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
ENST00000248073 [[14909957, 14911023]] [[14909985, 14910948]]
NM_198944 [[14909985, 14910948]] [[14909985, 14910948]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I014782 14782858 14786862 1.52 [{'connected_gene': 'DCAF15', 'score': 29.08}, {'connected_gene': 'DDX39A', 'score': 24.45}, {'connected_gene': 'RFX1', 'score': 20.55}, {'connected_gene': 'ADGRE2', 'score': 19.87}, {'connected_gene': 'AKAP8', 'score': 16.14}, {'connected_gene': 'BRD4', 'score': 12.47}, {'connected_gene': 'OR7C1', 'score': 12.23}, {'connected_gene': 'ADGRE5', 'score': 9.32}, {'connected_gene': 'ZNF333', 'score': 8.05}, {'connected_gene': 'ADGRE3', 'score': 6.93}, {'connected_gene': 'OR7A5', 'score': 5.82}, {'connected_gene': 'PKN1', 'score': 5.61}, {'connected_gene': 'DNAJB1', 'score': 2.2}, {'connected_gene': 'LOC100129118', 'score': 0.44}]
chr19 GH19I015135 15135137 15137051 0.71 [{'connected_gene': 'SYDE1', 'score': 11.6}, {'connected_gene': 'EPHX3', 'score': 10.57}, {'connected_gene': 'SLC1A6', 'score': 10.28}, {'connected_gene': 'CCDC105', 'score': 10.28}, {'connected_gene': 'OR7A10', 'score': 10.25}, {'connected_gene': 'OR7C1', 'score': 9.52}, {'connected_gene': 'ILVBL', 'score': 6.96}, {'connected_gene': 'OR10B1P', 'score': 0.44}]
chr19 GH19I015137 15137314 15139471 0.31 [{'connected_gene': 'SYDE1', 'score': 11.58}, {'connected_gene': 'EPHX3', 'score': 10.57}, {'connected_gene': 'CCDC105', 'score': 10.28}, {'connected_gene': 'SLC1A6', 'score': 10.28}, {'connected_gene': 'OR7A10', 'score': 10.25}, {'connected_gene': 'OR7C1', 'score': 9.52}, {'connected_gene': 'ILVBL', 'score': 6.76}, {'connected_gene': 'OR10B1P', 'score': 0.77}]
chr19 GH19I015129 15129450 15131357 0.64 [{'connected_gene': 'SYDE1', 'score': 11.82}, {'connected_gene': 'OR7C1', 'score': 9.8}, {'connected_gene': 'ADGRE2', 'score': 4.45}, {'connected_gene': 'ILVBL', 'score': 0.77}, {'connected_gene': 'OR10B1P', 'score': 0.39}]
chr19 GH19I014671 14671695 14676600 1.71 [{'connected_gene': 'ADGRE3', 'score': 587.48}, {'connected_gene': 'ZNF333', 'score': 12.32}, {'connected_gene': 'OR7C1', 'score': 9.83}, {'connected_gene': 'ADGRE5', 'score': 7.47}, {'connected_gene': 'OR7A5', 'score': 6.66}, {'connected_gene': 'PKN1', 'score': 5.97}, {'connected_gene': 'ENSG00000275432', 'score': 0.25}]
chr19 GH19I014888 14888201 14889538 0.97 [{'connected_gene': 'OR7A18P', 'score': 550.77}, {'connected_gene': 'OR7C1', 'score': 11.1}, {'connected_gene': 'RNU6-782P', 'score': 10.5}, {'connected_gene': 'OR7A5', 'score': 6.14}, {'connected_gene': 'OR7A1P', 'score': 0.44}]
chr19 GH19I015194 15194876 15201401 2.31 [{'connected_gene': 'NOTCH3', 'score': 550.77}, {'connected_gene': 'AKAP8', 'score': 29.12}, {'connected_gene': 'BRD4', 'score': 14.33}, {'connected_gene': 'EPHX3', 'score': 12.88}, {'connected_gene': 'RNU6-782P', 'score': 11.6}, {'connected_gene': 'ZNF333', 'score': 11.31}, {'connected_gene': 'TPM4', 'score': 10.9}, {'connected_gene': 'OR7C1', 'score': 10.0}, {'connected_gene': 'MIR6795', 'score': 0.37}, {'connected_gene': 'GC19M015202', 'score': 0.06}]
chr19 GH19I014841 14841938 14841997 0.5 [{'connected_gene': 'OR7A10', 'score': 550.44}, {'connected_gene': 'OR7C1', 'score': 0.44}]
chr19 GH19I014775 14775340 14777475 1.92 [{'connected_gene': 'ADGRE2', 'score': 573.1}, {'connected_gene': 'OR7C1', 'score': 11.65}, {'connected_gene': 'ZNF333', 'score': 11.35}, {'connected_gene': 'GC19M014744', 'score': 0.31}]
chr19 GH19I014778 14778201 14778608 0.7 [{'connected_gene': 'ADGRE2', 'score': 555.43}, {'connected_gene': 'OR7C1', 'score': 12.22}, {'connected_gene': 'ZNF333', 'score': 6.98}, {'connected_gene': 'GC19M014744', 'score': 0.31}]
chr19 GH19I015629 15629201 15629693 0.94 [{'connected_gene': 'OR10H5', 'score': 10.93}, {'connected_gene': 'OR7C1', 'score': 9.17}, {'connected_gene': 'CYP4F12', 'score': 6.84}, {'connected_gene': 'CYP4F3', 'score': 0.39}, {'connected_gene': 'CYP4F8', 'score': 0.39}]
chr19 GH19I014840 14840289 14840438 0.52 [{'connected_gene': 'OR7C1', 'score': 0.77}, {'connected_gene': 'OR7A10', 'score': 0.44}]
chr19 GH19I015038 15038430 15038579 0.46 [{'connected_gene': 'OR7C1', 'score': 10.83}, {'connected_gene': 'CASP14', 'score': 0.39}, {'connected_gene': 'SLC1A6', 'score': 0.37}]
chr19 GH19I015037 15037690 15037839 0.2 [{'connected_gene': 'OR7C1', 'score': 10.83}, {'connected_gene': 'CASP14', 'score': 0.39}, {'connected_gene': 'SLC1A6', 'score': 0.39}]
chr19 GH19I014890 14890769 14890918 0.85 [{'connected_gene': 'OR7C1', 'score': 11.09}, {'connected_gene': 'RNU6-782P', 'score': 10.5}, {'connected_gene': 'OR7A5', 'score': 5.71}, {'connected_gene': 'OR7A18P', 'score': 0.77}, {'connected_gene': 'OR7A1P', 'score': 0.44}]
chr19 GH19I014618 14618723 14620477 0.38 [{'connected_gene': 'OR7C1', 'score': 10.2}, {'connected_gene': 'ITGB1P1', 'score': 0.77}, {'connected_gene': 'RN7SL842P', 'score': 0.29}, {'connected_gene': 'ADGRE3', 'score': 0.19}]
chr19 GH19I014835 14835149 14835298 0.2 [{'connected_gene': 'OR7A5', 'score': 580.48}, {'connected_gene': 'OR7C1', 'score': 550.77}, {'connected_gene': 'GC19M014827', 'score': 0.44}]
chr19 GH19I014830 14830809 14830958 0.62 [{'connected_gene': 'OR7A5', 'score': 0.77}, {'connected_gene': 'GC19M014827', 'score': 0.77}, {'connected_gene': 'OR7C1', 'score': 0.77}]
chr19 GH19I015123 15123396 15127107 2.28 [{'connected_gene': 'ILVBL', 'score': 557.35}, {'connected_gene': 'ENSG00000268564', 'score': 550.77}, {'connected_gene': 'AKAP8', 'score': 47.35}, {'connected_gene': 'BRD4', 'score': 24.67}, {'connected_gene': 'ZNF333', 'score': 22.93}, {'connected_gene': 'TPM4', 'score': 20.19}, {'connected_gene': 'AKAP8L', 'score': 19.3}, {'connected_gene': 'DDX39A', 'score': 12.42}, {'connected_gene': 'OR1I1', 'score': 12.21}, {'connected_gene': 'ADGRL1', 'score': 12.08}, {'connected_gene': 'ENSG00000268189', 'score': 11.65}, {'connected_gene': 'RAB8A', 'score': 10.81}, {'connected_gene': 'OR7C1', 'score': 9.8}, {'connected_gene': 'GC19P015120', 'score': 0.77}]
chr19 GH19I015097 15097733 15100372 0.81 [{'connected_gene': 'RNU6-782P', 'score': 11.92}, {'connected_gene': 'AKAP8L', 'score': 10.68}, {'connected_gene': 'OR7C1', 'score': 10.14}, {'connected_gene': 'OR7A10', 'score': 10.05}, {'connected_gene': 'ENSG00000268189', 'score': 9.69}, {'connected_gene': 'SYDE1', 'score': 7.0}, {'connected_gene': 'GC19P015087', 'score': 0.39}]
chr19 GH19I015101 15101610 15101739 0.59 [{'connected_gene': 'RNU6-782P', 'score': 12.06}, {'connected_gene': 'OR7C1', 'score': 9.06}, {'connected_gene': 'SYDE1', 'score': 0.44}, {'connected_gene': 'GC19P015087', 'score': 0.39}]
chr19 GH19I015245 15245861 15254456 1.26 [{'connected_gene': 'PIR55370', 'score': 550.77}, {'connected_gene': 'GC19M015250', 'score': 550.77}, {'connected_gene': 'GC19P015251', 'score': 550.77}, {'connected_gene': 'PIR62141', 'score': 550.77}, {'connected_gene': 'AKAP8L', 'score': 11.27}, {'connected_gene': 'AKAP8', 'score': 11.24}, {'connected_gene': 'RNU6-782P', 'score': 10.93}, {'connected_gene': 'OR7C1', 'score': 9.46}, {'connected_gene': 'PIR40704', 'score': 0.77}, {'connected_gene': 'GC19M015255', 'score': 0.77}, {'connected_gene': 'PIR41195', 'score': 0.77}, {'connected_gene': 'BRD4', 'score': 0.18}, {'connected_gene': 'GC19M015202', 'score': 0.06}]