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
ENST00000388742 [[72109667, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229924], [72233968, 72234114], [72234433, 72234503], [72246331, 72246409], [72267016, 72267144], [72268696, 72268913]] [[72111574, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229924], [72233968, 72234114], [72234433, 72234503], [72246331, 72246409], [72267016, 72267140]]
ENST00000465115 [[72109667, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229909], [72233968, 72234047], [72234433, 72234503], [72246331, 72246409], [72267016, 72267144], [72268696, 72268746], [72273881, 72273966]] [[72211386, 72211468], [72211872, 72211955], [72229786, 72229909], [72233968, 72234047], [72234433, 72234503], [72246331, 72246409], [72267016, 72267140]]
ENST00000340726 [[72109667, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229924], [72233968, 72234114], [72234433, 72234503], [72246331, 72246409], [72267016, 72267144], [72268696, 72268746], [72273881, 72274467]] [[72111574, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229924], [72233968, 72234114], [72234433, 72234503], [72246331, 72246409], [72267016, 72267140]]
ENST00000388740 [[72109669, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229924], [72233968, 72234114], [72234433, 72234503], [72246331, 72246409], [72268696, 72268979]] [[72111574, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229924], [72233968, 72234114], [72234433, 72234503], [72246331, 72246409], [72268696, 72268721]]
ENST00000303824 [[72109673, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229909], [72233968, 72234111], [72234433, 72234503], [72246331, 72246409], [72267016, 72267144], [72268696, 72268746], [72273881, 72274095]] [[72111574, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229909], [72233968, 72234111], [72234433, 72234503], [72246331, 72246409], [72267016, 72267140]]
ENST00000388741 [[72110362, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229924], [72233968, 72234111], [72234433, 72234503], [72246331, 72246409], [72268696, 72268746], [72273881, 72274371]] [[72111574, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229924], [72233968, 72234111], [72234433, 72234503], [72246331, 72246409], [72268696, 72268721]]
ENST00000388743 [[72111303, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229924], [72233968, 72234111], [72234433, 72234503], [72246331, 72246409], [72267016, 72267144], [72268696, 72268844]] [[72111574, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229924], [72233968, 72234111], [72234433, 72234503], [72246331, 72246409], [72267016, 72267140]]
ENST00000496494 [[72111475, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229924], [72233968, 72234503], [72246331, 72246409], [72267016, 72267144], [72268696, 72268868]] None
ENST00000419131 [[72111554, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229909], [72233968, 72234114], [72234433, 72234503], [72246331, 72246409], [72267016, 72267144], [72268696, 72268721]] [[72111574, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229909], [72233968, 72234114], [72234433, 72234503], [72246331, 72246409], [72267016, 72267140]]
ENST00000493349 [[72127729, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72137386, 72137540], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211343]] [[72137471, 72137540], [72156837, 72156894]]
ENST00000422295 [[72229893, 72229924], [72233968, 72234114], [72234433, 72234696]] None
NM_172059 [[72109667, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229909], [72233968, 72234114], [72234433, 72234503], [72246331, 72246409], [72267016, 72267144], [72268696, 72268746]] [[72111574, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229909], [72233968, 72234114], [72234433, 72234503], [72246331, 72246409], [72267016, 72267140]]
NM_172058 [[72109667, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229924], [72233968, 72234114], [72234433, 72234503], [72246331, 72246409], [72267016, 72267144], [72268696, 72268924]] [[72111574, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229924], [72233968, 72234114], [72234433, 72234503], [72246331, 72246409], [72267016, 72267140]]
NM_172060 [[72109667, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229924], [72233968, 72234114], [72234433, 72234503], [72246331, 72246409], [72268696, 72268924]] [[72111574, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229924], [72233968, 72234114], [72234433, 72234503], [72246331, 72246409], [72268696, 72268721]]
NM_000503 [[72109667, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229924], [72233968, 72234114], [72234433, 72234503], [72246331, 72246409], [72267016, 72267144], [72268696, 72268746], [72273881, 72274467]] [[72111574, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229924], [72233968, 72234114], [72234433, 72234503], [72246331, 72246409], [72267016, 72267140]]
NM_001288574 [[72109667, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229909], [72233968, 72234111], [72234433, 72234503], [72246331, 72246409], [72267016, 72267144], [72268696, 72268746], [72273881, 72274467]] [[72111574, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229909], [72233968, 72234111], [72234433, 72234503], [72246331, 72246409], [72267016, 72267140]]
NM_001288575 [[72109667, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229909], [72233968, 72234047], [72234433, 72234503], [72246331, 72246409], [72267016, 72267144], [72268696, 72268746], [72273881, 72274467]] [[72111574, 72111655], [72123390, 72123491], [72127621, 72127743], [72127848, 72127963], [72128926, 72129087], [72129199, 72129258], [72156837, 72156927], [72181974, 72182058], [72183992, 72184132], [72211281, 72211468], [72211872, 72211955], [72229786, 72229909], [72233968, 72234035]]
Promoter
Chrom Start End Description
chr8 72234691 72234696 CAGE_peak_13_at_EYA1_5end
chr8 72268870 72268881 CAGE_peak_14_at_EYA1_5end
chr8 72268889 72268955 CAGE_peak_1_at_EYA1_5end
chr8 72268968 72268987 CAGE_peak_8_at_EYA1_5end
chr8 72273998 72274010 CAGE_peak_7_at_EYA1_5end
chr8 72274013 72274036 CAGE_peak_5_at_EYA1_5end
chr8 72274103 72274116 CAGE_peak_3_at_EYA1_5end
chr8 72274182 72274188 CAGE_peak_18_at_EYA1_5end
chr8 72274290 72274320 CAGE_peak_2_at_EYA1_5end
chr8 72274327 72274338 CAGE_peak_6_at_EYA1_5end
chr8 72274355 72274372 CAGE_peak_4_at_EYA1_5end
chr8 72274470 72274490 CAGE_peak_10_at_EYA1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I071560 71558186 71558295 0.38 [{'connected_gene': 'EYA1', 'score': 0.39}, {'connected_gene': 'LOC105375892', 'score': 0.29}]
chr8 GH08I071553 71553941 71555296 0.56 [{'connected_gene': 'EYA1', 'score': 9.26}, {'connected_gene': 'ENSG00000200191', 'score': 9.08}, {'connected_gene': 'LOC105375892', 'score': 0.28}]
chr8 GH08I071558 71558426 71558555 0.31 [{'connected_gene': 'EYA1', 'score': 11.46}, {'connected_gene': 'LOC105375892', 'score': 0.29}]
chr8 GH08I071559 71557846 71557975 0.43 [{'connected_gene': 'EYA1', 'score': 0.44}, {'connected_gene': 'LOC105375892', 'score': 0.29}]
chr8 GH08I071520 71520566 71520715 0.52 [{'connected_gene': 'EYA1', 'score': 12.51}, {'connected_gene': 'LOC102724772', 'score': 0.31}, {'connected_gene': 'TRAPPC2P2', 'score': 0.19}, {'connected_gene': 'LOC105375892', 'score': 0.19}]
chr8 GH08I071548 71548806 71548915 0.2 [{'connected_gene': 'EYA1', 'score': 550.77}, {'connected_gene': 'LOC102724772', 'score': 550.77}, {'connected_gene': 'LOC105375892', 'score': 0.26}]
chr8 GH08I071547 71547449 71548285 1.04 [{'connected_gene': 'EYA1', 'score': 561.9}, {'connected_gene': 'LOC102724772', 'score': 550.77}, {'connected_gene': 'LOC105375892', 'score': 0.26}]
chr8 GH08I071275 71275650 71275962 0.27 [{'connected_gene': 'EYA1', 'score': 1.46}, {'connected_gene': 'GC08M071253', 'score': 0.37}, {'connected_gene': 'GC08M071444', 'score': 0.1}]
chr8 GH08I071356 71356004 71357571 1.6 [{'connected_gene': 'EYA1', 'score': 550.08}, {'connected_gene': 'GC08M071444', 'score': 0.17}, {'connected_gene': 'GC08M071253', 'score': 0.15}]
chr8 GH08I071360 71360313 71362912 1.84 [{'connected_gene': 'EYA1', 'score': 550.09}, {'connected_gene': 'GC08M071444', 'score': 0.18}, {'connected_gene': 'GC08M071253', 'score': 0.15}]
chr8 GH08I071327 71327626 71327755 0.68 [{'connected_gene': 'EYA1', 'score': 11.14}, {'connected_gene': 'GC08M071253', 'score': 0.2}, {'connected_gene': 'GC08M071444', 'score': 0.13}]
chr8 GH08I071556 71556496 71556749 0.35 [{'connected_gene': 'LOC105375892', 'score': 11.87}, {'connected_gene': 'EYA1', 'score': 2.78}]
chr8 GH08I071590 71590937 71592202 0.56 [{'connected_gene': 'LOC105375892', 'score': 550.77}, {'connected_gene': 'EYA1', 'score': 0.26}]
chr8 GH08I071557 71557226 71557655 0.69 [{'connected_gene': 'LOC105375892', 'score': 11.89}, {'connected_gene': 'EYA1', 'score': 7.13}]
chr8 GH08I071322 71322546 71322695 0.43 [{'connected_gene': 'GC08M071253', 'score': 0.21}, {'connected_gene': 'GC08M071444', 'score': 0.13}, {'connected_gene': 'EYA1', 'score': 0.07}]
chr8 GH08I071359 71359274 71359625 0.51 [{'connected_gene': 'GC08M071444', 'score': 0.17}, {'connected_gene': 'GC08M071253', 'score': 0.15}, {'connected_gene': 'EYA1', 'score': 0.09}]
chr8 GH08I071358 71358466 71358675 0.51 [{'connected_gene': 'GC08M071444', 'score': 0.17}, {'connected_gene': 'GC08M071253', 'score': 0.15}, {'connected_gene': 'EYA1', 'score': 0.09}]
chr8 GH08I071282 71282692 71283065 0.24 [{'connected_gene': 'GC08M071253', 'score': 0.34}, {'connected_gene': 'GC08M071444', 'score': 0.1}, {'connected_gene': 'EYA1', 'score': 0.06}]
chr8 GH08I071218 71218510 71219675 0.52 [{'connected_gene': 'ENSG00000200191', 'score': 9.53}, {'connected_gene': 'GC08M071253', 'score': 0.26}, {'connected_gene': 'LOC105375894', 'score': 0.21}, {'connected_gene': 'EYA1', 'score': 0.05}]
chr8 GH08I071232 71232286 71232375 0.38 [{'connected_gene': 'ENSG00000200191', 'score': 9.48}, {'connected_gene': 'GC08M071253', 'score': 0.31}, {'connected_gene': 'LOC105375894', 'score': 0.18}, {'connected_gene': 'EYA1', 'score': 0.06}]
chr8 GH08I071229 71229946 71230095 0.31 [{'connected_gene': 'GC08M071253', 'score': 0.31}, {'connected_gene': 'LOC105375894', 'score': 0.19}, {'connected_gene': 'EYA1', 'score': 0.06}]
chr8 GH08I071257 71257554 71259940 0.8 [{'connected_gene': 'GC08M071253', 'score': 550.77}, {'connected_gene': 'LOC105375894', 'score': 0.15}, {'connected_gene': 'EYA1', 'score': 0.06}]
chr8 GH08I071231 71231444 71231704 0.22 [{'connected_gene': 'GC08M071253', 'score': 0.31}, {'connected_gene': 'LOC105375894', 'score': 0.18}, {'connected_gene': 'EYA1', 'score': 0.06}]
chr8 GH08I071234 71234904 71235284 0.22 [{'connected_gene': 'ENSG00000200191', 'score': 9.48}, {'connected_gene': 'GC08M071253', 'score': 0.34}, {'connected_gene': 'LOC105375894', 'score': 0.18}, {'connected_gene': 'EYA1', 'score': 0.06}]

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