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
ENST00000336375 [[132036210, 132036420], [132047110, 132047206], [132050490, 132050577], [132051035, 132051188], [132056299, 132056398], [132061395, 132061488], [132063770, 132063903], [132068763, 132068846], [132071563, 132071667], [132075529, 132077596]] [[132036300, 132036420], [132047110, 132047206], [132050490, 132050577], [132051035, 132051188], [132056299, 132056398], [132061395, 132061488], [132063770, 132063903], [132068763, 132068846], [132071563, 132071667], [132075529, 132075722]]
ENST00000495911 [[132036212, 132036420], [132047110, 132047206], [132051035, 132051188], [132056299, 132056398], [132061395, 132061423]] [[132036300, 132036420], [132047110, 132047206], [132051035, 132051188], [132056299, 132056398], [132061395, 132061423]]
ENST00000475741 [[132036249, 132036420], [132047110, 132047206], [132050490, 132050577], [132051035, 132051188], [132061395, 132061488], [132063770, 132063903], [132068763, 132068846], [132071563, 132071667], [132075529, 132075851]] [[132036300, 132036420], [132047110, 132047206], [132050490, 132050577], [132051035, 132051188], [132061395, 132061488], [132063770, 132063903], [132068763, 132068846], [132071563, 132071667], [132075529, 132075722]]
ENST00000351273 [[132036250, 132036420], [132047110, 132047206], [132050490, 132050577], [132051035, 132051188], [132056299, 132056398], [132061395, 132061488], [132063770, 132063903], [132068763, 132068846], [132071563, 132071667], [132075529, 132075699], [132086547, 132087142]] [[132036300, 132036420], [132047110, 132047206], [132050490, 132050577], [132051035, 132051188], [132056299, 132056398], [132061395, 132061488], [132063770, 132063903], [132068763, 132068846], [132071563, 132071667], [132075529, 132075699], [132086547, 132086666]]
ENST00000493235 [[132036269, 132036420], [132047110, 132047206], [132050490, 132050577], [132051035, 132051188], [132056319, 132056387]] None
ENST00000489084 [[132036280, 132036420], [132047110, 132047206], [132050490, 132050577], [132051035, 132051188], [132052249, 132052336]] None
ENST00000483689 [[132047167, 132047206], [132050490, 132050577], [132051035, 132051470]] None
ENST00000512463 [[132056195, 132056398], [132061395, 132061488], [132063770, 132063903], [132068763, 132068846], [132071563, 132071632]] None
ENST00000507647 [[132071645, 132071667], [132075529, 132075699], [132077260, 132077564]] [[132071645, 132071667], [132075529, 132075699], [132077260, 132077367]]
NM_001292037 [[132036210, 132036420], [132047110, 132047206], [132050490, 132050577], [132051035, 132051188], [132061395, 132061488], [132063770, 132063903], [132068763, 132068846], [132071563, 132071667], [132075529, 132077690]] [[132036300, 132036420], [132047110, 132047206], [132050490, 132050577], [132051035, 132051188], [132061395, 132061488], [132063770, 132063903], [132068763, 132068846], [132071563, 132071667], [132075529, 132075722]]
NM_001099 [[132036210, 132036420], [132047110, 132047206], [132050490, 132050577], [132051035, 132051188], [132056299, 132056398], [132061395, 132061488], [132063770, 132063903], [132068763, 132068846], [132071563, 132071667], [132075529, 132077690]] [[132036300, 132036420], [132047110, 132047206], [132050490, 132050577], [132051035, 132051188], [132056299, 132056398], [132061395, 132061488], [132063770, 132063903], [132068763, 132068846], [132071563, 132071667], [132075529, 132075722]]
NM_001134194 [[132036210, 132036420], [132047110, 132047206], [132050490, 132050577], [132051035, 132051188], [132056299, 132056398], [132061395, 132061488], [132063770, 132063903], [132068763, 132068846], [132071563, 132071667], [132075529, 132075699], [132086547, 132087146]] [[132036300, 132036420], [132047110, 132047206], [132050490, 132050577], [132051035, 132051188], [132056299, 132056398], [132061395, 132061488], [132063770, 132063903], [132068763, 132068846], [132071563, 132071667], [132075529, 132075699], [132086547, 132086666]]
Promoter
Chrom Start End Description
chr3 132036207 132036218 CAGE_peak_3_at_ACPP_5end
chr3 132036224 132036235 CAGE_peak_4_at_ACPP_5end
chr3 132036243 132036268 CAGE_peak_1_at_ACPP_5end
chr3 132036271 132036287 CAGE_peak_2_at_ACPP_5end
chr3 132036297 132036304 CAGE_peak_7_at_ACPP_5end
chr3 132036352 132036365 CAGE_peak_6_at_ACPP_5end
chr3 132036369 132036382 CAGE_peak_5_at_ACPP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I132380 132380853 132383807 0.62 [{'connected_gene': 'ACAD11', 'score': 4.87}, {'connected_gene': 'ACPP', 'score': 4.39}, {'connected_gene': 'LOC100130550', 'score': 0.77}, {'connected_gene': 'GC03P132328', 'score': 0.23}]
chr3 GH03I132311 132311788 132311800 0.22 [{'connected_gene': 'UBA5', 'score': 3.96}, {'connected_gene': 'ACPP', 'score': 0.44}, {'connected_gene': 'CPNE4', 'score': 0.31}]
chr3 GH03I132376 132376801 132377200 0.49 [{'connected_gene': 'ACPP', 'score': 4.41}, {'connected_gene': 'ACAD11', 'score': 4.26}, {'connected_gene': 'LOC100130550', 'score': 0.44}, {'connected_gene': 'GC03P132328', 'score': 0.25}]
chr3 GH03I132316 132316353 132319088 1.81 [{'connected_gene': 'ACPP', 'score': 550.77}, {'connected_gene': 'ENSG00000261167', 'score': 10.04}, {'connected_gene': 'CPNE4', 'score': 5.5}, {'connected_gene': 'GC03P132328', 'score': 0.39}]
chr3 GH03I132290 132290601 132291201 0.69 [{'connected_gene': 'ACPP', 'score': 16.23}, {'connected_gene': 'CPNE4', 'score': 8.26}]
chr3 GH03I132289 132288914 132290417 0.2 [{'connected_gene': 'ACPP', 'score': 16.29}, {'connected_gene': 'CPNE4', 'score': 6.6}]
chr3 GH03I132346 132346537 132347675 0.77 [{'connected_gene': 'ACPP', 'score': 4.64}, {'connected_gene': 'GC03P132328', 'score': 0.37}, {'connected_gene': 'LOC100130550', 'score': 0.28}]
chr3 GH03I132342 132342801 132343353 0.63 [{'connected_gene': 'ACPP', 'score': 13.05}, {'connected_gene': 'GC03P132328', 'score': 0.39}, {'connected_gene': 'LOC100130550', 'score': 0.26}]
chr3 GH03I132319 132319401 132319600 0.2 [{'connected_gene': 'ACPP', 'score': 0.77}, {'connected_gene': 'GC03P132328', 'score': 0.44}]
chr3 GH03I132282 132282981 132286485 0.86 [{'connected_gene': 'CPNE4', 'score': 559.43}, {'connected_gene': 'ACPP', 'score': 4.48}, {'connected_gene': 'RPL7P16', 'score': 4.34}]
chr3 GH03I132288 132288537 132288686 0.31 [{'connected_gene': 'CPNE4', 'score': 0.77}, {'connected_gene': 'ACPP', 'score': 0.31}]
chr3 GH03I132352 132352657 132352846 0.68 [{'connected_gene': 'GC03P132328', 'score': 0.34}, {'connected_gene': 'LOC100130550', 'score': 0.29}, {'connected_gene': 'ACPP', 'score': 0.28}]

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