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
ENST00000254801 [[71521257, 71522256], [71522927, 71523008], [71527808, 71527932], [71532143, 71532377]] [[71522045, 71522256], [71522927, 71523008], [71527808, 71527932], [71532143, 71532207]]
ENST00000510437 [[71522036, 71522256], [71522927, 71523008], [71527808, 71527932], [71532143, 71532231], [71532565, 71532692]] [[71522045, 71522256], [71522927, 71523008], [71527808, 71527932], [71532143, 71532207]]
ENST00000543780 [[71522045, 71522256], [71522927, 71523008], [71527808, 71527932], [71529818, 71529866], [71532143, 71532207]] [[71522045, 71522256], [71522927, 71523008], [71527808, 71527932], [71529818, 71529866], [71532143, 71532207]]
ENST00000510614 [[71522079, 71522256], [71522927, 71523008], [71527808, 71527932], [71531576, 71531603], [71532143, 71532231], [71532565, 71532601]] [[71522079, 71522256], [71522927, 71523008], [71527808, 71527932], [71531576, 71531603], [71532143, 71532207]]
ENST00000391614 [[71522101, 71522256], [71522927, 71523008], [71527808, 71527932], [71529818, 71529866], [71532143, 71532243]] [[71522101, 71522256], [71522927, 71523008], [71527808, 71527932], [71529818, 71529866], [71532143, 71532207]]
ENST00000470866 [[71522985, 71523008], [71527808, 71527932], [71532143, 71532231], [71547494, 71547534]] [[71522985, 71523008], [71527808, 71527932], [71532143, 71532207]]
NM_144646 [[71521257, 71522256], [71522927, 71523008], [71527808, 71527932], [71532143, 71532348]] [[71522045, 71522256], [71522927, 71523008], [71527808, 71527932], [71532143, 71532207]]
Promoter
Chrom Start End Description
chr4 71532209 71532244 CAGE_peak_1_at_IGJ_5end
chr4 71532273 71532287 CAGE_peak_2_at_IGJ_5end
chr4 71532339 71532348 CAGE_peak_3_at_IGJ_5end
chr4 71532616 71532662 CAGE_peak_5_at_IGJ_5end
chr4 71532668 71532695 CAGE_peak_4_at_IGJ_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I070947 70947201 70947800 0.2 [{'connected_gene': 'MOB1B', 'score': 12.2}, {'connected_gene': 'UTP3', 'score': 10.05}, {'connected_gene': 'JCHAIN', 'score': 10.04}, {'connected_gene': 'DCK', 'score': 4.36}]
chr4 GH04I070948 70948801 70949000 0.31 [{'connected_gene': 'MOB1B', 'score': 12.2}, {'connected_gene': 'UTP3', 'score': 10.05}, {'connected_gene': 'JCHAIN', 'score': 10.04}, {'connected_gene': 'DCK', 'score': 0.26}]
chr4 GH04I070938 70938257 70938316 0.76 [{'connected_gene': 'MOB1B', 'score': 550.28}, {'connected_gene': 'GRSF1', 'score': 11.12}, {'connected_gene': 'JCHAIN', 'score': 10.22}, {'connected_gene': 'DCK', 'score': 0.23}]
chr4 GH04I070901 70901526 70904540 2.36 [{'connected_gene': 'MOB1B', 'score': 567.62}, {'connected_gene': 'DCK', 'score': 11.9}, {'connected_gene': 'GRSF1', 'score': 11.85}, {'connected_gene': 'UTP3', 'score': 10.35}, {'connected_gene': 'JCHAIN', 'score': 10.35}]
chr4 GH04I070721 70721344 70723203 1.88 [{'connected_gene': 'RUFY3', 'score': 563.9}, {'connected_gene': 'UTP3', 'score': 11.44}, {'connected_gene': 'JCHAIN', 'score': 11.4}, {'connected_gene': 'ENSG00000272986', 'score': 0.37}, {'connected_gene': 'PIR34937', 'score': 0.26}]
chr4 GH04I070733 70733285 70738078 2.28 [{'connected_gene': 'RUFY3', 'score': 576.96}, {'connected_gene': 'RNU6-784P', 'score': 13.43}, {'connected_gene': 'RNU6-520P', 'score': 13.43}, {'connected_gene': 'UTP3', 'score': 11.24}, {'connected_gene': 'JCHAIN', 'score': 11.23}, {'connected_gene': 'PIR34937', 'score': 0.31}, {'connected_gene': 'ENSG00000272986', 'score': 0.29}]
chr4 GH04I070927 70927023 70928233 0.79 [{'connected_gene': 'UTP3', 'score': 10.59}, {'connected_gene': 'JCHAIN', 'score': 10.59}, {'connected_gene': 'MOB1B', 'score': 6.33}, {'connected_gene': 'DCK', 'score': 0.21}]
chr4 GH04I070723 70723801 70724000 0.38 [{'connected_gene': 'UTP3', 'score': 11.42}, {'connected_gene': 'JCHAIN', 'score': 11.4}, {'connected_gene': 'RUFY3', 'score': 0.37}, {'connected_gene': 'ENSG00000272986', 'score': 0.37}, {'connected_gene': 'PIR34937', 'score': 0.28}]
chr4 GH04I070740 70740063 70741182 0.49 [{'connected_gene': 'UTP3', 'score': 11.05}, {'connected_gene': 'JCHAIN', 'score': 11.04}, {'connected_gene': 'PIR34937', 'score': 0.34}, {'connected_gene': 'RUFY3', 'score': 0.28}, {'connected_gene': 'ENSG00000272986', 'score': 0.28}]
chr4 GH04I070738 70738778 70739882 0.59 [{'connected_gene': 'UTP3', 'score': 11.05}, {'connected_gene': 'JCHAIN', 'score': 11.04}, {'connected_gene': 'PIR34937', 'score': 0.34}, {'connected_gene': 'ENSG00000272986', 'score': 0.29}, {'connected_gene': 'RUFY3', 'score': 0.28}]
chr4 GH04I070769 70769190 70769440 0.2 [{'connected_gene': 'UTP3', 'score': 10.82}, {'connected_gene': 'JCHAIN', 'score': 10.81}, {'connected_gene': 'PIR34937', 'score': 0.44}, {'connected_gene': 'RUFY3', 'score': 0.2}, {'connected_gene': 'GC04P070840', 'score': 0.19}]
chr4 GH04I071008 71008317 71009075 0.2 [{'connected_gene': 'UTP3', 'score': 11.0}, {'connected_gene': 'JCHAIN', 'score': 11.0}, {'connected_gene': 'DCK', 'score': 5.05}, {'connected_gene': 'MOB1B', 'score': 0.14}, {'connected_gene': 'GC04M071034', 'score': 0.1}]
chr4 GH04I071003 71003259 71007942 0.88 [{'connected_gene': 'UTP3', 'score': 11.0}, {'connected_gene': 'JCHAIN', 'score': 11.0}, {'connected_gene': 'DCK', 'score': 4.57}, {'connected_gene': 'RUFY3', 'score': 4.48}, {'connected_gene': 'MOB1B', 'score': 0.15}, {'connected_gene': 'GC04M071034', 'score': 0.1}]
chr4 GH04I071025 71025565 71026879 0.66 [{'connected_gene': 'UTP3', 'score': 10.23}, {'connected_gene': 'JCHAIN', 'score': 10.22}, {'connected_gene': 'DCK', 'score': 4.98}, {'connected_gene': 'GC04M071034', 'score': 0.12}]
chr4 GH04I071184 71184344 71184473 0.7 [{'connected_gene': 'JCHAIN', 'score': 9.11}, {'connected_gene': 'SLC4A4', 'score': 0.77}, {'connected_gene': 'GC04M071034', 'score': 0.34}]
chr4 GH04I070957 70957887 70959530 0.2 [{'connected_gene': 'JCHAIN', 'score': 10.18}, {'connected_gene': 'UTP3', 'score': 10.18}, {'connected_gene': 'DCK', 'score': 6.2}, {'connected_gene': 'RUFY3', 'score': 5.72}, {'connected_gene': 'MOB1B', 'score': 0.22}]
chr4 GH04I070759 70759134 70759800 0.49 [{'connected_gene': 'JCHAIN', 'score': 10.75}, {'connected_gene': 'UTP3', 'score': 10.55}, {'connected_gene': 'DCK', 'score': 5.61}, {'connected_gene': 'PIR34937', 'score': 0.77}, {'connected_gene': 'ENSG00000272986', 'score': 0.23}, {'connected_gene': 'RUFY3', 'score': 0.22}]
chr4 GH04I071067 71067484 71067613 0.8 [{'connected_gene': 'JCHAIN', 'score': 10.12}, {'connected_gene': 'UTP3', 'score': 9.63}, {'connected_gene': 'DCK', 'score': 0.18}, {'connected_gene': 'GC04M071034', 'score': 0.16}]
chr4 GH04I070613 70613601 70614200 0.59 [{'connected_gene': 'JCHAIN', 'score': 10.42}, {'connected_gene': 'UTP3', 'score': 10.29}, {'connected_gene': 'ENAM', 'score': 0.39}, {'connected_gene': 'AMBN', 'score': 0.34}]
chr4 GH04I070637 70637244 70637804 0.46 [{'connected_gene': 'JCHAIN', 'score': 11.19}, {'connected_gene': 'UTP3', 'score': 11.02}, {'connected_gene': 'ENAM', 'score': 0.44}, {'connected_gene': 'LOC101927297', 'score': 0.26}]
chr4 GH04I070652 70652001 70652200 0.52 [{'connected_gene': 'JCHAIN', 'score': 11.98}, {'connected_gene': 'UTP3', 'score': 11.82}, {'connected_gene': 'ENAM', 'score': 0.34}, {'connected_gene': 'LOC101927297', 'score': 0.31}]
chr4 GH04I070754 70754119 70755631 0.86 [{'connected_gene': 'JCHAIN', 'score': 11.19}, {'connected_gene': 'DCK', 'score': 5.91}, {'connected_gene': 'PIR34937', 'score': 0.44}, {'connected_gene': 'RUFY3', 'score': 0.23}, {'connected_gene': 'ENSG00000272986', 'score': 0.23}]
chr4 GH04I070682 70682864 70683553 0.2 [{'connected_gene': 'JCHAIN', 'score': 550.77}, {'connected_gene': 'LOC101927297', 'score': 0.77}, {'connected_gene': 'UTP3', 'score': 0.44}, {'connected_gene': 'ENAM', 'score': 0.23}]
chr4 GH04I070666 70666619 70666678 0.93 [{'connected_gene': 'JCHAIN', 'score': 550.37}, {'connected_gene': 'LOC101927297', 'score': 0.39}, {'connected_gene': 'ENAM', 'score': 0.28}]
chr4 GH04I070836 70836827 70840640 2.01 [{'connected_gene': 'GRSF1', 'score': 550.77}, {'connected_gene': 'GC04P070840', 'score': 550.77}, {'connected_gene': 'UTP3', 'score': 10.1}, {'connected_gene': 'JCHAIN', 'score': 10.1}, {'connected_gene': 'RUFY3', 'score': 8.35}, {'connected_gene': 'DCK', 'score': 5.96}, {'connected_gene': 'PIR34937', 'score': 0.18}]
chr4 GH04I070837 70836282 70836341 0.73 [{'connected_gene': 'GRSF1', 'score': 550.44}, {'connected_gene': 'UTP3', 'score': 10.11}, {'connected_gene': 'JCHAIN', 'score': 10.1}, {'connected_gene': 'GC04P070840', 'score': 0.77}, {'connected_gene': 'PIR34937', 'score': 0.19}]
chr4 GH04I070992 70992159 70998319 2.53 [{'connected_gene': 'DCK', 'score': 559.06}, {'connected_gene': 'RUFY3', 'score': 5.16}, {'connected_gene': 'MOB1B', 'score': 4.77}, {'connected_gene': 'JCHAIN', 'score': 3.75}, {'connected_gene': 'GC04M071034', 'score': 0.1}]
chr4 GH04I070969 70969833 70972006 0.8 [{'connected_gene': 'DCK', 'score': 19.44}, {'connected_gene': 'RUFY3', 'score': 12.17}, {'connected_gene': 'GRSF1', 'score': 11.48}, {'connected_gene': 'JCHAIN', 'score': 10.93}, {'connected_gene': 'UTP3', 'score': 10.93}, {'connected_gene': 'MOB1B', 'score': 0.2}]
chr4 GH04I070742 70742401 70742600 0.4 [{'connected_gene': 'RNU6-784P', 'score': 11.98}, {'connected_gene': 'RUFY3', 'score': 11.98}, {'connected_gene': 'RNU6-520P', 'score': 11.96}, {'connected_gene': 'UTP3', 'score': 10.45}, {'connected_gene': 'JCHAIN', 'score': 10.43}, {'connected_gene': 'PIR34937', 'score': 0.34}, {'connected_gene': 'ENSG00000272986', 'score': 0.28}]
chr4 GH04I070673 70673523 70674224 0.2 [{'connected_gene': 'LOC101927297', 'score': 0.77}, {'connected_gene': 'JCHAIN', 'score': 0.44}, {'connected_gene': 'ENAM', 'score': 0.25}]
chr4 GH04I070671 70671908 70672729 0.2 [{'connected_gene': 'LOC101927297', 'score': 0.44}, {'connected_gene': 'JCHAIN', 'score': 0.44}, {'connected_gene': 'ENAM', 'score': 0.26}]
chr4 GH04I070678 70677953 70679133 1.14 [{'connected_gene': 'LOC101927297', 'score': 550.77}, {'connected_gene': 'ENAM', 'score': 10.8}, {'connected_gene': 'JCHAIN', 'score': 6.86}, {'connected_gene': 'DCK', 'score': 2.9}]
chr4 GH04I070677 70677400 70677601 0.51 [{'connected_gene': 'LOC101927297', 'score': 550.77}, {'connected_gene': 'ENAM', 'score': 10.8}, {'connected_gene': 'JCHAIN', 'score': 0.77}]