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
ENST00000428149 [[107373451, 107375941], [107381612, 107381762], [107393024, 107393281], [107396166, 107396318], [107403025, 107403132], [107420478, 107420549], [107422533, 107422638], [107423833, 107423929], [107424572, 107424704], [107427491, 107427729], [107431490, 107431625], [107436326, 107436472]] [[107375383, 107375941], [107381612, 107381762], [107393024, 107393281], [107396166, 107396318], [107403025, 107403132], [107420478, 107420549], [107422533, 107422638], [107423833, 107423929], [107424572, 107424704], [107427491, 107427729], [107431490, 107431619]]
ENST00000429370 [[107373754, 107375266], [107422590, 107422638], [107423833, 107423929], [107424572, 107424704], [107427491, 107427729], [107431490, 107431625], [107436326, 107436461]] [[107375234, 107375266], [107422590, 107422638], [107423833, 107423929], [107424572, 107424704], [107427491, 107427729], [107431490, 107431619]]
ENST00000389568 [[107375320, 107375941], [107381612, 107381762], [107393024, 107393281], [107396166, 107396318], [107403025, 107403132], [107420478, 107420549], [107422533, 107422638], [107423833, 107423929], [107424572, 107424704], [107427491, 107427729], [107431490, 107431625], [107433424, 107433542], [107434272, 107434462], [107435887, 107435940], [107436178, 107436244]] [[107375383, 107375941], [107381612, 107381762], [107393024, 107393281], [107396166, 107396318], [107403025, 107403132], [107420478, 107420549], [107422533, 107422638], [107423833, 107423929], [107424572, 107424704], [107427491, 107427729], [107431490, 107431619]]
ENST00000260318 [[107375323, 107375941], [107396166, 107396318], [107403025, 107403132], [107422533, 107422638], [107423833, 107423929], [107424572, 107424704], [107427491, 107427729], [107431490, 107431625], [107436326, 107436427]] [[107403115, 107403132], [107422533, 107422638], [107423833, 107423929], [107424572, 107424704], [107427491, 107427729], [107431490, 107431619]]
ENST00000417449 [[107375383, 107375941], [107381612, 107381762], [107393024, 107393281], [107396166, 107396318], [107403025, 107403132], [107420478, 107420549], [107422533, 107422638], [107423833, 107423929], [107424572, 107424704], [107427491, 107427729], [107431490, 107431625], [107436355, 107436468]] [[107375383, 107375941], [107381612, 107381762], [107393024, 107393281], [107396166, 107396318], [107403025, 107403132], [107420478, 107420549], [107422533, 107422638], [107423833, 107423929], [107424572, 107424704], [107427491, 107427729], [107431490, 107431625], [107436355, 107436358]]
ENST00000393100 [[107403039, 107403132], [107420478, 107420549], [107422533, 107422638], [107423833, 107423929], [107424572, 107424699], [107427491, 107427729], [107431490, 107431625], [107436326, 107436460]] [[107424631, 107424699], [107427491, 107427729], [107431490, 107431619]]
ENST00000530933 [[107424582, 107424699], [107427491, 107427729], [107431490, 107431625], [107436355, 107436459]] None
NM_138775 [[107373452, 107375941], [107381612, 107381762], [107393024, 107393281], [107396166, 107396318], [107403025, 107403132], [107420478, 107420549], [107422533, 107422638], [107423833, 107423929], [107424572, 107424704], [107427491, 107427729], [107431490, 107431625], [107436326, 107436461]] [[107375383, 107375941], [107381612, 107381762], [107393024, 107393281], [107396166, 107396318], [107403025, 107403132], [107420478, 107420549], [107422533, 107422638], [107423833, 107423929], [107424572, 107424704], [107427491, 107427729], [107431490, 107431619]]
NM_001301010 [[107373452, 107375941], [107381612, 107381762], [107393024, 107393281], [107396166, 107396318], [107403025, 107403132], [107420478, 107420549], [107422533, 107422638], [107423833, 107423929], [107424572, 107424704], [107427491, 107427729], [107431490, 107431625], [107436355, 107436461]] [[107375383, 107375941], [107381612, 107381762], [107393024, 107393281], [107396166, 107396318], [107403025, 107403132], [107420478, 107420549], [107422533, 107422638], [107423833, 107423929], [107424572, 107424704], [107427491, 107427729], [107431490, 107431625], [107436355, 107436358]]
Promoter
Chrom Start End Description
chr11 107436443 107436472 CAGE_peak_1_at_ALKBH8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I107689 107689558 107690000 0.87 [{'connected_gene': 'ALKBH8', 'score': 12.18}, {'connected_gene': 'ELMOD1', 'score': 11.19}, {'connected_gene': 'SLN', 'score': 0.31}, {'connected_gene': 'ENSG00000254758', 'score': 0.25}]
chr11 GH11I107691 107691095 107691244 0.85 [{'connected_gene': 'ALKBH8', 'score': 12.18}, {'connected_gene': 'ELMOD1', 'score': 10.95}, {'connected_gene': 'SLN', 'score': 0.31}, {'connected_gene': 'ENSG00000254758', 'score': 0.25}]
chr11 GH11I107544 107544056 107546212 0.59 [{'connected_gene': 'ALKBH8', 'score': 11.41}, {'connected_gene': 'ELMOD1', 'score': 11.03}, {'connected_gene': 'LOC105369477', 'score': 4.89}, {'connected_gene': 'CWF19L2', 'score': 0.17}]
chr11 GH11I107564 107564676 107566955 2.03 [{'connected_gene': 'ALKBH8', 'score': 550.77}, {'connected_gene': 'NPAT', 'score': 9.85}, {'connected_gene': 'SUCLG2P3', 'score': 0.34}]
chr11 GH11I108008 108008195 108011310 2.28 [{'connected_gene': 'CUL5', 'score': 550.77}, {'connected_gene': 'NPAT', 'score': 23.73}, {'connected_gene': 'CWF19L2', 'score': 13.15}, {'connected_gene': 'ALKBH8', 'score': 12.38}, {'connected_gene': 'DDX10', 'score': 11.58}, {'connected_gene': 'KDELC2', 'score': 10.92}, {'connected_gene': 'ACAT1', 'score': 9.73}, {'connected_gene': 'GC11P108085', 'score': 0.18}]
chr11 GH11I107692 107692438 107693926 0.31 [{'connected_gene': 'SLN', 'score': 12.28}, {'connected_gene': 'ALKBH8', 'score': 12.18}, {'connected_gene': 'ELMOD1', 'score': 10.95}, {'connected_gene': 'SLC35F2', 'score': 6.32}, {'connected_gene': 'ENSG00000254758', 'score': 0.25}]
chr11 GH11I107695 107695323 107697405 1.06 [{'connected_gene': 'SLN', 'score': 12.31}, {'connected_gene': 'ALKBH8', 'score': 11.21}, {'connected_gene': 'ELMOD1', 'score': 10.76}, {'connected_gene': 'SLC35F2', 'score': 5.45}, {'connected_gene': 'ENSG00000254758', 'score': 0.23}]
chr11 GH11I107561 107561096 107564521 0.98 [{'connected_gene': 'ELMOD1', 'score': 15.34}, {'connected_gene': 'ALKBH8', 'score': 0.77}, {'connected_gene': 'CWF19L2', 'score': 0.15}]
chr11 GH11I107549 107549375 107549484 0.56 [{'connected_gene': 'ELMOD1', 'score': 11.04}, {'connected_gene': 'LOC105369477', 'score': 4.68}, {'connected_gene': 'ALKBH8', 'score': 0.37}, {'connected_gene': 'CWF19L2', 'score': 0.16}]
chr11 GH11I107927 107927601 107929601 1.96 [{'connected_gene': 'SLC35F2', 'score': 556.71}, {'connected_gene': 'RAB39A', 'score': 550.77}, {'connected_gene': 'NPAT', 'score': 34.06}, {'connected_gene': 'CWF19L2', 'score': 19.15}, {'connected_gene': 'CUL5', 'score': 10.34}, {'connected_gene': 'ALKBH8', 'score': 10.02}, {'connected_gene': 'DDX10', 'score': 9.91}, {'connected_gene': 'ASS1P13', 'score': 5.39}]
chr11 GH11I107583 107583955 107584104 0.2 [{'connected_gene': 'SUCLG2P3', 'score': 0.77}, {'connected_gene': 'ALKBH8', 'score': 0.37}]

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