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
ENST00000602840 [[74851403, 74853840], [74868145, 74868289], [74871999, 74872053], [74884276, 74884421]] [[74853790, 74853840], [74868145, 74868289], [74871999, 74872003]]
ENST00000518127 [[74857353, 74859055], [74868145, 74868289], [74871999, 74872053], [74884479, 74884522]] [[74858864, 74859055], [74868145, 74868289], [74871999, 74872003]]
ENST00000520210 [[74857842, 74859055], [74868145, 74868289], [74884311, 74884405]] [[74858864, 74859055], [74868145, 74868245]]
ENST00000520242 [[74857851, 74859055], [74868145, 74868289], [74871999, 74872053], [74884311, 74884482]] [[74858864, 74859055], [74868145, 74868289], [74871999, 74872003]]
ENST00000519487 [[74858498, 74859055], [74868145, 74868289], [74871999, 74872053], [74882813, 74882872]] [[74858864, 74859055], [74868145, 74868289], [74871999, 74872003]]
ENST00000284811 [[74858635, 74859055], [74868145, 74868289], [74871999, 74872053], [74884276, 74884341]] [[74858864, 74859055], [74868145, 74868289], [74871999, 74872003]]
ENST00000522337 [[74858707, 74859055], [74868145, 74868289], [74871999, 74872053], [74881794, 74881908], [74884311, 74884467]] [[74858864, 74859055], [74868145, 74868289], [74871999, 74872003]]
ENST00000523815 [[74858768, 74859055], [74868145, 74868289], [74871999, 74872053], [74876721, 74876860], [74882813, 74882869], [74884104, 74884143]] [[74858864, 74859055], [74868145, 74868289], [74871999, 74872003]]
ENST00000519082 [[74858934, 74859055], [74868145, 74868289], [74871999, 74872053], [74876721, 74876860], [74884311, 74884487]] [[74858934, 74859055], [74868145, 74868289], [74871999, 74872003]]
NM_001204861 [[74857372, 74859055], [74868145, 74868289], [74871999, 74872053], [74876721, 74876860], [74882813, 74882869], [74884104, 74884143]] [[74858864, 74859055], [74868145, 74868289], [74871999, 74872003]]
NM_001204862 [[74857372, 74859055], [74868145, 74868289], [74871999, 74872053], [74882813, 74882869], [74884104, 74884143]] [[74858864, 74859055], [74868145, 74868289], [74871999, 74872003]]
NM_001204858 [[74857372, 74859055], [74868145, 74868289], [74871999, 74872053], [74876721, 74876864], [74884311, 74884522]] [[74858864, 74859055], [74868145, 74868289], [74871999, 74872003]]
NM_001204859 [[74857372, 74859055], [74868145, 74868289], [74871999, 74872053], [74876721, 74876860], [74884311, 74884522]] [[74858864, 74859055], [74868145, 74868289], [74871999, 74872003]]
NM_005648 [[74857372, 74859055], [74868145, 74868289], [74871999, 74872053], [74884311, 74884522]] [[74858864, 74859055], [74868145, 74868289], [74871999, 74872003]]
NM_001204863 [[74857372, 74859055], [74868145, 74868289], [74884311, 74884522]] [[74858864, 74859055], [74868145, 74868245]]
NM_001204860 [[74857372, 74859055], [74868145, 74868289], [74871999, 74872053], [74876721, 74876860], [74884479, 74884522]] [[74858864, 74859055], [74868145, 74868289], [74871999, 74872003]]
NM_001204857 [[74857372, 74859055], [74868145, 74868289], [74871999, 74872053], [74884479, 74884522]] [[74858864, 74859055], [74868145, 74868289], [74871999, 74872003]]
NM_001204864 [[74857372, 74859055], [74868145, 74868289], [74884479, 74884522]] [[74858864, 74859055], [74868145, 74868245]]
Promoter
Chrom Start End Description
chr8 74884343 74884390 CAGE_peak_2_at_TCEB1_5end
chr8 74884399 74884436 CAGE_peak_1_at_TCEB1_5end
chr8 74884440 74884451 CAGE_peak_5_at_TCEB1_5end
chr8 74884459 74884469 CAGE_peak_6_at_TCEB1_5end
chr8 74884483 74884494 CAGE_peak_7_at_TCEB1_5end
chr8 74884496 74884509 CAGE_peak_4_at_TCEB1_5end
chr8 74884511 74884546 CAGE_peak_3_at_TCEB1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I073956 73956035 73956094 0.5 [{'connected_gene': 'ELOC', 'score': 550.37}, {'connected_gene': 'TMEM70', 'score': 13.08}, {'connected_gene': 'GC08P073966', 'score': 0.39}, {'connected_gene': 'GC08M073941', 'score': 0.37}, {'connected_gene': 'GC08P073922', 'score': 0.29}]
chr8 GH08I073876 73876833 73880570 2.04 [{'connected_gene': 'UBE2W', 'score': 557.24}, {'connected_gene': 'ENSG00000258677', 'score': 550.77}, {'connected_gene': 'LINC01617', 'score': 550.77}, {'connected_gene': 'TMEM70', 'score': 10.37}, {'connected_gene': 'ELOC', 'score': 10.37}, {'connected_gene': 'RN7SL760P', 'score': 0.26}]
chr8 GH08I073970 73970118 73973723 2.08 [{'connected_gene': 'TMEM70', 'score': 563.15}, {'connected_gene': 'GC08M073941', 'score': 550.77}, {'connected_gene': 'ELOC', 'score': 550.77}, {'connected_gene': 'ENSG00000253341', 'score': 11.53}, {'connected_gene': 'RPL7', 'score': 10.78}, {'connected_gene': 'GC08P073966', 'score': 0.44}]
chr8 GH08I073887 73887909 73888614 0.49 [{'connected_gene': 'TMEM70', 'score': 10.48}, {'connected_gene': 'ELOC', 'score': 10.48}, {'connected_gene': 'STAU2', 'score': 10.3}, {'connected_gene': 'UBE2W', 'score': 6.89}, {'connected_gene': 'LINC01617', 'score': 0.44}, {'connected_gene': 'PIR51756', 'score': 0.37}]
chr8 GH08I073892 73892828 73893235 0.85 [{'connected_gene': 'TMEM70', 'score': 10.48}, {'connected_gene': 'ELOC', 'score': 10.48}, {'connected_gene': 'STAU2', 'score': 10.42}, {'connected_gene': 'ENSG00000253596', 'score': 9.42}, {'connected_gene': 'GDAP1', 'score': 9.42}, {'connected_gene': 'UBE2W', 'score': 5.76}, {'connected_gene': 'PIR51756', 'score': 0.39}, {'connected_gene': 'LINC01617', 'score': 0.39}]
chr8 GH08I073994 73994801 73995840 0.2 [{'connected_gene': 'TMEM70', 'score': 24.45}, {'connected_gene': 'ELOC', 'score': 11.94}, {'connected_gene': 'LY96', 'score': 0.77}, {'connected_gene': 'GC08M074003', 'score': 0.29}]
chr8 GH08I074032 74032816 74033717 0.2 [{'connected_gene': 'TMEM70', 'score': 16.55}, {'connected_gene': 'LY96', 'score': 11.03}, {'connected_gene': 'ELOC', 'score': 10.49}, {'connected_gene': 'GC08M074003', 'score': 0.77}, {'connected_gene': 'RNU6-1300P', 'score': 0.37}]
chr8 GH08I074033 74032546 74032695 0.2 [{'connected_gene': 'LY96', 'score': 11.03}, {'connected_gene': 'TMEM70', 'score': 10.49}, {'connected_gene': 'ELOC', 'score': 10.49}, {'connected_gene': 'GDAP1', 'score': 4.61}, {'connected_gene': 'GC08M074003', 'score': 0.77}, {'connected_gene': 'RNU6-1300P', 'score': 0.37}]
chr8 GH08I073966 73966801 73967000 0.31 [{'connected_gene': 'GC08P073966', 'score': 550.77}, {'connected_gene': 'LY96', 'score': 10.6}, {'connected_gene': 'UBE2W', 'score': 10.5}, {'connected_gene': 'GC08M073941', 'score': 0.44}, {'connected_gene': 'ELOC', 'score': 0.44}]
chr8 GH08I073967 73966406 73966555 0.57 [{'connected_gene': 'GC08P073966', 'score': 550.77}, {'connected_gene': 'LY96', 'score': 10.6}, {'connected_gene': 'UBE2W', 'score': 10.5}, {'connected_gene': 'TMEM70', 'score': 6.19}, {'connected_gene': 'GC08M073941', 'score': 0.44}, {'connected_gene': 'ELOC', 'score': 0.44}]

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