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
ENST00000274026 [[122737598, 122738841], [122739198, 122739332], [122739954, 122740068], [122740526, 122740734], [122741696, 122741920], [122742133, 122742246], [122743557, 122743801], [122744570, 122745087]] [[122738792, 122738841], [122739198, 122739332], [122739954, 122740068], [122740526, 122740734], [122741696, 122741920], [122742133, 122742246], [122743557, 122743801], [122744570, 122744783]]
NM_001237 [[122737598, 122738841], [122739198, 122739332], [122739954, 122740068], [122740526, 122740734], [122741696, 122741920], [122742133, 122742246], [122743557, 122743801], [122744570, 122745156]] [[122738792, 122738841], [122739198, 122739332], [122739954, 122740068], [122740526, 122740734], [122741696, 122741920], [122742133, 122742246], [122743557, 122743801], [122744570, 122744783]]
Promoter
Chrom Start End Description
chr4 122744998 122745093 CAGE_peak_1_at_CCNA2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I121821 121821650 121824689 2.05 [{'connected_gene': 'CCNA2', 'score': 550.77}, {'connected_gene': 'EXOSC9', 'score': 40.56}, {'connected_gene': 'BBS7', 'score': 13.42}, {'connected_gene': 'ENSG00000237868', 'score': 9.69}]
chr4 GH04I122763 122762801 122766809 1.63 [{'connected_gene': 'CETN4P', 'score': 20.75}, {'connected_gene': 'FGF2', 'score': 15.11}, {'connected_gene': 'BBS12', 'score': 11.21}, {'connected_gene': 'SPATA5', 'score': 10.91}, {'connected_gene': 'NUDT6', 'score': 10.91}, {'connected_gene': 'CCNA2', 'score': 4.59}, {'connected_gene': 'LOC727709', 'score': 0.31}, {'connected_gene': 'RPL34P12', 'score': 0.23}]
chr4 GH04I121869 121869366 121871200 1.95 [{'connected_gene': 'BBS7', 'score': 563.07}, {'connected_gene': 'ENSG00000261501', 'score': 550.77}, {'connected_gene': 'CCNA2', 'score': 0.25}]
chr4 GH04I121788 121788921 121792217 1.15 [{'connected_gene': 'TMEM155', 'score': 24.1}, {'connected_gene': 'PP12613', 'score': 11.96}, {'connected_gene': 'CCNA2', 'score': 11.51}, {'connected_gene': 'BBS7', 'score': 11.38}, {'connected_gene': 'EXOSC9', 'score': 6.22}]
chr4 GH04I121794 121794559 121797022 1.15 [{'connected_gene': 'TMEM155', 'score': 11.68}, {'connected_gene': 'PP12613', 'score': 11.67}, {'connected_gene': 'CCNA2', 'score': 11.53}, {'connected_gene': 'BBS7', 'score': 11.43}, {'connected_gene': 'EXOSC9', 'score': 6.45}]