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
ENST00000263733 [[178995030, 178995233], [179012849, 179013359], [179019413, 179019500], [179023663, 179023773], [179033061, 179033233], [179033439, 179033631], [179035934, 179035994], [179041047, 179045697]] [[179012982, 179013359], [179019413, 179019500], [179023663, 179023773], [179033061, 179033233], [179033439, 179033631], [179035934, 179035994], [179041047, 179041279]]
ENST00000440702 [[178994938, 178994993], [179012849, 179013359], [179019413, 179019451]] [[179012982, 179013359], [179019413, 179019451]]
NM_001324310 [[178994938, 178994993], [179012849, 179013359], [179019413, 179019500], [179023663, 179023773], [179033061, 179033233], [179033439, 179033631], [179035934, 179035994], [179041047, 179045709]] [[179012982, 179013359], [179019413, 179019500], [179023663, 179023773], [179033061, 179033233], [179033439, 179033631], [179035934, 179035994], [179041047, 179041279]]
NM_014864 [[178995073, 178995233], [179012849, 179013359], [179019413, 179019500], [179023663, 179023773], [179033061, 179033233], [179033439, 179033631], [179035934, 179035994], [179041047, 179045702]] [[179012982, 179013359], [179019413, 179019500], [179023663, 179023773], [179033061, 179033233], [179033439, 179033631], [179035934, 179035994], [179041047, 179041279]]
NM_001324311 [[178995258, 178995323], [179012849, 179013359], [179019413, 179019500], [179023663, 179023773], [179033061, 179033233], [179033439, 179033631], [179035934, 179035994], [179041047, 179045709]] [[179012982, 179013359], [179019413, 179019500], [179023663, 179023773], [179033061, 179033233], [179033439, 179033631], [179035934, 179035994], [179041047, 179041279]]
Promoter
Chrom Start End Description
chr1 178994981 178995006 CAGE_peak_3_at_FAM20B_5end
chr1 178995021 178995072 CAGE_peak_1_at_FAM20B_5end
chr1 178995081 178995099 CAGE_peak_4_at_FAM20B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I179058 179058172 179059756 1.14 [{'connected_gene': 'FAM20B', 'score': 5.28}, {'connected_gene': 'GC01M179070', 'score': 0.39}, {'connected_gene': 'RPS26P16', 'score': 0.34}]
chr1 GH01I179047 179046920 179048175 1.21 [{'connected_gene': 'FAM20B', 'score': 15.83}, {'connected_gene': 'TOR3A', 'score': 7.89}, {'connected_gene': 'RPS26P16', 'score': 0.39}, {'connected_gene': 'GC01M179070', 'score': 0.34}]
chr1 GH01I179060 179060174 179062005 0.91 [{'connected_gene': 'FAM20B', 'score': 16.65}, {'connected_gene': 'TOR3A', 'score': 13.03}, {'connected_gene': 'GC01M179070', 'score': 0.39}, {'connected_gene': 'RPS26P16', 'score': 0.31}]
chr1 GH01I179046 179046577 179046896 1.03 [{'connected_gene': 'FAM20B', 'score': 14.08}, {'connected_gene': 'TOR3A', 'score': 6.38}, {'connected_gene': 'RPS26P16', 'score': 0.39}, {'connected_gene': 'GC01M179070', 'score': 0.34}]
chr1 GH01I179023 179023959 179027827 2.55 [{'connected_gene': 'FAM20B', 'score': 563.28}, {'connected_gene': 'TOR3A', 'score': 24.59}, {'connected_gene': 'RALGPS2', 'score': 10.45}, {'connected_gene': 'CEP350', 'score': 10.13}, {'connected_gene': 'AXDND1', 'score': 3.22}, {'connected_gene': 'GC01M179035', 'score': 0.44}, {'connected_gene': 'GC01P179007', 'score': 0.37}]
chr1 GH01I178789 178789797 178790134 0.42 [{'connected_gene': 'FAM20B', 'score': 10.95}, {'connected_gene': 'C1orf220', 'score': 10.39}, {'connected_gene': 'ANGPTL1', 'score': 5.65}, {'connected_gene': 'GC01M178803', 'score': 0.37}, {'connected_gene': 'ENSG00000201791', 'score': 0.28}, {'connected_gene': 'GC01M178756', 'score': 0.28}, {'connected_gene': 'RALGPS2', 'score': 0.21}]
chr1 GH01I179029 179029001 179029814 1.06 [{'connected_gene': 'FAM20B', 'score': 0.77}, {'connected_gene': 'GC01M179035', 'score': 0.44}, {'connected_gene': 'GC01P179007', 'score': 0.34}]
chr1 GH01I179030 179030401 179030600 0.31 [{'connected_gene': 'FAM20B', 'score': 0.77}, {'connected_gene': 'GC01M179035', 'score': 0.44}, {'connected_gene': 'GC01P179007', 'score': 0.34}]
chr1 GH01I179032 179032146 179032535 0.81 [{'connected_gene': 'FAM20B', 'score': 15.3}, {'connected_gene': 'GC01M179035', 'score': 0.77}, {'connected_gene': 'GC01P179007', 'score': 0.31}]
chr1 GH01I179017 179016186 179016195 0.2 [{'connected_gene': 'FAM20B', 'score': 0.44}, {'connected_gene': 'GC01P179007', 'score': 0.44}]
chr1 GH01I178790 178790635 178804476 0.6 [{'connected_gene': 'ANGPTL1', 'score': 18.89}, {'connected_gene': 'FAM20B', 'score': 10.96}, {'connected_gene': 'C1orf220', 'score': 10.9}, {'connected_gene': 'CLEC20A', 'score': 4.81}, {'connected_gene': 'CRYZL2P', 'score': 4.78}, {'connected_gene': 'RALGPS2', 'score': 4.31}, {'connected_gene': 'GC01M178803', 'score': 0.44}, {'connected_gene': 'ENSG00000201791', 'score': 0.26}, {'connected_gene': 'GC01M178756', 'score': 0.26}]
chr1 GH01I178549 178549280 178553745 0.77 [{'connected_gene': 'TEX35', 'score': 14.73}, {'connected_gene': 'CLEC20A', 'score': 9.95}, {'connected_gene': 'FAM20B', 'score': 9.92}, {'connected_gene': 'RALGPS2', 'score': 4.79}, {'connected_gene': 'GC01P178561', 'score': 0.44}, {'connected_gene': 'C1orf220', 'score': 0.44}]
chr1 GH01I179037 179037906 179038055 0.54 [{'connected_gene': 'RPS26P16', 'score': 0.77}, {'connected_gene': 'FAM20B', 'score': 0.39}, {'connected_gene': 'GC01M179070', 'score': 0.29}]
chr1 GH01I179036 179036688 179037801 0.89 [{'connected_gene': 'RPS26P16', 'score': 550.77}, {'connected_gene': 'GC01M179035', 'score': 550.77}, {'connected_gene': 'TOR3A', 'score': 16.25}, {'connected_gene': 'FAM20B', 'score': 0.39}, {'connected_gene': 'GC01M179070', 'score': 0.29}]
chr1 GH01I179033 179033908 179035599 0.93 [{'connected_gene': 'RPS26P16', 'score': 550.77}, {'connected_gene': 'GC01M179035', 'score': 550.77}, {'connected_gene': 'TOR3A', 'score': 14.37}, {'connected_gene': 'FAM20B', 'score': 0.44}, {'connected_gene': 'GC01P179007', 'score': 0.31}]
chr1 GH01I179038 179038200 179039604 0.91 [{'connected_gene': 'TOR3A', 'score': 7.7}, {'connected_gene': 'FAM20B', 'score': 5.63}, {'connected_gene': 'RPS26P16', 'score': 0.77}, {'connected_gene': 'GC01M179070', 'score': 0.29}]
chr1 GH01I179016 179016242 179019423 1.41 [{'connected_gene': 'TOR3A', 'score': 13.85}, {'connected_gene': 'FAM20B', 'score': 13.29}, {'connected_gene': 'C1orf220', 'score': 10.62}, {'connected_gene': 'GC01P179007', 'score': 0.39}]
chr1 GH01I179040 179040004 179040390 0.83 [{'connected_gene': 'TOR3A', 'score': 7.7}, {'connected_gene': 'RPS26P16', 'score': 0.77}, {'connected_gene': 'FAM20B', 'score': 0.39}, {'connected_gene': 'GC01M179070', 'score': 0.29}]
chr1 GH01I179021 179021520 179022616 0.8 [{'connected_gene': 'TOR3A', 'score': 14.53}, {'connected_gene': 'C1orf220', 'score': 10.36}, {'connected_gene': 'FAM20B', 'score': 5.59}, {'connected_gene': 'GC01P179007', 'score': 0.39}]
chr1 GH01I179163 179163090 179166382 0.76 [{'connected_gene': 'TOR3A', 'score': 17.46}, {'connected_gene': 'ENSG00000212338', 'score': 11.92}, {'connected_gene': 'EIF4A1P11', 'score': 11.91}, {'connected_gene': 'ENSG00000201619', 'score': 11.91}, {'connected_gene': 'ENSG00000261060', 'score': 5.6}, {'connected_gene': 'FAM20B', 'score': 5.34}, {'connected_gene': 'AXDND1', 'score': 4.56}, {'connected_gene': 'SETP10', 'score': 0.37}, {'connected_gene': 'ENSG00000234041', 'score': 0.31}, {'connected_gene': 'ABL2', 'score': 0.21}]
chr1 GH01I179002 179002294 179004756 1.09 [{'connected_gene': 'C1orf220', 'score': 11.79}, {'connected_gene': 'TOR3A', 'score': 11.49}, {'connected_gene': 'FAM20B', 'score': 4.77}, {'connected_gene': 'GC01P179007', 'score': 0.77}, {'connected_gene': 'LOC102724754', 'score': 0.21}]
chr1 GH01I179174 179174659 179177599 0.92 [{'connected_gene': 'AXDND1', 'score': 15.3}, {'connected_gene': 'TOR3A', 'score': 13.83}, {'connected_gene': 'ENSG00000212338', 'score': 12.75}, {'connected_gene': 'EIF4A1P11', 'score': 12.72}, {'connected_gene': 'ENSG00000201619', 'score': 12.72}, {'connected_gene': 'FAM20B', 'score': 3.89}, {'connected_gene': 'SETP10', 'score': 0.44}, {'connected_gene': 'ENSG00000234041', 'score': 0.28}, {'connected_gene': 'ABL2', 'score': 0.23}]
chr1 GH01I179015 179015298 179015813 0.71 [{'connected_gene': 'GC01P179007', 'score': 0.44}, {'connected_gene': 'FAM20B', 'score': 0.39}]

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