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
ENST00000278855 [[59807747, 59807996], [59810941, 59811120], [59812143, 59812247], [59814416, 59815517]] [[59807932, 59807996], [59810941, 59811120], [59812143, 59812247], [59814416, 59814546]]
ENST00000527395 [[59807932, 59807996], [59810941, 59811206]] None
ENST00000532905 [[59807961, 59807996], [59810941, 59811120], [59812143, 59812247], [59814186, 59814364]] [[59810970, 59811120], [59812143, 59812247], [59814186, 59814193]]
NM_173801 [[59807747, 59807996], [59810941, 59811120], [59812143, 59812247], [59814416, 59815517]] [[59807932, 59807996], [59810941, 59811120], [59812143, 59812247], [59814416, 59814546]]
Promoter
Chrom Start End Description
chr11 59807876 59807897 CAGE_peak_1_at_PLAC1L_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I060055 60055401 60055800 0.2 [{'connected_gene': 'MS4A3', 'score': 550.77}, {'connected_gene': 'OOSP2', 'score': 0.37}]
chr11 GH11I059919 59919001 59919400 0.87 [{'connected_gene': 'TCN1', 'score': 11.41}, {'connected_gene': 'GIF', 'score': 11.38}, {'connected_gene': 'OOSP2', 'score': 10.11}, {'connected_gene': 'MS4A2', 'score': 9.7}, {'connected_gene': 'OOSP1', 'score': 0.37}, {'connected_gene': 'SRD5A3P1', 'score': 0.34}]
chr11 GH11I060204 60204061 60207503 0.76 [{'connected_gene': 'TCN1', 'score': 10.44}, {'connected_gene': 'OOSP2', 'score': 10.24}, {'connected_gene': 'MS4A6A', 'score': 6.96}, {'connected_gene': 'MS4A4E', 'score': 5.21}, {'connected_gene': 'MS4A4A', 'score': 5.17}, {'connected_gene': 'MIR6503', 'score': 0.77}]
chr11 GH11I060336 60336488 60338094 0.84 [{'connected_gene': 'MS4A6E', 'score': 11.05}, {'connected_gene': 'MS4A5', 'score': 9.25}, {'connected_gene': 'MS4A14', 'score': 5.52}, {'connected_gene': 'MS4A13', 'score': 5.25}, {'connected_gene': 'OOSP2', 'score': 4.91}, {'connected_gene': 'GC11P060374', 'score': 0.28}]
chr11 GH11I060251 60251378 60252600 0.83 [{'connected_gene': 'MS4A6E', 'score': 11.16}, {'connected_gene': 'OOSP2', 'score': 9.65}, {'connected_gene': 'MS4A6A', 'score': 7.34}, {'connected_gene': 'MS4A4A', 'score': 5.91}, {'connected_gene': 'MS4A4E', 'score': 0.44}]
chr11 GH11I059968 59968129 59968413 0.97 [{'connected_gene': 'OOSP2', 'score': 11.17}, {'connected_gene': 'MS4A3', 'score': 11.1}, {'connected_gene': 'MS4A2', 'score': 9.82}, {'connected_gene': 'MRPL16', 'score': 3.56}, {'connected_gene': 'OOSP1', 'score': 0.31}, {'connected_gene': 'LOC105369444', 'score': 0.22}]