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
ENST00000324436 [[8807750, 8809172]] [[8807800, 8809051]]
NM_178525 [[8807746, 8809180]] [[8807800, 8809051]]
Promoter
Chrom Start End Description
chr19 8809102 8809109 CAGE_peak_3_at_ACTL9_5end
chr19 8809120 8809133 CAGE_peak_2_at_ACTL9_5end
chr19 8809139 8809158 CAGE_peak_1_at_ACTL9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I008637 8637801 8641251 1.37 [{'connected_gene': 'MYO1F', 'score': 31.26}, {'connected_gene': 'ADAMTS10', 'score': 12.1}, {'connected_gene': 'ACTL9', 'score': 11.65}, {'connected_gene': 'PRAM1', 'score': 5.76}, {'connected_gene': 'LOC100128428', 'score': 4.78}, {'connected_gene': 'LINC01862', 'score': 0.44}, {'connected_gene': 'ENSG00000261866', 'score': 0.28}, {'connected_gene': 'GC19P008677', 'score': 0.28}]
chr19 GH19I009043 9043585 9043734 0.46 [{'connected_gene': 'ACTL9', 'score': 11.05}, {'connected_gene': 'MBD3L1', 'score': 10.75}, {'connected_gene': 'TRQ-TTG8-1', 'score': 0.77}, {'connected_gene': 'GC19P009058', 'score': 0.39}]
chr19 GH19I008663 8663816 8665004 0.8 [{'connected_gene': 'ACTL9', 'score': 12.92}, {'connected_gene': 'ADAMTS10', 'score': 11.32}, {'connected_gene': 'ZNF559', 'score': 4.2}, {'connected_gene': 'ENSG00000261866', 'score': 0.39}, {'connected_gene': 'GC19P008677', 'score': 0.39}, {'connected_gene': 'LINC01862', 'score': 0.29}]
chr19 GH19I008665 8665781 8667231 0.46 [{'connected_gene': 'ACTL9', 'score': 12.92}, {'connected_gene': 'ADAMTS10', 'score': 11.31}, {'connected_gene': 'ENSG00000261866', 'score': 0.39}, {'connected_gene': 'GC19P008677', 'score': 0.39}, {'connected_gene': 'LINC01862', 'score': 0.28}]
chr19 GH19I008701 8701579 8702658 0.72 [{'connected_gene': 'ACTL9', 'score': 0.77}, {'connected_gene': 'OR2Z1', 'score': 0.37}]
chr19 GH19I008699 8698785 8698844 0.73 [{'connected_gene': 'ACTL9', 'score': 550.77}, {'connected_gene': 'ENSG00000279426', 'score': 0.77}, {'connected_gene': 'GC19P008695', 'score': 0.77}]
chr19 GH19I008878 8878382 8878565 0.65 [{'connected_gene': 'PIR31457', 'score': 550.77}, {'connected_gene': 'ACTL9', 'score': 14.9}, {'connected_gene': 'MUC16', 'score': 6.4}, {'connected_gene': 'ZNF177', 'score': 1.91}, {'connected_gene': 'OR7G1', 'score': 1.52}, {'connected_gene': 'GC19P008942', 'score': 0.21}]
chr19 GH19I008698 8698231 8698380 0.57 [{'connected_gene': 'ENSG00000279426', 'score': 550.77}, {'connected_gene': 'ACTL9', 'score': 550.77}, {'connected_gene': 'GC19P008695', 'score': 0.77}]