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
ENST00000326669 [[149721494, 149722177]] [[149721527, 149721815]]
NM_001002255 [[149721494, 149722182]] [[149721527, 149721815]]
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 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 GH06I149361 149361201 149361400 0.31 [{'connected_gene': 'SUMO4', 'score': 12.58}, {'connected_gene': 'TAB2', 'score': 12.42}, {'connected_gene': 'RPS18P9', 'score': 11.17}, {'connected_gene': 'TAB2-AS1', 'score': 10.84}, {'connected_gene': 'ENSG00000202343', 'score': 10.83}, {'connected_gene': 'LATS1', 'score': 9.99}, {'connected_gene': 'GC06P149383', 'score': 0.34}, {'connected_gene': 'FABP12P1', 'score': 0.22}, {'connected_gene': 'GC06P149237', 'score': 0.13}]
chr6 GH06I149332 149332085 149333026 0.56 [{'connected_gene': 'SUMO4', 'score': 11.88}, {'connected_gene': 'TAB2', 'score': 11.81}, {'connected_gene': 'TAB2-AS1', 'score': 10.4}, {'connected_gene': 'FABP12P1', 'score': 0.31}, {'connected_gene': 'GC06P149383', 'score': 0.23}, {'connected_gene': 'GC06P149237', 'score': 0.15}]
chr6 GH06I149334 149333201 149333400 0.69 [{'connected_gene': 'SUMO4', 'score': 11.88}, {'connected_gene': 'TAB2', 'score': 11.8}, {'connected_gene': 'TAB2-AS1', 'score': 10.39}, {'connected_gene': 'FABP12P1', 'score': 0.31}, {'connected_gene': 'GC06P149383', 'score': 0.23}, {'connected_gene': 'GC06P149237', 'score': 0.15}]
chr6 GH06I149350 149350719 149353735 0.38 [{'connected_gene': 'SUMO4', 'score': 13.35}, {'connected_gene': 'TAB2', 'score': 13.22}, {'connected_gene': 'ENSG00000228408', 'score': 11.11}, {'connected_gene': 'TAB2-AS1', 'score': 10.83}, {'connected_gene': 'RNU7-3P', 'score': 10.21}, {'connected_gene': 'PPIL4', 'score': 10.19}, {'connected_gene': 'GINM1', 'score': 9.74}, {'connected_gene': 'ENSG00000231760', 'score': 5.61}, {'connected_gene': 'GC06P149383', 'score': 0.29}, {'connected_gene': 'FABP12P1', 'score': 0.25}, {'connected_gene': 'GC06P149237', 'score': 0.13}]
chr6 GH06I149358 149358970 149361079 0.69 [{'connected_gene': 'SUMO4', 'score': 13.37}, {'connected_gene': 'TAB2', 'score': 13.22}, {'connected_gene': 'ENSG00000228408', 'score': 11.1}, {'connected_gene': 'TAB2-AS1', 'score': 10.84}, {'connected_gene': 'RNU7-3P', 'score': 10.21}, {'connected_gene': 'PPIL4', 'score': 10.2}, {'connected_gene': 'GC06P149383', 'score': 0.34}, {'connected_gene': 'FABP12P1', 'score': 0.22}, {'connected_gene': 'GC06P149237', 'score': 0.13}]
chr6 GH06I149355 149355359 149357136 0.31 [{'connected_gene': 'SUMO4', 'score': 13.37}, {'connected_gene': 'TAB2', 'score': 13.22}, {'connected_gene': 'ENSG00000228408', 'score': 11.11}, {'connected_gene': 'TAB2-AS1', 'score': 10.83}, {'connected_gene': 'RNU7-3P', 'score': 10.21}, {'connected_gene': 'PPIL4', 'score': 10.2}, {'connected_gene': 'ENSG00000231760', 'score': 6.3}, {'connected_gene': 'GC06P149383', 'score': 0.31}, {'connected_gene': 'FABP12P1', 'score': 0.23}, {'connected_gene': 'GC06P149237', 'score': 0.13}]
chr6 GH06I149392 149392254 149394751 0.67 [{'connected_gene': 'SUMO4', 'score': 0.44}, {'connected_gene': 'GC06P149383', 'score': 0.44}, {'connected_gene': 'GC06P149237', 'score': 0.1}, {'connected_gene': 'TAB2', 'score': 0.1}]
chr6 GH06I149431 149431890 149432813 1.14 [{'connected_gene': 'SUMO4', 'score': 12.04}, {'connected_gene': 'LOC105378047', 'score': 11.93}, {'connected_gene': 'TAB2', 'score': 11.82}, {'connected_gene': 'TAB2-AS1', 'score': 10.63}, {'connected_gene': 'ENSG00000231760', 'score': 6.02}, {'connected_gene': 'ZC3H12D', 'score': 0.23}, {'connected_gene': 'GC06P149237', 'score': 0.08}]
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 GH06I149477 149477167 149478065 0.97 [{'connected_gene': 'ZC3H12D', 'score': 8.67}, {'connected_gene': 'ENSG00000231760', 'score': 7.2}, {'connected_gene': 'SUMO4', 'score': 0.18}, {'connected_gene': 'GC06P149237', 'score': 0.07}]
chr6 GH06I149457 149457778 149458071 0.55 [{'connected_gene': 'ZC3H12D', 'score': 1.87}, {'connected_gene': 'TAB2', 'score': 1.23}, {'connected_gene': 'SUMO4', 'score': 0.22}, {'connected_gene': 'GC06P149237', 'score': 0.07}]
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 GH06I149329 149329893 149331722 0.59 [{'connected_gene': 'TAB2', 'score': 18.51}, {'connected_gene': 'SUMO4', 'score': 11.88}, {'connected_gene': 'TAB2-AS1', 'score': 10.5}, {'connected_gene': 'GINM1', 'score': 4.29}, {'connected_gene': 'FABP12P1', 'score': 0.31}, {'connected_gene': 'GC06P149383', 'score': 0.23}, {'connected_gene': 'GC06P149237', 'score': 0.16}]
chr6 GH06I149097 149095667 149095852 0.4 [{'connected_gene': 'TAB2', 'score': 12.26}, {'connected_gene': 'SUMO4', 'score': 12.19}, {'connected_gene': 'TAB2-AS1', 'score': 10.85}, {'connected_gene': 'GC06M149112', 'score': 0.37}, {'connected_gene': 'LOC105378046', 'score': 0.25}]
chr6 GH06I149095 149095992 149096197 0.54 [{'connected_gene': 'TAB2', 'score': 15.13}, {'connected_gene': 'SUMO4', 'score': 12.19}, {'connected_gene': 'TAB2-AS1', 'score': 10.85}, {'connected_gene': 'GC06M149112', 'score': 0.37}, {'connected_gene': 'LOC105378046', 'score': 0.25}]
chr6 GH06I149333 149333783 149338214 1.23 [{'connected_gene': 'TAB2', 'score': 18.12}, {'connected_gene': 'SUMO4', 'score': 11.89}, {'connected_gene': 'LOC105378047', 'score': 11.05}, {'connected_gene': 'TAB2-AS1', 'score': 10.39}, {'connected_gene': 'ENSG00000231760', 'score': 5.66}, {'connected_gene': 'FABP12P1', 'score': 0.29}, {'connected_gene': 'GC06P149383', 'score': 0.25}, {'connected_gene': 'GC06P149237', 'score': 0.15}]
chr6 GH06I149365 149365429 149366962 0.69 [{'connected_gene': 'TAB2', 'score': 17.69}, {'connected_gene': 'SUMO4', 'score': 13.04}, {'connected_gene': 'RNU7-3P', 'score': 10.15}, {'connected_gene': 'PPIL4', 'score': 10.14}, {'connected_gene': 'TAB2-AS1', 'score': 9.89}, {'connected_gene': 'GC06P149383', 'score': 0.37}, {'connected_gene': 'FABP12P1', 'score': 0.21}, {'connected_gene': 'GC06P149237', 'score': 0.13}]
chr6 GH06I149132 149132265 149133275 1.11 [{'connected_gene': 'TAB2', 'score': 17.3}, {'connected_gene': 'ENSG00000228408', 'score': 10.93}, {'connected_gene': 'TAB2-AS1', 'score': 10.76}, {'connected_gene': 'ZC3H12D', 'score': 1.95}, {'connected_gene': 'SUMO4', 'score': 1.86}, {'connected_gene': 'PIR33930', 'score': 0.39}]
chr6 GH06I149213 149212493 149213877 1.38 [{'connected_gene': 'TAB2-AS1', 'score': 11.64}, {'connected_gene': 'ENSG00000228408', 'score': 10.16}, {'connected_gene': 'ZC3H12D', 'score': 4.75}, {'connected_gene': 'TAB2', 'score': 4.03}, {'connected_gene': 'SUMO4', 'score': 2.32}, {'connected_gene': 'PIR33930', 'score': 0.16}]
chr6 GH06I149423 149423362 149424350 1.07 [{'connected_gene': 'LOC105378047', 'score': 11.62}, {'connected_gene': 'RNU7-3P', 'score': 11.2}, {'connected_gene': 'PPIL4', 'score': 11.17}, {'connected_gene': 'TAB2-AS1', 'score': 10.68}, {'connected_gene': 'ENSG00000231760', 'score': 5.9}, {'connected_gene': 'NUP43', 'score': 4.26}, {'connected_gene': 'SUMO4', 'score': 0.34}, {'connected_gene': 'ZC3H12D', 'score': 0.21}, {'connected_gene': 'GC06P149237', 'score': 0.09}]
chr6 GH06I149029 149029742 149034511 1.58 [{'connected_gene': 'LOC105378047', 'score': 550.77}, {'connected_gene': 'RNU7-3P', 'score': 10.89}, {'connected_gene': 'PPIL4', 'score': 10.88}, {'connected_gene': 'UST-AS1', 'score': 10.02}, {'connected_gene': 'TAB2-AS1', 'score': 10.0}, {'connected_gene': 'ENSG00000202343', 'score': 9.98}, {'connected_gene': 'GINM1', 'score': 9.16}, {'connected_gene': 'TAB2', 'score': 6.67}, {'connected_gene': 'ZC3H12D', 'score': 2.22}, {'connected_gene': 'SUMO4', 'score': 1.35}, {'connected_gene': 'UST', 'score': 0.06}]
chr6 GH06I149406 149406200 149406401 0.94 [{'connected_gene': 'RNU7-3P', 'score': 10.47}, {'connected_gene': 'PPIL4', 'score': 10.45}, {'connected_gene': 'TAB2-AS1', 'score': 10.36}, {'connected_gene': 'SUMO4', 'score': 0.44}, {'connected_gene': 'ZC3H12D', 'score': 0.18}, {'connected_gene': 'GC06P149237', 'score': 0.1}, {'connected_gene': 'TAB2', 'score': 0.09}]
chr6 GH06I149387 149387905 149388054 0.56 [{'connected_gene': 'GC06P149383', 'score': 0.77}, {'connected_gene': 'SUMO4', 'score': 0.39}, {'connected_gene': 'GC06P149237', 'score': 0.1}, {'connected_gene': 'TAB2', 'score': 0.09}]
chr6 GH06I149478 149478565 149478972 0.96 [{'connected_gene': 'ENSG00000231760', 'score': 7.21}, {'connected_gene': 'ZC3H12D', 'score': 4.59}, {'connected_gene': 'LATS1', 'score': 1.58}, {'connected_gene': 'TAB2', 'score': 1.55}, {'connected_gene': 'PPIL4', 'score': 1.45}, {'connected_gene': 'SUMO4', 'score': 0.18}, {'connected_gene': 'GC06P149237', 'score': 0.07}]
chr6 GH06I149458 149458222 149460645 0.38 [{'connected_gene': 'ENSG00000231760', 'score': 6.57}, {'connected_gene': 'ZC3H12D', 'score': 0.31}, {'connected_gene': 'SUMO4', 'score': 0.22}, {'connected_gene': 'GC06P149237', 'score': 0.07}]
chr6 GH06I149450 149450262 149452482 0.58 [{'connected_gene': 'ENSG00000231760', 'score': 7.25}, {'connected_gene': 'ZC3H12D', 'score': 0.29}, {'connected_gene': 'SUMO4', 'score': 0.23}, {'connected_gene': 'GC06P149237', 'score': 0.08}]
chr6 GH06I149463 149463616 149465386 0.49 [{'connected_gene': 'ENSG00000231760', 'score': 6.57}, {'connected_gene': 'ZC3H12D', 'score': 0.34}, {'connected_gene': 'SUMO4', 'score': 0.21}, {'connected_gene': 'GC06P149237', 'score': 0.07}]
chr6 GH06I149465 149465854 149470046 1.17 [{'connected_gene': 'ENSG00000231760', 'score': 6.51}, {'connected_gene': 'ZC3H12D', 'score': 0.37}, {'connected_gene': 'SUMO4', 'score': 0.2}, {'connected_gene': 'GC06P149237', 'score': 0.07}]
chr6 GH06I149445 149445178 149446343 0.6 [{'connected_gene': 'ENSG00000231760', 'score': 6.73}, {'connected_gene': 'ZC3H12D', 'score': 0.28}, {'connected_gene': 'SUMO4', 'score': 0.25}, {'connected_gene': 'GC06P149237', 'score': 0.08}]
chr6 GH06I149383 149383149 149384594 0.43 [{'connected_gene': 'GC06P149383', 'score': 550.77}, {'connected_gene': 'TAB2', 'score': 6.8}, {'connected_gene': 'SUMO4', 'score': 0.37}, {'connected_gene': 'GC06P149237', 'score': 0.11}]
chr6 GH06I149754 149754544 149754800 0.47 [{'connected_gene': 'ENSG00000231760', 'score': 11.14}, {'connected_gene': 'RAET1E', 'score': 9.56}, {'connected_gene': 'SUMO4', 'score': 1.76}, {'connected_gene': 'PCMT1', 'score': 0.44}, {'connected_gene': 'NUP43', 'score': 0.44}, {'connected_gene': 'BTBD10P2', 'score': 0.26}, {'connected_gene': 'GC06P149237', 'score': 0.03}]
chr6 GH06I149453 149453256 149455638 1.09 [{'connected_gene': 'ENSG00000231760', 'score': 7.19}, {'connected_gene': 'GINM1', 'score': 5.73}, {'connected_gene': 'ZC3H12D', 'score': 0.29}, {'connected_gene': 'SUMO4', 'score': 0.23}, {'connected_gene': 'GC06P149237', 'score': 0.08}]

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