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
ENST00000520167 [[74884671, 74884856], [74888064, 74888196], [74890990, 74891096], [74891313, 74891369]] None
ENST00000523794 [[74884786, 74885228], [74888064, 74888196], [74888539, 74888726]] None
ENST00000416961 [[74888429, 74888726], [74890990, 74891096], [74891313, 74891406], [74893389, 74893821]] [[74888516, 74888726], [74890990, 74891096], [74891313, 74891333]]
ENST00000517439 [[74888441, 74888726], [74890990, 74891110], [74893389, 74893601]] [[74888516, 74888726], [74890990, 74891104]]
ENST00000312184 [[74888443, 74888726], [74890990, 74891096], [74893389, 74895018]] [[74888516, 74888726], [74890990, 74891096], [74893389, 74893856]]
ENST00000517614 [[74888453, 74888726], [74890990, 74891256]] None
ENST00000519551 [[74890982, 74891096], [74891313, 74891406], [74893389, 74893716]] None
NM_017866 [[74888376, 74888726], [74890990, 74891096], [74893389, 74895018]] [[74888516, 74888726], [74890990, 74891096], [74893389, 74893856]]
NR_033334 [[74888376, 74888726], [74890990, 74891096], [74891313, 74891406], [74893389, 74895018]] None
NM_001040613 [[74888376, 74888726], [74890990, 74891110], [74893389, 74895018]] [[74888516, 74888726], [74890990, 74891104]]
Promoter
Chrom Start End Description
chr8 74888417 74888485 CAGE_peak_1_at_TMEM70_5end
chr8 74888516 74888527 CAGE_peak_3_at_TMEM70_5end
chr8 74888542 74888594 CAGE_peak_2_at_TMEM70_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 GH08I073975 73975404 73977801 1.98 [{'connected_gene': 'TMEM70', 'score': 575.7}, {'connected_gene': 'RPL7', 'score': 21.44}, {'connected_gene': 'ENSG00000253341', 'score': 13.13}, {'connected_gene': 'ENSG00000272254', 'score': 11.03}, {'connected_gene': 'UBE2W', 'score': 10.35}, {'connected_gene': 'GC08M073979', 'score': 0.77}]
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 GH08I074008 74008353 74009615 0.38 [{'connected_gene': 'TMEM70', 'score': 7.35}, {'connected_gene': 'LY96', 'score': 0.37}, {'connected_gene': 'GC08M074003', 'score': 0.34}]
chr8 GH08I074014 74014378 74014506 0.27 [{'connected_gene': 'LY96', 'score': 3.89}, {'connected_gene': 'UBE2W', 'score': 2.96}, {'connected_gene': 'TMEM70', 'score': 2.28}, {'connected_gene': 'GC08M074003', 'score': 0.39}]
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 GH08I073990 73990591 73992966 1.83 [{'connected_gene': 'LY96', 'score': 550.77}, {'connected_gene': 'TMEM70', 'score': 21.21}, {'connected_gene': 'GC08M074003', 'score': 0.28}]
chr8 GH08I074048 74048186 74049199 0.96 [{'connected_gene': 'RNU6-1300P', 'score': 550.77}, {'connected_gene': 'RPL7', 'score': 11.37}, {'connected_gene': 'ENSG00000253341', 'score': 9.88}, {'connected_gene': 'TMEM70', 'score': 5.36}, {'connected_gene': 'ENSG00000254288', 'score': 0.77}]
chr8 GH08I073984 73984765 73985777 0.52 [{'connected_gene': 'DSTNP3', 'score': 550.77}, {'connected_gene': 'TMEM70', 'score': 7.8}, {'connected_gene': 'LY96', 'score': 0.44}]
chr8 GH08I074051 74051195 74052939 0.87 [{'connected_gene': 'ENSG00000254288', 'score': 550.77}, {'connected_gene': 'TMEM70', 'score': 5.04}, {'connected_gene': 'RNU6-1300P', 'score': 0.77}]
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}]