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
ENST00000368921 [[151030233, 151033029], [151039694, 151040970]] [[151039700, 151039973]]
NM_006818 [[151032150, 151033029], [151039694, 151040973]] [[151039700, 151039973]]
Promoter
Chrom Start End Description
chr1 151030388 151030419 CAGE_peak_9_at_MLLT11_5end
chr1 151030536 151030549 CAGE_peak_8_at_MLLT11_5end
chr1 151032142 151032195 CAGE_peak_5_at_MLLT11_5end
chr1 151032739 151032748 CAGE_peak_6_at_MLLT11_5end
chr1 151032782 151032801 CAGE_peak_4_at_MLLT11_5end
chr1 151032833 151032850 CAGE_peak_3_at_MLLT11_5end
chr1 151032860 151032918 CAGE_peak_1_at_MLLT11_5end
chr1 151032922 151032951 CAGE_peak_2_at_MLLT11_5end
chr1 151032957 151032968 CAGE_peak_7_at_MLLT11_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I150602 150602878 150606941 1.82 [{'connected_gene': 'HORMAD1', 'score': 24.46}, {'connected_gene': 'PRPF3', 'score': 22.48}, {'connected_gene': 'MCL1', 'score': 13.04}, {'connected_gene': 'CTSS', 'score': 7.73}, {'connected_gene': 'PLEKHO1', 'score': 7.3}, {'connected_gene': 'MLLT11', 'score': 4.35}, {'connected_gene': 'CDC42SE1', 'score': 2.8}, {'connected_gene': 'MINDY1', 'score': 1.37}, {'connected_gene': 'ENSG00000253047', 'score': 0.77}, {'connected_gene': 'ENSG00000276103', 'score': 0.77}, {'connected_gene': 'ENSA', 'score': 0.34}]
chr1 GH01I151002 151002366 151003022 0.4 [{'connected_gene': 'CDC42SE1', 'score': 16.68}, {'connected_gene': 'CERS2', 'score': 11.29}, {'connected_gene': 'SEMA6C', 'score': 11.27}, {'connected_gene': 'MLLT11', 'score': 11.17}, {'connected_gene': 'BNIPL', 'score': 11.11}, {'connected_gene': 'C1orf56', 'score': 11.06}, {'connected_gene': 'ENSG00000231073', 'score': 10.99}, {'connected_gene': 'MINDY1', 'score': 0.44}, {'connected_gene': 'ANXA9', 'score': 0.34}]
chr1 GH01I151064 151064601 151064800 0.4 [{'connected_gene': 'CDC42SE1', 'score': 0.44}, {'connected_gene': 'MLLT11', 'score': 0.44}]
chr1 GH01I151051 151051433 151053356 0.88 [{'connected_gene': 'C1orf56', 'score': 0.77}, {'connected_gene': 'MLLT11', 'score': 0.44}, {'connected_gene': 'CDC42SE1', 'score': 0.37}]
chr1 GH01I151047 151047105 151049214 2.15 [{'connected_gene': 'C1orf56', 'score': 550.77}, {'connected_gene': 'SEMA6C', 'score': 12.08}, {'connected_gene': 'CTSS', 'score': 4.54}, {'connected_gene': 'MLLT11', 'score': 0.44}, {'connected_gene': 'BNIPL', 'score': 0.39}]
chr1 GH01I151054 151054067 151063940 2.53 [{'connected_gene': 'MLLT11', 'score': 550.77}, {'connected_gene': 'CDC42SE1', 'score': 550.39}, {'connected_gene': 'SETDB1', 'score': 79.74}, {'connected_gene': 'PRPF3', 'score': 70.84}, {'connected_gene': 'ARNT', 'score': 56.35}, {'connected_gene': 'PI4KB', 'score': 54.9}, {'connected_gene': 'ZNF687', 'score': 51.93}, {'connected_gene': 'GABPB2', 'score': 51.68}, {'connected_gene': 'PIP5K1A', 'score': 51.53}, {'connected_gene': 'UBE2D3P3', 'score': 49.88}, {'connected_gene': 'GOLPH3L', 'score': 39.46}, {'connected_gene': 'CTSK', 'score': 35.96}, {'connected_gene': 'MRPL9', 'score': 28.66}, {'connected_gene': 'BNIPL', 'score': 24.37}, {'connected_gene': 'PSMB4', 'score': 18.2}, {'connected_gene': 'RN7SL444P', 'score': 18.17}, {'connected_gene': 'RPS10P6', 'score': 11.81}, {'connected_gene': 'FALEC', 'score': 11.44}, {'connected_gene': 'RPRD2', 'score': 10.95}, {'connected_gene': 'ENSG00000229021', 'score': 9.93}, {'connected_gene': 'APH1A', 'score': 9.86}, {'connected_gene': 'PSMD4', 'score': 5.6}, {'connected_gene': 'ECM1', 'score': 3.97}]
chr1 GH01I151986 151986391 152002574 2.84 [{'connected_gene': 'ENSG00000229021', 'score': 570.66}, {'connected_gene': 'S100A10', 'score': 556.65}, {'connected_gene': 'THEM4', 'score': 30.06}, {'connected_gene': 'S100A11', 'score': 11.77}, {'connected_gene': 'THEM5', 'score': 10.35}, {'connected_gene': 'FLG-AS1', 'score': 4.3}, {'connected_gene': 'MLLT11', 'score': 3.85}, {'connected_gene': 'LOC105371441', 'score': 0.44}]