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
ENST00000509617 [[71858254, 71858308], [71858570, 71858795], [71859448, 71859597]] [[71859552, 71859597]]
ENST00000286648 [[71859155, 71859643], [71863783, 71863899], [71888083, 71888277], [71889275, 71889423], [71891532, 71891648], [71892381, 71892472], [71895068, 71896631]] [[71859552, 71859643], [71863783, 71863899], [71888083, 71888277], [71889275, 71889423], [71891532, 71891648], [71892381, 71892472], [71895068, 71895095]]
ENST00000503359 [[71859279, 71859734], [71863783, 71863899], [71888083, 71888277], [71889275, 71889423], [71891532, 71891648], [71892381, 71892472], [71895068, 71896631]] [[71859552, 71859699]]
ENST00000504952 [[71859354, 71859643], [71863783, 71863899], [71888083, 71888277], [71889275, 71889423], [71891532, 71891648], [71892381, 71892472], [71894339, 71894436], [71895068, 71896631]] [[71859552, 71859643], [71863783, 71863899], [71888083, 71888277], [71889275, 71889423], [71891532, 71891648], [71892381, 71892472], [71894339, 71894436], [71895068, 71895169]]
ENST00000504730 [[71859354, 71859643], [71863783, 71863899], [71888083, 71888277], [71889275, 71889423], [71892381, 71892472], [71895068, 71896631]] [[71859552, 71859643], [71863783, 71863899], [71888083, 71888277], [71889275, 71889423], [71892381, 71892432]]
ENST00000509764 [[71891600, 71891648], [71892381, 71892516]] None
NM_000788 [[71859264, 71859643], [71863783, 71863899], [71888083, 71888277], [71889275, 71889423], [71891532, 71891648], [71892381, 71892472], [71895068, 71896631]] [[71859552, 71859643], [71863783, 71863899], [71888083, 71888277], [71889275, 71889423], [71891532, 71891648], [71892381, 71892472], [71895068, 71895095]]
Promoter
Chrom Start End Description
chr4 71859258 71859372 CAGE_peak_1_at_DCK_5end
chr4 71859385 71859407 CAGE_peak_2_at_DCK_5end
chr4 71859413 71859473 CAGE_peak_3_at_DCK_5end
chr4 71859476 71859496 CAGE_peak_5_at_DCK_5end
chr4 71859502 71859522 CAGE_peak_4_at_DCK_5end
chr4 71859526 71859547 CAGE_peak_6_at_DCK_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 GH04I070923 70923964 70924401 0.86 [{'connected_gene': 'MOB1B', 'score': 12.7}, {'connected_gene': 'DCK', 'score': 0.2}]
chr4 GH04I070946 70946401 70947000 0.2 [{'connected_gene': 'MOB1B', 'score': 0.26}, {'connected_gene': 'DCK', 'score': 0.25}]
chr4 GH04I070926 70926002 70926453 0.79 [{'connected_gene': 'MOB1B', 'score': 12.7}, {'connected_gene': 'DCK', 'score': 0.2}]
chr4 GH04I071107 71107202 71108759 0.2 [{'connected_gene': 'SLC4A4', 'score': 5.97}, {'connected_gene': 'DCK', 'score': 5.04}, {'connected_gene': 'GC04M071034', 'score': 0.23}]
chr4 GH04I071126 71126341 71127583 0.57 [{'connected_gene': 'SLC4A4', 'score': 8.76}, {'connected_gene': 'DCK', 'score': 4.19}, {'connected_gene': 'GC04M071034', 'score': 0.29}]
chr4 GH04I070973 70973108 70974085 0.31 [{'connected_gene': 'RUFY3', 'score': 12.16}, {'connected_gene': 'MOB1B', 'score': 5.7}, {'connected_gene': 'DCK', 'score': 0.37}]
chr4 GH04I070914 70914084 70916233 0.65 [{'connected_gene': 'RUFY3', 'score': 4.83}, {'connected_gene': 'MOB1B', 'score': 0.39}, {'connected_gene': 'DCK', 'score': 0.18}]
chr4 GH04I070953 70953801 70954800 0.46 [{'connected_gene': 'RUFY3', 'score': 12.18}, {'connected_gene': 'DCK', 'score': 7.36}, {'connected_gene': 'MOB1B', 'score': 0.23}]
chr4 GH04I071130 71130322 71132072 0.95 [{'connected_gene': 'RUFY3', 'score': 4.34}, {'connected_gene': 'GC04M071034', 'score': 0.31}, {'connected_gene': 'DCK', 'score': 0.12}]
chr4 GH04I071137 71137205 71138898 0.2 [{'connected_gene': 'RUFY3', 'score': 4.26}, {'connected_gene': 'DCK', 'score': 4.12}, {'connected_gene': 'GC04M071034', 'score': 0.34}]
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 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 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 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 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 GH04I070944 70944601 70944800 0.2 [{'connected_gene': 'DCK', 'score': 7.85}, {'connected_gene': 'MOB1B', 'score': 0.26}]
chr4 GH04I070979 70979764 70979913 0.46 [{'connected_gene': 'DCK', 'score': 0.39}, {'connected_gene': 'MOB1B', 'score': 0.18}]
chr4 GH04I070974 70974205 70974878 0.2 [{'connected_gene': 'DCK', 'score': 0.37}, {'connected_gene': 'MOB1B', 'score': 0.19}]
chr4 GH04I070942 70942801 70943200 0.46 [{'connected_gene': 'DCK', 'score': 7.85}, {'connected_gene': 'MOB1B', 'score': 0.26}]
chr4 GH04I071009 71009165 71010753 0.84 [{'connected_gene': 'DCK', 'score': 5.16}, {'connected_gene': 'MOB1B', 'score': 0.14}, {'connected_gene': 'GC04M071034', 'score': 0.11}]
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 GH04I070773 70773401 70773600 0.31 [{'connected_gene': 'DCK', 'score': 6.29}, {'connected_gene': 'PIR34937', 'score': 0.39}, {'connected_gene': 'RUFY3', 'score': 0.2}, {'connected_gene': 'GC04P070840', 'score': 0.2}]
chr4 GH04I070778 70778826 70779978 0.92 [{'connected_gene': 'DCK', 'score': 6.28}, {'connected_gene': 'PIR34937', 'score': 0.37}, {'connected_gene': 'GC04P070840', 'score': 0.21}, {'connected_gene': 'RUFY3', 'score': 0.18}]
chr4 GH04I070894 70894256 70897328 0.74 [{'connected_gene': 'DCK', 'score': 7.53}, {'connected_gene': 'GC04P070898', 'score': 0.77}, {'connected_gene': 'GC04P070862', 'score': 0.29}]
chr4 GH04I070891 70891944 70892762 0.83 [{'connected_gene': 'DCK', 'score': 4.18}, {'connected_gene': 'GC04P070898', 'score': 0.44}, {'connected_gene': 'GC04P070862', 'score': 0.29}]
chr4 GH04I071032 71032224 71032373 0.31 [{'connected_gene': 'DCK', 'score': 0.28}, {'connected_gene': 'GC04M071034', 'score': 0.13}]
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}]