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
ENST00000333206 [[32831031, 32834345], [32843476, 32843621], [32843908, 32844419], [32870047, 32870172]] [[32833413, 32834345], [32843476, 32843621], [32843908, 32844316]]
ENST00000420878 [[32831031, 32834345], [32843476, 32843621], [32843908, 32844419], [32847439, 32847643], [32870047, 32870196]] [[32833413, 32834345], [32843476, 32843621], [32843908, 32844316]]
ENST00000590777 [[32832557, 32834585]] None
ENST00000589178 [[32840606, 32843204], [32843476, 32843621], [32843908, 32844419], [32870047, 32870161]] [[32843091, 32843204], [32843476, 32843621], [32843908, 32844316]]
ENST00000383091 [[32843091, 32843204], [32843476, 32843621], [32843908, 32844419], [32847439, 32847643], [32870047, 32870196]] [[32843091, 32843204], [32843476, 32843621], [32843908, 32844316]]
ENST00000588448 [[32843259, 32843621], [32843908, 32844010]] [[32843447, 32843621], [32843908, 32844010]]
ENST00000601405 [[32843259, 32843602], [32844181, 32844348]] [[32843581, 32843602], [32844181, 32844316]]
ENST00000592278 [[32843548, 32843677], [32843908, 32844419], [32870094, 32870185]] [[32843647, 32843677], [32843908, 32844316]]
ENST00000592598 [[32844109, 32844419], [32847439, 32847646], [32847841, 32847912]] [[32844109, 32844316]]
ENST00000592211 [[32844173, 32844419], [32847439, 32847643], [32870094, 32870193]] [[32844173, 32844316]]
ENST00000588832 [[32869308, 32869787], [32870094, 32870196]] None
NM_001166012 [[32831021, 32834345], [32843476, 32843621], [32843908, 32844419], [32847439, 32847643], [32870047, 32870209]] [[32833413, 32834345], [32843476, 32843621], [32843908, 32844316]]
NM_001112734 [[32831021, 32834345], [32843476, 32843621], [32843908, 32844419], [32870047, 32870209]] [[32833413, 32834345], [32843476, 32843621], [32843908, 32844316]]
NM_001288711 [[32831021, 32834345], [32870094, 32870209]] [[32833413, 32834337]]
Promoter
Chrom Start End Description
chr18 32870122 32870133 CAGE_peak_2_at_ZSCAN30_5end
chr18 32870148 32870223 CAGE_peak_1_at_ZSCAN30_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I035230 35230957 35231400 1.06 [{'connected_gene': 'ZNF396', 'score': 10.65}, {'connected_gene': 'ZSCAN30', 'score': 4.26}, {'connected_gene': 'ZNF397', 'score': 0.44}, {'connected_gene': 'PIR47170', 'score': 0.44}]
chr18 GH18I034492 34492677 34494800 1.97 [{'connected_gene': 'DTNA', 'score': 550.77}, {'connected_gene': 'ZNF397', 'score': 10.68}, {'connected_gene': 'ZSCAN30', 'score': 4.06}, {'connected_gene': 'RPL10AP13', 'score': 0.18}]
chr18 GH18I034591 34591282 34594925 1.74 [{'connected_gene': 'DTNA', 'score': 550.15}, {'connected_gene': 'ZSCAN30', 'score': 4.32}, {'connected_gene': 'RPL10AP13', 'score': 0.37}, {'connected_gene': 'ENSG00000268873', 'score': 0.09}]
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 GH18I035249 35249710 35249817 0.22 [{'connected_gene': 'ZSCAN30', 'score': 5.15}, {'connected_gene': 'ZNF397', 'score': 2.71}, {'connected_gene': 'PIR50065', 'score': 0.77}, {'connected_gene': 'PIR48276', 'score': 0.77}]
chr18 GH18I035266 35266817 35268626 1.59 [{'connected_gene': 'ZSCAN30', 'score': 561.94}, {'connected_gene': 'ENSG00000274184', 'score': 550.77}, {'connected_gene': 'ZNF24', 'score': 7.17}, {'connected_gene': 'ENSG00000279989', 'score': 0.39}, {'connected_gene': 'ZNF397', 'score': 0.31}]
chr18 GH18I035388 35388874 35389857 0.51 [{'connected_gene': 'ZSCAN30', 'score': 7.65}, {'connected_gene': 'ZNF24', 'score': 5.07}, {'connected_gene': 'RPL7AP67', 'score': 0.44}, {'connected_gene': 'LOC105372063', 'score': 0.37}]
chr18 GH18I035109 35109590 35112048 0.95 [{'connected_gene': 'ZSCAN30', 'score': 5.3}, {'connected_gene': 'MAPRE2', 'score': 4.89}, {'connected_gene': 'ENSG00000280096', 'score': 0.31}, {'connected_gene': 'ENSG00000274400', 'score': 0.29}]
chr18 GH18I035325 35325037 35325206 0.2 [{'connected_gene': 'ZSCAN30', 'score': 12.35}, {'connected_gene': 'ENSG00000274918', 'score': 0.44}, {'connected_gene': 'GC18M035337', 'score': 0.39}, {'connected_gene': 'ZNF271P', 'score': 0.29}]
chr18 GH18I035153 35153592 35154706 0.69 [{'connected_gene': 'ZSCAN30', 'score': 5.37}, {'connected_gene': 'ENSG00000274400', 'score': 0.44}, {'connected_gene': 'PIR47170', 'score': 0.19}]
chr18 GH18I035281 35281780 35283283 0.46 [{'connected_gene': 'PIR57805', 'score': 550.77}, {'connected_gene': 'ZNF24', 'score': 6.99}, {'connected_gene': 'ZNF396', 'score': 6.24}, {'connected_gene': 'MAPRE2', 'score': 4.73}, {'connected_gene': 'ZSCAN30', 'score': 0.44}, {'connected_gene': 'ENSG00000268573', 'score': 0.44}, {'connected_gene': 'ENSG00000274184', 'score': 0.39}]
chr18 GH18I035289 35289144 35291444 2.1 [{'connected_gene': 'ENSG00000268573', 'score': 573.92}, {'connected_gene': 'ZSCAN30', 'score': 555.26}, {'connected_gene': 'ZNF271P', 'score': 550.77}, {'connected_gene': 'ZNF397', 'score': 31.34}, {'connected_gene': 'C18orf21', 'score': 12.57}, {'connected_gene': 'ZNF24', 'score': 8.02}, {'connected_gene': 'GC18M035301', 'score': 0.39}, {'connected_gene': 'PIR53427', 'score': 0.39}]
chr18 GH18I035268 35268937 35269086 0.2 [{'connected_gene': 'ENSG00000274184', 'score': 550.77}, {'connected_gene': 'ZSCAN30', 'score': 11.94}, {'connected_gene': 'PIR57805', 'score': 0.37}]