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
ENST00000331272 [[103370422, 103371167], [103371384, 103371526], [103372093, 103372234], [103384501, 103384567], [103427642, 103427737], [103432671, 103432804], [103433244, 103433430], [103436097, 103436193], [103454137, 103455016]] [[103371047, 103371167], [103371384, 103371526], [103372093, 103372234], [103384501, 103384567], [103427642, 103427737], [103432671, 103432804], [103433244, 103433430], [103436097, 103436193], [103454137, 103454397]]
ENST00000457105 [[103384503, 103384567], [103427642, 103427737], [103432671, 103432804], [103433244, 103433430], [103436097, 103436193], [103454996, 103455052]] None
ENST00000470093 [[103370422, 103371167], [103371384, 103371526], [103372093, 103372234], [103384501, 103386656]] None
ENST00000482428 [[103371413, 103371526], [103372093, 103372234], [103372760, 103372910]] None
ENST00000489578 [[103433321, 103433430], [103436097, 103436471]] None
NM_022039 [[103370420, 103371167], [103371384, 103371526], [103372093, 103372234], [103384501, 103384567], [103427642, 103427737], [103432671, 103432804], [103433244, 103433430], [103436097, 103436193], [103454137, 103454743]] [[103371047, 103371167], [103371384, 103371526], [103372093, 103372234], [103384501, 103384567], [103427642, 103427737], [103432671, 103432804], [103433244, 103433430], [103436097, 103436193], [103454137, 103454397]]
NR_136613 [[103370420, 103371167], [103371384, 103371526], [103372093, 103372234], [103384501, 103384567], [103432671, 103432804], [103433244, 103433430], [103436097, 103436193], [103454137, 103454743]] None
NM_001323541 [[103370420, 103371167], [103371384, 103371526], [103372093, 103372234], [103384501, 103384567], [103427642, 103427737], [103432671, 103432804], [103433244, 103433430], [103436097, 103436193], [103454996, 103455052]] [[103371047, 103371167], [103371384, 103371526], [103372093, 103372234], [103384501, 103384567], [103427642, 103427737], [103432671, 103432804], [103433244, 103433430]]
Promoter
Chrom Start End Description
chr10 103436465 103436468 CAGE_peak_3_at_FBXW4_5end
chr10 103454876 103454962 CAGE_peak_1_at_FBXW4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I101716 101716904 101717053 0.59 [{'connected_gene': 'FBXW4', 'score': 11.62}, {'connected_gene': 'POLL', 'score': 10.6}, {'connected_gene': 'DPCD', 'score': 10.58}, {'connected_gene': 'ENSG00000224817', 'score': 0.44}, {'connected_gene': 'LOC105378458', 'score': 0.23}]
chr10 GH10I101692 101692776 101695918 2.33 [{'connected_gene': 'FBXW4', 'score': 550.77}, {'connected_gene': 'PPRC1', 'score': 40.74}, {'connected_gene': 'GBF1', 'score': 32.68}, {'connected_gene': 'MRPL43', 'score': 30.36}, {'connected_gene': 'LDB1', 'score': 23.72}, {'connected_gene': 'ENSG00000272572', 'score': 22.8}, {'connected_gene': 'HPS6', 'score': 17.22}, {'connected_gene': 'TWNK', 'score': 10.82}, {'connected_gene': 'SUFU', 'score': 10.73}, {'connected_gene': 'LZTS2', 'score': 10.04}, {'connected_gene': 'C10orf76', 'score': 10.01}, {'connected_gene': 'PDZD7', 'score': 9.66}, {'connected_gene': 'BTRC', 'score': 5.64}, {'connected_gene': 'DPCD', 'score': 4.6}, {'connected_gene': 'MGEA5', 'score': 1.23}, {'connected_gene': 'RNU6-1165P', 'score': 0.19}]
chr10 GH10I101668 101668261 101668939 0.2 [{'connected_gene': 'FBXW4', 'score': 11.14}, {'connected_gene': 'FGF8', 'score': 10.6}, {'connected_gene': 'RNU6-1165P', 'score': 10.46}, {'connected_gene': 'POLL', 'score': 9.74}, {'connected_gene': 'DPCD', 'score': 9.72}]
chr10 GH10I101691 101691200 101691401 0.43 [{'connected_gene': 'FBXW4', 'score': 0.77}, {'connected_gene': 'RNU6-1165P', 'score': 0.2}]
chr10 GH10I101682 101682136 101683859 0.8 [{'connected_gene': 'FBXW4', 'score': 0.39}, {'connected_gene': 'RNU6-1165P', 'score': 0.21}]
chr10 GH10I101690 101690600 101690800 0.52 [{'connected_gene': 'FBXW4', 'score': 0.77}, {'connected_gene': 'RNU6-1165P', 'score': 0.2}]
chr10 GH10I101616 101616886 101618129 0.74 [{'connected_gene': 'DPCD', 'score': 16.08}, {'connected_gene': 'POLL', 'score': 11.12}, {'connected_gene': 'FGF8', 'score': 11.05}, {'connected_gene': 'BTRC', 'score': 9.4}, {'connected_gene': 'RNU6-1165P', 'score': 0.44}, {'connected_gene': 'MIR3158-2', 'score': 0.37}, {'connected_gene': 'FBXW4', 'score': 0.18}]
chr10 GH10I101725 101725852 101726422 0.31 [{'connected_gene': 'FGF8', 'score': 11.32}, {'connected_gene': 'FBXW4', 'score': 11.3}, {'connected_gene': 'POLL', 'score': 10.34}, {'connected_gene': 'DPCD', 'score': 10.32}, {'connected_gene': 'HPS6', 'score': 9.11}, {'connected_gene': 'ENSG00000224817', 'score': 0.37}, {'connected_gene': 'LOC105378458', 'score': 0.26}]
chr10 GH10I101364 101364264 101365122 1.28 [{'connected_gene': 'RNU2-59P', 'score': 550.77}, {'connected_gene': 'GC10M101365', 'score': 550.77}, {'connected_gene': 'PPRC1', 'score': 29.34}, {'connected_gene': 'HPS6', 'score': 26.96}, {'connected_gene': 'LDB1', 'score': 22.38}, {'connected_gene': 'GBF1', 'score': 20.35}, {'connected_gene': 'MRPL43', 'score': 9.7}, {'connected_gene': 'BTRC', 'score': 8.74}, {'connected_gene': 'FBXW4', 'score': 1.63}]
chr10 GH10I101655 101655704 101655833 0.2 [{'connected_gene': 'RNU6-1165P', 'score': 10.88}, {'connected_gene': 'FBXW4', 'score': 0.28}]
chr10 GH10I101642 101642663 101645492 0.43 [{'connected_gene': 'RNU6-1165P', 'score': 11.9}, {'connected_gene': 'POLL', 'score': 11.16}, {'connected_gene': 'DPCD', 'score': 11.13}, {'connected_gene': 'FGF8', 'score': 10.45}, {'connected_gene': 'RNU2-43P', 'score': 9.59}, {'connected_gene': 'HPS6', 'score': 6.5}, {'connected_gene': 'FBXW4', 'score': 0.23}]
chr10 GH10I101615 101615124 101615273 0.38 [{'connected_gene': 'RNU6-1165P', 'score': 0.44}, {'connected_gene': 'MIR3158-2', 'score': 0.39}, {'connected_gene': 'FBXW4', 'score': 0.18}]
chr10 GH10I101610 101610967 101612660 0.43 [{'connected_gene': 'MIR3158-2', 'score': 0.39}, {'connected_gene': 'RNU6-1165P', 'score': 0.39}, {'connected_gene': 'FBXW4', 'score': 0.18}]