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
ENST00000376504 [[23481255, 23482243], [23482632, 23483181]] [[23481459, 23482243], [23482632, 23482835]]
NM_178161 [[23481459, 23482243], [23482632, 23483181]] [[23481459, 23482243], [23482632, 23482835]]
Promoter
Chrom Start End Description
chr10 23481233 23481249 CAGE_peak_1_at_PTF1A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I023194 23194517 23195632 0.46 [{'connected_gene': 'BMI1', 'score': 5.32}, {'connected_gene': 'PTF1A', 'score': 0.77}, {'connected_gene': 'ENSG00000227537', 'score': 0.21}]
chr10 GH10I023202 23202896 23203192 0.51 [{'connected_gene': 'PTF1A', 'score': 0.39}, {'connected_gene': 'ENSG00000227537', 'score': 0.22}, {'connected_gene': 'C10orf67', 'score': 0.11}]
chr10 GH10I023191 23191244 23192226 0.54 [{'connected_gene': 'PTF1A', 'score': 550.77}, {'connected_gene': 'LOC105376453', 'score': 7.27}, {'connected_gene': 'ENSG00000252049', 'score': 0.34}]
chr10 GH10I023199 23199972 23200121 0.58 [{'connected_gene': 'PTF1A', 'score': 0.44}, {'connected_gene': 'ENSG00000227537', 'score': 0.22}]
chr10 GH10I023197 23197621 23197912 0.46 [{'connected_gene': 'PTF1A', 'score': 0.44}, {'connected_gene': 'ENSG00000227537', 'score': 0.21}]
chr10 GH10I023188 23188569 23188860 0.31 [{'connected_gene': 'PTF1A', 'score': 0.77}, {'connected_gene': 'ENSG00000252049', 'score': 0.34}]
chr10 GH10I023198 23198411 23198678 0.51 [{'connected_gene': 'PTF1A', 'score': 0.44}, {'connected_gene': 'ENSG00000227537', 'score': 0.22}]
chr10 GH10I023192 23192305 23192364 1.07 [{'connected_gene': 'PTF1A', 'score': 550.77}, {'connected_gene': 'ENSG00000227537', 'score': 0.2}]
chr10 GH10I023193 23192532 23192681 0.85 [{'connected_gene': 'PTF1A', 'score': 550.77}, {'connected_gene': 'ENSG00000227537', 'score': 0.2}]
chr10 GH10I023201 23201909 23202579 0.31 [{'connected_gene': 'LOC105376453', 'score': 5.01}, {'connected_gene': 'PTF1A', 'score': 0.44}, {'connected_gene': 'ENSG00000227537', 'score': 0.22}, {'connected_gene': 'C10orf67', 'score': 0.11}]
chr10 GH10I023205 23205894 23206319 0.4 [{'connected_gene': 'ENSG00000227537', 'score': 11.09}, {'connected_gene': 'BMI1', 'score': 4.99}, {'connected_gene': 'PTF1A', 'score': 0.39}, {'connected_gene': 'C10orf67', 'score': 0.12}]
chr10 GH10I023206 23206495 23206693 0.4 [{'connected_gene': 'ENSG00000227537', 'score': 11.09}, {'connected_gene': 'PTF1A', 'score': 0.39}, {'connected_gene': 'C10orf67', 'score': 0.12}]
chr10 GH10I023279 23279897 23281432 0.75 [{'connected_gene': 'GC10P023291', 'score': 550.77}, {'connected_gene': 'GC10P023289', 'score': 550.77}, {'connected_gene': 'GC10P023281', 'score': 550.77}, {'connected_gene': 'GC10P023282', 'score': 550.77}, {'connected_gene': 'GC10P023280', 'score': 550.77}, {'connected_gene': 'GC10P023283', 'score': 550.77}, {'connected_gene': 'GC10P023285', 'score': 550.77}, {'connected_gene': 'GC10P023292', 'score': 550.77}, {'connected_gene': 'GC10P023279', 'score': 550.77}, {'connected_gene': 'GC10P023284', 'score': 550.77}, {'connected_gene': 'GC10P023290', 'score': 550.77}, {'connected_gene': 'ENSG00000227537', 'score': 12.73}, {'connected_gene': 'PTF1A', 'score': 11.5}, {'connected_gene': 'ENSG00000252049', 'score': 11.15}, {'connected_gene': 'C10orf67', 'score': 7.07}, {'connected_gene': 'GC10P023294', 'score': 0.39}]
chr10 GH10I023173 23173231 23175530 0.62 [{'connected_gene': 'ENSG00000252049', 'score': 0.44}, {'connected_gene': 'PTF1A', 'score': 0.37}]
chr10 GH10I023186 23186266 23187380 1.03 [{'connected_gene': 'ENSG00000227537', 'score': 10.95}, {'connected_gene': 'PTF1A', 'score': 0.44}, {'connected_gene': 'ENSG00000252049', 'score': 0.37}]