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
ENST00000284320 [[100082274, 100084561], [100086887, 100087010], [100087881, 100087979], [100091449, 100091566], [100092381, 100092489], [100093861, 100093996], [100096548, 100096756], [100100458, 100100607], [100103322, 100103432], [100105061, 100105188], [100105648, 100105822], [100119469, 100120242]] [[100084407, 100084561], [100086887, 100087010], [100087881, 100087979], [100091449, 100091566], [100092381, 100092489], [100093861, 100093996], [100096548, 100096756], [100100458, 100100607], [100103322, 100103432], [100105061, 100105188], [100105648, 100105822], [100119469, 100119793]]
ENST00000483945 [[100090849, 100091566], [100092381, 100092569]] None
ENST00000492171 [[100096259, 100096756], [100100458, 100100616]] None
NM_014820 [[100082302, 100084561], [100086887, 100087010], [100087881, 100087979], [100091449, 100091566], [100092381, 100092489], [100093861, 100093996], [100096548, 100096756], [100100458, 100100607], [100103322, 100103432], [100105061, 100105188], [100105648, 100105822], [100119469, 100120242]] [[100084407, 100084561], [100086887, 100087010], [100087881, 100087979], [100091449, 100091566], [100092381, 100092489], [100093861, 100093996], [100096548, 100096756], [100100458, 100100607], [100103322, 100103432], [100105061, 100105188], [100105648, 100105822], [100119469, 100119793]]
Promoter
Chrom Start End Description
chr3 100119874 100119895 CAGE_peak_3_at_TOMM70A_5end
chr3 100119897 100119967 CAGE_peak_1_at_TOMM70A_5end
chr3 100120004 100120020 CAGE_peak_4_at_TOMM70A_5end
chr3 100120223 100120301 CAGE_peak_2_at_TOMM70A_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 GH03I100518 100518537 100520035 0.46 [{'connected_gene': 'TMEM45A', 'score': 8.66}, {'connected_gene': 'TOMM70', 'score': 5.21}, {'connected_gene': 'TFG', 'score': 5.11}, {'connected_gene': 'GC03P100533', 'score': 0.39}]
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 GH03I099950 99950825 99954208 1 [{'connected_gene': 'FILIP1L', 'score': 17.33}, {'connected_gene': 'TOMM70', 'score': 4.24}, {'connected_gene': 'GC03M099958', 'score': 0.44}, {'connected_gene': 'GC03M099937', 'score': 0.39}, {'connected_gene': 'CMSS1', 'score': 0.12}]
chr3 GH03I099934 99934808 99936228 1.16 [{'connected_gene': 'FILIP1L', 'score': 30.22}, {'connected_gene': 'CMSS1', 'score': 10.26}, {'connected_gene': 'TOMM70', 'score': 4.23}, {'connected_gene': 'GC03P099933', 'score': 0.77}, {'connected_gene': 'GC03M099937', 'score': 0.77}]
chr3 GH03I099858 99858583 99863984 1.32 [{'connected_gene': 'FILIP1L', 'score': 30.45}, {'connected_gene': 'TBC1D23', 'score': 11.1}, {'connected_gene': 'CMSS1', 'score': 10.18}, {'connected_gene': 'TOMM70', 'score': 3.98}, {'connected_gene': 'PIR40829', 'score': 0.39}, {'connected_gene': 'GC03M099852', 'score': 0.31}]
chr3 GH03I100797 100797535 100797586 0.23 [{'connected_gene': 'RNU6-865P', 'score': 11.02}, {'connected_gene': 'TOMM70', 'score': 4.68}, {'connected_gene': 'ABI3BP', 'score': 3.54}, {'connected_gene': 'GC03P100791', 'score': 0.44}, {'connected_gene': 'GC03P100818', 'score': 0.34}]
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 GH03I099824 99824490 99826216 0.98 [{'connected_gene': 'HP09053', 'score': 550.77}, {'connected_gene': 'FILIP1L', 'score': 17.54}, {'connected_gene': 'TBC1D23', 'score': 10.12}, {'connected_gene': 'TOMM70', 'score': 3.98}, {'connected_gene': 'CMSS1', 'score': 0.44}, {'connected_gene': 'PIR39775', 'score': 0.34}]
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}]