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
ENST00000343572 [[5809, 6168], [11205, 11332], [11871, 11981], [13920, 13995], [22327, 22407], [30897, 31427]] [[6006, 6168], [11205, 11332], [11871, 11981], [13920, 13995], [22327, 22407], [30897, 31270]]
ENST00000609727 [[13330, 13529], [13920, 13995], [22327, 22407], [30897, 30961]] None
NM_003585 [[6008, 6168], [11205, 11332], [11871, 11981], [13920, 13995], [22327, 22407], [30897, 31421]] [[6008, 6168], [11205, 11332], [11871, 11981], [13920, 13995], [22327, 22407], [30897, 31270]]
Promoter
Chrom Start End Description
chr17 31233 31253 CAGE_peak_3_at_DOC2B_5end
chr17 31404 31427 CAGE_peak_2_at_DOC2B_5end
chr17 31432 31473 CAGE_peak_1_at_DOC2B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I000226 226484 228099 0.38 [{'connected_gene': 'RPH3AL', 'score': 14.31}, {'connected_gene': 'DOC2B', 'score': 11.95}, {'connected_gene': 'FAM57A', 'score': 11.16}, {'connected_gene': 'GC17M000217', 'score': 0.77}, {'connected_gene': 'GC17P000246', 'score': 0.37}]
chr17 GH17I000288 288728 290907 0.46 [{'connected_gene': 'RPH3AL', 'score': 12.67}, {'connected_gene': 'DOC2B', 'score': 11.67}, {'connected_gene': 'VPS53', 'score': 4.72}, {'connected_gene': 'PIR56598', 'score': 0.77}, {'connected_gene': 'GC17P000267', 'score': 0.34}, {'connected_gene': 'GC17M000276', 'score': 0.16}]
chr17 GH17I000385 385003 386780 1.76 [{'connected_gene': 'RPH3AL', 'score': 555.49}, {'connected_gene': 'C17orf97', 'score': 13.99}, {'connected_gene': 'DOC2B', 'score': 1.77}, {'connected_gene': 'GC17M000276', 'score': 0.77}]
chr17 GH17I000282 282778 283865 0.7 [{'connected_gene': 'DOC2B', 'score': 11.55}, {'connected_gene': 'RPH3AL', 'score': 6.75}, {'connected_gene': 'VPS53', 'score': 4.98}, {'connected_gene': 'PIR56598', 'score': 0.44}, {'connected_gene': 'GC17P000267', 'score': 0.37}, {'connected_gene': 'GC17M000276', 'score': 0.15}]
chr17 GH17I000180 180945 182221 1.65 [{'connected_gene': 'DOC2B', 'score': 550.77}, {'connected_gene': 'RPH3AL', 'score': 6.47}, {'connected_gene': 'GC17M000176', 'score': 0.39}, {'connected_gene': 'VN1R72P', 'score': 0.37}]
chr17 GH17I000259 259770 259959 0.43 [{'connected_gene': 'DOC2B', 'score': 10.99}, {'connected_gene': 'GC17P000262', 'score': 0.77}, {'connected_gene': 'GC17P000246', 'score': 0.39}, {'connected_gene': 'RPH3AL', 'score': 0.13}]
chr17 GH17I000274 274101 274848 0.38 [{'connected_gene': 'DOC2B', 'score': 11.59}, {'connected_gene': 'GC17P000267', 'score': 0.44}, {'connected_gene': 'PIR56598', 'score': 0.37}, {'connected_gene': 'RPH3AL', 'score': 0.14}]
chr17 GH17I000261 260026 260320 0.43 [{'connected_gene': 'DOC2B', 'score': 10.99}, {'connected_gene': 'GC17P000262', 'score': 0.77}, {'connected_gene': 'GC17P000246', 'score': 0.39}, {'connected_gene': 'RPH3AL', 'score': 0.13}]
chr17 GH17I000260 260330 260399 0.38 [{'connected_gene': 'DOC2B', 'score': 10.99}, {'connected_gene': 'GC17P000262', 'score': 0.77}, {'connected_gene': 'GC17P000246', 'score': 0.39}, {'connected_gene': 'RPH3AL', 'score': 0.13}]
chr17 GH17I000285 285977 286977 0.31 [{'connected_gene': 'DOC2B', 'score': 11.68}, {'connected_gene': 'PIR56598', 'score': 0.44}, {'connected_gene': 'GC17P000267', 'score': 0.37}, {'connected_gene': 'RPH3AL', 'score': 0.15}, {'connected_gene': 'GC17M000276', 'score': 0.15}]
chr17 GH17I000232 232601 235199 1.01 [{'connected_gene': 'DOC2B', 'score': 18.49}, {'connected_gene': 'FAM57A', 'score': 11.17}, {'connected_gene': 'RPH3AL', 'score': 10.68}, {'connected_gene': 'TIMM22', 'score': 9.88}, {'connected_gene': 'MRM3', 'score': 5.29}, {'connected_gene': 'GC17M000217', 'score': 0.44}, {'connected_gene': 'GC17P000246', 'score': 0.39}]
chr17 GH17I000284 284433 285580 0.31 [{'connected_gene': 'DOC2B', 'score': 11.55}, {'connected_gene': 'VPS53', 'score': 4.98}, {'connected_gene': 'PIR56598', 'score': 0.44}, {'connected_gene': 'GC17P000267', 'score': 0.37}, {'connected_gene': 'GC17M000276', 'score': 0.15}, {'connected_gene': 'RPH3AL', 'score': 0.15}]
chr17 GH17I000377 377090 377179 0.72 [{'connected_gene': 'DOC2B', 'score': 11.51}, {'connected_gene': 'RFLNB', 'score': 11.46}, {'connected_gene': 'C17orf97', 'score': 8.57}, {'connected_gene': 'RPH3AL', 'score': 0.44}, {'connected_gene': 'GC17M000276', 'score': 0.44}, {'connected_gene': 'ENSG00000262558', 'score': 0.34}]
chr17 GH17I000379 379645 380512 0.31 [{'connected_gene': 'DOC2B', 'score': 11.51}, {'connected_gene': 'RFLNB', 'score': 11.46}, {'connected_gene': 'C17orf97', 'score': 9.07}, {'connected_gene': 'RPH3AL', 'score': 6.7}, {'connected_gene': 'GC17M000276', 'score': 0.77}, {'connected_gene': 'ENSG00000262558', 'score': 0.31}]
chr17 GH17I000309 309216 309739 0.72 [{'connected_gene': 'DOC2B', 'score': 12.21}, {'connected_gene': 'RFLNB', 'score': 10.6}, {'connected_gene': 'LOC100506388', 'score': 6.77}, {'connected_gene': 'PIR31127', 'score': 0.77}, {'connected_gene': 'PIR56598', 'score': 0.37}, {'connected_gene': 'GC17M000276', 'score': 0.19}, {'connected_gene': 'RPH3AL', 'score': 0.18}]
chr17 GH17I000307 307446 308499 0.58 [{'connected_gene': 'DOC2B', 'score': 12.21}, {'connected_gene': 'RFLNB', 'score': 10.6}, {'connected_gene': 'LOC100506388', 'score': 7.41}, {'connected_gene': 'PIR31127', 'score': 0.44}, {'connected_gene': 'PIR56598', 'score': 0.39}, {'connected_gene': 'GC17M000276', 'score': 0.19}, {'connected_gene': 'RPH3AL', 'score': 0.18}]
chr17 GH17I000237 237097 237859 0.43 [{'connected_gene': 'DOC2B', 'score': 12.07}, {'connected_gene': 'TIMM22', 'score': 9.52}, {'connected_gene': 'RPH3AL', 'score': 7.97}, {'connected_gene': 'MRM3', 'score': 5.58}, {'connected_gene': 'GC17P000246', 'score': 0.44}, {'connected_gene': 'GC17M000217', 'score': 0.39}]
chr17 GH17I000279 279203 280859 0.51 [{'connected_gene': 'DOC2B', 'score': 11.58}, {'connected_gene': 'LOC100506388', 'score': 5.84}, {'connected_gene': 'VPS53', 'score': 4.98}, {'connected_gene': 'PIR56598', 'score': 0.39}, {'connected_gene': 'GC17P000267', 'score': 0.39}, {'connected_gene': 'GC17M000276', 'score': 0.15}, {'connected_gene': 'RPH3AL', 'score': 0.14}]
chr17 GH17I000182 182462 182679 0.96 [{'connected_gene': 'DOC2B', 'score': 554.8}, {'connected_gene': 'LINC02091', 'score': 12.11}, {'connected_gene': 'RPH3AL', 'score': 6.29}, {'connected_gene': 'GC17M000176', 'score': 0.39}]
chr17 GH17I000181 180600 180801 0.9 [{'connected_gene': 'DOC2B', 'score': 550.77}, {'connected_gene': 'GC17M000176', 'score': 0.39}, {'connected_gene': 'VN1R72P', 'score': 0.37}]
chr17 GH17I000689 689401 696604 1.44 [{'connected_gene': 'VPS53', 'score': 28.12}, {'connected_gene': 'FAM57A', 'score': 23.83}, {'connected_gene': 'C17orf97', 'score': 11.76}, {'connected_gene': 'RFLNB', 'score': 11.3}, {'connected_gene': 'DOC2B', 'score': 10.4}, {'connected_gene': 'TIMM22', 'score': 10.12}, {'connected_gene': 'GEMIN4', 'score': 5.94}, {'connected_gene': 'ENSG00000263015', 'score': 4.98}, {'connected_gene': 'GC17M000676', 'score': 0.39}, {'connected_gene': 'GC17P000714', 'score': 0.34}]
chr17 GH17I000703 703217 705084 0.43 [{'connected_gene': 'VPS53', 'score': 39.85}, {'connected_gene': 'FAM57A', 'score': 12.45}, {'connected_gene': 'C17orf97', 'score': 11.53}, {'connected_gene': 'RFLNB', 'score': 10.75}, {'connected_gene': 'GLOD4', 'score': 10.52}, {'connected_gene': 'DOC2B', 'score': 10.32}, {'connected_gene': 'MRM3', 'score': 10.08}, {'connected_gene': 'GEMIN4', 'score': 6.01}, {'connected_gene': 'GC17P000714', 'score': 0.39}, {'connected_gene': 'GC17M000676', 'score': 0.31}]
chr17 GH17I000705 705626 706726 0.2 [{'connected_gene': 'VPS53', 'score': 28.61}, {'connected_gene': 'FAM57A', 'score': 22.91}, {'connected_gene': 'C17orf97', 'score': 11.53}, {'connected_gene': 'RFLNB', 'score': 10.74}, {'connected_gene': 'GLOD4', 'score': 10.52}, {'connected_gene': 'DOC2B', 'score': 10.32}, {'connected_gene': 'MRM3', 'score': 10.08}, {'connected_gene': 'GC17P000714', 'score': 0.44}, {'connected_gene': 'GC17M000676', 'score': 0.31}]
chr17 GH17I000675 675474 677294 0.2 [{'connected_gene': 'VPS53', 'score': 51.06}, {'connected_gene': 'C17orf97', 'score': 11.66}, {'connected_gene': 'DOC2B', 'score': 11.3}, {'connected_gene': 'RFLNB', 'score': 10.99}, {'connected_gene': 'GEMIN4', 'score': 5.83}, {'connected_gene': 'ENSG00000263015', 'score': 4.88}, {'connected_gene': 'GC17M000676', 'score': 0.77}, {'connected_gene': 'RPS4XP17', 'score': 0.37}]
chr17 GH17I000673 673098 674621 0.54 [{'connected_gene': 'VPS53', 'score': 39.71}, {'connected_gene': 'C17orf97', 'score': 11.66}, {'connected_gene': 'DOC2B', 'score': 11.3}, {'connected_gene': 'RFLNB', 'score': 11.0}, {'connected_gene': 'GEMIN4', 'score': 5.79}, {'connected_gene': 'ENSG00000263015', 'score': 4.88}, {'connected_gene': 'GC17M000676', 'score': 0.44}, {'connected_gene': 'RPS4XP17', 'score': 0.37}]
chr17 GH17I000669 669021 669170 0.46 [{'connected_gene': 'VPS53', 'score': 11.89}, {'connected_gene': 'C17orf97', 'score': 11.67}, {'connected_gene': 'DOC2B', 'score': 11.3}, {'connected_gene': 'RFLNB', 'score': 11.0}, {'connected_gene': 'GC17M000676', 'score': 0.44}, {'connected_gene': 'RPS4XP17', 'score': 0.39}]
chr17 GH17I000671 671399 671725 0.49 [{'connected_gene': 'VPS53', 'score': 19.48}, {'connected_gene': 'C17orf97', 'score': 11.66}, {'connected_gene': 'DOC2B', 'score': 11.3}, {'connected_gene': 'RFLNB', 'score': 11.0}, {'connected_gene': 'GC17M000676', 'score': 0.44}, {'connected_gene': 'RPS4XP17', 'score': 0.39}]
chr17 GH17I000372 372553 373435 0.38 [{'connected_gene': 'C17orf97', 'score': 20.2}, {'connected_gene': 'DOC2B', 'score': 11.53}, {'connected_gene': 'RPH3AL', 'score': 5.51}, {'connected_gene': 'GC17M000276', 'score': 0.44}, {'connected_gene': 'ENSG00000262558', 'score': 0.37}]
chr17 GH17I000563 563741 563890 0.2 [{'connected_gene': 'C17orf97', 'score': 11.51}, {'connected_gene': 'RFLNB', 'score': 11.15}, {'connected_gene': 'DOC2B', 'score': 9.87}, {'connected_gene': 'GC17P000565', 'score': 0.77}, {'connected_gene': 'GC17P000555', 'score': 0.44}, {'connected_gene': 'VPS53', 'score': 0.1}]
chr17 GH17I000651 651786 653115 0.31 [{'connected_gene': 'RFLNB', 'score': 11.62}, {'connected_gene': 'DOC2B', 'score': 10.2}, {'connected_gene': 'VPS53', 'score': 9.8}, {'connected_gene': 'GEMIN4', 'score': 5.66}, {'connected_gene': 'GC17M000664', 'score': 0.44}, {'connected_gene': 'ENSG00000262708', 'score': 0.28}]
chr17 GH17I000143 143800 144201 0.2 [{'connected_gene': 'LOC105379281', 'score': 0.77}, {'connected_gene': 'LOC105379280', 'score': 0.77}, {'connected_gene': 'DOC2B', 'score': 0.28}]
chr17 GH17I000304 304375 305259 0.95 [{'connected_gene': 'LOC100506388', 'score': 7.49}, {'connected_gene': 'DOC2B', 'score': 3.94}, {'connected_gene': 'PIR31127', 'score': 0.44}, {'connected_gene': 'PIR56598', 'score': 0.39}, {'connected_gene': 'GC17M000276', 'score': 0.18}, {'connected_gene': 'RPH3AL', 'score': 0.18}]
chr17 GH17I000177 177444 180580 0.59 [{'connected_gene': 'LINC02091', 'score': 16.33}, {'connected_gene': 'RPH3AL', 'score': 7.58}, {'connected_gene': 'DBIL5P', 'score': 4.61}, {'connected_gene': 'DOC2B', 'score': 0.77}, {'connected_gene': 'GC17M000176', 'score': 0.37}, {'connected_gene': 'VN1R72P', 'score': 0.37}]
chr17 GH17I000164 164650 164799 0.62 [{'connected_gene': 'VN1R72P', 'score': 550.77}, {'connected_gene': 'DOC2B', 'score': 0.37}]
chr17 GH17I000265 265757 268132 0.79 [{'connected_gene': 'GC17P000267', 'score': 550.77}, {'connected_gene': 'DOC2B', 'score': 11.7}, {'connected_gene': 'VPS53', 'score': 4.98}, {'connected_gene': 'PIR56598', 'score': 0.31}, {'connected_gene': 'RPH3AL', 'score': 0.13}]
chr17 GH17I000312 312651 313667 0.38 [{'connected_gene': 'PIR31127', 'score': 550.77}, {'connected_gene': 'DOC2B', 'score': 12.2}, {'connected_gene': 'RFLNB', 'score': 10.6}, {'connected_gene': 'PIR56598', 'score': 0.34}, {'connected_gene': 'GC17M000276', 'score': 0.2}, {'connected_gene': 'RPH3AL', 'score': 0.19}]
chr17 GH17I000381 381844 384804 1.27 [{'connected_gene': 'GC17M000276', 'score': 550.77}, {'connected_gene': 'C17orf97', 'score': 13.77}, {'connected_gene': 'DOC2B', 'score': 12.1}, {'connected_gene': 'RFLNB', 'score': 11.46}, {'connected_gene': 'RPH3AL', 'score': 5.42}]
chr17 GH17I000555 555645 555811 0.27 [{'connected_gene': 'GC17P000555', 'score': 550.77}, {'connected_gene': 'C17orf97', 'score': 12.5}, {'connected_gene': 'RFLNB', 'score': 11.76}, {'connected_gene': 'DOC2B', 'score': 10.18}, {'connected_gene': 'GLOD4', 'score': 9.82}, {'connected_gene': 'GC17P000565', 'score': 0.39}, {'connected_gene': 'VPS53', 'score': 0.1}]

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