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
ENST00000222033 [[5455425, 5456867]] [[5455502, 5456792]]
NM_181710 [[5455425, 5456867]] [[5455502, 5456792]]
Promoter
Chrom Start End Description
chr19 5455421 5455447 CAGE_peak_1_at_ZNRF4_5end
chr19 5455453 5455482 CAGE_peak_2_at_ZNRF4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I005112 5112159 5114447 0.63 [{'connected_gene': 'SAFB2', 'score': 19.59}, {'connected_gene': 'ENSG00000267030', 'score': 12.25}, {'connected_gene': 'HDGFL2', 'score': 11.48}, {'connected_gene': 'KDM4B', 'score': 11.04}, {'connected_gene': 'PLIN3', 'score': 10.5}, {'connected_gene': 'RANBP3', 'score': 10.36}, {'connected_gene': 'ZNRF4', 'score': 10.24}, {'connected_gene': 'UHRF1', 'score': 4.72}, {'connected_gene': 'GC19P005127', 'score': 0.39}, {'connected_gene': 'GC19P005074', 'score': 0.28}]
chr19 GH19I005351 5351690 5352739 0.79 [{'connected_gene': 'SH3GL1', 'score': 13.66}, {'connected_gene': 'ENSG00000267255', 'score': 12.95}, {'connected_gene': 'ZNRF4', 'score': 11.0}, {'connected_gene': 'VMAC', 'score': 10.75}, {'connected_gene': 'RPL36', 'score': 10.64}, {'connected_gene': 'ENSG00000267571', 'score': 10.62}, {'connected_gene': 'SAFB2', 'score': 10.15}, {'connected_gene': 'DUS3L', 'score': 10.03}, {'connected_gene': 'HSD11B1L', 'score': 9.73}, {'connected_gene': 'PTPRS', 'score': 0.39}, {'connected_gene': 'GC19P005411', 'score': 0.22}]
chr19 GH19I005313 5313390 5313539 0.59 [{'connected_gene': 'PTPRS', 'score': 19.88}, {'connected_gene': 'ZNRF4', 'score': 10.58}, {'connected_gene': 'LOC105372252', 'score': 0.34}, {'connected_gene': 'LOC105372253', 'score': 0.34}]
chr19 GH19I005308 5308354 5309999 1.22 [{'connected_gene': 'DUS3L', 'score': 89.04}, {'connected_gene': 'ENSG00000267030', 'score': 71.9}, {'connected_gene': 'ENSG00000267571', 'score': 55.82}, {'connected_gene': 'PTPRS', 'score': 48.52}, {'connected_gene': 'SAFB', 'score': 46.09}, {'connected_gene': 'VMAC', 'score': 45.44}, {'connected_gene': 'SAFB2', 'score': 42.66}, {'connected_gene': 'ENSG00000267255', 'score': 38.9}, {'connected_gene': 'RANBP3', 'score': 37.24}, {'connected_gene': 'ENSG00000267769', 'score': 37.14}, {'connected_gene': 'KDM4B', 'score': 31.52}, {'connected_gene': 'SH3GL1', 'score': 30.35}, {'connected_gene': 'DPP9-AS1', 'score': 23.89}, {'connected_gene': 'SNRPEP4', 'score': 23.01}, {'connected_gene': 'ENSG00000269807', 'score': 11.12}, {'connected_gene': 'RPL36', 'score': 10.64}, {'connected_gene': 'ZNRF4', 'score': 10.24}, {'connected_gene': 'HDGFL2', 'score': 9.82}, {'connected_gene': 'LOC105372253', 'score': 0.37}, {'connected_gene': 'LOC105372252', 'score': 0.31}]
chr19 GH19I005434 5434451 5437369 1.15 [{'connected_gene': 'DUS3L', 'score': 22.43}, {'connected_gene': 'SNRPEP4', 'score': 14.43}, {'connected_gene': 'KHSRP', 'score': 14.16}, {'connected_gene': 'VMAC', 'score': 10.77}, {'connected_gene': 'RPL36', 'score': 10.66}, {'connected_gene': 'ENSG00000267571', 'score': 10.64}, {'connected_gene': 'ZNRF4', 'score': 0.37}, {'connected_gene': 'GC19P005411', 'score': 0.31}]
chr19 GH19I005115 5115970 5116119 0.74 [{'connected_gene': 'KDM4B', 'score': 11.47}, {'connected_gene': 'PLIN3', 'score': 10.5}, {'connected_gene': 'ZNRF4', 'score': 10.24}, {'connected_gene': 'GC19P005127', 'score': 0.39}, {'connected_gene': 'GC19P005074', 'score': 0.26}]
chr19 GH19I005116 5115370 5115519 0.51 [{'connected_gene': 'KDM4B', 'score': 11.05}, {'connected_gene': 'PLIN3', 'score': 10.5}, {'connected_gene': 'ZNRF4', 'score': 10.24}, {'connected_gene': 'GC19P005127', 'score': 0.39}, {'connected_gene': 'GC19P005074', 'score': 0.26}]
chr19 GH19I005484 5484334 5485093 0.84 [{'connected_gene': 'ZNRF4', 'score': 12.83}, {'connected_gene': 'PTPRS', 'score': 11.34}, {'connected_gene': 'GC19M005474', 'score': 0.44}, {'connected_gene': 'GC19M005512', 'score': 0.29}]
chr19 GH19I005398 5398470 5398553 0.49 [{'connected_gene': 'ZNRF4', 'score': 12.31}, {'connected_gene': 'PTPRS', 'score': 11.8}, {'connected_gene': 'GC19P005411', 'score': 0.39}]
chr19 GH19I005155 5155230 5156904 0.43 [{'connected_gene': 'ZNRF4', 'score': 10.14}, {'connected_gene': 'MYDGF', 'score': 5.83}, {'connected_gene': 'PIR36975', 'score': 0.39}, {'connected_gene': 'GC19P005167', 'score': 0.39}]
chr19 GH19I005078 5078330 5078439 0.72 [{'connected_gene': 'ZNRF4', 'score': 10.41}, {'connected_gene': 'GC19P005074', 'score': 0.77}, {'connected_gene': 'GC19P005127', 'score': 0.25}, {'connected_gene': 'KDM4B', 'score': 0.14}]
chr19 GH19I005079 5079026 5082066 0.52 [{'connected_gene': 'ZNRF4', 'score': 10.41}, {'connected_gene': 'GC19P005074', 'score': 0.44}, {'connected_gene': 'GC19P005127', 'score': 0.25}, {'connected_gene': 'KDM4B', 'score': 0.14}]
chr19 GH19I005547 5547990 5548139 0.62 [{'connected_gene': 'ZNRF4', 'score': 11.64}, {'connected_gene': 'GC19M005554', 'score': 0.39}, {'connected_gene': 'GC19M005514', 'score': 0.29}]
chr19 GH19I005499 5499250 5499399 0.49 [{'connected_gene': 'ZNRF4', 'score': 12.27}, {'connected_gene': 'GC19M005512', 'score': 0.37}, {'connected_gene': 'GC19M005474', 'score': 0.34}]
chr19 GH19I005455 5455377 5455436 0.5 [{'connected_gene': 'ZNRF4', 'score': 550.77}, {'connected_gene': 'GC19P005411', 'score': 0.25}]
chr19 GH19I005466 5466367 5467679 0.62 [{'connected_gene': 'ZNRF4', 'score': 0.39}, {'connected_gene': 'GC19M005474', 'score': 0.39}]
chr19 GH19I005045 5045751 5050224 1.34 [{'connected_gene': 'PLIN3', 'score': 11.22}, {'connected_gene': 'PTPRS', 'score': 10.64}, {'connected_gene': 'ZNRF4', 'score': 10.28}, {'connected_gene': 'UHRF1', 'score': 5.5}, {'connected_gene': 'GC19P005074', 'score': 0.31}, {'connected_gene': 'GC19M004987', 'score': 0.22}, {'connected_gene': 'KDM4B', 'score': 0.18}]
chr19 GH19I005470 5470390 5470559 0.81 [{'connected_gene': 'GC19M005474', 'score': 0.44}, {'connected_gene': 'ZNRF4', 'score': 0.37}]