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
ENST00000537561 [[131100514, 131100589], [131100889, 131101159], [131102005, 131102116], [131102187, 131107674]] [[131100889, 131101159], [131102005, 131102116], [131102187, 131102286]]
ENST00000359850 [[131100608, 131100786], [131100889, 131101159], [131102005, 131107674]] [[131100747, 131100786], [131100889, 131101159], [131102005, 131102185]]
ENST00000521288 [[131100617, 131100786], [131100889, 131101159], [131102005, 131107674]] [[131100648, 131100786], [131100889, 131101159], [131102005, 131102185]]
ENST00000502852 [[131100628, 131100786], [131100889, 131102283]] [[131100648, 131100786], [131100889, 131101435]]
NM_001171905 [[131100514, 131100589], [131100889, 131101159], [131102005, 131102116], [131102187, 131107674]] [[131100889, 131101159], [131102005, 131102116], [131102187, 131102286]]
NM_001171906 [[131100608, 131100786], [131100889, 131101641]] [[131100648, 131100786], [131100889, 131101435]]
NM_152395 [[131100608, 131100786], [131100889, 131101159], [131102005, 131107674]] [[131100648, 131100786], [131100889, 131101159], [131102005, 131102185]]
NR_033268 [[131100624, 131101159], [131102005, 131107674]] None
Promoter
Chrom Start End Description
chr3 131100600 131100654 CAGE_peak_1_at_NUDT16_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I131371 131371201 131372199 0.82 [{'connected_gene': 'SNORA58', 'score': 9.72}, {'connected_gene': 'NEK11', 'score': 7.02}, {'connected_gene': 'NUDT16', 'score': 6.68}, {'connected_gene': 'NUDT16P1', 'score': 0.44}, {'connected_gene': 'LOC339874', 'score': 0.44}]
chr3 GH03I131355 131355785 131356847 0.2 [{'connected_gene': 'NUDT16P1', 'score': 7.52}, {'connected_gene': 'NUDT16', 'score': 5.81}, {'connected_gene': 'GC03P131359', 'score': 0.77}, {'connected_gene': 'LOC339874', 'score': 0.31}, {'connected_gene': 'RNU6-726P', 'score': 0.07}, {'connected_gene': 'GC03M131093', 'score': 0.07}]
chr3 GH03I131215 131215973 131218885 0.98 [{'connected_gene': 'NUDT16P1', 'score': 7.39}, {'connected_gene': 'NUDT16', 'score': 4.61}, {'connected_gene': 'RNU6-726P', 'score': 0.13}, {'connected_gene': 'GC03M131093', 'score': 0.13}, {'connected_gene': 'GC03P131359', 'score': 0.11}, {'connected_gene': 'NEK11', 'score': 0.08}]
chr3 GH03I131380 131380240 131382801 2.16 [{'connected_gene': 'NUDT16', 'score': 557.4}, {'connected_gene': 'LOC339874', 'score': 550.77}, {'connected_gene': 'PIK3R4', 'score': 20.43}, {'connected_gene': 'ATP2C1', 'score': 11.33}, {'connected_gene': 'MRPL3', 'score': 10.27}, {'connected_gene': 'ASTE1', 'score': 10.1}]
chr3 GH03I131349 131349507 131350856 0.82 [{'connected_gene': 'NUDT16', 'score': 11.41}, {'connected_gene': 'LOC339874', 'score': 11.41}, {'connected_gene': 'GC03P131359', 'score': 0.44}, {'connected_gene': 'RNU6-726P', 'score': 0.07}, {'connected_gene': 'GC03M131093', 'score': 0.07}, {'connected_gene': 'NEK11', 'score': 0.05}]
chr3 GH03I131385 131385090 131388815 1 [{'connected_gene': 'GC03P131387', 'score': 550.77}, {'connected_gene': 'NUDT16', 'score': 5.5}]