected_gene': 'XPO4', 'score': 5.88}, {'connected_gene': 'IFT88', 'score': 4.92}, {'connected_gene': 'GC13M020722', 'score': 0.44}, {'connected_gene': 'RANP8', 'score': 0.37}]
chr13 GH13I020822 20822940 20826336 0.7 [{'connected_gene': 'EEF1AKMT1', 'score': 18.47}, {'connected_gene': 'CRYL1', 'score': 15.11}, {'connected_gene': 'SLC35E1P1', 'score': 13.32}, {'connected_gene': 'IFT88', 'score': 12.19}, {'connected_gene': 'IL17D', 'score': 10.22}, {'connected_gene': 'GC13P020892', 'score': 0.2}, {'connected_gene': 'XPO4', 'score': 0.18}]
chr13 GH13I020800 20800862 20802548 0.75 [{'connected_gene': 'EEF1AKMT1', 'score': 12.08}, {'connected_gene': 'CRYL1', 'score': 10.0}, {'connected_gene': 'XPO4', 'score': 5.64}, {'connected_gene': 'IFT88', 'score': 4.61}, {'connected_gene': 'GC13P020892', 'score': 0.16}]
chr13 GH13I020720 20720879 20722444 0.74 [{'connected_gene': 'GC13M020722', 'score': 550.77}, {'connected_gene': 'IFT88', 'score': 11.67}, {'connected_gene': 'EEF1AKMT1', 'score': 11.65}, {'connected_gene': 'CRYL1', 'score': 10.36}, {'connected_gene': 'IL17D', 'score': 7.75}, {'connected_gene': 'ENSG00000279135', 'score': 0.44}]
chr13 GH13I020712 20712551 20716039 1.03 [{'connected_gene': 'ENSG00000279135', 'score': 550.77}, {'connected_gene': 'SLC35E1P1', 'score': 12.5}, {'connected_gene': 'IFT88', 'score': 11.88}, {'connected_gene': 'XPO4', 'score': 11.59}, {'connected_gene': 'EEF1AKMT1', 'score': 11.47}, {'connected_gene': 'CRYL1', 'score': 9.99}, {'connected_gene': 'GC13M020722', 'score': 0.44}, {'connected_gene': 'IL17D', 'score': 0.39}]
chr13 GH13I020702 20702003 20704801 1.84 [{'connected_gene': 'GC13M020702', 'score': 550.77}, {'connected_gene': 'IL17D', 'score': 550.77}, {'connected_gene': 'ENSG00000278291', 'score': 550.77}, {'connected_gene': 'IFT88', 'score': 30.5}, {'connected_gene': 'EEF1AKMT1', 'score': 11.4}, {'connected_gene': 'CRYL1', 'score': 10.84}]

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