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
ENST00000389594 [[66953071, 66953270], [66953374, 66953527], [66954877, 66954974], [66955704, 66955755], [66957459, 66957537], [66957738, 66957822], [66958324, 66958403], [66958770, 66958912], [66964826, 66964885], [66965070, 66965270]] None
ENST00000359454 [[66953088, 66953270], [66953374, 66953527], [66954877, 66954974], [66955704, 66955755], [66957459, 66957537], [66958324, 66958403], [66958770, 66958912], [66963544, 66963585], [66964826, 66964885], [66965070, 66965271]] None
ENST00000411796 [[66953108, 66953270], [66953374, 66953527], [66954877, 66954974], [66955704, 66955755], [66957459, 66957537], [66958343, 66958403], [66958770, 66958912], [66959529, 66959618], [66963544, 66963585], [66964826, 66964885], [66965070, 66965270]] None
ENST00000450299 [[66953124, 66953270], [66954877, 66954974], [66955704, 66955755], [66957459, 66957537], [66958343, 66958403], [66958770, 66958912], [66963544, 66963585], [66964826, 66964885], [66965070, 66965118]] None
ENST00000432289 [[66953384, 66953527], [66954877, 66954974], [66963544, 66963585], [66964826, 66964885], [66965070, 66965271]] None
ENST00000436570 [[66963400, 66963585], [66964826, 66964885], [66965070, 66965271]] None
Promoter
Chrom Start End Description
chr14 66953098 66953109 CAGE_peak_2_at_LINC00238_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I066444 66444451 66445087 0.2 [{'connected_gene': 'ATP6V1D', 'score': 11.82}, {'connected_gene': 'CCDC196', 'score': 0.29}, {'connected_gene': 'GPHN', 'score': 0.21}, {'connected_gene': 'ENSG00000258561', 'score': 0.21}]
chr14 GH14I066379 66379183 66379332 0.43 [{'connected_gene': 'ATP6V1D', 'score': 11.72}, {'connected_gene': 'CCDC196', 'score': 0.29}, {'connected_gene': 'ENSG00000258561', 'score': 0.12}, {'connected_gene': 'GC14P066230', 'score': 0.11}]
chr14 GH14I066483 66483483 66483632 0.67 [{'connected_gene': 'ATP6V1D', 'score': 12.6}, {'connected_gene': 'GPHN', 'score': 12.27}, {'connected_gene': 'ENSG00000258561', 'score': 0.31}, {'connected_gene': 'CCDC196', 'score': 0.19}]
chr14 GH14I066359 66359543 66359692 0.6 [{'connected_gene': 'CCDC196', 'score': 0.23}, {'connected_gene': 'GC14P066230', 'score': 0.13}, {'connected_gene': 'ENSG00000258561', 'score': 0.11}]
chr14 GH14I066395 66395423 66395552 0.46 [{'connected_gene': 'GPHN', 'score': 9.61}, {'connected_gene': 'CCDC196', 'score': 0.37}, {'connected_gene': 'ENSG00000258561', 'score': 0.14}, {'connected_gene': 'GC14P066230', 'score': 0.1}]
chr14 GH14I066389 66389850 66390100 0.22 [{'connected_gene': 'GPHN', 'score': 2.49}, {'connected_gene': 'CCDC196', 'score': 0.34}, {'connected_gene': 'ENSG00000258561', 'score': 0.13}, {'connected_gene': 'GC14P066230', 'score': 0.1}]
chr14 GH14I066503 66503563 66503712 0.57 [{'connected_gene': 'GPHN', 'score': 0.77}, {'connected_gene': 'ENSG00000258561', 'score': 0.44}, {'connected_gene': 'CCDC196', 'score': 0.16}]
chr14 GH14I066495 66495603 66495752 0.67 [{'connected_gene': 'GPHN', 'score': 0.39}, {'connected_gene': 'ENSG00000258561', 'score': 0.39}, {'connected_gene': 'CCDC196', 'score': 0.18}]