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
ENST00000335647 [[149916008, 149916370], [149918198, 149918325], [149918642, 149918777], [149919359, 149919486], [149922729, 149922888], [149924403, 149924509], [149925796, 149925918], [149944238, 149944419], [149953894, 149954052], [149959521, 149959728]] [[149916171, 149916370], [149918198, 149918325], [149918642, 149918777], [149919359, 149919486], [149922729, 149922888], [149924403, 149924509], [149925796, 149925918], [149944238, 149944419], [149953894, 149954052], [149959521, 149959683]]
ENST00000335643 [[149916008, 149916370], [149918642, 149918777], [149919359, 149919486], [149922729, 149922888], [149944238, 149944419], [149953894, 149954052], [149959521, 149959696], [149969604, 149969871]] [[149916356, 149916370], [149918642, 149918777], [149919359, 149919486], [149922729, 149922888], [149944238, 149944419], [149953894, 149954052], [149959521, 149959683]]
ENST00000367411 [[149916012, 149916370], [149918198, 149918325], [149918642, 149918777], [149919359, 149919486], [149922729, 149922888], [149924403, 149924509], [149925796, 149925918], [149944238, 149944419], [149953894, 149954052], [149959521, 149959696], [149969604, 149969850]] [[149916171, 149916370], [149918198, 149918325], [149918642, 149918777], [149919359, 149919486], [149922729, 149922888], [149924403, 149924509], [149925796, 149925918], [149944238, 149944419], [149953894, 149954052], [149959521, 149959683]]
ENST00000470620 [[149919403, 149919486], [149922729, 149922888], [149924403, 149924509], [149944238, 149944419], [149969604, 149969829]] None
ENST00000444282 [[149922775, 149922888], [149924403, 149924509], [149925796, 149925918], [149944238, 149944419], [149953894, 149954052], [149959521, 149959696], [149969604, 149969887]] [[149922775, 149922888], [149924403, 149924509], [149925796, 149925918], [149944238, 149944419], [149953894, 149954052], [149959521, 149959683]]
ENST00000420200 [[149924499, 149924509], [149925796, 149925918], [149944238, 149944419], [149953894, 149954052], [149959521, 149959696], [149970038, 149970108]] [[149924499, 149924509], [149925796, 149925918], [149944238, 149944419], [149953894, 149954052], [149959521, 149959683]]
ENST00000494504 [[149918265, 149918325], [149918642, 149918777], [149919359, 149919486], [149922729, 149922935], [149924403, 149924509], [149925796, 149925918], [149944238, 149944247]] None
ENST00000481905 [[149919188, 149919486], [149922729, 149922888], [149924403, 149924509]] None
NM_007044 [[149916008, 149916370], [149918198, 149918325], [149918642, 149918777], [149919359, 149919486], [149922729, 149922888], [149924403, 149924509], [149925796, 149925918], [149944238, 149944419], [149953894, 149954052], [149959521, 149959696], [149969604, 149969940]] [[149916171, 149916370], [149918198, 149918325], [149918642, 149918777], [149919359, 149919486], [149922729, 149922888], [149924403, 149924509], [149925796, 149925918], [149944238, 149944419], [149953894, 149954052], [149959521, 149959683]]
NM_001204076 [[149916008, 149916370], [149918642, 149918777], [149919359, 149919486], [149922729, 149922888], [149944238, 149944419], [149953894, 149954052], [149959521, 149959696], [149969604, 149969940]] [[149916356, 149916370], [149918642, 149918777], [149919359, 149919486], [149922729, 149922888], [149944238, 149944419], [149953894, 149954052], [149959521, 149959683]]
Promoter
Chrom Start End Description
chr6 149969760 149969776 CAGE_peak_4_at_KATNA1_5end
chr6 149969785 149969827 CAGE_peak_3_at_KATNA1_5end
chr6 149969829 149969863 CAGE_peak_1_at_KATNA1_5end
chr6 149969872 149969917 CAGE_peak_2_at_KATNA1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I149470 149470711 149475449 1.32 [{'connected_gene': 'LATS1', 'score': 31.04}, {'connected_gene': 'PPIL4', 'score': 24.07}, {'connected_gene': 'NUP43', 'score': 15.3}, {'connected_gene': 'RPS18P9', 'score': 13.6}, {'connected_gene': 'KATNA1', 'score': 10.67}, {'connected_gene': 'ENSG00000233330', 'score': 10.58}, {'connected_gene': 'ENSG00000231760', 'score': 7.38}, {'connected_gene': 'GINM1', 'score': 5.38}, {'connected_gene': 'RAET1G', 'score': 4.78}, {'connected_gene': 'ZC3H12D', 'score': 0.39}, {'connected_gene': 'SUMO4', 'score': 0.19}, {'connected_gene': 'GC06P149237', 'score': 0.07}]
chr6 GH06I149715 149715847 149719325 2.1 [{'connected_gene': 'LATS1', 'score': 564.96}, {'connected_gene': 'LOC645967', 'score': 550.77}, {'connected_gene': 'ENSG00000231760', 'score': 42.3}, {'connected_gene': 'NUP43', 'score': 12.75}, {'connected_gene': 'KATNA1', 'score': 11.87}, {'connected_gene': 'LOC105378050', 'score': 0.29}, {'connected_gene': 'GC06P149237', 'score': 0.04}]
chr6 GH06I149248 149248601 149251200 1.3 [{'connected_gene': 'LATS1', 'score': 44.42}, {'connected_gene': 'NUP43', 'score': 39.26}, {'connected_gene': 'PPIL4', 'score': 30.84}, {'connected_gene': 'KATNA1', 'score': 22.82}, {'connected_gene': 'ENSG00000216906', 'score': 15.7}, {'connected_gene': 'ENSG00000268592', 'score': 15.67}, {'connected_gene': 'ENSG00000233330', 'score': 12.43}, {'connected_gene': 'RPS18P9', 'score': 11.85}, {'connected_gene': 'ENSG00000228408', 'score': 11.84}, {'connected_gene': 'ENSG00000231760', 'score': 11.46}, {'connected_gene': 'GINM1', 'score': 10.76}, {'connected_gene': 'LRP11', 'score': 10.62}, {'connected_gene': 'TAB2', 'score': 10.04}, {'connected_gene': 'ENSG00000283608', 'score': 0.77}, {'connected_gene': 'TAB2-AS1', 'score': 0.44}, {'connected_gene': 'GC06P149237', 'score': 0.39}]
chr6 GH06I150167 150167485 150168722 0.95 [{'connected_gene': 'LATS1', 'score': 12.69}, {'connected_gene': 'KATNA1', 'score': 12.25}, {'connected_gene': 'NUP43', 'score': 12.04}, {'connected_gene': 'PPIL4', 'score': 9.81}, {'connected_gene': 'PPP1R14C', 'score': 5.14}, {'connected_gene': 'ENSG00000238594', 'score': 0.77}, {'connected_gene': 'LOC105378054', 'score': 0.15}, {'connected_gene': 'GC06M150158', 'score': 0.08}]
chr6 GH06I149543 149543619 149547505 2.32 [{'connected_gene': 'PPIL4', 'score': 563.57}, {'connected_gene': 'NUP43', 'score': 36.71}, {'connected_gene': 'LATS1', 'score': 28.05}, {'connected_gene': 'ENSG00000231760', 'score': 24.47}, {'connected_gene': 'KATNA1', 'score': 20.26}, {'connected_gene': 'GINM1', 'score': 11.77}, {'connected_gene': 'ENSG00000268592', 'score': 11.05}, {'connected_gene': 'RNU7-3P', 'score': 10.54}, {'connected_gene': 'ENSG00000216906', 'score': 10.06}, {'connected_gene': 'GC06P149517', 'score': 0.31}, {'connected_gene': 'GC06P149237', 'score': 0.06}]
chr6 GH06I150142 150142065 150146614 2.38 [{'connected_gene': 'PPP1R14C', 'score': 550.77}, {'connected_gene': 'NUP43', 'score': 15.57}, {'connected_gene': 'PPIL4', 'score': 13.33}, {'connected_gene': 'ENSG00000231760', 'score': 12.73}, {'connected_gene': 'KATNA1', 'score': 11.46}, {'connected_gene': 'LATS1', 'score': 11.35}, {'connected_gene': 'ENSG00000238594', 'score': 0.34}]
chr6 GH06I149962 149962670 149965727 2.35 [{'connected_gene': 'ULBP1', 'score': 578.81}, {'connected_gene': 'LATS1', 'score': 54.56}, {'connected_gene': 'NUP43', 'score': 38.37}, {'connected_gene': 'PPIL4', 'score': 21.15}, {'connected_gene': 'KATNA1', 'score': 18.59}, {'connected_gene': 'RAET1K', 'score': 16.65}, {'connected_gene': 'ENSG00000216906', 'score': 11.43}, {'connected_gene': 'ENSG00000233330', 'score': 10.53}, {'connected_gene': 'ULBP2', 'score': 8.78}, {'connected_gene': 'ENSG00000219298', 'score': 0.39}]
chr6 GH06I149941 149941400 149942614 1.9 [{'connected_gene': 'ULBP2', 'score': 562.61}, {'connected_gene': 'LATS1', 'score': 41.21}, {'connected_gene': 'PPIL4', 'score': 24.65}, {'connected_gene': 'KATNA1', 'score': 20.42}, {'connected_gene': 'NUP43', 'score': 15.32}, {'connected_gene': 'RPS18P9', 'score': 11.91}, {'connected_gene': 'ENSG00000233330', 'score': 9.98}, {'connected_gene': 'ENSG00000215094', 'score': 0.44}]
chr6 GH06I150004 150004291 150006012 1.52 [{'connected_gene': 'RAET1K', 'score': 550.77}, {'connected_gene': 'LATS1', 'score': 37.58}, {'connected_gene': 'PPIL4', 'score': 28.15}, {'connected_gene': 'ENSG00000233330', 'score': 21.52}, {'connected_gene': 'RPS18P9', 'score': 20.52}, {'connected_gene': 'ULBP1', 'score': 18.25}, {'connected_gene': 'NUP43', 'score': 14.56}, {'connected_gene': 'KATNA1', 'score': 11.56}, {'connected_gene': 'GINM1', 'score': 10.67}, {'connected_gene': 'ENSG00000231760', 'score': 9.73}, {'connected_gene': 'MTHFD1L', 'score': 4.82}, {'connected_gene': 'BTF3P10', 'score': 0.31}]
chr6 GH06I149400 149400220 149400279 0.68 [{'connected_gene': 'SUMO4', 'score': 550.77}, {'connected_gene': 'LATS1', 'score': 17.03}, {'connected_gene': 'NUP43', 'score': 15.51}, {'connected_gene': 'PPIL4', 'score': 10.91}, {'connected_gene': 'KATNA1', 'score': 9.7}, {'connected_gene': 'ZC3H12D', 'score': 0.18}, {'connected_gene': 'GC06P149237', 'score': 0.1}, {'connected_gene': 'TAB2', 'score': 0.09}]
chr6 GH06I150195 150195940 150197514 1.08 [{'connected_gene': 'NUP43', 'score': 15.57}, {'connected_gene': 'PPIL4', 'score': 13.34}, {'connected_gene': 'ENSG00000231760', 'score': 12.73}, {'connected_gene': 'ENSG00000238594', 'score': 11.94}, {'connected_gene': 'KATNA1', 'score': 11.45}, {'connected_gene': 'RNU4-7P', 'score': 11.4}, {'connected_gene': 'LATS1', 'score': 11.35}, {'connected_gene': 'RAET1E', 'score': 10.4}, {'connected_gene': 'PPP1R14C', 'score': 8.36}, {'connected_gene': 'LOC105378054', 'score': 0.19}, {'connected_gene': 'GC06M150158', 'score': 0.1}]
chr6 GH06I150559 150559976 150561033 0.87 [{'connected_gene': 'NUP43', 'score': 17.11}, {'connected_gene': 'HSPA8P15', 'score': 15.95}, {'connected_gene': 'LATS1', 'score': 13.95}, {'connected_gene': 'ZBTB2', 'score': 12.84}, {'connected_gene': 'KATNA1', 'score': 10.34}, {'connected_gene': 'ENSG00000231760', 'score': 10.16}, {'connected_gene': 'PLEKHG1', 'score': 0.28}, {'connected_gene': 'LOC100420304', 'score': 0.23}]
chr6 GH06I149508 149508555 149508896 0.49 [{'connected_gene': 'ZC3H12D', 'score': 17.36}, {'connected_gene': 'ENSG00000231760', 'score': 12.83}, {'connected_gene': 'PPIL4', 'score': 5.34}, {'connected_gene': 'LATS1', 'score': 3.89}, {'connected_gene': 'TAB2', 'score': 2.56}, {'connected_gene': 'KATNA1', 'score': 1.63}, {'connected_gene': 'SUMO4', 'score': 1.35}, {'connected_gene': 'RNU7-3P', 'score': 0.44}, {'connected_gene': 'LOC729496', 'score': 0.37}, {'connected_gene': 'GC06P149237', 'score': 0.06}]
chr6 GH06I149479 149479456 149486449 2.48 [{'connected_gene': 'ZC3H12D', 'score': 581.17}, {'connected_gene': 'GINM1', 'score': 10.74}, {'connected_gene': 'RPS18P9', 'score': 7.88}, {'connected_gene': 'ENSG00000231760', 'score': 6.98}, {'connected_gene': 'PPIL4', 'score': 5.3}, {'connected_gene': 'TAB2', 'score': 4.48}, {'connected_gene': 'LATS1', 'score': 4.27}, {'connected_gene': 'KATNA1', 'score': 1.92}, {'connected_gene': 'SUMO4', 'score': 1.68}, {'connected_gene': 'GC06P149237', 'score': 0.07}]
chr6 GH06I149127 149127332 149131551 1.58 [{'connected_gene': 'TAB2', 'score': 26.58}, {'connected_gene': 'KATNA1', 'score': 17.1}, {'connected_gene': 'LATS1', 'score': 12.91}, {'connected_gene': 'NUP43', 'score': 12.58}, {'connected_gene': 'ENSG00000231760', 'score': 11.31}, {'connected_gene': 'ENSG00000228408', 'score': 10.93}, {'connected_gene': 'TAB2-AS1', 'score': 10.72}, {'connected_gene': 'PPIL4', 'score': 10.66}, {'connected_gene': 'GINM1', 'score': 10.01}, {'connected_gene': 'ZC3H12D', 'score': 1.83}, {'connected_gene': 'PIR33930', 'score': 0.44}]
chr6 GH06I149894 149894809 149898422 1.67 [{'connected_gene': 'RAET1E', 'score': 567.21}, {'connected_gene': 'ENSG00000216906', 'score': 23.45}, {'connected_gene': 'LATS1', 'score': 17.2}, {'connected_gene': 'NUP43', 'score': 15.35}, {'connected_gene': 'PPIL4', 'score': 12.09}, {'connected_gene': 'KATNA1', 'score': 10.64}, {'connected_gene': 'LRP11', 'score': 6.68}, {'connected_gene': 'LOC105378051', 'score': 0.39}, {'connected_gene': 'ENSG00000268592', 'score': 0.29}, {'connected_gene': 'RAET1E-AS1', 'score': 0.29}]
chr6 GH06I149646 149646182 149649594 2.11 [{'connected_gene': 'KATNA1', 'score': 550.77}, {'connected_gene': 'ENSG00000231760', 'score': 35.49}, {'connected_gene': 'PPIL4', 'score': 22.67}, {'connected_gene': 'LATS1', 'score': 15.95}, {'connected_gene': 'RPS18P9', 'score': 13.71}, {'connected_gene': 'ENSG00000233330', 'score': 10.67}, {'connected_gene': 'ENSG00000207292', 'score': 0.37}, {'connected_gene': 'GC06P149237', 'score': 0.05}]
chr6 GH06I150266 150266226 150274512 1.69 [{'connected_gene': 'LOC105378054', 'score': 550.77}, {'connected_gene': 'LATS1', 'score': 58.29}, {'connected_gene': 'NUP43', 'score': 48.07}, {'connected_gene': 'PPIL4', 'score': 36.89}, {'connected_gene': 'ENSG00000231760', 'score': 22.3}, {'connected_gene': 'KATNA1', 'score': 20.14}, {'connected_gene': 'RNU4-7P', 'score': 11.41}, {'connected_gene': 'ENSG00000238594', 'score': 10.55}, {'connected_gene': 'ENSG00000233330', 'score': 10.51}, {'connected_gene': 'PPP1R14C', 'score': 9.08}, {'connected_gene': 'RAET1G', 'score': 2.61}, {'connected_gene': 'GC06M150327', 'score': 0.22}, {'connected_gene': 'GC06M150158', 'score': 0.16}]
chr6 GH06I149683 149683277 149684571 0.43 [{'connected_gene': 'LOC105378050', 'score': 550.77}, {'connected_gene': 'ENSG00000231760', 'score': 41.65}, {'connected_gene': 'ENSG00000202343', 'score': 10.94}, {'connected_gene': 'ENSG00000233330', 'score': 10.93}, {'connected_gene': 'RPS18P9', 'score': 10.93}, {'connected_gene': 'GINM1', 'score': 10.4}, {'connected_gene': 'LATS1', 'score': 0.29}, {'connected_gene': 'KATNA1', 'score': 0.29}, {'connected_gene': 'GC06P149237', 'score': 0.05}]
chr6 GH06I148745 148745845 148749000 2.37 [{'connected_gene': 'UST', 'score': 554.99}, {'connected_gene': 'LATS1', 'score': 12.67}, {'connected_gene': 'KATNA1', 'score': 12.24}, {'connected_gene': 'PPIL4', 'score': 9.81}, {'connected_gene': 'GC06P148933', 'score': 0.09}]
chr6 GH06I150490 150490385 150494922 0.91 [{'connected_gene': 'HSPA8P15', 'score': 17.29}, {'connected_gene': 'LATS1', 'score': 17.0}, {'connected_gene': 'NUP43', 'score': 15.48}, {'connected_gene': 'PPIL4', 'score': 10.83}, {'connected_gene': 'KATNA1', 'score': 9.66}, {'connected_gene': 'LOC100420304', 'score': 0.37}, {'connected_gene': 'SSR1P1', 'score': 0.14}]
chr6 GH06I149755 149755184 149756413 1.21 [{'connected_gene': 'ENSG00000231760', 'score': 62.41}, {'connected_gene': 'LATS1', 'score': 16.97}, {'connected_gene': 'NUP43', 'score': 15.67}, {'connected_gene': 'PPIL4', 'score': 12.11}, {'connected_gene': 'KATNA1', 'score': 10.44}, {'connected_gene': 'RAET1E', 'score': 9.56}, {'connected_gene': 'PCMT1', 'score': 0.44}, {'connected_gene': 'BTBD10P2', 'score': 0.28}, {'connected_gene': 'GC06P149237', 'score': 0.03}]
chr6 GH06I149842 149842005 149848426 1.37 [{'connected_gene': 'ENSG00000231760', 'score': 44.25}, {'connected_gene': 'LATS1', 'score': 32.95}, {'connected_gene': 'GINM1', 'score': 20.26}, {'connected_gene': 'RPS18P9', 'score': 19.04}, {'connected_gene': 'RAET1E', 'score': 18.01}, {'connected_gene': 'NUP43', 'score': 16.81}, {'connected_gene': 'ENSG00000268592', 'score': 16.26}, {'connected_gene': 'LRP11', 'score': 16.15}, {'connected_gene': 'ENSG00000216906', 'score': 15.21}, {'connected_gene': 'KATNA1', 'score': 14.98}, {'connected_gene': 'PPIL4', 'score': 12.41}, {'connected_gene': 'TAB2', 'score': 9.77}, {'connected_gene': 'ENSG00000233330', 'score': 9.09}, {'connected_gene': 'ENSG00000202343', 'score': 9.09}, {'connected_gene': 'ENSG00000273132', 'score': 0.44}, {'connected_gene': 'GC06P149237', 'score': 0.03}]
chr6 GH06I150250 150250413 150258403 1.64 [{'connected_gene': 'ENSG00000268592', 'score': 15.94}, {'connected_gene': 'NUP43', 'score': 15.55}, {'connected_gene': 'ENSG00000216906', 'score': 15.04}, {'connected_gene': 'PPIL4', 'score': 13.33}, {'connected_gene': 'ENSG00000231760', 'score': 12.72}, {'connected_gene': 'KATNA1', 'score': 11.45}, {'connected_gene': 'LRP11', 'score': 11.34}, {'connected_gene': 'LATS1', 'score': 11.33}, {'connected_gene': 'ENSG00000238594', 'score': 11.3}, {'connected_gene': 'PPP1R14C', 'score': 10.82}, {'connected_gene': 'RAET1G', 'score': 3.97}, {'connected_gene': 'ULBP2', 'score': 1.63}, {'connected_gene': 'RAET1L', 'score': 1.25}, {'connected_gene': 'LOC105378054', 'score': 0.37}, {'connected_gene': 'GC06M150158', 'score': 0.14}]
chr6 GH06I149628 149628685 149629600 0.74 [{'connected_gene': 'ENSG00000231760', 'score': 35.43}, {'connected_gene': 'GC06P149633', 'score': 0.77}, {'connected_gene': 'KATNA1', 'score': 0.37}, {'connected_gene': 'ENSG00000202343', 'score': 0.29}, {'connected_gene': 'GC06P149237', 'score': 0.05}]

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