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
ENST00000592173 [[33032193, 33034932], [33058245, 33058313], [33059263, 33059375], [33060416, 33060527], [33077682, 33077897]] [[33034785, 33034932], [33058245, 33058313], [33059263, 33059375], [33060416, 33060527], [33077682, 33077838]]
ENST00000334598 [[33048296, 33048706], [33058245, 33058313], [33059263, 33059375], [33060416, 33060527], [33077682, 33077955]] [[33048574, 33048706], [33058245, 33058313], [33059263, 33059375], [33060416, 33060527], [33077682, 33077838]]
ENST00000590757 [[33048297, 33048706], [33077682, 33077868]] [[33048574, 33048706], [33077682, 33077838]]
ENST00000441607 [[33048426, 33048706], [33058245, 33058313], [33059263, 33059375], [33060416, 33060527], [33067349, 33067403], [33069295, 33069349], [33077682, 33077907]] [[33048574, 33048706], [33058245, 33058313], [33059263, 33059375], [33060416, 33060527], [33067349, 33067403], [33069295, 33069349], [33077682, 33077838]]
ENST00000586489 [[33048547, 33048706], [33058245, 33058313], [33059263, 33059375], [33060416, 33060527], [33077469, 33077613]] [[33048574, 33048706], [33058245, 33058313], [33059263, 33059375], [33060416, 33060518]]
ENST00000587450 [[33048634, 33048706], [33058245, 33058313], [33077682, 33077924]] [[33048634, 33048706], [33058245, 33058313], [33077682, 33077838]]
ENST00000591139 [[33048674, 33048706], [33058245, 33058313], [33059263, 33059375], [33060416, 33060527], [33067349, 33067434]] [[33048674, 33048706], [33058245, 33058313], [33059263, 33059375], [33060416, 33060527], [33067349, 33067434]]
ENST00000283410 [[33058958, 33059375], [33060416, 33060527], [33077682, 33077943]] None
ENST00000586449 [[33059294, 33059375], [33060419, 33060527], [33067349, 33067787], [33069295, 33069349], [33077682, 33077899]] [[33067727, 33067787], [33069295, 33069349], [33077682, 33077838]]
ENST00000589273 [[33060430, 33060527], [33076738, 33076846], [33077469, 33077563]] [[33060430, 33060518]]
ENST00000585971 [[33069041, 33069349], [33077682, 33077924]] None
ENST00000589053 [[33077472, 33077906]] None
NM_001308064 [[33048290, 33048706], [33058245, 33058313], [33059263, 33059375], [33060416, 33060527], [33077469, 33077613]] [[33048574, 33048706], [33058245, 33058313], [33059263, 33059375], [33060416, 33060518]]
NM_001098817 [[33048290, 33048706], [33058245, 33058313], [33059263, 33059375], [33060416, 33060527], [33067349, 33067403], [33069295, 33069349], [33077682, 33077955]] [[33048574, 33048706], [33058245, 33058313], [33059263, 33059375], [33060416, 33060527], [33067349, 33067403], [33069295, 33069349], [33077682, 33077838]]
NM_194281 [[33048290, 33048706], [33058245, 33058313], [33059263, 33059375], [33060416, 33060527], [33077682, 33077955]] [[33048574, 33048706], [33058245, 33058313], [33059263, 33059375], [33060416, 33060527], [33077682, 33077838]]
Promoter
Chrom Start End Description
chr18 33077556 33077610 CAGE_peak_3_at_INO80C_5end
chr18 33077883 33077933 CAGE_peak_1_at_INO80C_5end
chr18 33077942 33077953 CAGE_peak_5_at_INO80C_5end
chr18 33077964 33078002 CAGE_peak_2_at_INO80C_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I035701 35701853 35704553 0.8 [{'connected_gene': 'ZNF397', 'score': 19.44}, {'connected_gene': 'ELP2', 'score': 13.52}, {'connected_gene': 'ENSG00000268573', 'score': 12.69}, {'connected_gene': 'ENSG00000267583', 'score': 10.1}, {'connected_gene': 'GALNT1', 'score': 5.51}, {'connected_gene': 'INO80C', 'score': 4.54}, {'connected_gene': 'LOC105372064', 'score': 0.44}, {'connected_gene': 'GC18P035714', 'score': 0.39}]
chr18 GH18I035770 35770474 35770677 0.38 [{'connected_gene': 'MIR187', 'score': 10.98}, {'connected_gene': 'ZNF396', 'score': 4.58}, {'connected_gene': 'INO80C', 'score': 1.57}, {'connected_gene': 'ZNF24', 'score': 1.35}, {'connected_gene': 'ENSG00000267397', 'score': 0.23}, {'connected_gene': 'NRBF2P1', 'score': 0.19}]
chr18 GH18I035512 35512340 35516734 1.38 [{'connected_gene': 'GALNT1', 'score': 13.8}, {'connected_gene': 'ZNF396', 'score': 10.46}, {'connected_gene': 'INO80C', 'score': 6.13}]
chr18 GH18I035501 35501517 35502515 0.99 [{'connected_gene': 'GALNT1', 'score': 11.34}, {'connected_gene': 'ZNF396', 'score': 10.27}, {'connected_gene': 'INO80C', 'score': 8.75}]
chr18 GH18I035565 35565001 35565200 0.6 [{'connected_gene': 'GALNT1', 'score': 0.37}, {'connected_gene': 'INO80C', 'score': 0.2}]
chr18 GH18I035552 35552709 35554008 0.67 [{'connected_gene': 'GALNT1', 'score': 12.11}, {'connected_gene': 'INO80C', 'score': 0.22}]
chr18 GH18I035546 35546867 35548017 0.2 [{'connected_gene': 'GALNT1', 'score': 11.8}, {'connected_gene': 'INO80C', 'score': 0.25}]
chr18 GH18I035578 35578537 35580040 0.38 [{'connected_gene': 'GALNT1', 'score': 550.77}, {'connected_gene': 'INO80C', 'score': 0.18}]
chr18 GH18I035525 35525802 35527006 1 [{'connected_gene': 'SLC39A6', 'score': 5.16}, {'connected_gene': 'INO80C', 'score': 0.31}, {'connected_gene': 'GALNT1', 'score': 0.23}]
chr18 GH18I035494 35493946 35494760 0.66 [{'connected_gene': 'ZNF396', 'score': 10.37}, {'connected_gene': 'C18orf21', 'score': 10.13}, {'connected_gene': 'INO80C', 'score': 8.29}, {'connected_gene': 'ENSG00000267140', 'score': 0.77}, {'connected_gene': 'ENSG00000279074', 'score': 0.39}]
chr18 GH18I035487 35487897 35492256 0.92 [{'connected_gene': 'ZNF396', 'score': 10.38}, {'connected_gene': 'C18orf21', 'score': 10.12}, {'connected_gene': 'INO80C', 'score': 6.25}, {'connected_gene': 'ENSG00000279074', 'score': 0.44}, {'connected_gene': 'ENSG00000267140', 'score': 0.44}]
chr18 GH18I035493 35493774 35493940 0.75 [{'connected_gene': 'ZNF396', 'score': 10.37}, {'connected_gene': 'C18orf21', 'score': 10.13}, {'connected_gene': 'INO80C', 'score': 8.29}, {'connected_gene': 'ENSG00000267140', 'score': 0.77}, {'connected_gene': 'ENSG00000279074', 'score': 0.39}]
chr18 GH18I035496 35495201 35495400 0.51 [{'connected_gene': 'ZNF396', 'score': 10.37}, {'connected_gene': 'C18orf21', 'score': 10.13}, {'connected_gene': 'ENSG00000267140', 'score': 0.77}, {'connected_gene': 'INO80C', 'score': 0.77}, {'connected_gene': 'ENSG00000279074', 'score': 0.39}]
chr18 GH18I035809 35809651 35810965 1.2 [{'connected_gene': 'ZNF396', 'score': 6.33}, {'connected_gene': 'ZNF24', 'score': 4.04}, {'connected_gene': 'INO80C', 'score': 1.84}, {'connected_gene': 'NRBF2P1', 'score': 0.29}, {'connected_gene': 'ENSG00000267397', 'score': 0.16}]
chr18 GH18I035835 35835867 35836114 0.78 [{'connected_gene': 'ZNF396', 'score': 5.43}, {'connected_gene': 'ZNF24', 'score': 3.03}, {'connected_gene': 'INO80C', 'score': 2.68}, {'connected_gene': 'NRBF2P1', 'score': 0.44}, {'connected_gene': 'ENSG00000267397', 'score': 0.13}]
chr18 GH18I035825 35825976 35829667 1.23 [{'connected_gene': 'ZNF396', 'score': 6.16}, {'connected_gene': 'RPRD1A', 'score': 4.76}, {'connected_gene': 'C18orf21', 'score': 4.39}, {'connected_gene': 'ZNF24', 'score': 3.65}, {'connected_gene': 'INO80C', 'score': 2.4}, {'connected_gene': 'NRBF2P1', 'score': 0.39}, {'connected_gene': 'ENSG00000267397', 'score': 0.14}]
chr18 GH18I035506 35506780 35509306 0.91 [{'connected_gene': 'ZNF396', 'score': 10.46}, {'connected_gene': 'INO80C', 'score': 7.25}, {'connected_gene': 'GALNT1', 'score': 0.19}]
chr18 GH18I035507 35506197 35506346 0.82 [{'connected_gene': 'ZNF396', 'score': 10.47}, {'connected_gene': 'INO80C', 'score': 7.53}, {'connected_gene': 'GALNT1', 'score': 0.19}]
chr18 GH18I035511 35511657 35511766 0.67 [{'connected_gene': 'ZNF396', 'score': 10.46}, {'connected_gene': 'INO80C', 'score': 0.39}, {'connected_gene': 'GALNT1', 'score': 0.2}]
chr18 GH18I035495 35495482 35498608 2.35 [{'connected_gene': 'INO80C', 'score': 558.31}, {'connected_gene': 'ENSG00000267140', 'score': 550.77}, {'connected_gene': 'ENSG00000268573', 'score': 87.13}, {'connected_gene': 'ZNF397', 'score': 80.97}, {'connected_gene': 'ZSCAN30', 'score': 53.0}, {'connected_gene': 'ELP2', 'score': 48.88}, {'connected_gene': 'RPRD1A', 'score': 29.99}, {'connected_gene': 'C18orf21', 'score': 20.32}, {'connected_gene': 'ZNF271P', 'score': 11.06}, {'connected_gene': 'ZNF396', 'score': 10.37}, {'connected_gene': 'ENSG00000279074', 'score': 0.39}]
chr18 GH18I035524 35523601 35523800 0.43 [{'connected_gene': 'INO80C', 'score': 0.31}, {'connected_gene': 'GALNT1', 'score': 0.22}]
chr18 GH18I035523 35523877 35524599 0.76 [{'connected_gene': 'INO80C', 'score': 0.31}, {'connected_gene': 'GALNT1', 'score': 0.22}]
chr18 GH18I035475 35475952 35482999 1.57 [{'connected_gene': 'INO80C', 'score': 5.93}, {'connected_gene': 'ZNF396', 'score': 4.5}, {'connected_gene': 'MAPRE2', 'score': 3.07}, {'connected_gene': 'ZNF24', 'score': 2.77}, {'connected_gene': 'ENSG00000279074', 'score': 0.77}, {'connected_gene': 'ENSG00000267583', 'score': 0.39}, {'connected_gene': 'ENSG00000267140', 'score': 0.37}]
chr18 GH18I035441 35441598 35443006 0.83 [{'connected_gene': 'INO80C', 'score': 5.23}, {'connected_gene': 'ENSG00000267583', 'score': 0.34}, {'connected_gene': 'LOC105372063', 'score': 0.29}]
chr18 GH18I035455 35455848 35465545 1.68 [{'connected_gene': 'INO80C', 'score': 18.27}, {'connected_gene': 'LOC101927809', 'score': 5.97}, {'connected_gene': 'ENSG00000267583', 'score': 4.96}, {'connected_gene': 'MAPRE2', 'score': 1.45}, {'connected_gene': 'ENSG00000267140', 'score': 0.28}, {'connected_gene': 'LOC105372063', 'score': 0.23}]
chr18 GH18I035473 35473167 35474164 0.2 [{'connected_gene': 'ZNF271P', 'score': 4.11}, {'connected_gene': 'ENSG00000267583', 'score': 0.44}, {'connected_gene': 'ENSG00000279074', 'score': 0.39}, {'connected_gene': 'ENSG00000267140', 'score': 0.34}, {'connected_gene': 'INO80C', 'score': 0.34}]
chr18 GH18I035695 35695568 35695952 0.34 [{'connected_gene': 'LOC105372064', 'score': 550.77}, {'connected_gene': 'INO80C', 'score': 4.28}, {'connected_gene': 'LOC105372065', 'score': 0.37}, {'connected_gene': 'GALNT1', 'score': 0.14}]
chr18 GH18I035466 35466861 35467776 0.77 [{'connected_gene': 'ENSG00000267583', 'score': 550.77}, {'connected_gene': 'ENSG00000279074', 'score': 0.37}, {'connected_gene': 'ENSG00000267140', 'score': 0.29}, {'connected_gene': 'INO80C', 'score': 0.29}]

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