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
ENST00000227638 [[93862093, 93862659], [93886656, 93886796], [93911534, 93911758], [93912767, 93913423], [93913955, 93915138]] [[93862478, 93862659], [93886656, 93886796], [93911534, 93911758], [93912767, 93913423], [93913955, 93914035]]
ENST00000436171 [[93862094, 93862659], [93886656, 93886796], [93911534, 93911758], [93912767, 93913423], [93913967, 93915132]] [[93862478, 93862659], [93886656, 93886796], [93911534, 93911758], [93912767, 93913423], [93913967, 93914035]]
NM_015368 [[93862093, 93862659], [93886656, 93886796], [93911534, 93911758], [93912767, 93913423], [93913955, 93915138]] [[93862478, 93862659], [93886656, 93886796], [93911534, 93911758], [93912767, 93913423], [93913955, 93914035]]
Promoter
Chrom Start End Description
chr11 93861993 93862102 CAGE_peak_1_at_PANX1_5end
chr11 93862107 93862149 CAGE_peak_3_at_PANX1_5end
chr11 93862245 93862344 CAGE_peak_2_at_PANX1_5end
chr11 93862422 93862441 CAGE_peak_4_at_PANX1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I094539 94539160 94540229 0.51 [{'connected_gene': 'MRE11', 'score': 19.09}, {'connected_gene': 'ANKRD49', 'score': 10.33}, {'connected_gene': 'ENSG00000255893', 'score': 9.98}, {'connected_gene': 'PANX1', 'score': 8.04}, {'connected_gene': 'PIWIL4', 'score': 0.77}, {'connected_gene': 'FUT4', 'score': 0.77}, {'connected_gene': 'C11orf97', 'score': 0.31}]
chr11 GH11I094583 94583201 94584869 1.41 [{'connected_gene': 'MRE11', 'score': 7.65}, {'connected_gene': 'ENSG00000255893', 'score': 5.75}, {'connected_gene': 'FUT4', 'score': 5.25}, {'connected_gene': 'ANKRD49', 'score': 2.66}, {'connected_gene': 'PANX1', 'score': 1.75}, {'connected_gene': 'GC11M094556', 'score': 0.34}, {'connected_gene': 'PIWIL4', 'score': 0.26}, {'connected_gene': 'LOC105369436', 'score': 0.23}, {'connected_gene': 'LOC105369438', 'score': 0.1}]
chr11 GH11I093849 93849300 93850844 1.64 [{'connected_gene': 'VSTM5', 'score': 559.18}, {'connected_gene': 'PANX1', 'score': 6.12}, {'connected_gene': 'ENSG00000206911', 'score': 0.34}]
chr11 GH11I093938 93938470 93940833 0.52 [{'connected_gene': 'HEPHL1', 'score': 7.08}, {'connected_gene': 'PANX1', 'score': 5.99}, {'connected_gene': 'LOC105369435', 'score': 4.19}, {'connected_gene': 'PIR53523', 'score': 0.37}, {'connected_gene': 'GC11M093931', 'score': 0.31}]
chr11 GH11I094046 94046506 94047167 0.82 [{'connected_gene': 'HEPHL1', 'score': 12.28}, {'connected_gene': 'PANX1', 'score': 6.77}, {'connected_gene': 'PHBP16', 'score': 0.44}, {'connected_gene': 'GC11M094026', 'score': 0.37}]
chr11 GH11I094148 94148764 94154380 1.33 [{'connected_gene': 'HEPHL1', 'score': 13.71}, {'connected_gene': 'PANX1', 'score': 11.75}, {'connected_gene': 'PIR47114', 'score': 0.34}, {'connected_gene': 'GC11P094183', 'score': 0.29}]
chr11 GH11I093922 93922410 93923741 0.8 [{'connected_gene': 'HEPHL1', 'score': 15.94}, {'connected_gene': 'PANX1', 'score': 4.62}, {'connected_gene': 'PIR53523', 'score': 0.77}, {'connected_gene': 'GC11M093931', 'score': 0.26}]
chr11 GH11I093947 93947775 93948974 0.64 [{'connected_gene': 'HEPHL1', 'score': 11.2}, {'connected_gene': 'PANX1', 'score': 5.57}, {'connected_gene': 'GC11M093931', 'score': 0.37}, {'connected_gene': 'PIR53523', 'score': 0.31}]
chr11 GH11I094171 94171755 94172948 0.59 [{'connected_gene': 'HEPHL1', 'score': 13.32}, {'connected_gene': 'PANX1', 'score': 12.67}, {'connected_gene': 'GC11P094183', 'score': 0.39}, {'connected_gene': 'PIR47114', 'score': 0.26}]
chr11 GH11I094147 94147601 94147800 0.52 [{'connected_gene': 'HEPHL1', 'score': 13.7}, {'connected_gene': 'PIR47114', 'score': 0.37}, {'connected_gene': 'PANX1', 'score': 0.37}, {'connected_gene': 'GC11P094183', 'score': 0.28}]
chr11 GH11I094144 94144201 94144600 0.38 [{'connected_gene': 'HEPHL1', 'score': 13.91}, {'connected_gene': 'PIR47114', 'score': 0.39}, {'connected_gene': 'PANX1', 'score': 0.37}, {'connected_gene': 'GC11P094183', 'score': 0.28}]
chr11 GH11I094140 94140988 94142998 1.15 [{'connected_gene': 'HEPHL1', 'score': 13.28}, {'connected_gene': 'PIR47114', 'score': 0.39}, {'connected_gene': 'PANX1', 'score': 0.39}, {'connected_gene': 'GC11P094183', 'score': 0.26}]
chr11 GH11I094127 94127285 94137684 2.78 [{'connected_gene': 'PANX1', 'score': 574.06}, {'connected_gene': 'MED17', 'score': 43.25}, {'connected_gene': 'ANKRD49', 'score': 30.69}, {'connected_gene': 'MRE11', 'score': 26.25}, {'connected_gene': 'SNORA1', 'score': 23.78}, {'connected_gene': 'HEPHL1', 'score': 17.55}, {'connected_gene': 'FUT4', 'score': 2.13}, {'connected_gene': 'PIR47114', 'score': 0.77}, {'connected_gene': 'GC11P094183', 'score': 0.23}]
chr11 GH11I094174 94174966 94176135 0.2 [{'connected_gene': 'PANX1', 'score': 14.23}, {'connected_gene': 'LOC105369435', 'score': 12.4}, {'connected_gene': 'HEPHL1', 'score': 7.43}, {'connected_gene': 'GC11P094183', 'score': 0.44}, {'connected_gene': 'PIR47114', 'score': 0.25}]
chr11 GH11I093907 93907975 93909504 0.58 [{'connected_gene': 'PANX1', 'score': 4.41}, {'connected_gene': 'PIR53523', 'score': 0.39}, {'connected_gene': 'GC11M093876', 'score': 0.29}]
chr11 GH11I094567 94567319 94567378 1.14 [{'connected_gene': 'PIWIL4', 'score': 550.34}, {'connected_gene': 'PANX1', 'score': 7.1}, {'connected_gene': 'GC11M094556', 'score': 0.77}, {'connected_gene': 'LOC105369436', 'score': 0.2}, {'connected_gene': 'LOC105369438', 'score': 0.09}]
chr11 GH11I094177 94177642 94179387 0.2 [{'connected_gene': 'GPR83', 'score': 18.21}, {'connected_gene': 'PANX1', 'score': 11.21}, {'connected_gene': 'ANKRD49', 'score': 10.23}, {'connected_gene': 'MRE11', 'score': 10.23}, {'connected_gene': 'ENSG00000255893', 'score': 9.72}, {'connected_gene': 'LOC105369435', 'score': 7.37}, {'connected_gene': 'GC11P094183', 'score': 0.77}, {'connected_gene': 'PIR47114', 'score': 0.25}]
chr11 GH11I094601 94601942 94604147 1.49 [{'connected_gene': 'LOC105369438', 'score': 10.83}, {'connected_gene': 'PIWIL4', 'score': 10.69}, {'connected_gene': 'FUT4', 'score': 9.82}, {'connected_gene': 'ENSG00000255893', 'score': 9.66}, {'connected_gene': 'MRE11', 'score': 7.65}, {'connected_gene': 'PANX1', 'score': 1.72}, {'connected_gene': 'ANKRD49', 'score': 1.26}, {'connected_gene': 'LOC105369436', 'score': 0.29}, {'connected_gene': 'GC11M094556', 'score': 0.28}]
chr11 GH11I094199 94199536 94201754 0.86 [{'connected_gene': 'LOC105369435', 'score': 555.77}, {'connected_gene': 'GC11P094202', 'score': 550.77}, {'connected_gene': 'GPR83', 'score': 22.29}, {'connected_gene': 'PANX1', 'score': 7.35}, {'connected_gene': 'GC11P094183', 'score': 0.37}]
chr11 GH11I094184 94184975 94187038 0.43 [{'connected_gene': 'LOC105369435', 'score': 11.22}, {'connected_gene': 'GPR83', 'score': 9.23}, {'connected_gene': 'GC11P094183', 'score': 0.77}, {'connected_gene': 'GC11M094189', 'score': 0.77}, {'connected_gene': 'PANX1', 'score': 0.22}]
chr11 GH11I094027 94027495 94029852 0.51 [{'connected_gene': 'GC11M094026', 'score': 550.77}, {'connected_gene': 'HEPHL1', 'score': 21.53}, {'connected_gene': 'PANX1', 'score': 6.24}, {'connected_gene': 'GC11P094003', 'score': 0.31}, {'connected_gene': 'PHBP16', 'score': 0.31}]
chr11 GH11I094146 94146401 94146600 0.2 [{'connected_gene': 'PIR47114', 'score': 0.37}, {'connected_gene': 'PANX1', 'score': 0.37}, {'connected_gene': 'GC11P094183', 'score': 0.28}]
chr11 GH11I094143 94143055 94143107 0.58 [{'connected_gene': 'PIR47114', 'score': 0.39}, {'connected_gene': 'PANX1', 'score': 0.39}, {'connected_gene': 'GC11P094183', 'score': 0.26}]
chr11 GH11I094139 94139555 94139704 0.51 [{'connected_gene': 'PIR47114', 'score': 0.39}, {'connected_gene': 'PANX1', 'score': 0.39}, {'connected_gene': 'GC11P094183', 'score': 0.26}]
chr11 GH11I093923 93921835 93921964 0.65 [{'connected_gene': 'PIR53523', 'score': 550.77}, {'connected_gene': 'PANX1', 'score': 4.56}, {'connected_gene': 'GC11M093931', 'score': 0.25}]
chr11 GH11I094183 94183801 94184426 0.89 [{'connected_gene': 'GC11P094183', 'score': 550.77}, {'connected_gene': 'GPR83', 'score': 8.29}, {'connected_gene': 'PANX1', 'score': 7.17}, {'connected_gene': 'GC11M094189', 'score': 0.77}]
chr11 GH11I094182 94182035 94182144 0.56 [{'connected_gene': 'GC11P094183', 'score': 550.77}, {'connected_gene': 'LOC105369435', 'score': 9.78}, {'connected_gene': 'PIR47114', 'score': 0.23}, {'connected_gene': 'PANX1', 'score': 0.23}]