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
ENST00000510658 [[121647385, 121647477], [121726783, 121726886], [121739487, 121739560], [121767663, 121767777], [121776156, 121776211], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799649]] [[121726829, 121726886], [121739487, 121739560], [121767663, 121767734]]
ENST00000542191 [[121647385, 121647477], [121726783, 121726886], [121739487, 121739560], [121767663, 121767777], [121776156, 121776211], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799649]] [[121776353, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799191]]
ENST00000509154 [[121647463, 121647533], [121672482, 121672599], [121726783, 121726886], [121739487, 121739560], [121758562, 121759434], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296]] [[121726829, 121726886], [121739487, 121739560], [121758562, 121759434], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296]]
ENST00000261368 [[121647763, 121647979], [121726783, 121726886], [121739487, 121739560], [121758562, 121759434], [121761046, 121761226], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799914]] [[121726829, 121726886], [121739487, 121739560], [121758562, 121759434], [121761046, 121761226], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799191]]
ENST00000512385 [[121647819, 121647979], [121726783, 121726886], [121739487, 121739560], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121788619, 121788690], [121799185, 121799770]] [[121726829, 121726886], [121739487, 121739560], [121767663, 121767734]]
ENST00000379533 [[121647819, 121647979], [121726783, 121726886], [121736680, 121736821], [121739487, 121739560], [121758562, 121759434], [121761046, 121761226], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121788619, 121788690], [121799185, 121799794]] [[121726829, 121726886], [121736680, 121736821], [121739487, 121739560], [121758562, 121759434], [121761046, 121761226], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121788619, 121788690], [121799185, 121799270]]
ENST00000379536 [[121647819, 121647979], [121726783, 121726886], [121739487, 121739560], [121758562, 121759434], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799794]] [[121726829, 121726886], [121739487, 121739560], [121758562, 121759434], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799191]]
ENST00000379538 [[121647819, 121647979], [121726783, 121726886], [121739487, 121739560], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121788619, 121788690], [121799185, 121799794]] [[121726875, 121726886], [121739487, 121739560], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121788619, 121788690], [121799185, 121799270]]
ENST00000261367 [[121647901, 121647979], [121724261, 121725565], [121726783, 121726886], [121736680, 121736821], [121739487, 121739560], [121758562, 121759434], [121761046, 121761226], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121788619, 121788690], [121799185, 121799777]] [[121726829, 121726886], [121736680, 121736821], [121739487, 121739560], [121758562, 121759434], [121761046, 121761226], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121788619, 121788690], [121799185, 121799270]]
ENST00000510003 [[121647931, 121647979], [121726783, 121726886], [121739487, 121739560], [121758562, 121759434], [121761046, 121761226], [121767663, 121767777], [121776323, 121776972]] None
ENST00000414317 [[121647931, 121647979], [121726783, 121726886], [121739487, 121739560], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799475]] [[121726857, 121726886], [121739487, 121739560], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799191]]
ENST00000509023 [[121647931, 121647979], [121726783, 121726886], [121739487, 121739560], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799475]] [[121726829, 121726886], [121739487, 121739560], [121776323, 121776382]]
ENST00000508017 [[121647943, 121647979], [121726783, 121726886], [121739487, 121739560], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799811]] [[121726829, 121726886], [121739487, 121739560], [121767663, 121767734]]
ENST00000503116 [[121726829, 121726886], [121736680, 121736821], [121739487, 121739560], [121758562, 121759434], [121761046, 121761226], [121767663, 121767777], [121776323, 121776449], [121779265, 121779380], [121779780, 121779890], [121780257, 121780427], [121785539, 121785632], [121786227, 121787299]] [[121726829, 121726886], [121736680, 121736821], [121739487, 121739560], [121758562, 121759434], [121761046, 121761226], [121767663, 121767777], [121776323, 121776449], [121779265, 121779380], [121779780, 121779869]]
ENST00000504884 [[121726829, 121726886], [121739487, 121739560], [121761046, 121761226], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787299]] [[121726829, 121726886], [121739487, 121739560], [121761046, 121761183]]
ENST00000512146 [[121726829, 121726886], [121736680, 121736821], [121739487, 121739560], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799191]] [[121726829, 121726886], [121736680, 121736821], [121739487, 121739560], [121767663, 121767734]]
ENST00000395469 [[121726829, 121726886], [121736680, 121736821], [121739487, 121739560], [121758562, 121759434], [121761046, 121761226], [121767663, 121767777], [121776323, 121776449], [121779265, 121779380], [121779780, 121779890], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799191]] [[121726829, 121726886], [121736680, 121736821], [121739487, 121739560], [121758562, 121759434], [121761046, 121761226], [121767663, 121767777], [121776323, 121776449], [121779265, 121779380], [121779780, 121779869]]
ENST00000395466 [[121726829, 121726886], [121739487, 121739560], [121761046, 121761226], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799191]] [[121726829, 121726886], [121739487, 121739560], [121761046, 121761183]]
ENST00000515215 [[121726829, 121726886], [121739487, 121739560], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799191]] [[121726829, 121726886], [121739487, 121739560], [121767663, 121767734]]
ENST00000514467 [[121647048, 121647320], [121726783, 121726886], [121739487, 121739560], [121758562, 121758837]] [[121726829, 121726886], [121739487, 121739560], [121758562, 121758837]]
ENST00000506272 [[121647434, 121647492], [121726783, 121726886], [121736680, 121736821], [121739487, 121739560], [121758562, 121758773]] [[121726829, 121726886], [121736680, 121736821], [121739487, 121739560], [121758562, 121758773]]
ENST00000508681 [[121647454, 121647533], [121726783, 121726886], [121739487, 121739560], [121758562, 121758727]] [[121726829, 121726886], [121739487, 121739560], [121758562, 121758727]]
ENST00000514497 [[121647877, 121647979], [121672482, 121672599], [121726783, 121726886], [121736680, 121736821], [121739487, 121739492]] [[121726829, 121726886], [121736680, 121736821], [121739487, 121739492]]
ENST00000509652 [[121648261, 121648615], [121672482, 121672599], [121726783, 121726871]] [[121726829, 121726871]]
ENST00000513719 [[121779850, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799749]] None
NR_131762 [[121647385, 121647477], [121726783, 121726886], [121739487, 121739560], [121767663, 121767777], [121776156, 121776211], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799914]] None
NM_001308109 [[121647763, 121647979], [121726783, 121726886], [121739487, 121739560], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799914]] [[121726875, 121726886], [121739487, 121739560], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799191]]
NM_001308107 [[121647763, 121647979], [121726783, 121726886], [121739487, 121739560], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799914]] [[121726875, 121726886], [121739487, 121739560], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799191]]
NM_001242935 [[121647763, 121647979], [121726783, 121726886], [121739487, 121739560], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121788619, 121788690], [121799185, 121799914]] [[121726875, 121726886], [121739487, 121739560], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121788619, 121788690], [121799185, 121799270]]
NM_005460 [[121647763, 121647979], [121726783, 121726886], [121739487, 121739560], [121758562, 121759434], [121761046, 121761226], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799914]] [[121726829, 121726886], [121739487, 121739560], [121758562, 121759434], [121761046, 121761226], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799191]]
NM_001308100 [[121647763, 121647979], [121724261, 121725565], [121726783, 121726886], [121736680, 121736821], [121739487, 121739560], [121758562, 121759434], [121761046, 121761226], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121788619, 121788690], [121799185, 121799914]] [[121726829, 121726886], [121736680, 121736821], [121739487, 121739560], [121758562, 121759434], [121761046, 121761226], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121788619, 121788690], [121799185, 121799270]]
NM_001308108 [[121726783, 121726886], [121739487, 121739560], [121761046, 121761226], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799914]] [[121726875, 121726886], [121739487, 121739560], [121761046, 121761226], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799191]]
NM_001308105 [[121726783, 121726886], [121739487, 121739560], [121758562, 121759434], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799914]] [[121726829, 121726886], [121739487, 121739560], [121758562, 121759434], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799191]]
NM_001308106 [[121726783, 121726886], [121736680, 121736821], [121739487, 121739560], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799914]] [[121736816, 121736821], [121739487, 121739560], [121767663, 121767777], [121776323, 121776449], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799191]]
NR_131761 [[121726783, 121726886], [121736680, 121736821], [121739487, 121739560], [121758562, 121759434], [121761046, 121761226], [121767663, 121767777], [121776323, 121776449], [121779265, 121779380], [121779780, 121779890], [121780257, 121780427], [121785539, 121785632], [121786227, 121787296], [121799185, 121799914]] None
Promoter
Chrom Start End Description
chr5 121647446 121647460 CAGE_peak_4_at_SNCAIP_5end
chr5 121647591 121647609 CAGE_peak_7_at_SNCAIP_5end
chr5 121647859 121647876 CAGE_peak_3_at_SNCAIP_5end
chr5 121647877 121647913 CAGE_peak_1_at_SNCAIP_5end
chr5 121647924 121647940 CAGE_peak_2_at_SNCAIP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I122348 122348345 122348404 0.5 [{'connected_gene': 'SNCAIP', 'score': 550.28}, {'connected_gene': 'ENSG00000249621', 'score': 0.31}, {'connected_gene': 'ENSG00000249916', 'score': 0.28}]
chr5 GH05I122311 122311001 122313569 1.83 [{'connected_gene': 'SNCAIP', 'score': 557.78}, {'connected_gene': 'ENSG00000272139', 'score': 550.77}, {'connected_gene': 'ENSG00000249621', 'score': 0.39}]
chr5 GH05I122351 122351565 122351898 0.54 [{'connected_gene': 'SNX2', 'score': 12.76}, {'connected_gene': 'LOX', 'score': 11.17}, {'connected_gene': 'SRFBP1', 'score': 11.11}, {'connected_gene': 'ENSG00000249621', 'score': 0.31}, {'connected_gene': 'ENSG00000249916', 'score': 0.29}, {'connected_gene': 'SNCAIP', 'score': 0.26}]
chr5 GH05I122696 122696553 122697569 1.25 [{'connected_gene': 'CEP120', 'score': 99.76}, {'connected_gene': 'CSNK1G3', 'score': 58.15}, {'connected_gene': 'SNX2', 'score': 53.91}, {'connected_gene': 'ENSG00000260686', 'score': 41.7}, {'connected_gene': 'ZNF474', 'score': 39.63}, {'connected_gene': 'KRT8P33', 'score': 30.47}, {'connected_gene': 'SRFBP1', 'score': 21.97}, {'connected_gene': 'LOX', 'score': 21.21}, {'connected_gene': 'SNCAIP', 'score': 13.6}, {'connected_gene': 'RN7SL689P', 'score': 9.81}, {'connected_gene': 'PRDM6', 'score': 7.43}, {'connected_gene': 'ARGFXP1', 'score': 0.34}, {'connected_gene': 'GC05M122721', 'score': 0.31}, {'connected_gene': 'LINC02201', 'score': 0.29}]
chr5 GH05I122484 122484566 122487180 0.38 [{'connected_gene': 'MGC32805', 'score': 21.57}, {'connected_gene': 'SNCAIP', 'score': 6.13}, {'connected_gene': 'GC05M122494', 'score': 0.44}]
chr5 GH05I122429 122429503 122430735 0.62 [{'connected_gene': 'MGC32805', 'score': 19.95}, {'connected_gene': 'CEP120', 'score': 11.84}, {'connected_gene': 'GC05P122385', 'score': 0.26}, {'connected_gene': 'SNCAIP', 'score': 0.13}]
chr5 GH05I122332 122332626 122334063 0.83 [{'connected_gene': 'ENSG00000260686', 'score': 17.73}, {'connected_gene': 'SNX2', 'score': 12.75}, {'connected_gene': 'LOX', 'score': 11.18}, {'connected_gene': 'SRFBP1', 'score': 11.11}, {'connected_gene': 'ENSG00000249621', 'score': 0.44}, {'connected_gene': 'SNCAIP', 'score': 0.34}, {'connected_gene': 'ENSG00000249916', 'score': 0.23}]
chr5 GH05I122415 122415606 122415755 0.59 [{'connected_gene': 'ENSG00000249916', 'score': 11.86}, {'connected_gene': 'GC05P122385', 'score': 0.29}, {'connected_gene': 'MGC32805', 'score': 0.21}, {'connected_gene': 'SNCAIP', 'score': 0.15}]
chr5 GH05I122423 122423945 122424544 0.38 [{'connected_gene': 'GC05P122385', 'score': 0.28}, {'connected_gene': 'MGC32805', 'score': 0.23}, {'connected_gene': 'SNCAIP', 'score': 0.14}]

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