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
ENST00000244930 [[61976139, 61976258], [61977884, 61978072], [61981197, 61981408]] [[61976203, 61976258], [61977884, 61978072], [61981197, 61981242]]
NM_002407 [[61976139, 61976258], [61977884, 61978072], [61981197, 61981411]] [[61976203, 61976258], [61977884, 61978072], [61981197, 61981242]]
Promoter
Chrom Start End Description
chr11 61976137 61976152 CAGE_peak_1_at_SCGB2A1_5end
chr11 61976154 61976157 CAGE_peak_2_at_SCGB2A1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I062311 62311016 62312000 1.04 [{'connected_gene': 'ASRGL1', 'score': 21.87}, {'connected_gene': 'SCGB2A1', 'score': 4.89}, {'connected_gene': 'SCGB1D4', 'score': 0.39}, {'connected_gene': 'NPM1P35', 'score': 0.37}]
chr11 GH11I062270 62270109 62270168 0.61 [{'connected_gene': 'SCGB2A2', 'score': 550.77}, {'connected_gene': 'SCGB2A1', 'score': 4.71}, {'connected_gene': 'SCGB1D4', 'score': 0.31}]
chr11 GH11I062208 62208624 62208683 0.76 [{'connected_gene': 'SCGB2A1', 'score': 550.77}, {'connected_gene': 'SCGB1D1', 'score': 0.37}]
chr11 GH11I062412 62412828 62414422 0.31 [{'connected_gene': 'INCENP', 'score': 5.89}, {'connected_gene': 'ASRGL1', 'score': 4.94}, {'connected_gene': 'SCGB2A1', 'score': 4.58}, {'connected_gene': 'SCGB1A1', 'score': 0.44}, {'connected_gene': 'LOC102723765', 'score': 0.39}]
chr11 GH11I062410 62410487 62412778 0.43 [{'connected_gene': 'INCENP', 'score': 5.88}, {'connected_gene': 'ASRGL1', 'score': 5.29}, {'connected_gene': 'SCGB2A1', 'score': 4.51}, {'connected_gene': 'SCGB1A1', 'score': 0.44}, {'connected_gene': 'LOC102723765', 'score': 0.37}]
chr11 GH11I062394 62394449 62403278 1.71 [{'connected_gene': 'NXF1', 'score': 20.35}, {'connected_gene': 'CPSF7', 'score': 19.58}, {'connected_gene': 'CSKMT', 'score': 18.95}, {'connected_gene': 'ASRGL1', 'score': 18.86}, {'connected_gene': 'GANAB', 'score': 17.67}, {'connected_gene': 'SNHG1', 'score': 17.03}, {'connected_gene': 'EML3', 'score': 16.2}, {'connected_gene': 'RN7SL23P', 'score': 15.64}, {'connected_gene': 'INTS5', 'score': 13.82}, {'connected_gene': 'STX5', 'score': 13.74}, {'connected_gene': 'MTA2', 'score': 12.84}, {'connected_gene': 'TUT1', 'score': 11.66}, {'connected_gene': 'TAF6L', 'score': 11.58}, {'connected_gene': 'LOC105369332', 'score': 11.5}, {'connected_gene': 'TMEM179B', 'score': 10.34}, {'connected_gene': 'UBXN1', 'score': 10.16}, {'connected_gene': 'SCGB2A1', 'score': 5.74}, {'connected_gene': 'INCENP', 'score': 5.72}, {'connected_gene': 'DAGLA', 'score': 4.23}, {'connected_gene': 'ENSG00000255126', 'score': 0.44}, {'connected_gene': 'SCGB1A1', 'score': 0.44}]
chr11 GH11I062386 62386229 62386358 0.31 [{'connected_gene': 'LOC102723765', 'score': 11.08}, {'connected_gene': 'ENSG00000250659', 'score': 11.0}, {'connected_gene': 'ENSG00000257058', 'score': 11.0}, {'connected_gene': 'AHNAK', 'score': 10.99}, {'connected_gene': 'EEF1G', 'score': 10.63}, {'connected_gene': 'ENSG00000255508', 'score': 10.62}, {'connected_gene': 'TUT1', 'score': 10.62}, {'connected_gene': 'SCGB2A1', 'score': 5.4}, {'connected_gene': 'GC11P062385', 'score': 0.77}, {'connected_gene': 'PIR59932', 'score': 0.77}, {'connected_gene': 'ENSG00000255126', 'score': 0.44}, {'connected_gene': 'ASRGL1', 'score': 0.25}]