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
ENST00000340030 [[172628153, 172628689], [172633473, 172633530], [172634761, 172636014]] [[172628341, 172628689], [172633473, 172633509]]
ENST00000367721 [[172628157, 172628689], [172629234, 172629280], [172633473, 172633530], [172634761, 172636014]] [[172628341, 172628689], [172629234, 172629280], [172633473, 172633530], [172634761, 172635156]]
NM_001302746 [[172628147, 172628689], [172633473, 172633530], [172634761, 172636013]] [[172628341, 172628689], [172633473, 172633509]]
NM_000639 [[172628147, 172628689], [172629234, 172629280], [172633473, 172633530], [172634761, 172636013]] [[172628341, 172628689], [172629234, 172629280], [172633473, 172633530], [172634761, 172635156]]
Promoter
Chrom Start End Description
chr1 172628236 172628251 CAGE_peak_1_at_FASLG_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I172717 172717330 172720130 1.16 [{'connected_gene': 'PIGC', 'score': 25.35}, {'connected_gene': 'ENSG00000224228', 'score': 19.16}, {'connected_gene': 'METTL13', 'score': 16.74}, {'connected_gene': 'RNU6-693P', 'score': 12.17}, {'connected_gene': 'FASLG', 'score': 10.95}, {'connected_gene': 'SUCO', 'score': 9.85}, {'connected_gene': 'C1orf105', 'score': 9.82}, {'connected_gene': 'SLC25A38P1', 'score': 0.31}]
chr1 GH01I172495 172495344 172496374 0.65 [{'connected_gene': 'SUCO', 'score': 15.24}, {'connected_gene': 'PIGC', 'score': 10.35}, {'connected_gene': 'C1orf105', 'score': 10.3}, {'connected_gene': 'FASLG', 'score': 6.2}, {'connected_gene': 'LOC102724528', 'score': 0.28}]
chr1 GH01I172673 172673647 172676669 0.72 [{'connected_gene': 'SUCO', 'score': 5.79}, {'connected_gene': 'FASLG', 'score': 0.37}, {'connected_gene': 'SLC25A38P1', 'score': 0.19}]
chr1 GH01I172669 172669970 172671931 0.99 [{'connected_gene': 'SUCO', 'score': 1.44}, {'connected_gene': 'FASLG', 'score': 0.39}, {'connected_gene': 'SLC25A38P1', 'score': 0.18}]
chr1 GH01I172643 172643401 172644000 1.17 [{'connected_gene': 'SUCO', 'score': 8.56}, {'connected_gene': 'FASLG', 'score': 0.37}, {'connected_gene': 'RNU6-693P', 'score': 0.29}]
chr1 GH01I172625 172625401 172625800 0.2 [{'connected_gene': 'SUCO', 'score': 11.91}, {'connected_gene': 'FASLG', 'score': 11.5}, {'connected_gene': 'RNU6-693P', 'score': 0.39}]
chr1 GH01I172647 172647073 172647810 0.51 [{'connected_gene': 'SUCO', 'score': 10.54}, {'connected_gene': 'FASLG', 'score': 0.39}, {'connected_gene': 'RNU6-693P', 'score': 0.29}]
chr1 GH01I172616 172616401 172616800 0.2 [{'connected_gene': 'SUCO', 'score': 12.35}, {'connected_gene': 'RNU6-693P', 'score': 0.77}, {'connected_gene': 'FASLG', 'score': 0.26}]
chr1 GH01I172728 172728121 172728270 0.75 [{'connected_gene': 'SLC25A38P1', 'score': 0.34}, {'connected_gene': 'FASLG', 'score': 0.2}]
chr1 GH01I172892 172892612 172899926 1.44 [{'connected_gene': 'FASLG', 'score': 14.93}, {'connected_gene': 'TNFSF4', 'score': 11.74}, {'connected_gene': 'ENSG00000224228', 'score': 8.04}, {'connected_gene': 'SUCO', 'score': 3.46}, {'connected_gene': 'ENSG00000224000', 'score': 0.39}, {'connected_gene': 'AIMP1P2', 'score': 0.39}]
chr1 GH01I172662 172662249 172664490 1.53 [{'connected_gene': 'FASLG', 'score': 23.3}, {'connected_gene': 'SUCO', 'score': 13.67}, {'connected_gene': 'METTL13', 'score': 10.79}, {'connected_gene': 'SLC25A38P1', 'score': 0.18}]
chr1 GH01I172703 172703580 172704803 0.79 [{'connected_gene': 'FASLG', 'score': 25.55}, {'connected_gene': 'SUCO', 'score': 3.39}, {'connected_gene': 'SLC25A38P1', 'score': 0.26}]
chr1 GH01I172696 172696354 172701743 1.28 [{'connected_gene': 'FASLG', 'score': 8.57}, {'connected_gene': 'SUCO', 'score': 5.0}, {'connected_gene': 'SLC25A38P1', 'score': 0.25}]
chr1 GH01I172658 172658686 172661738 1.62 [{'connected_gene': 'FASLG', 'score': 550.77}, {'connected_gene': 'SUCO', 'score': 7.22}, {'connected_gene': 'SLC25A38P1', 'score': 0.17}]
chr1 GH01I172629 172629394 172630458 0.49 [{'connected_gene': 'FASLG', 'score': 11.52}, {'connected_gene': 'SUCO', 'score': 7.7}, {'connected_gene': 'RNU6-693P', 'score': 0.37}]
chr1 GH01I172725 172725081 172725090 0.52 [{'connected_gene': 'FASLG', 'score': 10.52}, {'connected_gene': 'ENSG00000224228', 'score': 9.6}, {'connected_gene': 'SLC25A38P1', 'score': 0.34}]
chr1 GH01I172672 172672185 172673050 0.58 [{'connected_gene': 'FASLG', 'score': 0.39}, {'connected_gene': 'SLC25A38P1', 'score': 0.18}]
chr1 GH01I172320 172320432 172327171 1.33 [{'connected_gene': 'FASLG', 'score': 4.78}, {'connected_gene': 'ENSG00000226375', 'score': 4.72}, {'connected_gene': 'GC01P172366', 'score': 0.26}, {'connected_gene': 'PIR59615', 'score': 0.18}, {'connected_gene': 'DNM3', 'score': 0.04}]
chr1 GH01I172173 172173498 172173508 0.23 [{'connected_gene': 'DNM3', 'score': 1.29}, {'connected_gene': 'FASLG', 'score': 1.26}, {'connected_gene': 'GC01P172160', 'score': 0.39}, {'connected_gene': 'GC01P172209', 'score': 0.28}]
chr1 GH01I172637 172637171 172640858 1.44 [{'connected_gene': 'RNU6-693P', 'score': 12.89}, {'connected_gene': 'SUCO', 'score': 11.13}, {'connected_gene': 'FASLG', 'score': 6.37}]
chr1 GH01I172654 172654179 172655383 0.63 [{'connected_gene': 'RNU6-693P', 'score': 11.37}, {'connected_gene': 'SUCO', 'score': 10.9}, {'connected_gene': 'FASLG', 'score': 0.77}]
chr1 GH01I172681 172681918 172683371 0.4 [{'connected_gene': 'RNU6-693P', 'score': 11.67}, {'connected_gene': 'FASLG', 'score': 11.4}, {'connected_gene': 'C1orf105', 'score': 9.51}, {'connected_gene': 'SLC25A38P1', 'score': 0.2}]
chr1 GH01I172715 172715789 172717096 0.57 [{'connected_gene': 'RNU6-693P', 'score': 12.17}, {'connected_gene': 'FASLG', 'score': 10.95}, {'connected_gene': 'SUCO', 'score': 9.85}, {'connected_gene': 'PIGC', 'score': 9.82}, {'connected_gene': 'C1orf105', 'score': 9.82}, {'connected_gene': 'SLC25A38P1', 'score': 0.29}]
chr1 GH01I172239 172239550 172240367 0.2 [{'connected_gene': 'RNU6-157P', 'score': 10.55}, {'connected_gene': 'ENSG00000226375', 'score': 4.5}, {'connected_gene': 'FASLG', 'score': 4.28}, {'connected_gene': 'PIR59615', 'score': 0.44}, {'connected_gene': 'GC01P172216', 'score': 0.34}, {'connected_gene': 'DNM3', 'score': 0.05}]
chr1 GH01I172708 172708295 172709106 0.58 [{'connected_gene': 'ENSG00000224228', 'score': 4.53}, {'connected_gene': 'SLC25A38P1', 'score': 0.28}, {'connected_gene': 'FASLG', 'score': 0.25}]
chr1 GH01I172744 172744764 172747433 1.48 [{'connected_gene': 'ENSG00000224228', 'score': 6.35}, {'connected_gene': 'SLC25A38P1', 'score': 0.77}, {'connected_gene': 'FASLG', 'score': 0.17}]