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
ENST00000506796 [[70676497, 70676585], [70704165, 70704290], [70707148, 70707264], [70707707, 70707824], [70709878, 70710059], [70713415, 70713504]] [[70707711, 70707824], [70709878, 70710059], [70713415, 70713504]]
ENST00000226444 [[70706929, 70707824], [70709878, 70710059], [70713415, 70713510], [70715154, 70715281], [70719934, 70720032], [70721018, 70721144], [70723217, 70723371], [70725766, 70725870]] [[70707711, 70707824], [70709878, 70710059], [70713415, 70713510], [70715154, 70715281], [70719934, 70720032], [70721018, 70721144], [70723217, 70723362]]
ENST00000504002 [[70714843, 70715281], [70719934, 70720032], [70721018, 70721144], [70723217, 70723371], [70725766, 70725863]] None
NM_005420 [[70706929, 70707824], [70709878, 70710059], [70713415, 70713510], [70715154, 70715281], [70719934, 70720032], [70721018, 70721144], [70723217, 70723371], [70725766, 70725870]] [[70707711, 70707824], [70709878, 70710059], [70713415, 70713510], [70715154, 70715281], [70719934, 70720032], [70721018, 70721144], [70723217, 70723362]]
Promoter
Chrom Start End Description
chr4 70725856 70725871 CAGE_peak_1_at_SULT1E1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I069718 69718380 69719792 0.79 [{'connected_gene': 'SULT1E1', 'score': 11.75}, {'connected_gene': 'SULT1B1', 'score': 8.87}, {'connected_gene': 'CSN1S1', 'score': 6.87}, {'connected_gene': 'GC04P069761', 'score': 0.26}, {'connected_gene': 'UGT2A1', 'score': 0.2}]
chr4 GH04I069857 69857080 69861336 1.34 [{'connected_gene': 'SULT1E1', 'score': 550.77}, {'connected_gene': 'CSN1S1', 'score': 9.44}, {'connected_gene': 'SULT1B1', 'score': 8.33}, {'connected_gene': 'ENSG00000284695', 'score': 0.39}]
chr4 GH04I069874 69874643 69874792 0.2 [{'connected_gene': 'SULT1E1', 'score': 0.39}, {'connected_gene': 'ENSG00000251489', 'score': 0.39}]
chr4 GH04I070180 70180320 70186260 0.89 [{'connected_gene': 'PRR27', 'score': 11.32}, {'connected_gene': 'STATH', 'score': 9.9}, {'connected_gene': 'ODAM', 'score': 5.76}, {'connected_gene': 'SULT1E1', 'score': 4.9}, {'connected_gene': 'LOC105377270', 'score': 0.77}]
chr4 GH04I069829 69829578 69834781 1.65 [{'connected_gene': 'SULT1B1', 'score': 23.31}, {'connected_gene': 'SULT1E1', 'score': 12.19}, {'connected_gene': 'CSN1S1', 'score': 8.76}, {'connected_gene': 'UGT2A2', 'score': 1.83}, {'connected_gene': 'GC04M069835', 'score': 0.77}, {'connected_gene': 'ENSG00000284695', 'score': 0.37}, {'connected_gene': 'SULT1D1P', 'score': 0.37}]
chr4 GH04I069730 69730353 69733005 0.2 [{'connected_gene': 'SULT1B1', 'score': 16.68}, {'connected_gene': 'SULT1E1', 'score': 11.02}, {'connected_gene': 'CSN1S1', 'score': 8.2}, {'connected_gene': 'GC04P069761', 'score': 0.29}, {'connected_gene': 'UGT2A1', 'score': 0.18}]
chr4 GH04I069772 69772513 69777376 0.63 [{'connected_gene': 'SULT1B1', 'score': 8.83}, {'connected_gene': 'SULT1E1', 'score': 7.67}, {'connected_gene': 'CSN1S1', 'score': 6.06}, {'connected_gene': 'GC04P069761', 'score': 0.39}]
chr4 GH04I069749 69749801 69750200 0.56 [{'connected_gene': 'SULT1B1', 'score': 8.71}, {'connected_gene': 'SULT1E1', 'score': 7.7}, {'connected_gene': 'GC04P069761', 'score': 0.39}, {'connected_gene': 'UGT2A1', 'score': 0.15}]
chr4 GH04I069836 69836443 69836592 0.58 [{'connected_gene': 'GC04M069835', 'score': 550.77}, {'connected_gene': 'SULT1E1', 'score': 11.93}, {'connected_gene': 'ENSG00000284695', 'score': 0.39}, {'connected_gene': 'SULT1D1P', 'score': 0.34}]
chr4 GH04I069875 69875138 69877376 0.63 [{'connected_gene': 'ENSG00000251489', 'score': 0.39}, {'connected_gene': 'SULT1E1', 'score': 0.37}]

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