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
ENST00000429709 [[179280667, 179280905], [179287611, 179287688], [179287854, 179288029], [179291156, 179291257], [179292157, 179292255], [179294004, 179294099], [179294407, 179294514], [179294611, 179294701], [179298427, 179298489], [179298681, 179298796], [179298927, 179299008], [179301140, 179301236], [179304333, 179304420], [179305717, 179306196]] [[179280880, 179280905], [179287611, 179287688], [179287854, 179288029], [179291156, 179291257], [179292157, 179292255], [179294004, 179294099], [179294407, 179294514], [179294611, 179294701], [179298427, 179298489], [179298681, 179298796], [179298927, 179299008], [179301140, 179301236], [179304333, 179304420], [179305717, 179305798]]
ENST00000450518 [[179280673, 179280761], [179287611, 179287688], [179287854, 179288029], [179291156, 179291257], [179292157, 179292255], [179294004, 179294099], [179294407, 179294514], [179294611, 179294701], [179298427, 179298489], [179298681, 179298796], [179298927, 179299008], [179301140, 179301236], [179304333, 179304420], [179305717, 179306195]] [[179287878, 179288029], [179291156, 179291257], [179292157, 179292255], [179294004, 179294099], [179294407, 179294514], [179294611, 179294701], [179298427, 179298489], [179298681, 179298796], [179298927, 179299008], [179301140, 179301236], [179304333, 179304420], [179305717, 179305798]]
ENST00000392662 [[179280707, 179280953], [179287611, 179287688], [179287854, 179288029], [179291156, 179291257], [179292157, 179292255], [179294004, 179294099], [179294407, 179294514], [179294611, 179294701], [179298427, 179298489], [179298681, 179298796], [179298927, 179299008], [179301140, 179301236], [179304333, 179304420], [179305717, 179306186]] [[179287878, 179288029], [179291156, 179291257], [179292157, 179292255], [179294004, 179294099], [179294407, 179294514], [179294611, 179294701], [179298427, 179298489], [179298681, 179298796], [179298927, 179299008], [179301140, 179301236], [179304333, 179304420], [179305717, 179305798]]
ENST00000491202 [[179280710, 179280905], [179287611, 179287688], [179287854, 179288179]] None
ENST00000468767 [[179280710, 179280761], [179287611, 179287688], [179287854, 179288029], [179291156, 179291257], [179292157, 179292289], [179293190, 179293276]] None
ENST00000494843 [[179280717, 179280761], [179287611, 179287688], [179287854, 179288029], [179291156, 179291257], [179292157, 179292351]] None
ENST00000490364 [[179280746, 179280953], [179287611, 179287688], [179287854, 179288029]] [[179287878, 179288029]]
ENST00000487978 [[179287602, 179287688], [179287854, 179288029], [179291156, 179291257], [179292157, 179292255], [179293190, 179293292], [179294004, 179294099], [179294407, 179294514], [179294611, 179294701], [179298427, 179298489]] [[179287602, 179287688], [179287854, 179288029], [179291156, 179291257], [179292157, 179292255], [179293190, 179293215]]
ENST00000486471 [[179291021, 179291257], [179292157, 179292998]] None
ENST00000467383 [[179292140, 179292255], [179294004, 179294063]] None
ENST00000467615 [[179292797, 179293292], [179294004, 179294099], [179294407, 179294514], [179294611, 179294701], [179298427, 179298489], [179298681, 179298796]] None
ENST00000479056 [[179294163, 179294514], [179294611, 179294701], [179298427, 179298489], [179298681, 179298743]] None
ENST00000484312 [[179298951, 179299008], [179301140, 179301236], [179304333, 179304496]] None
ENST00000461125 [[179304275, 179304420], [179305717, 179306029]] None
NM_177989 [[179280667, 179280761], [179287611, 179287688], [179287854, 179288029], [179291156, 179291257], [179292157, 179292255], [179294004, 179294099], [179294407, 179294514], [179294611, 179294701], [179298427, 179298489], [179298681, 179298796], [179298927, 179299008], [179301140, 179301236], [179304333, 179304420], [179305717, 179306193]] [[179287878, 179288029], [179291156, 179291257], [179292157, 179292255], [179294004, 179294099], [179294407, 179294514], [179294611, 179294701], [179298427, 179298489], [179298681, 179298796], [179298927, 179299008], [179301140, 179301236], [179304333, 179304420], [179305717, 179305798]]
NM_004301 [[179280667, 179280905], [179287611, 179287688], [179287854, 179288029], [179291156, 179291257], [179292157, 179292255], [179294004, 179294099], [179294407, 179294514], [179294611, 179294701], [179298427, 179298489], [179298681, 179298796], [179298927, 179299008], [179301140, 179301236], [179304333, 179304420], [179305717, 179306193]] [[179280880, 179280905], [179287611, 179287688], [179287854, 179288029], [179291156, 179291257], [179292157, 179292255], [179294004, 179294099], [179294407, 179294514], [179294611, 179294701], [179298427, 179298489], [179298681, 179298796], [179298927, 179299008], [179301140, 179301236], [179304333, 179304420], [179305717, 179305798]]
NM_178042 [[179280667, 179280953], [179287611, 179287688], [179287854, 179288029], [179291156, 179291257], [179292157, 179292255], [179294004, 179294099], [179294407, 179294514], [179294611, 179294701], [179298427, 179298489], [179298681, 179298796], [179298927, 179299008], [179301140, 179301236], [179304333, 179304420], [179305717, 179306193]] [[179287878, 179288029], [179291156, 179291257], [179292157, 179292255], [179294004, 179294099], [179294407, 179294514], [179294611, 179294701], [179298427, 179298489], [179298681, 179298796], [179298927, 179299008], [179301140, 179301236], [179304333, 179304420], [179305717, 179305798]]
Promoter
Chrom Start End Description
chr3 179280702 179280769 CAGE_peak_1_at_ACTL6A_5end
chr3 179280840 179280845 CAGE_peak_3_at_ACTL6A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I179562 179562103 179564923 2.04 [{'connected_gene': 'ACTL6A', 'score': 561.64}, {'connected_gene': 'LOC105374238', 'score': 0.39}]
chr3 GH03I179603 179603388 179605805 2.03 [{'connected_gene': 'NDUFB5', 'score': 559.58}, {'connected_gene': 'MRPL47', 'score': 557.14}, {'connected_gene': 'TTC14', 'score': 12.09}, {'connected_gene': 'USP13', 'score': 10.94}, {'connected_gene': 'ACTL6A', 'score': 10.15}, {'connected_gene': 'MFN1', 'score': 10.07}, {'connected_gene': 'ENSG00000272660', 'score': 0.34}]
chr3 GH03I179546 179546813 179546962 0.63 [{'connected_gene': 'ENSG00000239255', 'score': 11.67}, {'connected_gene': 'GNB4', 'score': 11.67}, {'connected_gene': 'ACTL6A', 'score': 0.37}, {'connected_gene': 'PIR62273', 'score': 0.22}]
chr3 GH03I179550 179550580 179552243 0.2 [{'connected_gene': 'ENSG00000239255', 'score': 12.75}, {'connected_gene': 'GNB4', 'score': 12.75}, {'connected_gene': 'ACTL6A', 'score': 0.39}, {'connected_gene': 'PIR62273', 'score': 0.21}]
chr3 GH03I179525 179525792 179528060 0.92 [{'connected_gene': 'ENSG00000239255', 'score': 11.97}, {'connected_gene': 'GNB4', 'score': 11.97}, {'connected_gene': 'NDUFB5', 'score': 4.82}, {'connected_gene': 'ACTL6A', 'score': 0.28}, {'connected_gene': 'PIR62273', 'score': 0.28}]
chr3 GH03I179544 179544382 179546067 0.38 [{'connected_gene': 'ENSG00000239255', 'score': 11.67}, {'connected_gene': 'GNB4', 'score': 11.67}, {'connected_gene': 'NDUFB5', 'score': 5.54}, {'connected_gene': 'MRPL47', 'score': 5.41}, {'connected_gene': 'ACTL6A', 'score': 0.37}, {'connected_gene': 'PIR62273', 'score': 0.22}]

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