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
ENST00000383693 [[100120036, 100121283], [100148540, 100148729], [100170562, 100170793], [100174620, 100175163]] [[100148573, 100148729], [100170562, 100170793], [100174620, 100174770]]
ENST00000466996 [[100120375, 100121283], [100148540, 100148729], [100170579, 100170793], [100174620, 100175032]] [[100148573, 100148729], [100170579, 100170594]]
ENST00000489752 [[100120454, 100121283], [100148540, 100148729], [100170523, 100170793], [100174620, 100175145]] [[100148573, 100148729], [100170523, 100170793], [100174620, 100174770]]
NM_001085451 [[100120036, 100121283], [100148540, 100148729], [100170562, 100170793], [100174620, 100175170]] [[100148573, 100148729], [100170562, 100170793], [100174620, 100174770]]
Promoter
Chrom Start End Description
chr3 100120375 100120431 CAGE_peak_1_at_LNP1_5end
chr3 100120441 100120453 CAGE_peak_5_at_LNP1_5end
chr3 100120462 100120481 CAGE_peak_4_at_LNP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I100386 100386013 100387465 0.73 [{'connected_gene': 'TOMM70', 'score': 9.33}, {'connected_gene': 'LNP1', 'score': 0.39}, {'connected_gene': 'NIT2', 'score': 0.23}]
chr3 GH03I100608 100608852 100616052 1.47 [{'connected_gene': 'ADGRG7', 'score': 550.77}, {'connected_gene': 'TFG', 'score': 16.39}, {'connected_gene': 'ENSG00000252989', 'score': 11.27}, {'connected_gene': 'TOMM70', 'score': 5.81}, {'connected_gene': 'TMEM45A', 'score': 5.01}, {'connected_gene': 'LNP1', 'score': 4.8}, {'connected_gene': 'GC03M100588', 'score': 0.37}]
chr3 GH03I100309 100309248 100309631 0.22 [{'connected_gene': 'NIT2', 'score': 11.94}, {'connected_gene': 'TBC1D23', 'score': 11.91}, {'connected_gene': 'LNP1', 'score': 10.82}, {'connected_gene': 'TOMM70', 'score': 10.82}, {'connected_gene': 'TFG', 'score': 9.79}]
chr3 GH03I100333 100333694 100337095 1.99 [{'connected_gene': 'NIT2', 'score': 563.51}, {'connected_gene': 'LNP1', 'score': 31.32}, {'connected_gene': 'TOMM70', 'score': 18.25}, {'connected_gene': 'TBC1D23', 'score': 16.69}]
chr3 GH03I100359 100359139 100359354 0.25 [{'connected_gene': 'NIT2', 'score': 12.08}, {'connected_gene': 'LNP1', 'score': 11.49}, {'connected_gene': 'TOMM70', 'score': 11.49}, {'connected_gene': 'FILIP1L', 'score': 1.21}]
chr3 GH03I100360 100360335 100360578 0.22 [{'connected_gene': 'NIT2', 'score': 12.05}, {'connected_gene': 'LNP1', 'score': 11.49}, {'connected_gene': 'TOMM70', 'score': 11.49}]
chr3 GH03I100352 100352264 100353388 0.52 [{'connected_gene': 'NIT2', 'score': 0.37}, {'connected_gene': 'LNP1', 'score': 0.25}]
chr3 GH03I100424 100424966 100425986 0.59 [{'connected_gene': 'TBC1D23', 'score': 4.39}, {'connected_gene': 'PIR48705', 'score': 0.34}, {'connected_gene': 'LNP1', 'score': 0.34}, {'connected_gene': 'GC03P100464', 'score': 0.28}]
chr3 GH03I100553 100553393 100555934 0.59 [{'connected_gene': 'TMEM45A', 'score': 13.3}, {'connected_gene': 'LNP1', 'score': 10.05}, {'connected_gene': 'TOMM70', 'score': 10.05}, {'connected_gene': 'GC03P100561', 'score': 0.44}, {'connected_gene': 'GC03P100533', 'score': 0.34}]
chr3 GH03I100556 100556450 100557468 0.66 [{'connected_gene': 'TMEM45A', 'score': 11.29}, {'connected_gene': 'LNP1', 'score': 10.05}, {'connected_gene': 'TOMM70', 'score': 10.05}, {'connected_gene': 'GC03P100561', 'score': 0.77}, {'connected_gene': 'GC03P100533', 'score': 0.34}]
chr3 GH03I100395 100395368 100397200 0.6 [{'connected_gene': 'LNP1', 'score': 20.82}, {'connected_gene': 'TOMM70', 'score': 0.44}, {'connected_gene': 'NIT2', 'score': 0.21}]
chr3 GH03I100369 100369585 100369858 0.24 [{'connected_gene': 'LNP1', 'score': 11.07}, {'connected_gene': 'TOMM70', 'score': 11.07}, {'connected_gene': 'NIT2', 'score': 0.28}]
chr3 GH03I100398 100398001 100398200 0.2 [{'connected_gene': 'LNP1', 'score': 0.77}, {'connected_gene': 'TOMM70', 'score': 0.77}, {'connected_gene': 'NIT2', 'score': 0.21}]
chr3 GH03I100399 100399390 100404289 2.07 [{'connected_gene': 'LNP1', 'score': 570.83}, {'connected_gene': 'TOMM70', 'score': 558.51}, {'connected_gene': 'PIR48705', 'score': 550.77}, {'connected_gene': 'TBC1D23', 'score': 11.06}, {'connected_gene': 'TFG', 'score': 9.84}, {'connected_gene': 'GC03P100464', 'score': 0.21}]
chr3 GH03I100316 100316657 100316846 0.67 [{'connected_gene': 'LNP1', 'score': 10.59}, {'connected_gene': 'TOMM70', 'score': 10.59}, {'connected_gene': 'TFG', 'score': 10.31}, {'connected_gene': 'TBC1D23', 'score': 7.37}, {'connected_gene': 'NIT2', 'score': 0.37}]
chr3 GH03I100781 100781797 100784233 0.43 [{'connected_gene': 'LNP1', 'score': 7.08}, {'connected_gene': 'GC03P100791', 'score': 0.44}, {'connected_gene': 'GC03P100766', 'score': 0.37}, {'connected_gene': 'ABI3BP', 'score': 0.08}]
chr3 GH03I100810 100810823 100810986 0.38 [{'connected_gene': 'LNP1', 'score': 6.3}, {'connected_gene': 'GC03P100818', 'score': 0.44}, {'connected_gene': 'GC03P100791', 'score': 0.37}, {'connected_gene': 'ABI3BP', 'score': 0.09}]
chr3 GH03I099750 99750657 99754126 0.85 [{'connected_gene': 'FILIP1L', 'score': 12.54}, {'connected_gene': 'LNP1', 'score': 5.01}, {'connected_gene': 'TMEM45A', 'score': 4.49}, {'connected_gene': 'PIR47462', 'score': 0.39}, {'connected_gene': 'GC03P099792', 'score': 0.28}, {'connected_gene': 'COL8A1', 'score': 0.14}]
chr3 GH03I101009 101009359 101011495 0.38 [{'connected_gene': 'RNU6-865P', 'score': 10.94}, {'connected_gene': 'ABI3BP', 'score': 6.06}, {'connected_gene': 'LNP1', 'score': 4.89}, {'connected_gene': 'GC03M101028', 'score': 0.34}]
chr3 GH03I100639 100639888 100642774 1.21 [{'connected_gene': 'TFG', 'score': 15.53}, {'connected_gene': 'ADGRG7', 'score': 11.19}, {'connected_gene': 'TMEM45A', 'score': 5.61}, {'connected_gene': 'LNP1', 'score': 4.07}, {'connected_gene': 'ENSG00000252989', 'score': 0.77}, {'connected_gene': 'GC03M100588', 'score': 0.39}]
chr3 GH03I100634 100634595 100637404 1.29 [{'connected_gene': 'TFG', 'score': 7.61}, {'connected_gene': 'TMEM45A', 'score': 5.89}, {'connected_gene': 'LNP1', 'score': 4.29}, {'connected_gene': 'GC03M100588', 'score': 0.44}, {'connected_gene': 'ENSG00000252989', 'score': 0.39}, {'connected_gene': 'ADGRG7', 'score': 0.31}]
chr3 GH03I100591 100591089 100592181 0.69 [{'connected_gene': 'TFG', 'score': 18.35}, {'connected_gene': 'LNP1', 'score': 10.96}, {'connected_gene': 'TOMM70', 'score': 10.96}, {'connected_gene': 'TMEM45A', 'score': 7.45}, {'connected_gene': 'GC03P100589', 'score': 0.77}, {'connected_gene': 'ADGRG7', 'score': 0.37}, {'connected_gene': 'GC03M100588', 'score': 0.28}]
chr3 GH03I100681 100681008 100683899 0.59 [{'connected_gene': 'TFG', 'score': 18.31}, {'connected_gene': 'ENSG00000252989', 'score': 11.58}, {'connected_gene': 'LNP1', 'score': 9.32}, {'connected_gene': 'TMEM45A', 'score': 4.58}, {'connected_gene': 'GMFBP1', 'score': 0.37}, {'connected_gene': 'ADGRG7', 'score': 0.19}]
chr3 GH03I100706 100706709 100706864 0.38 [{'connected_gene': 'TFG', 'score': 9.02}, {'connected_gene': 'LNP1', 'score': 8.21}, {'connected_gene': 'GMFBP1', 'score': 0.26}]
chr3 GH03I100707 100707367 100711329 2 [{'connected_gene': 'TFG', 'score': 560.28}, {'connected_gene': 'LNP1', 'score': 8.22}, {'connected_gene': 'GC03M100717', 'score': 0.39}]
chr3 GH03I100154 100154679 100156311 0.38 [{'connected_gene': 'GC03P100154', 'score': 550.77}, {'connected_gene': 'TMEM30CP', 'score': 11.33}, {'connected_gene': 'LNP1', 'score': 4.41}, {'connected_gene': 'LOC105374009', 'score': 0.77}, {'connected_gene': 'CMSS1', 'score': 0.05}]
chr3 GH03I100590 100590401 100590959 1.11 [{'connected_gene': 'GC03P100589', 'score': 550.77}, {'connected_gene': 'LNP1', 'score': 10.34}, {'connected_gene': 'TOMM70', 'score': 10.34}, {'connected_gene': 'TMEM45A', 'score': 7.45}, {'connected_gene': 'ADGRG7', 'score': 0.37}, {'connected_gene': 'GC03M100588', 'score': 0.28}]
chr3 GH03I100438 100438017 100438166 0.31 [{'connected_gene': 'GC03P100464', 'score': 0.31}, {'connected_gene': 'PIR48705', 'score': 0.28}, {'connected_gene': 'LNP1', 'score': 0.28}]
chr3 GH03I100696 100696437 100699565 0.71 [{'connected_gene': 'ENSG00000252989', 'score': 10.27}, {'connected_gene': 'TFG', 'score': 8.44}, {'connected_gene': 'LNP1', 'score': 8.31}, {'connected_gene': 'ADGRG7', 'score': 8.13}, {'connected_gene': 'GMFBP1', 'score': 0.29}]