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
ENST00000274813 [[49398072, 49399569], [49403168, 49403336], [49407918, 49408066], [49409552, 49409684], [49412351, 49412467], [49415382, 49415498], [49416528, 49416640], [49419178, 49419427], [49421297, 49421469], [49423792, 49423950], [49425403, 49425771], [49426794, 49427218], [49430815, 49430904]] [[49399440, 49399569], [49403168, 49403336], [49407918, 49408066], [49409552, 49409684], [49412351, 49412467], [49415382, 49415498], [49416528, 49416640], [49419178, 49419427], [49421297, 49421469], [49423792, 49423950], [49425403, 49425771], [49426794, 49427179]]
NM_000255 [[49398072, 49399569], [49403168, 49403336], [49407918, 49408066], [49409552, 49409684], [49412351, 49412467], [49415382, 49415498], [49416528, 49416640], [49419178, 49419427], [49421297, 49421469], [49423792, 49423950], [49425403, 49425771], [49426794, 49427218], [49430815, 49431041]] [[49399440, 49399569], [49403168, 49403336], [49407918, 49408066], [49409552, 49409684], [49412351, 49412467], [49415382, 49415498], [49416528, 49416640], [49419178, 49419427], [49421297, 49421469], [49423792, 49423950], [49425403, 49425771], [49426794, 49427179]]
Promoter
Chrom Start End Description
chr6 49430856 49430871 CAGE_peak_3_at_MUT_5end
chr6 49430886 49430988 CAGE_peak_1_at_MUT_5end
chr6 49431002 49431027 CAGE_peak_2_at_MUT_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I049555 49555607 49557565 1.38 [{'connected_gene': 'CENPQ', 'score': 12.81}, {'connected_gene': 'PGK2', 'score': 9.9}, {'connected_gene': 'LOC101927020', 'score': 9.35}, {'connected_gene': 'LOC101927048', 'score': 9.35}, {'connected_gene': 'MUT', 'score': 7.51}, {'connected_gene': 'C6orf141', 'score': 0.44}, {'connected_gene': 'CYP2AC1P', 'score': 0.34}]
chr6 GH06I049325 49325521 49327694 0.69 [{'connected_gene': 'MUT', 'score': 20.21}, {'connected_gene': 'CENPQ', 'score': 6.0}, {'connected_gene': 'RNU7-65P', 'score': 0.37}, {'connected_gene': 'ENSG00000217631', 'score': 0.23}]
chr6 GH06I049461 49461880 49464401 2.08 [{'connected_gene': 'MUT', 'score': 589.43}, {'connected_gene': 'CENPQ', 'score': 550.77}, {'connected_gene': 'GC06P049407', 'score': 0.22}]
chr6 GH06I049523 49523003 49524274 0.94 [{'connected_gene': 'MUT', 'score': 15.98}, {'connected_gene': 'GLYATL3', 'score': 11.92}, {'connected_gene': 'LOC101927020', 'score': 10.07}, {'connected_gene': 'LOC101927048', 'score': 10.06}, {'connected_gene': 'CENPQ', 'score': 6.3}, {'connected_gene': 'GC06P049517', 'score': 0.44}, {'connected_gene': 'GC06M049537', 'score': 0.39}]
chr6 GH06I048729 48729743 48730111 0.24 [{'connected_gene': 'MUT', 'score': 5.19}, {'connected_gene': 'ENSG00000278736', 'score': 0.31}, {'connected_gene': 'PIR62700', 'score': 0.25}]
chr6 GH06I048999 48999785 49000154 0.22 [{'connected_gene': 'MUT', 'score': 1.75}, {'connected_gene': 'GC06M048966', 'score': 0.44}, {'connected_gene': 'GC06P049023', 'score': 0.34}]
chr6 GH06I048765 48765233 48767236 0.6 [{'connected_gene': 'PTCHD4', 'score': 11.0}, {'connected_gene': 'RNU1-105P', 'score': 9.91}, {'connected_gene': 'MUT', 'score': 5.56}, {'connected_gene': 'PIR62700', 'score': 0.39}, {'connected_gene': 'ENSG00000278736', 'score': 0.21}]
chr6 GH06I049908 49908630 49910356 0.38 [{'connected_gene': 'GLYATL3', 'score': 10.63}, {'connected_gene': 'MUT', 'score': 4.36}, {'connected_gene': 'GC06P049919', 'score': 0.44}, {'connected_gene': 'CRISP1', 'score': 0.29}]
chr6 GH06I049549 49549688 49555452 2.34 [{'connected_gene': 'C6orf141', 'score': 550.77}, {'connected_gene': 'MUT', 'score': 7.65}, {'connected_gene': 'CENPQ', 'score': 6.7}, {'connected_gene': 'CYP2AC1P', 'score': 0.31}]
chr6 GH06I049766 49766455 49770933 0.9 [{'connected_gene': 'LOC101927020', 'score': 19.9}, {'connected_gene': 'CRISP3', 'score': 11.78}, {'connected_gene': 'LOC101927048', 'score': 11.24}, {'connected_gene': 'MUT', 'score': 5.36}, {'connected_gene': 'CRISP2', 'score': 4.97}, {'connected_gene': 'C6orf141', 'score': 4.86}, {'connected_gene': 'PGK2', 'score': 0.37}]