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
ENST00000361084 [[156030950, 156031234], [156035701, 156035897], [156038060, 156038254], [156039461, 156039542], [156039950, 156040295]] [[156031191, 156031234], [156035701, 156035897], [156038060, 156038254], [156039461, 156039542], [156039950, 156040078]]
ENST00000463614 [[156030979, 156031234], [156035701, 156036073]] None
ENST00000487325 [[156030996, 156031234], [156038060, 156038254], [156039461, 156039897]] None
ENST00000473336 [[156031173, 156031234], [156038060, 156038254], [156039461, 156039542], [156039950, 156040295]] None
ENST00000497968 [[156038002, 156038254], [156039461, 156039542], [156039950, 156040156]] None
NR_133653 [[156030939, 156031234], [156038060, 156038254], [156039461, 156039542], [156039950, 156040305]] None
NM_020387 [[156030939, 156031234], [156035701, 156035897], [156038060, 156038254], [156039461, 156039542], [156039950, 156040305]] [[156031191, 156031234], [156035701, 156035897], [156038060, 156038254], [156039461, 156039542], [156039950, 156040078]]
Promoter
Chrom Start End Description
chr1 156030937 156030983 CAGE_peak_1_at_RAB25_5end
chr1 156030987 156031007 CAGE_peak_2_at_RAB25_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I156060 156060497 156062871 1.77 [{'connected_gene': 'RAB25', 'score': 550.77}, {'connected_gene': 'GBA', 'score': 4.53}, {'connected_gene': 'PIR47543', 'score': 0.77}, {'connected_gene': 'GC01P156042', 'score': 0.37}]
chr1 GH01I156069 156069522 156071029 0.7 [{'connected_gene': 'GBA', 'score': 5.31}, {'connected_gene': 'RAB25', 'score': 0.44}, {'connected_gene': 'PIR47543', 'score': 0.44}, {'connected_gene': 'MEX3A', 'score': 0.39}]
chr1 GH01I156063 156063490 156063639 0.56 [{'connected_gene': 'PIR47543', 'score': 550.77}, {'connected_gene': 'RAB25', 'score': 0.77}]
chr1 GH01I156066 156066001 156066800 0.9 [{'connected_gene': 'PIR47543', 'score': 550.77}, {'connected_gene': 'KHDC4', 'score': 11.21}, {'connected_gene': 'RXFP4', 'score': 10.95}, {'connected_gene': 'TSACC', 'score': 9.63}, {'connected_gene': 'CCT3', 'score': 9.62}, {'connected_gene': 'RAB25', 'score': 0.44}, {'connected_gene': 'MEX3A', 'score': 0.37}]

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