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
ENST00000559195 [[103589778, 103589820], [103592646, 103593029], [103596076, 103596191], [103596338, 103596370]] None
ENST00000558056 [[103589797, 103589820], [103590711, 103590843], [103592646, 103592912]] [[103592794, 103592912]]
ENST00000560869 [[103589797, 103590288], [103592646, 103593029], [103593341, 103593966], [103596076, 103596191], [103596338, 103596461], [103596651, 103596752], [103597388, 103597487], [103597975, 103598099], [103599086, 103599209], [103599698, 103599854], [103600018, 103600140], [103601555, 103603776]] [[103592794, 103593029], [103593341, 103593966], [103596076, 103596191], [103596338, 103596461], [103596651, 103596752], [103597388, 103597487], [103597975, 103598099], [103599086, 103599209], [103599698, 103599854], [103600018, 103600140], [103601555, 103601697]]
ENST00000333007 [[103592663, 103593029], [103593341, 103593966], [103596076, 103596191], [103596338, 103596461], [103596651, 103596752], [103597388, 103597487], [103597975, 103598099], [103599086, 103599209], [103599698, 103599854], [103600018, 103600140], [103601555, 103603776]] [[103592794, 103593029], [103593341, 103593966], [103596076, 103596191], [103596338, 103596461], [103596651, 103596752], [103597388, 103597487], [103597975, 103598099], [103599086, 103599209], [103599698, 103599854], [103600018, 103600140], [103601555, 103601697]]
ENST00000560562 [[103592725, 103593029], [103596338, 103596461], [103596651, 103596752], [103597388, 103597487], [103597975, 103598099], [103599086, 103599209], [103600018, 103600140], [103601555, 103601988]] [[103592794, 103593029], [103596338, 103596397]]
ENST00000559406 [[103592725, 103592901], [103593739, 103593966], [103596076, 103596191], [103596338, 103596461], [103596651, 103596752], [103597388, 103597487], [103597975, 103598099], [103599086, 103599209], [103599698, 103599854], [103600018, 103600140], [103601555, 103601988]] [[103592794, 103592901], [103593739, 103593779]]
ENST00000560428 [[103593902, 103593966], [103596076, 103596461], [103596651, 103596752], [103597388, 103597487], [103597975, 103598099]] None
ENST00000451723 [[103593912, 103593966], [103596338, 103596461], [103596651, 103596752], [103597388, 103597487], [103597975, 103598099], [103599086, 103599209], [103599698, 103599854], [103600018, 103600140], [103601555, 103601987]] [[103596356, 103596461], [103596651, 103596752], [103597388, 103597487], [103597975, 103598099], [103599086, 103599209], [103599698, 103599854], [103600018, 103600140], [103601555, 103601697]]
ENST00000560670 [[103593912, 103593966], [103596338, 103596461], [103596651, 103596752], [103597388, 103597487], [103597975, 103598099], [103599086, 103599209], [103599698, 103599854], [103600018, 103600140], [103601555, 103601987]] [[103593912, 103593966], [103596338, 103596461], [103596651, 103596752], [103597388, 103597487], [103597975, 103598099], [103599086, 103599209], [103599698, 103599854], [103600018, 103600140], [103601555, 103601697]]
ENST00000561156 [[103597432, 103597487], [103597975, 103598099], [103599038, 103599209], [103599698, 103599854], [103600018, 103600102]] [[103597432, 103597487], [103597975, 103598099], [103599038, 103599059]]
ENST00000538222 [[103599084, 103599209], [103599698, 103599854], [103600018, 103600140], [103601555, 103601688], [103602145, 103602611]] [[103599704, 103599854], [103600018, 103600140], [103601555, 103601688], [103602145, 103602340]]
ENST00000559255 [[103599084, 103599209], [103599698, 103599854], [103600018, 103600140], [103601555, 103601688], [103602145, 103603019]] [[103599084, 103599209], [103599698, 103599854], [103600018, 103600140], [103601555, 103601688], [103602145, 103602340]]
ENST00000561217 [[103602739, 103602791], [103603218, 103603769]] None
NM_006291 [[103592663, 103593029], [103593341, 103593966], [103596076, 103596191], [103596338, 103596461], [103596651, 103596752], [103597388, 103597487], [103597975, 103598099], [103599086, 103599209], [103599698, 103599854], [103600018, 103600140], [103601555, 103603776]] [[103592794, 103593029], [103593341, 103593966], [103596076, 103596191], [103596338, 103596461], [103596651, 103596752], [103597388, 103597487], [103597975, 103598099], [103599086, 103599209], [103599698, 103599854], [103600018, 103600140], [103601555, 103601697]]
Promoter
Chrom Start End Description
chr14 103589534 103589553 CAGE_peak_7_at_TNFAIP2_5end
chr14 103589789 103589804 CAGE_peak_1_at_TNFAIP2_5end
chr14 103592636 103592649 CAGE_peak_21_at_TNFAIP2_5end
chr14 103592831 103592848 CAGE_peak_12_at_TNFAIP2_5end
chr14 103593465 103593476 CAGE_peak_24_at_TNFAIP2_5end
chr14 103599694 103599717 CAGE_peak_14_at_TNFAIP2_5end
chr14 103602520 103602537 CAGE_peak_6_at_TNFAIP2_5end
chr14 103602720 103602729 CAGE_peak_27_at_TNFAIP2_5end
chr14 103602735 103602746 CAGE_peak_9_at_TNFAIP2_5end
chr14 103602748 103602769 CAGE_peak_8_at_TNFAIP2_5end
chr14 103602772 103602786 CAGE_peak_15_at_TNFAIP2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I103193 103193552 103194317 0.68 [{'connected_gene': 'EXOC3L4', 'score': 4.56}, {'connected_gene': 'TNFAIP2', 'score': 4.31}, {'connected_gene': 'LINC00605', 'score': 0.77}, {'connected_gene': 'GC14M103156', 'score': 0.77}]
chr14 GH14I103114 103114476 103117015 1.26 [{'connected_gene': 'EXOC3L4', 'score': 4.41}, {'connected_gene': 'TNFAIP2', 'score': 0.44}, {'connected_gene': 'GC14M103075', 'score': 0.37}]
chr14 GH14I103107 103107102 103113844 1.64 [{'connected_gene': 'XRCC3', 'score': 13.75}, {'connected_gene': 'TNFAIP2', 'score': 12.4}, {'connected_gene': 'ENSG00000259444', 'score': 12.02}, {'connected_gene': 'RCOR1', 'score': 11.87}, {'connected_gene': 'TRAF3', 'score': 7.89}, {'connected_gene': 'RD3L', 'score': 5.22}, {'connected_gene': 'EIF5', 'score': 4.49}, {'connected_gene': 'MARK3', 'score': 3.07}, {'connected_gene': 'BAG5', 'score': 2.66}, {'connected_gene': 'APOPT1', 'score': 1.17}, {'connected_gene': 'GC14M103075', 'score': 0.39}, {'connected_gene': 'EXOC3L4', 'score': 0.37}]
chr14 GH14I103103 103103327 103106327 1.49 [{'connected_gene': 'XRCC3', 'score': 91.26}, {'connected_gene': 'RCOR1', 'score': 51.81}, {'connected_gene': 'WDR20', 'score': 44.69}, {'connected_gene': 'CDC42BPB', 'score': 33.5}, {'connected_gene': 'BAG5', 'score': 30.74}, {'connected_gene': 'ZNF839', 'score': 23.05}, {'connected_gene': 'ENSG00000259444', 'score': 20.4}, {'connected_gene': 'ENSG00000260285', 'score': 19.78}, {'connected_gene': 'ENSG00000269940', 'score': 18.73}, {'connected_gene': 'KLC1', 'score': 12.38}, {'connected_gene': 'ENSG00000270591', 'score': 10.13}, {'connected_gene': 'CKB', 'score': 10.02}, {'connected_gene': 'MOK', 'score': 9.78}, {'connected_gene': 'ENSG00000259775', 'score': 9.72}, {'connected_gene': 'GC14M103075', 'score': 0.77}, {'connected_gene': 'EXOC3L4', 'score': 0.39}, {'connected_gene': 'TNFAIP2', 'score': 0.37}]
chr14 GH14I102767 102767634 102769535 1.4 [{'connected_gene': 'TRAF3', 'score': 8.71}, {'connected_gene': 'RCOR1', 'score': 4.21}, {'connected_gene': 'TNFAIP2', 'score': 3.1}, {'connected_gene': 'ENSG00000259508', 'score': 0.44}, {'connected_gene': 'PIR52160', 'score': 0.25}]
chr14 GH14I103265 103265133 103265299 0.25 [{'connected_gene': 'TNFAIP2', 'score': 10.57}, {'connected_gene': 'TRAF3', 'score': 6.13}, {'connected_gene': 'MARK3', 'score': 2.55}, {'connected_gene': 'EIF5', 'score': 2.29}, {'connected_gene': 'GC14P103260', 'score': 0.44}, {'connected_gene': 'RAP2CP1', 'score': 0.39}]
chr14 GH14I103212 103212681 103214443 0.98 [{'connected_gene': 'TNFAIP2', 'score': 4.75}, {'connected_gene': 'ENSG00000278071', 'score': 0.44}, {'connected_gene': 'RPL21P13', 'score': 0.31}]
chr14 GH14I103156 103156110 103157707 0.38 [{'connected_gene': 'TNFAIP2', 'score': 17.35}, {'connected_gene': 'ENSG00000246451', 'score': 4.77}, {'connected_gene': 'RPL21P12', 'score': 0.44}, {'connected_gene': 'LOC105370685', 'score': 0.44}, {'connected_gene': 'GC14P103285', 'score': 0.34}, {'connected_gene': 'GC14M103156', 'score': 0.26}]
chr14 GH14I103154 103154624 103155754 0.96 [{'connected_gene': 'TNFAIP2', 'score': 12.4}, {'connected_gene': 'RPL21P12', 'score': 0.44}, {'connected_gene': 'LOC105370685', 'score': 0.44}, {'connected_gene': 'GC14P103285', 'score': 0.34}]
chr14 GH14I103169 103169413 103170787 0.49 [{'connected_gene': 'TNFAIP2', 'score': 5.07}, {'connected_gene': 'LOC105370685', 'score': 0.44}, {'connected_gene': 'GCSHP2', 'score': 0.39}, {'connected_gene': 'GC14M103156', 'score': 0.31}]
chr14 GH14I103117 103117664 103131900 2.72 [{'connected_gene': 'TNFAIP2', 'score': 564.69}, {'connected_gene': 'LINC00677', 'score': 550.77}, {'connected_gene': 'WDR20', 'score': 10.54}, {'connected_gene': 'NDUFB4P11', 'score': 10.38}, {'connected_gene': 'ENSG00000259444', 'score': 7.79}, {'connected_gene': 'TRAF3', 'score': 7.4}, {'connected_gene': 'EIF5', 'score': 5.51}, {'connected_gene': 'MARK3', 'score': 5.27}, {'connected_gene': 'BAG5', 'score': 2.0}, {'connected_gene': 'PIR35194', 'score': 0.44}]
chr14 GH14I103190 103190671 103193406 0.77 [{'connected_gene': 'MOK', 'score': 11.26}, {'connected_gene': 'TNFAIP2', 'score': 5.33}, {'connected_gene': 'EXOC3L4', 'score': 5.3}, {'connected_gene': 'LINC00605', 'score': 0.77}, {'connected_gene': 'GC14M103156', 'score': 0.44}]
chr14 GH14I103382 103382320 103383033 1.2 [{'connected_gene': 'MARK3', 'score': 11.47}, {'connected_gene': 'ZFYVE21', 'score': 8.9}, {'connected_gene': 'TNFAIP2', 'score': 2.71}, {'connected_gene': 'EIF5', 'score': 2.14}, {'connected_gene': 'RPSAP5', 'score': 0.44}, {'connected_gene': 'GC14M103376', 'score': 0.12}]
chr14 GH14I103416 103416602 103419331 1.56 [{'connected_gene': 'MARK3', 'score': 46.23}, {'connected_gene': 'TNFAIP2', 'score': 11.56}, {'connected_gene': 'RNU7-160P', 'score': 10.81}, {'connected_gene': 'CKB', 'score': 8.09}, {'connected_gene': 'EIF5', 'score': 3.79}, {'connected_gene': 'RPL10AP1', 'score': 0.44}, {'connected_gene': 'GC14P103445', 'score': 0.31}, {'connected_gene': 'GC14M103376', 'score': 0.15}]
chr14 GH14I103361 103361218 103362982 1.41 [{'connected_gene': 'CKB', 'score': 15.06}, {'connected_gene': 'TNFAIP2', 'score': 11.21}, {'connected_gene': 'MARK3', 'score': 9.44}, {'connected_gene': 'XRCC3', 'score': 4.67}, {'connected_gene': 'EIF5', 'score': 2.95}, {'connected_gene': 'GC14M103366', 'score': 0.77}, {'connected_gene': 'GC14M103345', 'score': 0.37}]
chr14 GH14I103136 103136062 103141608 1.38 [{'connected_gene': 'NDUFB4P11', 'score': 564.27}, {'connected_gene': 'CDC42BPB', 'score': 10.07}, {'connected_gene': 'XRCC3', 'score': 9.77}, {'connected_gene': 'GC14P103285', 'score': 0.77}, {'connected_gene': 'TNFAIP2', 'score': 0.37}]
chr14 GH14I103422 103422503 103423821 1.09 [{'connected_gene': 'RNU7-160P', 'score': 10.82}, {'connected_gene': 'MARK3', 'score': 10.19}, {'connected_gene': 'TNFAIP2', 'score': 9.11}, {'connected_gene': 'EIF5', 'score': 2.86}, {'connected_gene': 'RPL10AP1', 'score': 0.39}, {'connected_gene': 'GC14P103445', 'score': 0.34}, {'connected_gene': 'GC14M103376', 'score': 0.15}]
chr14 GH14I103185 103185444 103190336 1.72 [{'connected_gene': 'LINC00605', 'score': 557.06}, {'connected_gene': 'TNFAIP2', 'score': 17.94}, {'connected_gene': 'EXOC3L4', 'score': 4.16}, {'connected_gene': 'GCSHP2', 'score': 0.77}, {'connected_gene': 'GC14M103156', 'score': 0.44}]
chr14 GH14I103133 103133064 103133213 0.79 [{'connected_gene': 'GC14P103285', 'score': 550.77}, {'connected_gene': 'PIR35194', 'score': 550.77}, {'connected_gene': 'WDR20', 'score': 15.56}, {'connected_gene': 'NDUFB4P11', 'score': 13.46}, {'connected_gene': 'BAG5', 'score': 12.31}, {'connected_gene': 'LINC00677', 'score': 0.44}, {'connected_gene': 'TNFAIP2', 'score': 0.39}]
chr14 GH14I103097 103097902 103102200 1.91 [{'connected_gene': 'GC14M103075', 'score': 550.77}, {'connected_gene': 'EXOC3L4', 'score': 550.44}, {'connected_gene': 'ENSG00000259444', 'score': 21.37}, {'connected_gene': 'TNFAIP2', 'score': 0.34}]
chr14 GH14I103204 103204357 103210348 2.23 [{'connected_gene': 'ENSG00000278071', 'score': 550.77}, {'connected_gene': 'ENSG00000270705', 'score': 550.77}, {'connected_gene': 'XRCC3', 'score': 39.81}, {'connected_gene': 'CDC42BPB', 'score': 22.14}, {'connected_gene': 'RCOR1', 'score': 20.77}, {'connected_gene': 'MOK', 'score': 19.68}, {'connected_gene': 'BAG5', 'score': 19.36}, {'connected_gene': 'PPP1R13B', 'score': 11.1}, {'connected_gene': 'TNFAIP2', 'score': 6.28}, {'connected_gene': 'LINC00605', 'score': 6.28}, {'connected_gene': 'ENSG00000269940', 'score': 5.33}, {'connected_gene': 'EXOC3L4', 'score': 2.75}, {'connected_gene': 'GC14M103156', 'score': 0.44}]
chr14 GH14I103195 103195924 103196073 0.4 [{'connected_gene': 'GC14M103156', 'score': 550.77}, {'connected_gene': 'TNFAIP2', 'score': 4.99}, {'connected_gene': 'EXOC3L4', 'score': 4.51}, {'connected_gene': 'LINC00605', 'score': 0.44}]
chr14 GH14I103259 103259624 103261400 1.22 [{'connected_gene': 'GC14P103260', 'score': 550.77}, {'connected_gene': 'TNFAIP2', 'score': 12.27}, {'connected_gene': 'TRAF3', 'score': 7.39}, {'connected_gene': 'RAP2CP1', 'score': 6.91}, {'connected_gene': 'ENSG00000259775', 'score': 5.65}, {'connected_gene': 'TRMT61A', 'score': 5.19}, {'connected_gene': 'EIF5', 'score': 3.31}, {'connected_gene': 'MARK3', 'score': 3.01}]
chr14 GH14I103197 103197916 103200102 1.27 [{'connected_gene': 'GC14M103156', 'score': 550.77}, {'connected_gene': 'TNFAIP2', 'score': 5.49}, {'connected_gene': 'ENSG00000269940', 'score': 5.34}, {'connected_gene': 'ENSG00000270705', 'score': 0.44}]
chr14 GH14I103131 103131984 103132821 0.96 [{'connected_gene': 'GC14P103285', 'score': 550.77}, {'connected_gene': 'PIR35194', 'score': 550.77}, {'connected_gene': 'NDUFB4P11', 'score': 8.22}, {'connected_gene': 'LINC00677', 'score': 0.44}, {'connected_gene': 'TNFAIP2', 'score': 0.39}]
chr14 GH14I103314 103314487 103316175 1.4 [{'connected_gene': 'GC14M103316', 'score': 550.77}, {'connected_gene': 'LOC105370686', 'score': 550.77}, {'connected_gene': 'LOC105378183', 'score': 550.77}, {'connected_gene': 'ENSG00000259775', 'score': 9.53}, {'connected_gene': 'TNFAIP2', 'score': 3.39}, {'connected_gene': 'EXOC3L4', 'score': 1.44}, {'connected_gene': 'RPL17P4', 'score': 0.29}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.