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
ENST00000297324 [[13424351, 13425796]] [[13424500, 13425460]]
NM_001007090 [[13424351, 13425797]] [[13424500, 13425460]]
Promoter
Chrom Start End Description
chr8 13424363 13424417 CAGE_peak_1_at_C8orf48_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I013626 13626728 13627585 0.31 [{'connected_gene': 'C8orf48', 'score': 11.3}, {'connected_gene': 'LOC102725080', 'score': 0.77}, {'connected_gene': 'DLC1', 'score': 0.34}]
chr8 GH08I013548 13548769 13550281 0.4 [{'connected_gene': 'C8orf48', 'score': 5.72}, {'connected_gene': 'RNA5SP255', 'score': 0.39}, {'connected_gene': 'GC08P013528', 'score': 0.34}, {'connected_gene': 'DLC1', 'score': 0.22}]
chr8 GH08I013529 13529739 13531633 0.4 [{'connected_gene': 'C8orf48', 'score': 11.73}, {'connected_gene': 'GC08P013528', 'score': 0.77}, {'connected_gene': 'RNA5SP255', 'score': 0.44}, {'connected_gene': 'DLC1', 'score': 0.19}]
chr8 GH08I013566 13566111 13567361 1.75 [{'connected_gene': 'C8orf48', 'score': 550.77}, {'connected_gene': 'RNA5SP255', 'score': 0.29}, {'connected_gene': 'GC08P013528', 'score': 0.28}, {'connected_gene': 'DLC1', 'score': 0.28}]
chr8 GH08I013576 13576013 13576149 0.2 [{'connected_gene': 'C8orf48', 'score': 0.44}, {'connected_gene': 'LOC100421023', 'score': 0.44}, {'connected_gene': 'DLC1', 'score': 0.31}, {'connected_gene': 'GC08P013528', 'score': 0.25}]
chr8 GH08I013573 13573913 13575822 0.38 [{'connected_gene': 'C8orf48', 'score': 0.44}, {'connected_gene': 'LOC100421023', 'score': 0.44}, {'connected_gene': 'DLC1', 'score': 0.31}, {'connected_gene': 'GC08P013528', 'score': 0.25}]
chr8 GH08I013544 13544126 13545122 0.69 [{'connected_gene': 'DLC1', 'score': 10.95}, {'connected_gene': 'RNA5SP255', 'score': 0.44}, {'connected_gene': 'GC08P013528', 'score': 0.37}, {'connected_gene': 'C8orf48', 'score': 0.34}]
chr8 GH08I013541 13541469 13541481 0.31 [{'connected_gene': 'DLC1', 'score': 12.07}, {'connected_gene': 'RNA5SP255', 'score': 0.44}, {'connected_gene': 'GC08P013528', 'score': 0.39}, {'connected_gene': 'C8orf48', 'score': 0.31}]
chr8 GH08I013535 13535667 13538284 0.8 [{'connected_gene': 'RNA5SP255', 'score': 550.77}, {'connected_gene': 'DLC1', 'score': 12.49}, {'connected_gene': 'C8orf48', 'score': 12.21}, {'connected_gene': 'GC08P013528', 'score': 0.44}]
chr8 GH08I013577 13577807 13579136 0.31 [{'connected_gene': 'LOC100421023', 'score': 0.44}, {'connected_gene': 'C8orf48', 'score': 0.39}, {'connected_gene': 'DLC1', 'score': 0.31}, {'connected_gene': 'GC08P013528', 'score': 0.25}]