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
ENST00000400602 [[21351468, 21358058], [21361103, 21361196], [21361619, 21361737], [21362624, 21362755], [21364600, 21364719], [21370214, 21370395], [21370902, 21371196], [21373303, 21373478], [21374294, 21374464], [21374969, 21375129], [21381595, 21381773], [21382574, 21382720], [21383221, 21383364], [21383929, 21384106], [21395842, 21396017], [21396270, 21396428], [21401205, 21401321], [21417036, 21417187], [21417908, 21418025], [21429765, 21429904], [21436855, 21436997], [21442734, 21442840], [21476808, 21476913]] [[21357860, 21358058], [21361103, 21361196], [21361619, 21361737], [21362624, 21362755], [21364600, 21364719], [21370214, 21370395], [21370902, 21371196], [21373303, 21373478], [21374294, 21374464], [21374969, 21375129], [21381595, 21381773], [21382574, 21382720], [21383221, 21383364], [21383929, 21384106], [21395842, 21396017], [21396270, 21396428], [21401205, 21401321], [21417036, 21417187], [21417908, 21418025], [21429765, 21429904], [21436855, 21436997], [21442734, 21442840], [21476808, 21476877]]
ENST00000255305 [[21353013, 21358058], [21361103, 21361196], [21361619, 21361737], [21362624, 21362755], [21364600, 21364719], [21370214, 21370395], [21370902, 21371196], [21373303, 21373478], [21374294, 21374464], [21374969, 21375129], [21381595, 21381773], [21382574, 21382720], [21383221, 21383364], [21383929, 21384106], [21395842, 21396017], [21396270, 21396428], [21401205, 21401318], [21417033, 21417187], [21417908, 21418025], [21429765, 21429904], [21436855, 21436997], [21442734, 21442840], [21476808, 21476949]] [[21357860, 21358058], [21361103, 21361196], [21361619, 21361737], [21362624, 21362755], [21364600, 21364719], [21370214, 21370395], [21370902, 21371196], [21373303, 21373478], [21374294, 21374464], [21374969, 21375129], [21381595, 21381773], [21382574, 21382720], [21383221, 21383364], [21383929, 21384106], [21395842, 21396017], [21396270, 21396428], [21401205, 21401318], [21417033, 21417187], [21417908, 21418025], [21429765, 21429904], [21436855, 21436997], [21442734, 21442840], [21476808, 21476877]]
ENST00000490513 [[21429772, 21429904], [21436855, 21436997], [21437107, 21437262], [21442734, 21442840], [21476808, 21477187]] None
ENST00000465018 [[21442551, 21442840], [21476808, 21476886]] None
NM_022459 [[21351467, 21358058], [21361103, 21361196], [21361619, 21361737], [21362624, 21362755], [21364600, 21364719], [21370214, 21370395], [21370902, 21371196], [21373303, 21373478], [21374294, 21374464], [21374969, 21375129], [21381595, 21381773], [21382574, 21382720], [21383221, 21383364], [21383929, 21384106], [21395842, 21396017], [21396270, 21396428], [21401205, 21401318], [21417033, 21417187], [21417908, 21418025], [21429765, 21429904], [21436855, 21436997], [21442734, 21442840], [21476808, 21476913]] [[21357860, 21358058], [21361103, 21361196], [21361619, 21361737], [21362624, 21362755], [21364600, 21364719], [21370214, 21370395], [21370902, 21371196], [21373303, 21373478], [21374294, 21374464], [21374969, 21375129], [21381595, 21381773], [21382574, 21382720], [21383221, 21383364], [21383929, 21384106], [21395842, 21396017], [21396270, 21396428], [21401205, 21401318], [21417033, 21417187], [21417908, 21418025], [21429765, 21429904], [21436855, 21436997], [21442734, 21442840], [21476808, 21476877]]
Promoter
Chrom Start End Description
chr13 21395866 21395879 CAGE_peak_6_at_XPO4_5end
chr13 21395886 21395893 CAGE_peak_7_at_XPO4_5end
chr13 21476875 21476899 CAGE_peak_1_at_XPO4_5end
chr13 21476900 21476918 CAGE_peak_2_at_XPO4_5end
chr13 21477124 21477144 CAGE_peak_3_at_XPO4_5end
chr13 21477148 21477185 CAGE_peak_4_at_XPO4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I020544 20544722 20544871 0.43 [{'connected_gene': 'IFT88', 'score': 12.8}, {'connected_gene': 'XPO4', 'score': 10.57}, {'connected_gene': 'CRYL1', 'score': 0.37}]
chr13 GH13I020538 20538800 20539001 0.54 [{'connected_gene': 'IFT88', 'score': 12.77}, {'connected_gene': 'XPO4', 'score': 10.57}, {'connected_gene': 'CRYL1', 'score': 0.39}]
chr13 GH13I020545 20544401 20544600 0.38 [{'connected_gene': 'IFT88', 'score': 12.8}, {'connected_gene': 'XPO4', 'score': 10.57}, {'connected_gene': 'CRYL1', 'score': 0.37}]
chr13 GH13I020708 20708427 20710137 0.66 [{'connected_gene': 'IFT88', 'score': 29.57}, {'connected_gene': 'XPO4', 'score': 11.59}, {'connected_gene': 'EEF1AKMT1', 'score': 11.46}, {'connected_gene': 'SLC35E1P1', 'score': 11.17}, {'connected_gene': 'CRYL1', 'score': 10.83}, {'connected_gene': 'ENSG00000279135', 'score': 0.77}, {'connected_gene': 'GC13M020702', 'score': 0.44}, {'connected_gene': 'IL17D', 'score': 0.44}, {'connected_gene': 'ENSG00000278291', 'score': 0.44}]
chr13 GH13I020882 20882283 20883311 0.8 [{'connected_gene': 'IFT88', 'score': 13.29}, {'connected_gene': 'GC13P020892', 'score': 0.44}, {'connected_gene': 'XPO4', 'score': 0.34}, {'connected_gene': 'EEF1AKMT1', 'score': 0.14}]
chr13 GH13I020565 20565828 20568755 2.02 [{'connected_gene': 'IFT88', 'score': 571.7}, {'connected_gene': 'PIR57097', 'score': 550.77}, {'connected_gene': 'LOC105370103', 'score': 550.77}, {'connected_gene': 'SLC35E1P1', 'score': 19.96}, {'connected_gene': 'ZMYM2', 'score': 14.51}, {'connected_gene': 'XPO4', 'score': 13.63}, {'connected_gene': 'ZMYM5', 'score': 12.06}, {'connected_gene': 'CRYL1', 'score': 11.33}, {'connected_gene': 'IL17D', 'score': 4.88}]
chr13 GH13I019957 19957043 19962267 2.04 [{'connected_gene': 'ZMYM2', 'score': 573.18}, {'connected_gene': 'ZMYM5', 'score': 25.44}, {'connected_gene': 'XPO4', 'score': 16.32}, {'connected_gene': 'GC13P019979', 'score': 0.37}]
chr13 GH13I021343 21343523 21345912 0.72 [{'connected_gene': 'MIPEPP3', 'score': 7.71}, {'connected_gene': 'XPO4', 'score': 4.52}, {'connected_gene': 'LINC00539', 'score': 0.77}, {'connected_gene': 'GRK6P1', 'score': 0.31}]
chr13 GH13I020901 20901221 20903601 1.96 [{'connected_gene': 'XPO4', 'score': 550.77}, {'connected_gene': 'IFT88', 'score': 13.38}, {'connected_gene': 'GC13P020892', 'score': 0.39}]
chr13 GH13I020787 20787793 20789961 0.46 [{'connected_gene': 'XPO4', 'score': 10.84}, {'connected_gene': 'CRYL1', 'score': 5.61}, {'connected_gene': 'IL17D', 'score': 4.8}, {'connected_gene': 'EEF1AKMT1', 'score': 0.39}, {'connected_gene': 'GC13P020892', 'score': 0.15}]
chr13 GH13I020506 20506122 20506271 0.67 [{'connected_gene': 'XPO4', 'score': 10.59}, {'connected_gene': 'CRYL1', 'score': 0.37}, {'connected_gene': 'MIR4499', 'score': 0.19}]
chr13 GH13I020843 20843302 20843471 0.2 [{'connected_gene': 'XPO4', 'score': 12.11}, {'connected_gene': 'GC13P020892', 'score': 0.25}, {'connected_gene': 'EEF1AKMT1', 'score': 0.2}]
chr13 GH13I020945 20945801 20946600 0.38 [{'connected_gene': 'XPO4', 'score': 11.86}, {'connected_gene': 'LATS2-AS1', 'score': 11.52}, {'connected_gene': 'HNRNPA1P30', 'score': 7.98}, {'connected_gene': 'LINC00367', 'score': 0.77}, {'connected_gene': 'CNOT4P1', 'score': 0.34}]
chr13 GH13I020942 20942963 20944251 1.3 [{'connected_gene': 'XPO4', 'score': 11.86}, {'connected_gene': 'LATS2-AS1', 'score': 11.5}, {'connected_gene': 'LATS2', 'score': 1.35}, {'connected_gene': 'HNRNPA1P30', 'score': 0.44}, {'connected_gene': 'LINC00367', 'score': 0.44}, {'connected_gene': 'CNOT4P1', 'score': 0.34}]
chr13 GH13I020130 20130281 20130659 0.58 [{'connected_gene': 'MPHOSPH8', 'score': 13.41}, {'connected_gene': 'ZMYM5', 'score': 12.94}, {'connected_gene': 'XPO4', 'score': 9.87}, {'connected_gene': 'EEF1AKMT1', 'score': 9.73}, {'connected_gene': 'LOC105370101', 'score': 0.39}, {'connected_gene': 'GJA3', 'score': 0.29}]
chr13 GH13I020716 20716673 20718741 0.43 [{'connected_gene': 'CRYL1', 'score': 15.33}, {'connected_gene': 'IFT88', 'score': 13.38}, {'connected_gene': 'EEF1AKMT1', 'score': 11.64}, {'connected_gene': 'XPO4', 'score': 11.59}, {'connected_gene': 'ENSG00000279135', 'score': 0.44}, {'connected_gene': 'GC13M020722', 'score': 0.44}, {'connected_gene': 'IL17D', 'score': 0.37}]
chr13 GH13I020159 20159902 20161855 2.12 [{'connected_gene': 'GJA3', 'score': 555.42}, {'connected_gene': 'ZMYM2', 'score': 16.16}, {'connected_gene': 'ZMYM5', 'score': 13.76}, {'connected_gene': 'XPO4', 'score': 12.34}, {'connected_gene': 'PSPC1', 'score': 2.1}, {'connected_gene': 'LOC105370101', 'score': 0.26}]
chr13 GH13I020772 20772299 20774571 1.99 [{'connected_gene': 'EEF1AKMT1', 'score': 556.84}, {'connected_gene': 'ZMYM5', 'score': 14.61}, {'connected_gene': 'SLC35E1P1', 'score': 14.31}, {'connected_gene': 'RNU2-7P', 'score': 11.96}, {'connected_gene': 'RPS7P10', 'score': 10.83}, {'connected_gene': 'IFT88', 'score': 10.69}, {'connected_gene': 'ZMYM2', 'score': 10.18}, {'connected_gene': 'CRYL1', 'score': 5.54}, {'connected_gene': 'XPO4', 'score': 5.17}, {'connected_gene': 'ENSG00000275485', 'score': 0.77}]
chr13 GH13I020812 20812984 20815943 1.29 [{'connected_gene': 'EEF1AKMT1', 'score': 18.43}, {'connected_gene': 'IFT88', 'score': 12.57}, {'connected_gene': 'GC13P020892', 'score': 0.18}, {'connected_gene': 'XPO4', 'score': 0.17}]
chr13 GH13I020730 20730486 20730839 0.22 [{'connected_gene': 'EEF1AKMT1', 'score': 12.11}, {'connected_gene': 'IL17D', 'score': 10.45}, {'connected_gene': 'CRYL1', 'score': 10.39}, {'connected_gene': 'XPO4', 'score': 5.88}, {'connected_gene': 'IFT88', 'score': 4.92}, {'connected_gene': 'GC13M020722', 'score': 0.44}, {'connected_gene': 'RANP8', 'score': 0.37}]
chr13 GH13I020822 20822940 20826336 0.7 [{'connected_gene': 'EEF1AKMT1', 'score': 18.47}, {'connected_gene': 'CRYL1', 'score': 15.11}, {'connected_gene': 'SLC35E1P1', 'score': 13.32}, {'connected_gene': 'IFT88', 'score': 12.19}, {'connected_gene': 'IL17D', 'score': 10.22}, {'connected_gene': 'GC13P020892', 'score': 0.2}, {'connected_gene': 'XPO4', 'score': 0.18}]
chr13 GH13I020800 20800862 20802548 0.75 [{'connected_gene': 'EEF1AKMT1', 'score': 12.08}, {'connected_gene': 'CRYL1', 'score': 10.0}, {'connected_gene': 'XPO4', 'score': 5.64}, {'connected_gene': 'IFT88', 'score': 4.61}, {'connected_gene': 'GC13P020892', 'score': 0.16}]
chr13 GH13I020797 20797193 20798671 0.66 [{'connected_gene': 'EEF1AKMT1', 'score': 16.91}, {'connected_gene': 'CRYL1', 'score': 15.62}, {'connected_gene': 'XPO4', 'score': 11.85}, {'connected_gene': 'GC13P020892', 'score': 0.16}]
chr13 GH13I020828 20828401 20829000 1.04 [{'connected_gene': 'EEF1AKMT1', 'score': 11.06}, {'connected_gene': 'CRYL1', 'score': 10.47}, {'connected_gene': 'GC13P020892', 'score': 0.21}, {'connected_gene': 'XPO4', 'score': 0.19}]
chr13 GH13I020823 20822522 20822671 0.2 [{'connected_gene': 'EEF1AKMT1', 'score': 11.47}, {'connected_gene': 'CRYL1', 'score': 9.34}, {'connected_gene': 'GC13P020892', 'score': 0.2}, {'connected_gene': 'XPO4', 'score': 0.18}]
chr13 GH13I020826 20826816 20827507 0.31 [{'connected_gene': 'EEF1AKMT1', 'score': 11.06}, {'connected_gene': 'CRYL1', 'score': 10.47}, {'connected_gene': 'IL17D', 'score': 10.22}, {'connected_gene': 'GC13P020892', 'score': 0.2}, {'connected_gene': 'XPO4', 'score': 0.18}]
chr13 GH13I020118 20118001 20121841 1.49 [{'connected_gene': 'LOC105370101', 'score': 550.77}, {'connected_gene': 'ZMYM5', 'score': 15.52}, {'connected_gene': 'ZMYM2', 'score': 15.23}, {'connected_gene': 'XPO4', 'score': 13.53}, {'connected_gene': 'MPHOSPH8', 'score': 11.1}, {'connected_gene': 'RNU2-7P', 'score': 9.68}, {'connected_gene': 'GJA3', 'score': 8.34}, {'connected_gene': 'PSPC1', 'score': 6.16}, {'connected_gene': 'CRYL1', 'score': 3.06}, {'connected_gene': 'LINC01072', 'score': 0.37}]
chr13 GH13I020924 20924922 20925071 0.62 [{'connected_gene': 'CNOT4P1', 'score': 550.77}, {'connected_gene': 'XPO4', 'score': 12.1}, {'connected_gene': 'LINC00367', 'score': 0.34}]
chr13 GH13I021241 21241828 21244103 0.52 [{'connected_gene': 'RPS7P10', 'score': 11.4}, {'connected_gene': 'XPO4', 'score': 9.89}, {'connected_gene': 'LINC01046', 'score': 0.44}, {'connected_gene': 'ESRRAP2', 'score': 0.37}]
chr13 GH13I020712 20712551 20716039 1.03 [{'connected_gene': 'ENSG00000279135', 'score': 550.77}, {'connected_gene': 'SLC35E1P1', 'score': 12.5}, {'connected_gene': 'IFT88', 'score': 11.88}, {'connected_gene': 'XPO4', 'score': 11.59}, {'connected_gene': 'EEF1AKMT1', 'score': 11.47}, {'connected_gene': 'CRYL1', 'score': 9.99}, {'connected_gene': 'GC13M020722', 'score': 0.44}, {'connected_gene': 'IL17D', 'score': 0.39}]