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
ENST00000276943 [[27524311, 27524959], [27526004, 27526496]] [[27524334, 27524958]]
NM_020124 [[27524311, 27524959], [27526004, 27526496]] [[27524334, 27524958]]
Promoter
Chrom Start End Description
chr9 27524283 27524289 CAGE_peak_3_at_IFNK_5end
chr9 27524417 27524425 CAGE_peak_4_at_IFNK_5end
chr9 27524485 27524505 CAGE_peak_2_at_IFNK_5end
chr9 27524537 27524559 CAGE_peak_1_at_IFNK_5end
chr9 27524670 27524673 CAGE_peak_5_at_IFNK_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I027336 27336679 27342555 1.13 [{'connected_gene': 'IFT74', 'score': 13.6}, {'connected_gene': 'MOB3B', 'score': 12.37}, {'connected_gene': 'IFNK', 'score': 10.78}, {'connected_gene': 'EQTN', 'score': 10.61}, {'connected_gene': 'ENSG00000237734', 'score': 9.99}, {'connected_gene': 'C9orf72', 'score': 5.38}, {'connected_gene': 'GC09M027375', 'score': 0.28}]
chr9 GH09I027351 27351130 27352775 1.32 [{'connected_gene': 'IFT74', 'score': 23.72}, {'connected_gene': 'MOB3B', 'score': 11.44}, {'connected_gene': 'IFNK', 'score': 10.66}, {'connected_gene': 'C9orf72', 'score': 10.5}, {'connected_gene': 'PLAA', 'score': 1.23}, {'connected_gene': 'GC09M027375', 'score': 0.31}, {'connected_gene': 'EQTN', 'score': 0.23}]
chr9 GH09I027365 27365018 27373527 1.48 [{'connected_gene': 'MOB3B', 'score': 19.35}, {'connected_gene': 'IFT74', 'score': 15.44}, {'connected_gene': 'ENSG00000237734', 'score': 11.35}, {'connected_gene': 'EQTN', 'score': 10.29}, {'connected_gene': 'IFNK', 'score': 9.85}, {'connected_gene': 'C9orf72', 'score': 7.34}, {'connected_gene': 'PLAA', 'score': 1.22}, {'connected_gene': 'GC09M027375', 'score': 0.44}]
chr9 GH09I027332 27332783 27334059 1.33 [{'connected_gene': 'MOB3B', 'score': 13.98}, {'connected_gene': 'IFNK', 'score': 10.94}, {'connected_gene': 'EQTN', 'score': 10.51}, {'connected_gene': 'IFT74', 'score': 5.59}, {'connected_gene': 'C9orf72', 'score': 2.91}, {'connected_gene': 'GC09M027375', 'score': 0.25}]
chr9 GH09I027346 27346916 27348083 0.38 [{'connected_gene': 'MOB3B', 'score': 11.43}, {'connected_gene': 'IFNK', 'score': 10.67}, {'connected_gene': 'EQTN', 'score': 10.17}, {'connected_gene': 'GC09M027375', 'score': 0.29}]
chr9 GH09I027343 27343424 27346779 0.2 [{'connected_gene': 'MOB3B', 'score': 10.95}, {'connected_gene': 'IFNK', 'score': 10.68}, {'connected_gene': 'EQTN', 'score': 10.34}, {'connected_gene': 'GC09M027375', 'score': 0.29}]
chr9 GH09I027329 27329138 27331268 0.31 [{'connected_gene': 'MOB3B', 'score': 12.15}, {'connected_gene': 'IFNK', 'score': 10.94}, {'connected_gene': 'EQTN', 'score': 10.83}, {'connected_gene': 'GC09M027375', 'score': 0.25}]
chr9 GH09I027349 27349549 27350009 0.38 [{'connected_gene': 'MOB3B', 'score': 11.43}, {'connected_gene': 'IFNK', 'score': 10.66}, {'connected_gene': 'GC09M027375', 'score': 0.31}, {'connected_gene': 'EQTN', 'score': 0.23}]
chr9 GH09I027348 27348655 27349234 0.38 [{'connected_gene': 'MOB3B', 'score': 11.43}, {'connected_gene': 'IFNK', 'score': 10.67}, {'connected_gene': 'GC09M027375', 'score': 0.31}, {'connected_gene': 'EQTN', 'score': 0.23}]
chr9 GH09I027335 27335624 27335907 0.2 [{'connected_gene': 'MOB3B', 'score': 12.37}, {'connected_gene': 'IFNK', 'score': 10.41}, {'connected_gene': 'EQTN', 'score': 9.99}, {'connected_gene': 'GC09M027375', 'score': 0.26}]
chr9 GH09I027352 27352805 27354441 1.06 [{'connected_gene': 'MOB3B', 'score': 11.44}, {'connected_gene': 'IFNK', 'score': 10.66}, {'connected_gene': 'GC09M027375', 'score': 0.31}, {'connected_gene': 'EQTN', 'score': 0.22}]
chr9 GH09I027469 27469943 27471043 0.4 [{'connected_gene': 'MOB3B', 'score': 11.0}, {'connected_gene': 'IFNK', 'score': 10.83}, {'connected_gene': 'LOC105376001', 'score': 0.31}, {'connected_gene': 'ENSG00000237734', 'score': 0.18}]
chr9 GH09I027471 27471213 27471855 0.4 [{'connected_gene': 'MOB3B', 'score': 11.0}, {'connected_gene': 'IFNK', 'score': 10.83}, {'connected_gene': 'LOC105376001', 'score': 0.31}, {'connected_gene': 'ENSG00000237734', 'score': 0.18}]
chr9 GH09I027473 27473259 27473372 0.66 [{'connected_gene': 'MOB3B', 'score': 11.0}, {'connected_gene': 'IFNK', 'score': 10.83}, {'connected_gene': 'LOC105376001', 'score': 0.31}, {'connected_gene': 'ENSG00000237734', 'score': 0.18}]
chr9 GH09I027527 27527075 27530434 2.07 [{'connected_gene': 'MOB3B', 'score': 556.14}, {'connected_gene': 'C9orf72', 'score': 17.08}, {'connected_gene': 'EQTN', 'score': 8.81}, {'connected_gene': 'IFNK', 'score': 0.77}]
chr9 GH09I027507 27507013 27508578 0.2 [{'connected_gene': 'MOB3B', 'score': 28.66}, {'connected_gene': 'C9orf72', 'score': 16.34}, {'connected_gene': 'EQTN', 'score': 9.77}, {'connected_gene': 'LOC105376001', 'score': 0.44}, {'connected_gene': 'IFNK', 'score': 0.37}]
chr9 GH09I027549 27548623 27549505 0.63 [{'connected_gene': 'IFNK', 'score': 10.16}, {'connected_gene': 'MOB3B', 'score': 0.37}, {'connected_gene': 'C9orf72', 'score': 0.34}]
chr9 GH09I027548 27548203 27548412 0.72 [{'connected_gene': 'IFNK', 'score': 10.16}, {'connected_gene': 'MOB3B', 'score': 0.37}, {'connected_gene': 'C9orf72', 'score': 0.31}]
chr9 GH09I027514 27514643 27514792 0.2 [{'connected_gene': 'IFNK', 'score': 0.44}, {'connected_gene': 'MOB3B', 'score': 0.37}, {'connected_gene': 'LOC105376001', 'score': 0.37}]
chr9 GH09I027525 27524241 27524300 0.7 [{'connected_gene': 'IFNK', 'score': 550.77}, {'connected_gene': 'MOB3B', 'score': 0.44}, {'connected_gene': 'LOC105376001', 'score': 0.31}]
chr9 GH09I027524 27524535 27524594 0.7 [{'connected_gene': 'IFNK', 'score': 550.77}, {'connected_gene': 'MOB3B', 'score': 550.44}]
chr9 GH09I027444 27444992 27449526 0.46 [{'connected_gene': 'IFNK', 'score': 9.76}, {'connected_gene': 'EQTN', 'score': 9.44}, {'connected_gene': 'LOC105376001', 'score': 0.23}, {'connected_gene': 'ENSG00000237734', 'score': 0.22}, {'connected_gene': 'MOB3B', 'score': 0.18}]
chr9 GH09I027406 27406809 27409164 0.94 [{'connected_gene': 'IFNK', 'score': 10.76}, {'connected_gene': 'EQTN', 'score': 10.19}, {'connected_gene': 'ENSG00000237734', 'score': 0.37}, {'connected_gene': 'LOC105376001', 'score': 0.16}, {'connected_gene': 'MOB3B', 'score': 0.13}]
chr9 GH09I027491 27491303 27491392 0.52 [{'connected_gene': 'IFNK', 'score': 10.64}, {'connected_gene': 'C9orf72', 'score': 5.53}, {'connected_gene': 'LOC105376001', 'score': 0.44}, {'connected_gene': 'MOB3B', 'score': 0.28}, {'connected_gene': 'ENSG00000237734', 'score': 0.15}]
chr9 GH09I027495 27495472 27496989 0.57 [{'connected_gene': 'IFNK', 'score': 10.66}, {'connected_gene': 'C9orf72', 'score': 9.38}, {'connected_gene': 'LOC105376001', 'score': 0.77}, {'connected_gene': 'MOB3B', 'score': 0.29}, {'connected_gene': 'ENSG00000237734', 'score': 0.15}]
chr9 GH09I027458 27458780 27466034 1.5 [{'connected_gene': 'C9orf72', 'score': 17.82}, {'connected_gene': 'MOB3B', 'score': 11.21}, {'connected_gene': 'ENSG00000237734', 'score': 10.19}, {'connected_gene': 'IFNK', 'score': 10.14}, {'connected_gene': 'EQTN', 'score': 9.46}, {'connected_gene': 'LOC105376001', 'score': 0.28}]
chr9 GH09I027550 27550545 27552309 0.2 [{'connected_gene': 'C9orf72', 'score': 16.4}, {'connected_gene': 'MOB3B', 'score': 12.3}, {'connected_gene': 'IFNK', 'score': 10.84}, {'connected_gene': 'EQTN', 'score': 10.05}]
chr9 GH09I027501 27501882 27504749 0.2 [{'connected_gene': 'C9orf72', 'score': 14.72}, {'connected_gene': 'MOB3B', 'score': 11.53}, {'connected_gene': 'IFNK', 'score': 11.14}, {'connected_gene': 'LOC105376001', 'score': 0.77}]
chr9 GH09I027505 27505236 27506701 0.2 [{'connected_gene': 'C9orf72', 'score': 15.23}, {'connected_gene': 'MOB3B', 'score': 11.56}, {'connected_gene': 'EQTN', 'score': 10.43}, {'connected_gene': 'ENSG00000237734', 'score': 10.41}, {'connected_gene': 'LOC105376001', 'score': 0.44}, {'connected_gene': 'IFNK', 'score': 0.37}]
chr9 GH09I027518 27518293 27521173 0.69 [{'connected_gene': 'C9orf72', 'score': 15.37}, {'connected_gene': 'IFNK', 'score': 0.77}, {'connected_gene': 'MOB3B', 'score': 0.39}, {'connected_gene': 'LOC105376001', 'score': 0.34}]
chr9 GH09I027515 27515556 27517293 0.2 [{'connected_gene': 'C9orf72', 'score': 11.43}, {'connected_gene': 'IFNK', 'score': 0.44}, {'connected_gene': 'MOB3B', 'score': 0.39}, {'connected_gene': 'LOC105376001', 'score': 0.37}]
chr9 GH09I027581 27581905 27583023 0.58 [{'connected_gene': 'C9orf72', 'score': 10.32}, {'connected_gene': 'IFNK', 'score': 5.23}, {'connected_gene': 'CTAGE12P', 'score': 0.31}]
chr9 GH09I027487 27487330 27490366 1.04 [{'connected_gene': 'C9orf72', 'score': 16.32}, {'connected_gene': 'IFNK', 'score': 10.63}, {'connected_gene': 'LOC105376001', 'score': 0.44}, {'connected_gene': 'MOB3B', 'score': 0.26}, {'connected_gene': 'ENSG00000237734', 'score': 0.15}]
chr9 GH09I027466 27466684 27466923 0.44 [{'connected_gene': 'C9orf72', 'score': 12.62}, {'connected_gene': 'IFNK', 'score': 10.38}, {'connected_gene': 'LOC105376001', 'score': 0.29}, {'connected_gene': 'MOB3B', 'score': 0.21}, {'connected_gene': 'ENSG00000237734', 'score': 0.18}]
chr9 GH09I027497 27497744 27500471 1.05 [{'connected_gene': 'LOC105376001', 'score': 550.77}, {'connected_gene': 'C9orf72', 'score': 14.81}, {'connected_gene': 'MOB3B', 'score': 11.51}, {'connected_gene': 'IFNK', 'score': 11.1}]
chr9 GH09I027354 27354932 27355480 0.2 [{'connected_gene': 'ENSG00000237734', 'score': 10.77}, {'connected_gene': 'IFNK', 'score': 9.99}, {'connected_gene': 'EQTN', 'score': 9.93}, {'connected_gene': 'GC09M027375', 'score': 0.34}, {'connected_gene': 'MOB3B', 'score': 0.09}]
chr9 GH09I027412 27412699 27415359 0.97 [{'connected_gene': 'ENSG00000237734', 'score': 11.73}, {'connected_gene': 'IFNK', 'score': 10.76}, {'connected_gene': 'EQTN', 'score': 10.18}, {'connected_gene': 'LOC105376001', 'score': 0.18}, {'connected_gene': 'MOB3B', 'score': 0.13}]
chr9 GH09I027423 27423861 27431032 1.12 [{'connected_gene': 'ENSG00000237734', 'score': 11.29}, {'connected_gene': 'IFNK', 'score': 10.4}, {'connected_gene': 'EQTN', 'score': 9.77}, {'connected_gene': 'LOC105376001', 'score': 0.19}, {'connected_gene': 'MOB3B', 'score': 0.15}]
chr9 GH09I027431 27431225 27432612 0.78 [{'connected_gene': 'ENSG00000237734', 'score': 10.56}, {'connected_gene': 'IFNK', 'score': 10.2}, {'connected_gene': 'LOC105376001', 'score': 0.2}, {'connected_gene': 'MOB3B', 'score': 0.15}]