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
ENST00000381923 [[10323140, 10323450], [10332079, 10332227], [10335148, 10335192], [10337928, 10337967], [10339018, 10339188], [10342494, 10344384]] [[10332173, 10332227], [10335148, 10335192], [10337928, 10337967], [10339018, 10339188], [10342494, 10342739]]
ENST00000334148 [[10323228, 10323450], [10324877, 10325017]] None
ENST00000545924 [[10323327, 10323450], [10327880, 10328121]] None
ENST00000298530 [[10331611, 10332227], [10337928, 10337967], [10339018, 10339188], [10342494, 10344400]] [[10332189, 10332227], [10337928, 10337967], [10339018, 10339188], [10342494, 10342739]]
ENST00000543484 [[10331901, 10332227], [10335148, 10335192], [10337928, 10337967], [10339018, 10339151]] [[10332173, 10332227], [10335148, 10335192], [10337928, 10337967], [10339018, 10339151]]
ENST00000536952 [[10332112, 10332227], [10335148, 10335192], [10337928, 10337967], [10339018, 10339188], [10342494, 10343582]] [[10332173, 10332227], [10335148, 10335192], [10337928, 10337967], [10339018, 10339188], [10342494, 10342739]]
ENST00000546153 [[10338995, 10339188], [10342494, 10342862]] None
NM_001079815 [[10323197, 10323450], [10332079, 10332227], [10335148, 10335192], [10337928, 10337967], [10339018, 10339188], [10342494, 10344403]] [[10332173, 10332227], [10335148, 10335192], [10337928, 10337967], [10339018, 10339188], [10342494, 10342739]]
NM_153022 [[10331556, 10332227], [10337928, 10337967], [10339018, 10339188], [10342494, 10344403]] [[10332189, 10332227], [10337928, 10337967], [10339018, 10339188], [10342494, 10342739]]
Promoter
Chrom Start End Description
chr12 10331605 10331616 CAGE_peak_5_at_C12orf59_5end
chr12 10331623 10331639 CAGE_peak_1_at_C12orf59_5end
chr12 10331641 10331646 CAGE_peak_12_at_C12orf59_5end
chr12 10331652 10331666 CAGE_peak_3_at_C12orf59_5end
chr12 10339063 10339092 CAGE_peak_4_at_C12orf59_5end
chr12 10339124 10339160 CAGE_peak_2_at_C12orf59_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I010131 10131149 10131477 0.4 [{'connected_gene': 'CLEC7A', 'score': 581.17}, {'connected_gene': 'OLR1', 'score': 11.67}, {'connected_gene': 'CLEC12A', 'score': 10.72}, {'connected_gene': 'CLEC2B', 'score': 5.47}, {'connected_gene': 'GABARAPL1', 'score': 3.05}, {'connected_gene': 'CD69', 'score': 2.18}, {'connected_gene': 'LOC105369655', 'score': 0.37}, {'connected_gene': 'TMEM52B', 'score': 0.28}]
chr12 GH12I010040 10040601 10045158 0.31 [{'connected_gene': 'CLEC7A', 'score': 12.38}, {'connected_gene': 'CLEC12A-AS1', 'score': 12.36}, {'connected_gene': 'CLEC12A', 'score': 12.35}, {'connected_gene': 'TMEM52B', 'score': 10.99}, {'connected_gene': 'GABARAPL1', 'score': 10.4}, {'connected_gene': 'ENSG00000255958', 'score': 10.39}, {'connected_gene': 'CLEC1B', 'score': 9.98}, {'connected_gene': 'LINC02470', 'score': 6.86}, {'connected_gene': 'LOC100421202', 'score': 0.77}, {'connected_gene': 'ENSG00000256626', 'score': 0.77}, {'connected_gene': 'CLEC9A', 'score': 0.39}, {'connected_gene': 'RN7SKP161', 'score': 0.26}]
chr12 GH12I010027 10027201 10028400 0.63 [{'connected_gene': 'CLEC7A', 'score': 11.63}, {'connected_gene': 'CLEC12A-AS1', 'score': 10.61}, {'connected_gene': 'CLEC12A', 'score': 10.6}, {'connected_gene': 'TMEM52B', 'score': 9.89}, {'connected_gene': 'LINC02470', 'score': 6.76}, {'connected_gene': 'LOC728715', 'score': 4.42}, {'connected_gene': 'LOC102724020', 'score': 0.77}, {'connected_gene': 'GC12P010023', 'score': 0.77}]
chr12 GH12I010033 10033533 10034938 0.49 [{'connected_gene': 'CLEC7A', 'score': 12.71}, {'connected_gene': 'CLEC12B', 'score': 10.97}, {'connected_gene': 'TMEM52B', 'score': 10.34}, {'connected_gene': 'CLEC12A', 'score': 10.19}, {'connected_gene': 'CLEC12A-AS1', 'score': 10.19}, {'connected_gene': 'OLR1', 'score': 10.14}, {'connected_gene': 'GABARAPL1', 'score': 9.3}, {'connected_gene': 'ENSG00000255958', 'score': 9.3}, {'connected_gene': 'CLEC9A', 'score': 0.77}, {'connected_gene': 'LOC100421202', 'score': 0.44}]
chr12 GH12I010133 10132342 10132836 0.8 [{'connected_gene': 'CLEC7A', 'score': 0.77}, {'connected_gene': 'LOC105369655', 'score': 0.37}, {'connected_gene': 'TMEM52B', 'score': 0.28}]
chr12 GH12I010132 10132001 10132200 0.43 [{'connected_gene': 'CLEC7A', 'score': 550.77}, {'connected_gene': 'LOC105369655', 'score': 0.37}, {'connected_gene': 'TMEM52B', 'score': 0.28}]
chr12 GH12I010174 10174859 10177278 0.43 [{'connected_gene': 'OLR1', 'score': 550.77}, {'connected_gene': 'ENSG00000255958', 'score': 11.77}, {'connected_gene': 'GABARAPL1', 'score': 11.77}, {'connected_gene': 'TMEM52B', 'score': 0.44}]
chr12 GH12I010183 10183727 10187400 0.92 [{'connected_gene': 'OLR1', 'score': 36.26}, {'connected_gene': 'CLEC12A', 'score': 10.74}, {'connected_gene': 'CLEC7A', 'score': 5.43}, {'connected_gene': 'GABARAPL1', 'score': 2.02}, {'connected_gene': 'TMEM52B', 'score': 0.37}]
chr12 GH12I010168 10168915 10172413 1.34 [{'connected_gene': 'OLR1', 'score': 558.18}, {'connected_gene': 'TMEM52B', 'score': 550.77}, {'connected_gene': 'ENSG00000255958', 'score': 10.65}, {'connected_gene': 'GABARAPL1', 'score': 10.65}, {'connected_gene': 'CLEC7A', 'score': 10.04}]
chr12 GH12I010190 10190800 10192637 0.92 [{'connected_gene': 'OLR1', 'score': 23.45}, {'connected_gene': 'TMEM52B', 'score': 0.34}, {'connected_gene': 'GABARAPL1', 'score': 0.34}]
chr12 GH12I010182 10182050 10183400 0.79 [{'connected_gene': 'OLR1', 'score': 23.52}, {'connected_gene': 'TMEM52B', 'score': 7.88}, {'connected_gene': 'GABARAPL1', 'score': 0.31}]
chr12 GH12I010030 10030231 10032906 1.47 [{'connected_gene': 'CLEC9A', 'score': 550.77}, {'connected_gene': 'LOC102724020', 'score': 550.77}, {'connected_gene': 'CLEC7A', 'score': 12.71}, {'connected_gene': 'CLEC12B', 'score': 10.99}, {'connected_gene': 'TMEM52B', 'score': 10.21}, {'connected_gene': 'OLR1', 'score': 10.14}, {'connected_gene': 'CLEC1A', 'score': 6.81}, {'connected_gene': 'STYK1', 'score': 6.44}, {'connected_gene': 'LOC100421202', 'score': 0.44}]
chr12 GH12I010166 10166601 10168321 0.84 [{'connected_gene': 'GABARAPL1', 'score': 10.85}, {'connected_gene': 'ENSG00000255958', 'score': 10.83}, {'connected_gene': 'CLEC7A', 'score': 10.78}, {'connected_gene': 'OLR1', 'score': 10.17}, {'connected_gene': 'TMEM52B', 'score': 0.77}]
chr12 GH12I010562 10562442 10562591 0.57 [{'connected_gene': 'KLRK1', 'score': 11.15}, {'connected_gene': 'STYK1', 'score': 11.08}, {'connected_gene': 'KLRC1', 'score': 10.68}, {'connected_gene': 'TMEM52B', 'score': 9.84}, {'connected_gene': 'LINC02446', 'score': 0.44}, {'connected_gene': 'LOC105376675', 'score': 0.44}]
chr12 GH12I010178 10178850 10180569 1.09 [{'connected_gene': 'TMEM52B', 'score': 550.44}, {'connected_gene': 'OLR1', 'score': 0.77}, {'connected_gene': 'GABARAPL1', 'score': 0.29}]
chr12 GH12I010189 10189642 10190228 0.2 [{'connected_gene': 'TMEM52B', 'score': 7.85}, {'connected_gene': 'DDX12P', 'score': 4.38}, {'connected_gene': 'OLR1', 'score': 0.39}, {'connected_gene': 'GABARAPL1', 'score': 0.34}]
chr12 GH12I010152 10152822 10154600 1 [{'connected_gene': 'KLRA1P', 'score': 17.41}, {'connected_gene': 'LOC642846', 'score': 14.33}, {'connected_gene': 'TAS2R20', 'score': 13.12}, {'connected_gene': 'GABARAPL1', 'score': 11.4}, {'connected_gene': 'ENSG00000255958', 'score': 11.39}, {'connected_gene': 'TAS2R50', 'score': 11.14}, {'connected_gene': 'ENSG00000256682', 'score': 10.96}, {'connected_gene': 'DDX12P', 'score': 10.84}, {'connected_gene': 'TAS2R43', 'score': 10.56}, {'connected_gene': 'TAS2R46', 'score': 10.55}, {'connected_gene': 'CLEC9A', 'score': 10.01}, {'connected_gene': 'LOC102724020', 'score': 10.01}, {'connected_gene': 'OLR1', 'score': 7.96}, {'connected_gene': 'TMEM52B', 'score': 0.37}, {'connected_gene': 'CLEC7A', 'score': 0.34}]
chr12 GH12I010038 10038348 10040012 0.2 [{'connected_gene': 'LOC100421202', 'score': 550.77}, {'connected_gene': 'ENSG00000256626', 'score': 550.77}, {'connected_gene': 'CLEC7A', 'score': 12.37}, {'connected_gene': 'TMEM52B', 'score': 10.79}, {'connected_gene': 'ENSG00000255958', 'score': 10.38}, {'connected_gene': 'GABARAPL1', 'score': 10.37}, {'connected_gene': 'CLEC1A', 'score': 4.96}, {'connected_gene': 'CLEC9A', 'score': 0.44}]
chr12 GH12I010165 10165801 10166000 0.2 [{'connected_gene': 'ENSG00000255958', 'score': 11.27}, {'connected_gene': 'GABARAPL1', 'score': 11.27}, {'connected_gene': 'CLEC7A', 'score': 11.04}, {'connected_gene': 'OLR1', 'score': 7.25}, {'connected_gene': 'TMEM52B', 'score': 0.77}]
chr12 GH12I010160 10160801 10161200 0.2 [{'connected_gene': 'ENSG00000255958', 'score': 11.16}, {'connected_gene': 'GABARAPL1', 'score': 11.16}, {'connected_gene': 'TMEM52B', 'score': 5.21}, {'connected_gene': 'OLR1', 'score': 0.37}, {'connected_gene': 'CLEC7A', 'score': 0.29}]
chr12 GH12I010318 10318732 10323167 0.46 [{'connected_gene': 'ENSG00000255958', 'score': 10.06}, {'connected_gene': 'GABARAPL1', 'score': 10.06}, {'connected_gene': 'TMEM52B', 'score': 9.91}, {'connected_gene': 'KLRC1', 'score': 9.79}, {'connected_gene': 'KLRD1', 'score': 7.03}, {'connected_gene': 'ENSG00000256288', 'score': 0.37}, {'connected_gene': 'LOC105369656', 'score': 0.31}]