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
ENST00000226355 [[74347399, 74347580], [74349657, 74349706], [74349974, 74350107], [74351578, 74351790], [74352683, 74352816], [74353440, 74353538], [74354346, 74354476], [74357588, 74357803], [74361016, 74361149], [74363368, 74363466], [74364830, 74364963], [74365720, 74365944], [74367503, 74367636], [74368766, 74368827], [74369592, 74369691]] [[74347492, 74347580], [74349657, 74349706], [74349974, 74350107], [74351578, 74351790], [74352683, 74352816], [74353440, 74353538], [74354346, 74354476], [74357588, 74357803], [74361016, 74361149], [74363368, 74363466], [74364830, 74364963], [74365720, 74365944], [74367503, 74367636], [74368766, 74368787]]
ENST00000505794 [[74360831, 74361149], [74363368, 74363466]] None
NM_001133 [[74347461, 74347580], [74349657, 74349706], [74349974, 74350107], [74351578, 74351790], [74352683, 74352816], [74353440, 74353538], [74354346, 74354476], [74357588, 74357803], [74361016, 74361149], [74363368, 74363466], [74364830, 74364963], [74365720, 74365944], [74367503, 74367636], [74368766, 74368827], [74369592, 74369718]] [[74347492, 74347580], [74349657, 74349706], [74349974, 74350107], [74351578, 74351790], [74352683, 74352816], [74353440, 74353538], [74354346, 74354476], [74357588, 74357803], [74361016, 74361149], [74363368, 74363466], [74364830, 74364963], [74365720, 74365944], [74367503, 74367636], [74368766, 74368787]]
Promoter
Chrom Start End Description
chr4 74347454 74347479 CAGE_peak_1_at_AFM_5end
chr4 74347539 74347542 CAGE_peak_2_at_AFM_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I073431 73431539 73434274 0.94 [{'connected_gene': 'AFP', 'score': 12.82}, {'connected_gene': 'AFM', 'score': 0.25}]
chr4 GH04I073436 73436170 73436229 1 [{'connected_gene': 'AFP', 'score': 550.39}, {'connected_gene': 'AFM', 'score': 0.25}]
chr4 GH04I073449 73449944 73455409 1.03 [{'connected_gene': 'AFP', 'score': 20.5}, {'connected_gene': 'AFM', 'score': 11.76}]
chr4 GH04I073189 73189387 73189425 0.44 [{'connected_gene': 'ANKRD17', 'score': 12.42}, {'connected_gene': 'ENSG00000250220', 'score': 10.58}, {'connected_gene': 'ENSG00000221639', 'score': 10.57}, {'connected_gene': 'AFM', 'score': 1.71}, {'connected_gene': 'ALB', 'score': 1.48}, {'connected_gene': 'GC04P073141', 'score': 0.25}, {'connected_gene': 'LOC102724832', 'score': 0.2}]
chr4 GH04I073481 73481696 73481755 0.92 [{'connected_gene': 'AFM', 'score': 550.77}, {'connected_gene': 'LINC02499', 'score': 0.31}]
chr4 GH04I073527 73527819 73527822 0.22 [{'connected_gene': 'AFM', 'score': 6.04}, {'connected_gene': 'ALB', 'score': 4.53}, {'connected_gene': 'LINC02499', 'score': 0.37}, {'connected_gene': 'ENSG00000249970', 'score': 0.37}]