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
ENST00000522317 [[140613080, 140613844], [140623579, 140624917], [140630500, 140631342], [140714952, 140715284]] [[140630500, 140631342], [140714952, 140715235]]
ENST00000303015 [[140624803, 140624917], [140630500, 140631342], [140714952, 140715299]] [[140630500, 140631342], [140714952, 140715235]]
ENST00000520439 [[140630248, 140631342], [140714952, 140715299]] [[140630500, 140631342], [140714952, 140715235]]
ENST00000523477 [[140613081, 140613844], [140623579, 140624917], [140628628, 140629248]] None
ENST00000523653 [[140613320, 140613844], [140614255, 140614307]] None
ENST00000519923 [[140624568, 140624917], [140628056, 140628290]] None
NR_104210 [[140613080, 140613844], [140623579, 140624917], [140630500, 140631342], [140714952, 140715299]] None
NM_001282534 [[140629363, 140631342], [140714952, 140715299]] [[140630500, 140631342], [140714952, 140715235]]
Promoter
Chrom Start End Description
chr8 140614315 140614330 CAGE_peak_2_at_KCNK9_5end
chr8 140614358 140614378 CAGE_peak_1_at_KCNK9_5end
chr8 140715294 140715304 CAGE_peak_4_at_KCNK9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I140118 140118639 140119601 0.63 [{'connected_gene': 'KCNK9', 'score': 10.5}, {'connected_gene': 'GC08M140101', 'score': 0.37}, {'connected_gene': 'GC08P140241', 'score': 0.13}, {'connected_gene': 'TRAPPC9', 'score': 0.05}]
chr8 GH08I139784 139784419 139785774 0.6 [{'connected_gene': 'KCNK9', 'score': 10.9}, {'connected_gene': 'PIR41566', 'score': 0.44}, {'connected_gene': 'GC08P139797', 'score': 0.39}, {'connected_gene': 'TRAPPC9', 'score': 0.03}]
chr8 GH08I140213 140213370 140214366 0.43 [{'connected_gene': 'KCNK9', 'score': 10.2}, {'connected_gene': 'GC08P140241', 'score': 0.31}, {'connected_gene': 'GC08M140101', 'score': 0.14}, {'connected_gene': 'TRAPPC9', 'score': 0.07}]
chr8 GH08I140150 140150801 140151400 0.63 [{'connected_gene': 'KCNK9', 'score': 11.04}, {'connected_gene': 'GC08M140101', 'score': 0.25}, {'connected_gene': 'GC08P140241', 'score': 0.16}, {'connected_gene': 'TRAPPC9', 'score': 0.06}]
chr8 GH08I139841 139841500 139842966 1.01 [{'connected_gene': 'KCNK9', 'score': 10.46}, {'connected_gene': 'GC08P139797', 'score': 0.26}, {'connected_gene': 'LOC105375781', 'score': 0.2}, {'connected_gene': 'TRAPPC9', 'score': 0.03}]
chr8 GH08I139697 139697960 139698334 0.23 [{'connected_gene': 'KCNK9', 'score': 11.57}, {'connected_gene': 'LOC105375777', 'score': 0.77}, {'connected_gene': 'GC08M139662', 'score': 0.39}]
chr8 GH08I140152 140152791 140154989 0.84 [{'connected_gene': 'KCNK9', 'score': 10.63}, {'connected_gene': 'C8orf17', 'score': 10.11}, {'connected_gene': 'GC08M140101', 'score': 0.23}, {'connected_gene': 'GC08P140241', 'score': 0.17}, {'connected_gene': 'TRAPPC9', 'score': 0.06}]
chr8 GH08I139720 139720201 139720401 0.9 [{'connected_gene': 'KCNK9', 'score': 0.37}, {'connected_gene': 'GC08P139745', 'score': 0.31}]
chr8 GH08I140098 140098062 140099888 1.63 [{'connected_gene': 'PEG13', 'score': 550.77}, {'connected_gene': 'KCNK9', 'score': 16.55}, {'connected_gene': 'TRAPPC9', 'score': 1.68}, {'connected_gene': 'GC08P140091', 'score': 0.44}]
chr8 GH08I139703 139703104 139703163 0.73 [{'connected_gene': 'LOC105375777', 'score': 550.77}, {'connected_gene': 'KCNK9', 'score': 550.77}, {'connected_gene': 'GC08P139745', 'score': 0.26}]
chr8 GH08I139705 139705800 139706201 1.44 [{'connected_gene': 'LOC105375777', 'score': 0.77}, {'connected_gene': 'KCNK9', 'score': 0.77}, {'connected_gene': 'GC08P139745', 'score': 0.28}]
chr8 GH08I139706 139706698 139706847 0.52 [{'connected_gene': 'LOC105375777', 'score': 0.77}, {'connected_gene': 'KCNK9', 'score': 0.77}, {'connected_gene': 'GC08P139745', 'score': 0.28}]
chr8 GH08I140105 140105525 140107335 0.65 [{'connected_gene': 'C8orf17', 'score': 10.39}, {'connected_gene': 'KCNK9', 'score': 10.28}, {'connected_gene': 'GC08M140101', 'score': 0.77}, {'connected_gene': 'GC08P140241', 'score': 0.12}, {'connected_gene': 'TRAPPC9', 'score': 0.05}]
chr8 GH08I140108 140108600 140108801 0.38 [{'connected_gene': 'C8orf17', 'score': 10.39}, {'connected_gene': 'KCNK9', 'score': 10.28}, {'connected_gene': 'GC08M140101', 'score': 0.44}, {'connected_gene': 'GC08P140241', 'score': 0.12}, {'connected_gene': 'TRAPPC9', 'score': 0.05}]
chr8 GH08I139969 139969308 139973344 0.73 [{'connected_gene': 'C8orf17', 'score': 11.51}, {'connected_gene': 'KCNK9', 'score': 10.18}, {'connected_gene': 'GC08P140000', 'score': 0.31}, {'connected_gene': 'TRAPPC9', 'score': 0.04}]
chr8 GH08I139738 139737618 139737747 0.2 [{'connected_gene': 'GC08P139745', 'score': 0.44}, {'connected_gene': 'KCNK9', 'score': 0.29}, {'connected_gene': 'TRAPPC9', 'score': 0.03}]
chr8 GH08I140091 140090727 140091111 0.31 [{'connected_gene': 'GC08P140091', 'score': 550.77}, {'connected_gene': 'KCNK9', 'score': 10.8}, {'connected_gene': 'PIR39979', 'score': 0.39}, {'connected_gene': 'TRAPPC9', 'score': 0.05}]
chr8 GH08I140090 140090462 140090651 0.38 [{'connected_gene': 'GC08P140091', 'score': 550.77}, {'connected_gene': 'KCNK9', 'score': 10.8}, {'connected_gene': 'PIR39979', 'score': 0.39}, {'connected_gene': 'TRAPPC9', 'score': 0.05}]
chr8 GH08I139737 139737060 139737152 0.25 [{'connected_gene': 'GC08P139745', 'score': 0.44}, {'connected_gene': 'KCNK9', 'score': 0.29}, {'connected_gene': 'TRAPPC9', 'score': 0.03}]
chr8 GH08I140092 140092074 140092218 0.24 [{'connected_gene': 'GC08P140091', 'score': 550.77}, {'connected_gene': 'KCNK9', 'score': 10.8}, {'connected_gene': 'PEG13', 'score': 0.44}, {'connected_gene': 'TRAPPC9', 'score': 0.05}]
chr8 GH08I140045 140045955 140049756 1.3 [{'connected_gene': 'PIR39366', 'score': 550.77}, {'connected_gene': 'KCNK9', 'score': 1.92}, {'connected_gene': 'LOC100421256', 'score': 0.44}, {'connected_gene': 'TRAPPC9', 'score': 0.05}]