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
ENST00000435676 [[166026673, 166029900], [166039068, 166040000], [166135222, 166135462]] [[166039477, 166040000], [166135222, 166135462]]
ENST00000456900 [[166028925, 166029900], [166039071, 166040000], [166135222, 166135618]] [[166039477, 166040000], [166135222, 166135485]]
ENST00000441649 [[166029137, 166029900], [166038748, 166040000], [166135222, 166135471]] [[166039477, 166040000], [166135222, 166135471]]
ENST00000354422 [[166039255, 166040000], [166135222, 166135952]] [[166039477, 166040000], [166135222, 166135485]]
ENST00000338353 [[166039256, 166040000], [166135222, 166135956], [166136087, 166136206]] [[166039477, 166040000], [166135222, 166135485]]
NR_135199 [[166025154, 166029900], [166039068, 166040000], [166135222, 166135992]] None
NM_001320302 [[166025154, 166029900], [166135222, 166135992]] [[166029845, 166029900], [166135222, 166135485]]
NM_001017961 [[166038535, 166040000], [166135222, 166135992]] [[166039477, 166040000], [166135222, 166135485]]
Promoter
Chrom Start End Description
chr1 166135970 166136001 CAGE_peak_2_at_FAM78B_5end
chr1 166136036 166136047 CAGE_peak_4_at_FAM78B_5end
chr1 166136187 166136207 CAGE_peak_3_at_FAM78B_5end
chr1 166136210 166136243 CAGE_peak_1_at_FAM78B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I167160 167160964 167163761 1.34 [{'connected_gene': 'RPS17P6', 'score': 550.77}, {'connected_gene': 'FAM78B', 'score': 10.48}, {'connected_gene': 'TADA1', 'score': 9.76}, {'connected_gene': 'GC01P167158', 'score': 0.77}, {'connected_gene': 'GPA33', 'score': 0.77}]
chr1 GH01I166170 166170864 166171013 0.2 [{'connected_gene': 'FAM78B', 'score': 0.77}, {'connected_gene': 'LOC284685', 'score': 0.14}]
chr1 GH01I166166 166166200 166167654 1.85 [{'connected_gene': 'FAM78B', 'score': 550.77}, {'connected_gene': 'ENSG00000230898', 'score': 550.77}]
chr1 GH01I166185 166185144 166185293 0.2 [{'connected_gene': 'MIR921', 'score': 10.37}, {'connected_gene': 'FAM78B', 'score': 0.37}, {'connected_gene': 'LOC284685', 'score': 0.16}]
chr1 GH01I166133 166133599 166133676 0.47 [{'connected_gene': 'PIR48757', 'score': 0.44}, {'connected_gene': 'MIR921', 'score': 0.34}, {'connected_gene': 'FAM78B', 'score': 0.29}]