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
ENST00000534368 [[125440194, 125440534], [125541223, 125541339], [125550263, 125550412], [125569427, 125569506]] [[125541291, 125541339], [125550263, 125550412], [125569427, 125569506]]
ENST00000304877 [[125474794, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125573167, 125573182], [125574862, 125574901], [125578243, 125578304], [125583979, 125584643]] [[125475097, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125573167, 125573182], [125574862, 125574901], [125578243, 125578304], [125583979, 125584108]]
ENST00000534000 [[125474801, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125574862, 125574901], [125578243, 125578304], [125583979, 125585553]] [[125475097, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125574862, 125574901], [125578243, 125578304], [125583979, 125584108]]
ENST00000368402 [[125474878, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125574862, 125574901], [125583979, 125584643]] [[125475097, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125574862, 125574901], [125583979, 125583989]]
ENST00000368388 [[125474910, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125583979, 125585553]] [[125475097, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125583979, 125583989]]
ENST00000527711 [[125474938, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125578243, 125578304], [125583979, 125584372]] [[125475097, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125578243, 125578304], [125583979, 125584108]]
ENST00000392483 [[125474994, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569621]] None
ENST00000528193 [[125475045, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125574862, 125574901], [125578243, 125578326], [125583979, 125584208]] [[125475097, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125574862, 125574901], [125578243, 125578319]]
ENST00000532978 [[125475334, 125475678], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125573167, 125574945]] None
ENST00000532429 [[125475334, 125475678], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125574862, 125574901], [125578243, 125578304], [125583979, 125584190]] [[125541291, 125541339], [125550263, 125550412], [125569427, 125569529], [125574862, 125574901], [125578243, 125578304], [125583979, 125584108]]
ENST00000534199 [[125475526, 125475678], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125583979, 125584271]] [[125541291, 125541339], [125550263, 125550412], [125569427, 125569529], [125583979, 125583989]]
ENST00000392482 [[125524784, 125524923], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125583979, 125584638]] [[125541291, 125541339], [125550263, 125550412], [125569427, 125569529], [125583979, 125583989]]
ENST00000524679 [[125540990, 125541339], [125550263, 125550412], [125569427, 125569529], [125583979, 125584294]] [[125541291, 125541339], [125550263, 125550412], [125569427, 125569529], [125583979, 125583989]]
ENST00000532423 [[125550212, 125550412], [125569427, 125569529], [125583979, 125584184]] None
ENST00000530868 [[125552352, 125552383], [125569427, 125569529], [125574862, 125574901], [125578243, 125578304], [125583979, 125584396]] None
ENST00000576089 [[125581108, 125581526], [125583979, 125584203]] None
ENST00000571678 [[125582156, 125584642]] None
NM_001003397 [[125474874, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125583979, 125585553]] [[125475097, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125583979, 125583989]]
NM_001300994 [[125474874, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125578243, 125578304], [125583979, 125585553]] [[125475097, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125578243, 125578304], [125583979, 125584108]]
NM_001003396 [[125474874, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125574862, 125574901], [125583979, 125585553]] [[125475097, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125574862, 125574901], [125583979, 125583989]]
NM_003287 [[125474874, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125574862, 125574901], [125578243, 125578304], [125583979, 125585553]] [[125475097, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125574862, 125574901], [125578243, 125578304], [125583979, 125584108]]
NM_001318903 [[125474874, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125573167, 125573182], [125574862, 125574901], [125578243, 125578304], [125583979, 125585553]] [[125475097, 125475116], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125573167, 125573182], [125574862, 125574901], [125578243, 125578304], [125583979, 125584108]]
NM_001292026 [[125475334, 125475678], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125583979, 125585553]] [[125541291, 125541339], [125550263, 125550412], [125569427, 125569529], [125583979, 125583989]]
NM_001003395 [[125475334, 125475678], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125574862, 125574901], [125578243, 125578304], [125583979, 125585553]] [[125541291, 125541339], [125550263, 125550412], [125569427, 125569529], [125574862, 125574901], [125578243, 125578304], [125583979, 125584108]]
NM_001318907 [[125524784, 125524923], [125541223, 125541339], [125550263, 125550412], [125569427, 125569529], [125583979, 125585553]] [[125541291, 125541339], [125550263, 125550412], [125569427, 125569529], [125583979, 125583989]]
Promoter
Chrom Start End Description
chr6 125474859 125474934 CAGE_peak_2_at_TPD52L1_5end
chr6 125474939 125474991 CAGE_peak_1_at_TPD52L1_5end
chr6 125474992 125475044 CAGE_peak_3_at_TPD52L1_5end
chr6 125475074 125475085 CAGE_peak_5_at_TPD52L1_5end
chr6 125475382 125475415 CAGE_peak_4_at_TPD52L1_5end
chr6 125524852 125524861 CAGE_peak_7_at_TPD52L1_5end
chr6 125540724 125540736 CAGE_peak_12_at_TPD52L1_5end
chr6 125540884 125540897 CAGE_peak_9_at_TPD52L1_5end
chr6 125540901 125540910 CAGE_peak_15_at_TPD52L1_5end
chr6 125540918 125540931 CAGE_peak_6_at_TPD52L1_5end
chr6 125540951 125540969 CAGE_peak_8_at_TPD52L1_5end
chr6 125541245 125541259 CAGE_peak_16_at_TPD52L1_5end
chr6 125550179 125550191 CAGE_peak_20_at_TPD52L1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I125153 125153155 125155585 2.04 [{'connected_gene': 'TPD52L1', 'score': 566.94}, {'connected_gene': 'HDDC2', 'score': 20.83}, {'connected_gene': 'LOC100126584', 'score': 0.26}]
chr6 GH06I125278 125278262 125278599 0.44 [{'connected_gene': 'TPD52L1', 'score': 4.47}, {'connected_gene': 'HDDC2', 'score': 0.34}, {'connected_gene': 'LOC100126584', 'score': 0.18}]
chr6 GH06I125149 125149635 125149784 0.76 [{'connected_gene': 'TPD52L1', 'score': 0.29}, {'connected_gene': 'LOC100126584', 'score': 0.25}]
chr6 GH06I125123 125123228 125125092 0.87 [{'connected_gene': 'TPD52L1', 'score': 0.44}, {'connected_gene': 'LOC100126584', 'score': 0.19}]
chr6 GH06I125128 125128866 125129815 0.2 [{'connected_gene': 'TPD52L1', 'score': 0.39}, {'connected_gene': 'LOC100126584', 'score': 0.2}]
chr6 GH06I125094 125094392 125096423 0.97 [{'connected_gene': 'TRMT11', 'score': 12.16}, {'connected_gene': 'GC06P125084', 'score': 0.39}, {'connected_gene': 'TPD52L1', 'score': 0.34}]
chr6 GH06I125200 125200544 125203361 1.21 [{'connected_gene': 'HDDC2', 'score': 21.37}, {'connected_gene': 'TPD52L1', 'score': 5.37}, {'connected_gene': 'LOC100126584', 'score': 0.77}]
chr6 GH06I125221 125221920 125223364 0.2 [{'connected_gene': 'HDDC2', 'score': 19.12}, {'connected_gene': 'TPD52L1', 'score': 5.75}, {'connected_gene': 'LOC100126584', 'score': 0.34}]
chr6 GH06I125218 125218861 125221454 0.4 [{'connected_gene': 'HDDC2', 'score': 19.12}, {'connected_gene': 'TPD52L1', 'score': 5.61}, {'connected_gene': 'LOC100126584', 'score': 0.34}]
chr6 GH06I125203 125203483 125203824 0.95 [{'connected_gene': 'HDDC2', 'score': 24.46}, {'connected_gene': 'LOC100126584', 'score': 0.44}, {'connected_gene': 'TPD52L1', 'score': 0.18}]
chr6 GH06I125252 125252740 125253523 0.31 [{'connected_gene': 'HDDC2', 'score': 9.56}, {'connected_gene': 'LOC100126584', 'score': 0.22}, {'connected_gene': 'TPD52L1', 'score': 0.12}]
chr6 GH06I125258 125258824 125258890 0.5 [{'connected_gene': 'HDDC2', 'score': 0.26}, {'connected_gene': 'LOC100126584', 'score': 0.21}, {'connected_gene': 'TPD52L1', 'score': 0.12}]
chr6 GH06I125187 125187783 125189465 0.9 [{'connected_gene': 'HDDC2', 'score': 16.28}, {'connected_gene': 'LOC100126584', 'score': 0.44}, {'connected_gene': 'TPD52L1', 'score': 0.2}]
chr6 GH06I125191 125191423 125194026 1.04 [{'connected_gene': 'HDDC2', 'score': 13.51}, {'connected_gene': 'LOC100126584', 'score': 0.44}, {'connected_gene': 'TPD52L1', 'score': 0.19}]
chr6 GH06I125261 125261738 125263216 0.31 [{'connected_gene': 'HDDC2', 'score': 8.3}, {'connected_gene': 'LOC100126584', 'score': 0.21}, {'connected_gene': 'TPD52L1', 'score': 0.11}]
chr6 GH06I125098 125098969 125105427 1.69 [{'connected_gene': 'RNF217', 'score': 4.49}, {'connected_gene': 'HDDC2', 'score': 4.48}, {'connected_gene': 'GC06P125084', 'score': 0.37}, {'connected_gene': 'TPD52L1', 'score': 0.37}]
chr6 GH06I125169 125169175 125169324 0.49 [{'connected_gene': 'LOC100126584', 'score': 0.31}, {'connected_gene': 'TPD52L1', 'score': 0.23}]
chr6 GH06I125190 125190318 125190407 0.2 [{'connected_gene': 'LOC100126584', 'score': 0.44}, {'connected_gene': 'TPD52L1', 'score': 0.19}]
chr6 GH06I125196 125196285 125199146 0.98 [{'connected_gene': 'LOC100126584', 'score': 550.77}, {'connected_gene': 'TRMT11', 'score': 14.5}, {'connected_gene': 'HDDC2', 'score': 11.48}, {'connected_gene': 'TPD52L1', 'score': 4.84}]
chr6 GH06I125245 125245382 125245971 0.6 [{'connected_gene': 'LOC100126584', 'score': 0.25}, {'connected_gene': 'HDDC2', 'score': 0.22}, {'connected_gene': 'TPD52L1', 'score': 0.13}]
chr6 GH06I125229 125229001 125229200 0.2 [{'connected_gene': 'LOC100126584', 'score': 0.29}, {'connected_gene': 'HDDC2', 'score': 0.19}, {'connected_gene': 'TPD52L1', 'score': 0.14}]

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