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
ENST00000373256 [[39016573, 39016694], [39024172, 39024269], [39025247, 39025355], [39033486, 39033605], [39033972, 39034079], [39040637, 39040791], [39041385, 39041545], [39046097, 39046158], [39046732, 39046802], [39046887, 39046976], [39047339, 39047478], [39048473, 39048515], [39053681, 39055519]] [[39016616, 39016694], [39024172, 39024269], [39025247, 39025355], [39033486, 39033605], [39033972, 39034079], [39040637, 39040791], [39041385, 39041545], [39046097, 39046158], [39046732, 39046802], [39046887, 39046976], [39047339, 39047478], [39048473, 39048515], [39053681, 39053849]]
NR_136562 [[39016556, 39016694], [39024172, 39024269], [39025247, 39025355], [39033486, 39033605], [39033972, 39034079], [39040637, 39040791], [39041385, 39041545], [39046097, 39046158], [39046732, 39046802], [39046887, 39046976], [39047339, 39047478], [39048473, 39048515], [39053681, 39053905], [39055119, 39059079]] None
NR_136563 [[39016556, 39016694], [39024172, 39024269], [39025247, 39025355], [39033486, 39033605], [39033972, 39034079], [39040637, 39040791], [39041385, 39041545], [39046097, 39046158], [39046732, 39046802], [39046887, 39046976], [39047339, 39047478], [39048473, 39048515], [39053681, 39053905], [39054063, 39059079]] None
NM_002062 [[39016556, 39016694], [39024172, 39024269], [39025247, 39025355], [39033486, 39033605], [39033972, 39034079], [39040637, 39040791], [39041385, 39041545], [39046097, 39046158], [39046732, 39046802], [39046887, 39046976], [39047339, 39047478], [39048473, 39048515], [39053681, 39059079]] [[39016616, 39016694], [39024172, 39024269], [39025247, 39025355], [39033486, 39033605], [39033972, 39034079], [39040637, 39040791], [39041385, 39041545], [39046097, 39046158], [39046732, 39046802], [39046887, 39046976], [39047339, 39047478], [39048473, 39048515], [39053681, 39053849]]
Promoter
Chrom Start End Description
chr6 39016551 39016566 CAGE_peak_1_at_GLP1R_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I039272 39272865 39273824 0.31 [{'connected_gene': 'KCNK17', 'score': 11.9}, {'connected_gene': 'KCNK5', 'score': 11.58}, {'connected_gene': 'KCNK16', 'score': 10.99}, {'connected_gene': 'GLP1R', 'score': 10.6}, {'connected_gene': 'SAYSD1', 'score': 10.35}, {'connected_gene': 'PIR44224', 'score': 0.29}, {'connected_gene': 'GC06M039593', 'score': 0.12}]
chr6 GH06I039273 39272203 39272752 0.31 [{'connected_gene': 'KCNK17', 'score': 16.21}, {'connected_gene': 'KCNK5', 'score': 11.42}, {'connected_gene': 'GLP1R', 'score': 10.6}, {'connected_gene': 'KCNK16', 'score': 10.08}, {'connected_gene': 'SAYSD1', 'score': 9.9}, {'connected_gene': 'PIR44224', 'score': 0.28}, {'connected_gene': 'GC06M039593', 'score': 0.12}]
chr6 GH06I039266 39266945 39267094 0.57 [{'connected_gene': 'KCNK17', 'score': 11.88}, {'connected_gene': 'KCNK5', 'score': 11.43}, {'connected_gene': 'GLP1R', 'score': 10.61}, {'connected_gene': 'KCNK16', 'score': 10.07}, {'connected_gene': 'SAYSD1', 'score': 9.9}, {'connected_gene': 'PIR44224', 'score': 0.26}, {'connected_gene': 'GC06M039593', 'score': 0.12}]
chr6 GH06I039269 39269655 39271677 0.69 [{'connected_gene': 'KCNK17', 'score': 16.46}, {'connected_gene': 'KCNK5', 'score': 11.42}, {'connected_gene': 'GLP1R', 'score': 10.6}, {'connected_gene': 'KCNK16', 'score': 10.08}, {'connected_gene': 'SAYSD1', 'score': 9.9}, {'connected_gene': 'PIR44224', 'score': 0.28}, {'connected_gene': 'GC06M039593', 'score': 0.12}]
chr6 GH06I039267 39267838 39269028 0.43 [{'connected_gene': 'KCNK17', 'score': 11.88}, {'connected_gene': 'KCNK5', 'score': 11.43}, {'connected_gene': 'GLP1R', 'score': 10.61}, {'connected_gene': 'KCNK16', 'score': 10.08}, {'connected_gene': 'SAYSD1', 'score': 9.9}, {'connected_gene': 'PIR44224', 'score': 0.28}, {'connected_gene': 'GC06M039593', 'score': 0.12}]
chr6 GH06I039312 39312908 39313315 0.59 [{'connected_gene': 'KCNK17', 'score': 579.7}, {'connected_gene': 'LOC105375047', 'score': 550.77}, {'connected_gene': 'KCNK16', 'score': 41.6}, {'connected_gene': 'GLP1R', 'score': 2.34}, {'connected_gene': 'SAYSD1', 'score': 1.81}, {'connected_gene': 'GC06M039592', 'score': 0.77}, {'connected_gene': 'GC06M039593', 'score': 0.16}]
chr6 GH06I039239 39239455 39241109 0.2 [{'connected_gene': 'KCNK5', 'score': 11.16}, {'connected_gene': 'KCNK17', 'score': 11.13}, {'connected_gene': 'GLP1R', 'score': 9.52}, {'connected_gene': 'PIR44224', 'score': 0.2}, {'connected_gene': 'GC06M039593', 'score': 0.1}]
chr6 GH06I039049 39048809 39053694 0.6 [{'connected_gene': 'KCNK5', 'score': 9.25}, {'connected_gene': 'GLP1R', 'score': 5.47}, {'connected_gene': 'DNAH8', 'score': 5.03}, {'connected_gene': 'LOC105375046', 'score': 0.31}]
chr6 GH06I039053 39053713 39055407 0.46 [{'connected_gene': 'KCNK5', 'score': 9.25}, {'connected_gene': 'GLP1R', 'score': 0.44}, {'connected_gene': 'LOC105375046', 'score': 0.34}]
chr6 GH06I039320 39320154 39320510 0.59 [{'connected_gene': 'KCNK16', 'score': 61.58}, {'connected_gene': 'KCNK17', 'score': 29.62}, {'connected_gene': 'GLP1R', 'score': 2.15}, {'connected_gene': 'SAYSD1', 'score': 1.8}, {'connected_gene': 'LOC105375047', 'score': 0.44}, {'connected_gene': 'GC06M039593', 'score': 0.17}]
chr6 GH06I039067 39067253 39069193 0.31 [{'connected_gene': 'SAYSD1', 'score': 16.83}, {'connected_gene': 'KCNK17', 'score': 10.82}, {'connected_gene': 'KCNK16', 'score': 10.23}, {'connected_gene': 'KCNK5', 'score': 9.91}, {'connected_gene': 'GLP1R', 'score': 5.3}, {'connected_gene': 'LOC105375046', 'score': 0.39}]
chr6 GH06I039098 39098701 39101009 0.38 [{'connected_gene': 'SAYSD1', 'score': 15.62}, {'connected_gene': 'GLP1R', 'score': 11.05}, {'connected_gene': 'KCNK17', 'score': 10.82}, {'connected_gene': 'KCNK5', 'score': 10.45}, {'connected_gene': 'PIR34726', 'score': 0.77}, {'connected_gene': 'GC06M039564', 'score': 0.77}, {'connected_gene': 'LOC105375046', 'score': 0.34}]
chr6 GH06I039088 39088425 39088594 0.83 [{'connected_gene': 'SAYSD1', 'score': 11.64}, {'connected_gene': 'GLP1R', 'score': 11.1}, {'connected_gene': 'LOC105375046', 'score': 0.44}, {'connected_gene': 'PIR34726', 'score': 0.39}, {'connected_gene': 'GC06M039564', 'score': 0.39}]
chr6 GH06I039166 39166525 39166694 0.85 [{'connected_gene': 'GLP1R', 'score': 4.91}, {'connected_gene': 'PIR34969', 'score': 0.34}, {'connected_gene': 'KCNK5', 'score': 0.21}, {'connected_gene': 'GC06M039593', 'score': 0.07}]
chr6 GH06I039071 39071335 39078279 0.49 [{'connected_gene': 'GLP1R', 'score': 18.26}, {'connected_gene': 'SAYSD1', 'score': 18.04}, {'connected_gene': 'KCNK5', 'score': 10.02}, {'connected_gene': 'LOC105375046', 'score': 0.77}]
chr6 GH06I039084 39084267 39085515 0.43 [{'connected_gene': 'GLP1R', 'score': 22.27}, {'connected_gene': 'SAYSD1', 'score': 21.68}, {'connected_gene': 'GLO1', 'score': 4.45}, {'connected_gene': 'LOC105375046', 'score': 0.44}, {'connected_gene': 'PIR34726', 'score': 0.37}, {'connected_gene': 'GC06M039564', 'score': 0.37}]
chr6 GH06I039082 39082320 39084252 0.52 [{'connected_gene': 'GLP1R', 'score': 22.9}, {'connected_gene': 'SAYSD1', 'score': 22.52}, {'connected_gene': 'DAAM2', 'score': 4.8}, {'connected_gene': 'LOC105375046', 'score': 0.77}, {'connected_gene': 'PIR34726', 'score': 0.34}, {'connected_gene': 'GC06M039564', 'score': 0.34}]
chr6 GH06I039093 39093408 39093418 0.8 [{'connected_gene': 'GLP1R', 'score': 12.5}, {'connected_gene': 'SAYSD1', 'score': 12.16}, {'connected_gene': 'PIR34726', 'score': 0.39}, {'connected_gene': 'GC06M039564', 'score': 0.39}, {'connected_gene': 'LOC105375046', 'score': 0.39}]
chr6 GH06I039055 39055780 39057050 0.43 [{'connected_gene': 'GLP1R', 'score': 5.84}, {'connected_gene': 'LOC105375046', 'score': 0.34}]
chr6 GH06I039035 39035639 39036148 0.38 [{'connected_gene': 'GLP1R', 'score': 4.73}, {'connected_gene': 'LOC100128655', 'score': 0.77}, {'connected_gene': 'LOC100131047', 'score': 0.18}]
chr6 GH06I039048 39048732 39048791 0.93 [{'connected_gene': 'GLP1R', 'score': 550.77}, {'connected_gene': 'LOC100128655', 'score': 0.44}]
chr6 GH06I039059 39059267 39063924 0.87 [{'connected_gene': 'ANKRD18EP', 'score': 11.72}, {'connected_gene': 'SAYSD1', 'score': 10.89}, {'connected_gene': 'KCNK17', 'score': 10.83}, {'connected_gene': 'GLP1R', 'score': 9.72}, {'connected_gene': 'LOC105375046', 'score': 0.37}]
chr6 GH06I039040 39040330 39041566 0.46 [{'connected_gene': 'LOC100128655', 'score': 550.77}, {'connected_gene': 'GLP1R', 'score': 0.44}]
chr6 GH06I039114 39114032 39116117 2.29 [{'connected_gene': 'GC06M039568', 'score': 550.77}, {'connected_gene': 'PIR35108', 'score': 550.77}, {'connected_gene': 'PIR34348', 'score': 550.77}, {'connected_gene': 'GC06M039563', 'score': 550.77}, {'connected_gene': 'GC06M039567', 'score': 550.77}, {'connected_gene': 'GC06M039586', 'score': 550.77}, {'connected_gene': 'PIR44528', 'score': 550.77}, {'connected_gene': 'GC06M039570', 'score': 550.77}, {'connected_gene': 'SAYSD1', 'score': 550.77}, {'connected_gene': 'KCNK17', 'score': 10.9}, {'connected_gene': 'GLP1R', 'score': 10.04}, {'connected_gene': 'PIRC27', 'score': 0.37}, {'connected_gene': 'GC06M039593', 'score': 0.06}]
chr6 GH06I039101 39101565 39102681 1.07 [{'connected_gene': 'PIR34726', 'score': 550.77}, {'connected_gene': 'GC06M039564', 'score': 550.77}, {'connected_gene': 'SAYSD1', 'score': 13.21}, {'connected_gene': 'GLP1R', 'score': 10.94}, {'connected_gene': 'KCNK17', 'score': 10.82}, {'connected_gene': 'KCNK5', 'score': 10.45}, {'connected_gene': 'LOC105375046', 'score': 0.34}, {'connected_gene': 'GC06M039593', 'score': 0.06}]