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
ENST00000288861 [[26804069, 26804261], [26805692, 26805781], [26806656, 26806766], [26818043, 26818185], [26852277, 26852374], [26863400, 26863435], [26864128, 26864236]] [[26804230, 26804261], [26805692, 26805781], [26806656, 26806766], [26818043, 26818185], [26852277, 26852374], [26863400, 26863435], [26864128, 26864182]]
ENST00000403670 [[26804074, 26804261], [26805692, 26805781], [26806656, 26806766], [26818043, 26818185], [26828369, 26828431]] None
ENST00000405346 [[26804207, 26804261], [26805692, 26805781], [26806656, 26806766], [26818043, 26818185], [26846281, 26846495]] None
NM_001029881 [[26804069, 26804261], [26805692, 26805781], [26806656, 26806766], [26818043, 26818185], [26852277, 26852374], [26863400, 26863435], [26864128, 26864236]] [[26804230, 26804261], [26805692, 26805781], [26806656, 26806766], [26818043, 26818185], [26852277, 26852374], [26863400, 26863435], [26864128, 26864182]]
Promoter
Chrom Start End Description
chr2 26864209 26864225 CAGE_peak_1_at_CIB4_5end
chr2 26864228 26864237 CAGE_peak_2_at_CIB4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I026648 26648983 26654360 0.72 [{'connected_gene': 'CAD', 'score': 22.43}, {'connected_gene': 'LOC105374363', 'score': 15.32}, {'connected_gene': 'ZNF513', 'score': 15.2}, {'connected_gene': 'EIF2B4', 'score': 12.03}, {'connected_gene': 'GTF3C2-AS1', 'score': 11.96}, {'connected_gene': 'GTF3C2', 'score': 11.56}, {'connected_gene': 'KCNK3', 'score': 11.44}, {'connected_gene': 'ZNF512', 'score': 11.17}, {'connected_gene': 'IFT172', 'score': 10.88}, {'connected_gene': 'DPYSL5', 'score': 10.21}, {'connected_gene': 'ENSG00000235267', 'score': 9.71}, {'connected_gene': 'GC02P026658', 'score': 0.44}, {'connected_gene': 'CIB4', 'score': 0.39}]
chr2 GH02I026655 26655933 26656062 0.2 [{'connected_gene': 'KCNK3', 'score': 11.46}, {'connected_gene': 'DPYSL5', 'score': 9.47}, {'connected_gene': 'GC02P026658', 'score': 0.77}, {'connected_gene': 'CIB4', 'score': 0.39}]
chr2 GH02I026691 26691436 26693001 1.84 [{'connected_gene': 'KCNK3', 'score': 550.77}, {'connected_gene': 'CIB4', 'score': 5.67}, {'connected_gene': 'RPL37P11', 'score': 0.39}]
chr2 GH02I026612 26612131 26617461 0.84 [{'connected_gene': 'C2orf70', 'score': 4.73}, {'connected_gene': 'GC02P026627', 'score': 0.39}, {'connected_gene': 'CIB4', 'score': 0.31}]
chr2 GH02I026577 26577953 26578062 0.68 [{'connected_gene': 'C2orf70', 'score': 0.37}, {'connected_gene': 'GC02P026627', 'score': 0.25}, {'connected_gene': 'CIB4', 'score': 0.21}]
chr2 GH02I026689 26689621 26690150 0.2 [{'connected_gene': 'CIB4', 'score': 10.35}, {'connected_gene': 'DPYSL5', 'score': 9.09}, {'connected_gene': 'KCNK3', 'score': 0.77}, {'connected_gene': 'RPL37P11', 'score': 0.39}, {'connected_gene': 'GC02P026658', 'score': 0.29}]
chr2 GH02I026685 26685088 26688896 0.56 [{'connected_gene': 'CIB4', 'score': 15.93}, {'connected_gene': 'DPYSL5', 'score': 9.56}, {'connected_gene': 'MAPRE3', 'score': 9.53}, {'connected_gene': 'RPL37P11', 'score': 0.44}, {'connected_gene': 'KCNK3', 'score': 0.44}, {'connected_gene': 'GC02P026658', 'score': 0.31}]
chr2 GH02I026639 26639725 26641402 1.09 [{'connected_gene': 'CIB4', 'score': 550.77}, {'connected_gene': 'DPYSL5', 'score': 10.05}, {'connected_gene': 'GC02P026627', 'score': 0.39}]
chr2 GH02I026708 26708868 26711050 0.58 [{'connected_gene': 'CIB4', 'score': 6.13}, {'connected_gene': 'ENSG00000225378', 'score': 4.52}, {'connected_gene': 'GC02P026705', 'score': 0.77}, {'connected_gene': 'KCNK3', 'score': 0.37}, {'connected_gene': 'SLC35F6', 'score': 0.23}]
chr2 GH02I026609 26609202 26611027 0.57 [{'connected_gene': 'CIB4', 'score': 11.78}, {'connected_gene': 'KCNK3', 'score': 11.65}, {'connected_gene': 'C2orf70', 'score': 4.13}, {'connected_gene': 'GC02P026627', 'score': 0.37}]
chr2 GH02I026693 26693948 26698412 0.8 [{'connected_gene': 'CIB4', 'score': 5.75}, {'connected_gene': 'ENSG00000225378', 'score': 4.59}, {'connected_gene': 'KCNK3', 'score': 0.77}, {'connected_gene': 'GC02P026705', 'score': 0.44}]
chr2 GH02I026699 26699154 26701863 0.52 [{'connected_gene': 'CIB4', 'score': 5.74}, {'connected_gene': 'GC02P026705', 'score': 0.44}, {'connected_gene': 'KCNK3', 'score': 0.44}]
chr2 GH02I026647 26647709 26647719 0.2 [{'connected_gene': 'CIB4', 'score': 0.44}, {'connected_gene': 'GC02P026658', 'score': 0.39}]
chr2 GH02I026703 26703973 26708343 0.79 [{'connected_gene': 'GC02P026705', 'score': 550.77}, {'connected_gene': 'CIB4', 'score': 6.18}, {'connected_gene': 'KCNK3', 'score': 0.39}, {'connected_gene': 'SLC35F6', 'score': 0.22}]
chr2 GH02I026619 26619401 26619800 0.31 [{'connected_gene': 'GC02P026627', 'score': 0.44}, {'connected_gene': 'CIB4', 'score': 0.34}, {'connected_gene': 'C2orf70', 'score': 0.22}]
chr2 GH02I026605 26605533 26608183 0.85 [{'connected_gene': 'GC02P026627', 'score': 0.34}, {'connected_gene': 'CIB4', 'score': 0.29}, {'connected_gene': 'C2orf70', 'score': 0.26}]
chr2 GH02I026608 26608578 26608819 0.2 [{'connected_gene': 'GC02P026627', 'score': 0.37}, {'connected_gene': 'CIB4', 'score': 0.29}, {'connected_gene': 'C2orf70', 'score': 0.25}]
chr2 GH02I026631 26631053 26631202 0.69 [{'connected_gene': 'GC02P026627', 'score': 0.77}, {'connected_gene': 'CIB4', 'score': 0.39}]

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