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
ENST00000392653 [[153028588, 153029230], [153029946, 153030013]] [[153028992, 153029211]]
NM_005988 [[153028595, 153029230], [153029946, 153029988]] [[153028992, 153029211]]
Promoter
Chrom Start End Description
chr1 153029980 153029995 CAGE_peak_1_at_SPRR2A_5end
chr1 153085984 153085999 CAGE_peak_1_at_SPRR2F_5end,CAGE_peak_2_at_SPRR2A_5end
chr1 153113940 153113972 CAGE_peak_1_at_SPRR2C_5end,CAGE_peak_2_at_SPRR2D_5end,CAGE_peak_3_at_SPRR2A_5end
chr1 153113974 153113991 CAGE_peak_3_at_SPRR2C_5end,CAGE_peak_4_at_SPRR2D_5end,CAGE_peak_5_at_SPRR2A_5end
chr1 153114001 153114013 CAGE_peak_2_at_SPRR2C_5end,CAGE_peak_3_at_SPRR2D_5end,CAGE_peak_4_at_SPRR2A_5end
chr1 153114023 153114029 CAGE_peak_4_at_SPRR2C_5end,CAGE_peak_5_at_SPRR2D_5end,CAGE_peak_6_at_SPRR2A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I153070 153070741 153070800 0.5 [{'connected_gene': 'SPRR2B', 'score': 550.77}, {'connected_gene': 'SPRR2A', 'score': 0.39}]
chr1 GH01I153057 153057502 153057561 0.61 [{'connected_gene': 'SPRR2A', 'score': 550.77}, {'connected_gene': 'SPRR1B', 'score': 10.67}, {'connected_gene': 'SPRR1A', 'score': 10.3}, {'connected_gene': 'SPRR2G', 'score': 9.79}, {'connected_gene': 'GC01P153042', 'score': 0.37}]