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
ENST00000361972 [[7200585, 7205872], [7212889, 7213018], [7213856, 7214120], [7214456, 7214623], [7217951, 7218127], [7230585, 7230695], [7239509, 7239649], [7242375, 7242446], [7244441, 7244484], [7247776, 7247890], [7262372, 7262499], [7269816, 7269899], [7285519, 7285667], [7290509, 7290611], [7318853, 7318951], [7325865, 7326112], [7327827, 7327916], [7409610, 7409851], [7412242, 7412337], [7423760, 7423911], [7451263, 7451303]] [[7205731, 7205872], [7212889, 7213018], [7213856, 7214120], [7214456, 7214623], [7217951, 7218127], [7230585, 7230695], [7239509, 7239649], [7242375, 7242446], [7244441, 7244484], [7247776, 7247890], [7262372, 7262499], [7269816, 7269899], [7285519, 7285667], [7290509, 7290611], [7318853, 7318951], [7325865, 7326112], [7327827, 7327916], [7409610, 7409851], [7412242, 7412337], [7423760, 7423860]]
ENST00000397167 [[7204248, 7205872], [7212889, 7213018], [7213856, 7214120], [7214456, 7214623], [7217951, 7218127], [7230585, 7230695], [7239509, 7239649], [7242375, 7242446], [7244441, 7244484], [7247776, 7247890], [7262372, 7262499], [7269816, 7269899], [7285519, 7285667], [7290509, 7290611], [7318853, 7318951], [7325865, 7326112], [7327827, 7327916], [7409610, 7409851], [7412242, 7412337], [7423760, 7423911], [7453306, 7453450]] [[7205731, 7205872], [7212889, 7213018], [7213856, 7214120], [7214456, 7214623], [7217951, 7218127], [7230585, 7230695], [7239509, 7239649], [7242375, 7242446], [7244441, 7244484], [7247776, 7247890], [7262372, 7262499], [7269816, 7269899], [7285519, 7285667], [7290509, 7290611], [7318853, 7318951], [7325865, 7326112], [7327827, 7327916], [7409610, 7409851], [7412242, 7412337], [7423760, 7423860]]
ENST00000379713 [[7326143, 7327916], [7409610, 7409851], [7412242, 7412337], [7423760, 7423911], [7453306, 7453448]] [[7327791, 7327916], [7409610, 7409851], [7412242, 7412337], [7423760, 7423860]]
ENST00000379711 [[7390103, 7390295], [7409610, 7409851], [7412242, 7412337], [7423760, 7423911], [7450694, 7450707]] [[7390248, 7390295], [7409610, 7409851], [7412242, 7412337], [7423760, 7423860]]
ENST00000397160 [[7390248, 7390295], [7409610, 7409851], [7412242, 7412337], [7423760, 7423911], [7453306, 7453450]] [[7390248, 7390295], [7409610, 7409851], [7412242, 7412337], [7423760, 7423860]]
NM_001018039 [[7200585, 7205872], [7212889, 7213018], [7213856, 7214120], [7214456, 7214623], [7217951, 7218127], [7230585, 7230695], [7239509, 7239649], [7242375, 7242446], [7244441, 7244484], [7247776, 7247890], [7262372, 7262499], [7269816, 7269899], [7285519, 7285667], [7290509, 7290611], [7318853, 7318951], [7325865, 7326112], [7327827, 7327916], [7409610, 7409851], [7412242, 7412337], [7423760, 7423911], [7451263, 7451303]] [[7205731, 7205872], [7212889, 7213018], [7213856, 7214120], [7214456, 7214623], [7217951, 7218127], [7230585, 7230695], [7239509, 7239649], [7242375, 7242446], [7244441, 7244484], [7247776, 7247890], [7262372, 7262499], [7269816, 7269899], [7285519, 7285667], [7290509, 7290611], [7318853, 7318951], [7325865, 7326112], [7327827, 7327916], [7409610, 7409851], [7412242, 7412337], [7423760, 7423860]]
NM_001029880 [[7200585, 7205872], [7212889, 7213018], [7213856, 7214120], [7214456, 7214623], [7217951, 7218127], [7230585, 7230695], [7239509, 7239649], [7242375, 7242446], [7244441, 7244484], [7247776, 7247890], [7262372, 7262499], [7269816, 7269899], [7285519, 7285667], [7290509, 7290611], [7318853, 7318951], [7325865, 7326112], [7327827, 7327916], [7409610, 7409851], [7412242, 7412337], [7423760, 7423911], [7453306, 7453448]] [[7205731, 7205872], [7212889, 7213018], [7213856, 7214120], [7214456, 7214623], [7217951, 7218127], [7230585, 7230695], [7239509, 7239649], [7242375, 7242446], [7244441, 7244484], [7247776, 7247890], [7262372, 7262499], [7269816, 7269899], [7285519, 7285667], [7290509, 7290611], [7318853, 7318951], [7325865, 7326112], [7327827, 7327916], [7409610, 7409851], [7412242, 7412337], [7423760, 7423860]]
Promoter
Chrom Start End Description
chr10 7453445 7453459 CAGE_peak_1_at_SFMBT2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I007480 7480179 7486707 1.48 [{'connected_gene': 'SFMBT2', 'score': 9.53}, {'connected_gene': 'TAF3', 'score': 4.23}, {'connected_gene': 'KIN', 'score': 1.2}, {'connected_gene': 'GC10M007486', 'score': 0.77}, {'connected_gene': 'RNU6-535P', 'score': 0.77}, {'connected_gene': 'LOC105376388', 'score': 0.39}]
chr10 GH10I007971 7971626 7972036 0.87 [{'connected_gene': 'SFMBT2', 'score': 9.94}, {'connected_gene': 'GC10P007984', 'score': 0.39}, {'connected_gene': 'GC10M007907', 'score': 0.22}, {'connected_gene': 'TAF3', 'score': 0.1}]
chr10 GH10I007406 7406729 7411687 2.47 [{'connected_gene': 'SFMBT2', 'score': 559.56}, {'connected_gene': 'KIN', 'score': 18.66}, {'connected_gene': 'TAF3', 'score': 1.27}, {'connected_gene': 'ENSG00000278982', 'score': 0.77}, {'connected_gene': 'GC10P007374', 'score': 0.29}]
chr10 GH10I007215 7215296 7216431 0.31 [{'connected_gene': 'SFMBT2', 'score': 4.66}, {'connected_gene': 'GC10P007174', 'score': 0.26}, {'connected_gene': 'COX6CP17', 'score': 0.18}]
chr10 GH10I007256 7256943 7257797 0.84 [{'connected_gene': 'SFMBT2', 'score': 11.72}, {'connected_gene': 'COX6CP17', 'score': 0.28}, {'connected_gene': 'GC10P007174', 'score': 0.18}]
chr10 GH10I007320 7320076 7320388 0.57 [{'connected_gene': 'SFMBT2', 'score': 5.08}, {'connected_gene': 'COX6CP17', 'score': 0.34}, {'connected_gene': 'GC10P007374', 'score': 0.23}]
chr10 GH10I007252 7252219 7252368 0.91 [{'connected_gene': 'SFMBT2', 'score': 15.29}, {'connected_gene': 'COX6CP17', 'score': 0.26}, {'connected_gene': 'GC10P007174', 'score': 0.18}]
chr10 GH10I007311 7311419 7311568 0.94 [{'connected_gene': 'SFMBT2', 'score': 10.07}, {'connected_gene': 'COX6CP17', 'score': 0.37}, {'connected_gene': 'GC10P007374', 'score': 0.21}]
chr10 GH10I007179 7179918 7181014 0.74 [{'connected_gene': 'SFMBT2', 'score': 10.5}, {'connected_gene': 'GC10P007174', 'score': 0.44}, {'connected_gene': 'COX6CP17', 'score': 0.14}]
chr10 GH10I007259 7259529 7261608 0.96 [{'connected_gene': 'SFMBT2', 'score': 16.39}, {'connected_gene': 'COX6CP17', 'score': 0.29}, {'connected_gene': 'GC10P007174', 'score': 0.17}]
chr10 GH10I007258 7258983 7259427 0.92 [{'connected_gene': 'SFMBT2', 'score': 14.35}, {'connected_gene': 'COX6CP17', 'score': 0.28}, {'connected_gene': 'GC10P007174', 'score': 0.18}]
chr10 GH10I007314 7314306 7314554 0.67 [{'connected_gene': 'SFMBT2', 'score': 2.08}, {'connected_gene': 'COX6CP17', 'score': 0.37}, {'connected_gene': 'GC10P007374', 'score': 0.21}]
chr10 GH10I007213 7213820 7215145 0.2 [{'connected_gene': 'SFMBT2', 'score': 4.67}, {'connected_gene': 'GC10P007174', 'score': 0.28}, {'connected_gene': 'COX6CP17', 'score': 0.18}]
chr10 GH10I007263 7263403 7265936 0.97 [{'connected_gene': 'SFMBT2', 'score': 11.73}, {'connected_gene': 'COX6CP17', 'score': 0.29}, {'connected_gene': 'GC10P007174', 'score': 0.16}]
chr10 GH10I007474 7474685 7476327 1.32 [{'connected_gene': 'SFMBT2', 'score': 9.09}, {'connected_gene': 'LOC105376388', 'score': 0.77}, {'connected_gene': 'GC10M007486', 'score': 0.39}, {'connected_gene': 'RNU6-535P', 'score': 0.39}]
chr10 GH10I007466 7466119 7466268 0.2 [{'connected_gene': 'SFMBT2', 'score': 8.6}, {'connected_gene': 'LOC105376388', 'score': 0.44}, {'connected_gene': 'GC10M007447', 'score': 0.39}]
chr10 GH10I006926 6926001 6929818 1.48 [{'connected_gene': 'SFMBT2', 'score': 2.62}, {'connected_gene': 'GC10M006908', 'score': 0.37}, {'connected_gene': 'GC10M006973', 'score': 0.18}, {'connected_gene': 'LOC105376387', 'score': 0.08}, {'connected_gene': 'GC10P006679', 'score': 0.07}]
chr10 GH10I007396 7396960 7398575 0.43 [{'connected_gene': 'SFMBT2', 'score': 0.39}, {'connected_gene': 'GC10P007374', 'score': 0.34}]
chr10 GH10I007399 7399382 7402147 0.64 [{'connected_gene': 'SFMBT2', 'score': 0.39}, {'connected_gene': 'GC10P007374', 'score': 0.31}]
chr10 GH10I007405 7405401 7405601 0.86 [{'connected_gene': 'SFMBT2', 'score': 0.44}, {'connected_gene': 'GC10P007374', 'score': 0.29}]
chr10 GH10I008049 8049034 8065063 2.51 [{'connected_gene': 'GATA3', 'score': 555.85}, {'connected_gene': 'KIN', 'score': 65.97}, {'connected_gene': 'TAF3', 'score': 17.89}, {'connected_gene': 'SFMBT2', 'score': 9.94}, {'connected_gene': 'GATA3-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000232638', 'score': 0.44}, {'connected_gene': 'GC10P008092', 'score': 0.28}, {'connected_gene': 'GC10M008036', 'score': 0.07}, {'connected_gene': 'GC10M008037', 'score': 0.07}]
chr10 GH10I007229 7229779 7235664 1.17 [{'connected_gene': 'KIN', 'score': 16.18}, {'connected_gene': 'SFMBT2', 'score': 4.69}, {'connected_gene': 'ITIH2', 'score': 1.49}, {'connected_gene': 'GC10P007174', 'score': 0.22}, {'connected_gene': 'COX6CP17', 'score': 0.21}]
chr10 GH10I007354 7354370 7355428 1.29 [{'connected_gene': 'KIN', 'score': 13.89}, {'connected_gene': 'GC10P007374', 'score': 0.37}, {'connected_gene': 'COX6CP17', 'score': 0.22}, {'connected_gene': 'SFMBT2', 'score': 0.22}]
chr10 GH10I007319 7319001 7319400 0.38 [{'connected_gene': 'COX6CP17', 'score': 0.34}, {'connected_gene': 'GC10P007374', 'score': 0.22}, {'connected_gene': 'SFMBT2', 'score': 0.16}]
chr10 GH10I007302 7302400 7302608 1.12 [{'connected_gene': 'COX6CP17', 'score': 0.44}, {'connected_gene': 'GC10P007374', 'score': 0.19}, {'connected_gene': 'SFMBT2', 'score': 0.14}]
chr10 GH10I007300 7300338 7301947 0.59 [{'connected_gene': 'COX6CP17', 'score': 0.44}, {'connected_gene': 'GC10P007374', 'score': 0.19}, {'connected_gene': 'SFMBT2', 'score': 0.14}]
chr10 GH10I007303 7303832 7305169 0.43 [{'connected_gene': 'COX6CP17', 'score': 0.44}, {'connected_gene': 'GC10P007374', 'score': 0.19}, {'connected_gene': 'SFMBT2', 'score': 0.14}]
chr10 GH10I007305 7305292 7307382 0.63 [{'connected_gene': 'COX6CP17', 'score': 0.39}, {'connected_gene': 'GC10P007374', 'score': 0.2}, {'connected_gene': 'SFMBT2', 'score': 0.14}]
chr10 GH10I007318 7318733 7318842 0.46 [{'connected_gene': 'COX6CP17', 'score': 0.34}, {'connected_gene': 'GC10P007374', 'score': 0.22}, {'connected_gene': 'SFMBT2', 'score': 0.16}]
chr10 GH10I007243 7243950 7244400 0.82 [{'connected_gene': 'COX6CP17', 'score': 0.23}, {'connected_gene': 'GC10P007174', 'score': 0.2}, {'connected_gene': 'SFMBT2', 'score': 0.1}]
chr10 GH10I007271 7271993 7272750 0.2 [{'connected_gene': 'COX6CP17', 'score': 0.34}, {'connected_gene': 'GC10P007174', 'score': 0.15}, {'connected_gene': 'SFMBT2', 'score': 0.12}]
chr10 GH10I007333 7333665 7334601 0.86 [{'connected_gene': 'COX6CP17', 'score': 0.28}, {'connected_gene': 'GC10P007374', 'score': 0.26}, {'connected_gene': 'SFMBT2', 'score': 0.18}]
chr10 GH10I007268 7268822 7270468 0.96 [{'connected_gene': 'COX6CP17', 'score': 0.31}, {'connected_gene': 'GC10P007174', 'score': 0.15}, {'connected_gene': 'SFMBT2', 'score': 0.11}]
chr10 GH10I007457 7457559 7457708 0.63 [{'connected_gene': 'RNU6-535P', 'score': 11.96}, {'connected_gene': 'SFMBT2', 'score': 5.25}, {'connected_gene': 'GC10M007447', 'score': 0.44}, {'connected_gene': 'LOC105376388', 'score': 0.37}]
chr10 GH10I007458 7458001 7458200 0.63 [{'connected_gene': 'RNU6-535P', 'score': 11.96}, {'connected_gene': 'SFMBT2', 'score': 7.52}, {'connected_gene': 'GC10M007447', 'score': 0.44}, {'connected_gene': 'LOC105376388', 'score': 0.39}]
chr10 GH10I007470 7470631 7473128 1.23 [{'connected_gene': 'LOC105376388', 'score': 550.77}, {'connected_gene': 'SFMBT2', 'score': 7.36}, {'connected_gene': 'GC10M007447', 'score': 0.34}]
chr10 GH10I007364 7364295 7366080 0.2 [{'connected_gene': 'GC10P007374', 'score': 0.44}, {'connected_gene': 'SFMBT2', 'score': 0.25}, {'connected_gene': 'COX6CP17', 'score': 0.2}]
chr10 GH10I007417 7417877 7418085 0.35 [{'connected_gene': 'GC10P007419', 'score': 550.77}, {'connected_gene': 'SFMBT2', 'score': 2.54}, {'connected_gene': 'ENSG00000278982', 'score': 0.44}]
chr10 GH10I007412 7412519 7412768 0.57 [{'connected_gene': 'ENSG00000278982', 'score': 550.77}, {'connected_gene': 'SFMBT2', 'score': 550.77}, {'connected_gene': 'GC10P007419', 'score': 0.44}]
chr10 GH10I007375 7375566 7376477 0.82 [{'connected_gene': 'GC10P007374', 'score': 550.77}, {'connected_gene': 'SFMBT2', 'score': 0.28}]
chr10 GH10I007161 7161799 7162228 0.2 [{'connected_gene': 'GC10M007158', 'score': 550.77}, {'connected_gene': 'GC10M007155', 'score': 0.44}, {'connected_gene': 'SFMBT2', 'score': 0.07}]
chr10 GH10I007169 7169835 7171628 0.31 [{'connected_gene': 'GC10M007155', 'score': 550.77}, {'connected_gene': 'GC10M007158', 'score': 0.44}, {'connected_gene': 'SFMBT2', 'score': 0.07}]
chr10 GH10I007388 7388638 7389119 0.6 [{'connected_gene': 'GC10P007374', 'score': 0.39}, {'connected_gene': 'SFMBT2', 'score': 0.34}]
chr10 GH10I007411 7411939 7412068 0.31 [{'connected_gene': 'ENSG00000278982', 'score': 550.77}, {'connected_gene': 'SFMBT2', 'score': 550.77}, {'connected_gene': 'GC10P007419', 'score': 0.44}]
chr10 GH10I007413 7412444 7412488 0.54 [{'connected_gene': 'ENSG00000278982', 'score': 550.77}, {'connected_gene': 'SFMBT2', 'score': 550.77}, {'connected_gene': 'GC10P007419', 'score': 0.44}]
chr10 GH10I007172 7172484 7173742 0.49 [{'connected_gene': 'GC10P007174', 'score': 550.77}, {'connected_gene': 'KIN', 'score': 14.76}, {'connected_gene': 'GC10M007155', 'score': 0.77}, {'connected_gene': 'SFMBT2', 'score': 0.07}]
chr10 GH10I007181 7181519 7181791 0.59 [{'connected_gene': 'GC10P007174', 'score': 0.44}, {'connected_gene': 'COX6CP17', 'score': 0.14}, {'connected_gene': 'SFMBT2', 'score': 0.07}]
chr10 GH10I007200 7200656 7202506 0.31 [{'connected_gene': 'GC10P007174', 'score': 0.31}, {'connected_gene': 'COX6CP17', 'score': 0.16}, {'connected_gene': 'SFMBT2', 'score': 0.08}]
chr10 GH10I007226 7226796 7228148 0.31 [{'connected_gene': 'GC10P007174', 'score': 0.23}, {'connected_gene': 'COX6CP17', 'score': 0.2}, {'connected_gene': 'SFMBT2', 'score': 0.09}]
chr10 GH10I007192 7192534 7194136 0.95 [{'connected_gene': 'GC10P007174', 'score': 0.37}, {'connected_gene': 'COX6CP17', 'score': 0.15}, {'connected_gene': 'SFMBT2', 'score': 0.08}]
chr10 GH10I007206 7206472 7206701 0.75 [{'connected_gene': 'GC10P007174', 'score': 0.29}, {'connected_gene': 'COX6CP17', 'score': 0.17}, {'connected_gene': 'SFMBT2', 'score': 0.08}]
chr10 GH10I007186 7186451 7187400 1.35 [{'connected_gene': 'GC10P007174', 'score': 0.39}, {'connected_gene': 'COX6CP17', 'score': 0.14}, {'connected_gene': 'SFMBT2', 'score': 0.07}]
chr10 GH10I007345 7345363 7346461 0.43 [{'connected_gene': 'GC10P007374', 'score': 0.31}, {'connected_gene': 'COX6CP17', 'score': 0.23}, {'connected_gene': 'SFMBT2', 'score': 0.2}]
chr10 GH10I007339 7339525 7341459 0.43 [{'connected_gene': 'GC10P007374', 'score': 0.29}, {'connected_gene': 'COX6CP17', 'score': 0.25}, {'connected_gene': 'SFMBT2', 'score': 0.19}]
chr10 GH10I007337 7337144 7337848 0.85 [{'connected_gene': 'GC10P007374', 'score': 0.28}, {'connected_gene': 'COX6CP17', 'score': 0.26}, {'connected_gene': 'SFMBT2', 'score': 0.19}]
chr10 GH10I007174 7174638 7176980 0.2 [{'connected_gene': 'GC10P007174', 'score': 550.77}, {'connected_gene': 'COX6CP17', 'score': 0.13}, {'connected_gene': 'SFMBT2', 'score': 0.07}]
chr10 GH10I007211 7211999 7212128 0.2 [{'connected_gene': 'GC10P007174', 'score': 0.28}, {'connected_gene': 'COX6CP17', 'score': 0.18}, {'connected_gene': 'SFMBT2', 'score': 0.08}]
chr10 GH10I007184 7184108 7186400 1.37 [{'connected_gene': 'GC10P007174', 'score': 0.39}, {'connected_gene': 'COX6CP17', 'score': 0.14}, {'connected_gene': 'SFMBT2', 'score': 0.07}]
chr10 GH10I007195 7195670 7196919 0.46 [{'connected_gene': 'GC10P007174', 'score': 0.34}, {'connected_gene': 'COX6CP17', 'score': 0.15}, {'connected_gene': 'SFMBT2', 'score': 0.08}]
chr10 GH10I007487 7487605 7489525 1.12 [{'connected_gene': 'GC10M007486', 'score': 550.77}, {'connected_gene': 'RNU6-535P', 'score': 550.77}, {'connected_gene': 'SFMBT2', 'score': 5.11}, {'connected_gene': 'LOC105376390', 'score': 0.26}]

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