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
ENST00000394329 [[126237553, 126242741], [126319938, 126320070], [126328034, 126328296], [126329598, 126329949], [126336038, 126336961], [126337602, 126337777], [126355399, 126355580], [126367453, 126367698], [126369615, 126373965], [126384717, 126384822], [126389666, 126389974], [126397325, 126397411], [126398309, 126398489], [126400895, 126401020], [126402675, 126402893], [126408499, 126408761], [126411055, 126414087]] [[126237566, 126242741], [126319938, 126320070], [126328034, 126328296], [126329598, 126329949], [126336038, 126336961], [126337602, 126337777], [126355399, 126355580], [126367453, 126367698], [126369615, 126373965], [126384717, 126384822], [126389666, 126389974], [126397325, 126397411], [126398309, 126398489], [126400895, 126401020], [126402675, 126402893], [126408499, 126408761], [126411055, 126412923]]
ENST00000335110 [[126315090, 126315159], [126319938, 126320070], [126328034, 126328296], [126329598, 126329949], [126336038, 126336961], [126337602, 126337777], [126355399, 126355580], [126367453, 126367698], [126369615, 126373965], [126389666, 126389974], [126397325, 126397411], [126398309, 126398548], [126402675, 126402893], [126408499, 126408761], [126411055, 126412923]] [[126315090, 126315159], [126319938, 126320070], [126328034, 126328296], [126329598, 126329949], [126336038, 126336961], [126337602, 126337777], [126355399, 126355580], [126367453, 126367698], [126369615, 126373965], [126389666, 126389974], [126397325, 126397411], [126398309, 126398548], [126402675, 126402893], [126408499, 126408761], [126411055, 126412923]]
ENST00000509444 [[126367265, 126367698], [126369615, 126369733]] None
NM_024582 [[126237566, 126242741], [126319938, 126320070], [126328034, 126328296], [126329598, 126329949], [126336038, 126336961], [126337602, 126337777], [126355399, 126355580], [126367453, 126367698], [126369615, 126373965], [126384717, 126384822], [126389666, 126389974], [126397325, 126397411], [126398309, 126398489], [126400895, 126401020], [126402675, 126402893], [126408499, 126408761], [126411055, 126414087]] [[126237566, 126242741], [126319938, 126320070], [126328034, 126328296], [126329598, 126329949], [126336038, 126336961], [126337602, 126337777], [126355399, 126355580], [126367453, 126367698], [126369615, 126373965], [126384717, 126384822], [126389666, 126389974], [126397325, 126397411], [126398309, 126398489], [126400895, 126401020], [126402675, 126402893], [126408499, 126408761], [126411055, 126412923]]
NM_001291285 [[126237566, 126242741], [126319938, 126320070], [126328034, 126328296], [126329598, 126329949], [126336038, 126336961], [126337602, 126337777], [126355399, 126355580], [126367447, 126367698], [126369615, 126373965], [126384717, 126384822], [126389666, 126389974], [126397325, 126397411], [126398309, 126398489], [126400895, 126401020], [126402675, 126402893], [126408499, 126408761], [126411058, 126414087]] [[126237566, 126242741], [126319938, 126320070], [126328034, 126328296], [126329598, 126329949], [126336038, 126336961], [126337602, 126337777], [126355399, 126355580], [126367447, 126367698], [126369615, 126373965], [126384717, 126384822], [126389666, 126389974], [126397325, 126397411], [126398309, 126398489], [126400895, 126401020], [126402675, 126402893], [126408499, 126408761], [126411058, 126412923]]
NM_001291303 [[126237566, 126242741], [126319938, 126320070], [126328034, 126328296], [126329598, 126329949], [126336038, 126336961], [126337602, 126337777], [126355399, 126355580], [126367447, 126367698], [126369615, 126373965], [126384717, 126384822], [126389666, 126389974], [126397325, 126397411], [126398309, 126398489], [126400895, 126401020], [126402675, 126402893], [126408499, 126408761], [126411055, 126414087]] [[126237566, 126242741], [126319938, 126320070], [126328034, 126328296], [126329598, 126329949], [126336038, 126336961], [126337602, 126337777], [126355399, 126355580], [126367447, 126367698], [126369615, 126373965], [126384717, 126384822], [126389666, 126389974], [126397325, 126397411], [126398309, 126398489], [126400895, 126401020], [126402675, 126402893], [126408499, 126408761], [126411055, 126412923]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I125387 125387986 125391235 0.77 [{'connected_gene': 'FAT4', 'score': 11.13}, {'connected_gene': 'GC04P125393', 'score': 0.77}, {'connected_gene': 'ENSG00000201297', 'score': 0.31}]
chr4 GH04I125314 125313546 125313715 0.74 [{'connected_gene': 'FAT4', 'score': 0.77}, {'connected_gene': 'GC04P125141', 'score': 0.09}]
chr4 GH04I125268 125268406 125268555 0.2 [{'connected_gene': 'FAT4', 'score': 0.25}, {'connected_gene': 'GC04P125141', 'score': 0.13}]
chr4 GH04I125313 125313749 125318613 1.5 [{'connected_gene': 'FAT4', 'score': 550.77}, {'connected_gene': 'GC04P125363', 'score': 0.25}]
chr4 GH04I125321 125321801 125323400 0.74 [{'connected_gene': 'FAT4', 'score': 0.44}, {'connected_gene': 'GC04P125363', 'score': 0.26}]
chr4 GH04I125323 125323504 125324637 0.84 [{'connected_gene': 'FAT4', 'score': 0.44}, {'connected_gene': 'GC04P125363', 'score': 0.28}]
chr4 GH04I125267 125267699 125267843 0.2 [{'connected_gene': 'FAT4', 'score': 0.25}, {'connected_gene': 'GC04P125141', 'score': 0.13}]
chr4 GH04I125266 125266356 125267615 0.4 [{'connected_gene': 'FAT4', 'score': 0.25}, {'connected_gene': 'GC04P125141', 'score': 0.13}]
chr4 GH04I125269 125268226 125268375 0.2 [{'connected_gene': 'FAT4', 'score': 0.25}, {'connected_gene': 'GC04P125141', 'score': 0.13}]
chr4 GH04I125186 125186666 125188191 0.31 [{'connected_gene': 'GC04P125141', 'score': 0.25}, {'connected_gene': 'FAT4', 'score': 0.13}]
chr4 GH04I125357 125357692 125357895 0.46 [{'connected_gene': 'GC04P125363', 'score': 0.44}, {'connected_gene': 'FAT4', 'score': 0.26}]
chr4 GH04I125367 125367718 125369505 0.63 [{'connected_gene': 'ENSG00000201297', 'score': 0.44}, {'connected_gene': 'GC04P125393', 'score': 0.34}, {'connected_gene': 'FAT4', 'score': 0.23}]
chr4 GH04I125198 125198708 125199655 0.46 [{'connected_gene': 'GC04P125141', 'score': 0.22}, {'connected_gene': 'FAT4', 'score': 0.13}]
chr4 GH04I125191 125191346 125191555 0.38 [{'connected_gene': 'GC04P125141', 'score': 0.25}, {'connected_gene': 'FAT4', 'score': 0.13}]
chr4 GH04I125433 125433425 125434480 0.31 [{'connected_gene': 'GC04P125393', 'score': 0.26}, {'connected_gene': 'MIR2054', 'score': 0.19}, {'connected_gene': 'FAT4', 'score': 0.13}]

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