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
ENST00000469416 [[40915773, 40915847], [40916327, 40916760], [40919874, 40919960], [40922616, 40923111], [40928092, 40929386]] None
ENST00000484445 [[40915778, 40915847], [40916336, 40916760], [40922616, 40922743], [40923015, 40923111], [40928092, 40929352]] [[40916633, 40916760], [40922616, 40922743], [40923015, 40923111], [40928092, 40928138]]
ENST00000361584 [[40915778, 40915847], [40916336, 40916760], [40922616, 40922743], [40923015, 40923111], [40928092, 40929352]] [[40922709, 40922743], [40923015, 40923111], [40928092, 40929261]]
ENST00000411995 [[40915778, 40915847], [40916327, 40916760], [40919874, 40919960], [40922616, 40922743], [40923015, 40923111], [40928092, 40929390]] [[40916633, 40916760], [40919874, 40919960], [40922616, 40922743], [40923015, 40923111], [40928092, 40929261]]
NM_023070 [[40916336, 40916760], [40919874, 40919960], [40922616, 40922743], [40923015, 40923111], [40928092, 40929390]] [[40916633, 40916760], [40919874, 40919960], [40922616, 40922743], [40923015, 40923111], [40928092, 40929261]]
Promoter
Chrom Start End Description
chr1 40915725 40915808 CAGE_peak_1_at_ZNF643_5end
chr1 40916143 40916164 CAGE_peak_6_at_ZNF643_5end
chr1 40916251 40916260 CAGE_peak_7_at_ZNF643_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I040449 40449333 40451846 2.06 [{'connected_gene': 'ZFP69B', 'score': 550.77}, {'connected_gene': 'ENSG00000284677', 'score': 550.77}, {'connected_gene': 'LOC105378672', 'score': 18.27}, {'connected_gene': 'ZFP69', 'score': 13.66}, {'connected_gene': 'EXO5', 'score': 12.2}, {'connected_gene': 'ENSG00000227278', 'score': 11.64}, {'connected_gene': 'ENSG00000238186', 'score': 11.64}, {'connected_gene': 'ZNF684', 'score': 10.68}, {'connected_gene': 'OXCT2', 'score': 5.5}, {'connected_gene': 'ENSG00000260920', 'score': 0.39}]
chr1 GH01I040413 40413402 40415139 0.84 [{'connected_gene': 'SMAP2', 'score': 21.62}, {'connected_gene': 'ZFP69B', 'score': 12.0}, {'connected_gene': 'COL9A2', 'score': 11.49}, {'connected_gene': 'LOC105378672', 'score': 11.14}, {'connected_gene': 'EXO5', 'score': 11.14}, {'connected_gene': 'ENSG00000231296', 'score': 11.12}, {'connected_gene': 'ZMPSTE24', 'score': 11.12}, {'connected_gene': 'ZFP69', 'score': 10.75}, {'connected_gene': 'RLF', 'score': 10.15}, {'connected_gene': 'HEYL', 'score': 4.33}, {'connected_gene': 'GC01P040432', 'score': 0.37}, {'connected_gene': 'GC01M040364', 'score': 0.25}]
chr1 GH01I040140 40140201 40140518 0.87 [{'connected_gene': 'RLF', 'score': 21.67}, {'connected_gene': 'ZFP69B', 'score': 11.32}, {'connected_gene': 'COL9A2', 'score': 11.22}, {'connected_gene': 'PPT1', 'score': 11.21}, {'connected_gene': 'EXO5', 'score': 11.13}, {'connected_gene': 'ZMPSTE24', 'score': 10.76}, {'connected_gene': 'ENSG00000231296', 'score': 10.76}, {'connected_gene': 'TMCO2', 'score': 10.68}, {'connected_gene': 'PPIE', 'score': 10.42}, {'connected_gene': 'PPIEL', 'score': 9.92}, {'connected_gene': 'CAP1', 'score': 9.42}, {'connected_gene': 'GC01M040138', 'score': 0.77}, {'connected_gene': 'GC01P040133', 'score': 0.44}]
chr1 GH01I040421 40421361 40423821 1.33 [{'connected_gene': 'ZFP69', 'score': 23.78}, {'connected_gene': 'EXO5', 'score': 20.43}, {'connected_gene': 'PPIE', 'score': 15.01}, {'connected_gene': 'ZFP69B', 'score': 12.9}, {'connected_gene': 'SMAP2', 'score': 11.0}, {'connected_gene': 'ENSG00000227278', 'score': 10.72}, {'connected_gene': 'ENSG00000238186', 'score': 10.72}, {'connected_gene': 'LOC105378672', 'score': 10.37}, {'connected_gene': 'GC01P040432', 'score': 0.44}, {'connected_gene': 'GC01M040364', 'score': 0.22}]
chr1 GH01I040488 40488359 40488515 0.22 [{'connected_gene': 'ZNF684', 'score': 12.59}, {'connected_gene': 'ENSG00000227278', 'score': 12.24}, {'connected_gene': 'ENSG00000238186', 'score': 12.24}, {'connected_gene': 'ZFP69B', 'score': 11.67}, {'connected_gene': 'EXO5', 'score': 1.58}, {'connected_gene': 'GC01P040495', 'score': 0.44}, {'connected_gene': 'ZFP69', 'score': 0.39}, {'connected_gene': 'LOC105378672', 'score': 0.34}]
chr1 GH01I040141 40140584 40140923 0.63 [{'connected_gene': 'GC01M040138', 'score': 550.77}, {'connected_gene': 'RLF', 'score': 21.67}, {'connected_gene': 'ZFP69B', 'score': 11.32}, {'connected_gene': 'COL9A2', 'score': 11.22}, {'connected_gene': 'PPT1', 'score': 11.21}, {'connected_gene': 'EXO5', 'score': 11.13}, {'connected_gene': 'ZMPSTE24', 'score': 10.76}, {'connected_gene': 'ENSG00000231296', 'score': 10.76}, {'connected_gene': 'TMCO2', 'score': 10.68}, {'connected_gene': 'PPIE', 'score': 10.42}, {'connected_gene': 'PPIEL', 'score': 9.92}, {'connected_gene': 'CAP1', 'score': 9.42}, {'connected_gene': 'GC01P040133', 'score': 0.44}]