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
ENST00000430948 [[24544331, 24547571], [24551661, 24551753], [24554768, 24554859], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572926], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583831, 24583930], [24588820, 24589013], [24596100, 24596846], [24645854, 24646249]] [[24547392, 24547571], [24551661, 24551753], [24554768, 24554859], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572926], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583831, 24583930], [24588820, 24589013], [24596100, 24596766]]
ENST00000535378 [[24544331, 24547571], [24551661, 24551753], [24554768, 24554859], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572926], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583831, 24583930], [24588820, 24589013], [24596100, 24596846], [24600846, 24600937], [24601276, 24601436], [24645963, 24646383]] [[24547392, 24547571], [24551661, 24551753], [24554768, 24554859], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572926], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583831, 24583930], [24588820, 24589013], [24596100, 24596846], [24600846, 24600874]]
ENST00000537886 [[24544331, 24547571], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572926], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583831, 24583930], [24588820, 24589013], [24596100, 24596846], [24601276, 24601436], [24645963, 24646383]] [[24547392, 24547571], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572926], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583831, 24583930], [24588820, 24589013], [24596100, 24596846], [24601276, 24601331]]
ENST00000378214 [[24544334, 24547571], [24551661, 24551753], [24554768, 24554859], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572926], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583831, 24583930], [24588820, 24589013], [24596100, 24596846], [24601276, 24601436], [24645963, 24646383]] [[24547392, 24547571], [24551661, 24551753], [24554768, 24554859], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572926], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583831, 24583930], [24588820, 24589013], [24596100, 24596846], [24601276, 24601331]]
ENST00000543707 [[24547255, 24547571], [24551661, 24551753], [24554768, 24554859], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572926], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583831, 24583930], [24588820, 24589013], [24596100, 24596846], [24601276, 24601436], [24645854, 24645956]] [[24547392, 24547571], [24551661, 24551753], [24554768, 24554859], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572926], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583831, 24583930], [24588820, 24589013], [24596100, 24596846], [24601276, 24601331]]
NM_001168375 [[24544331, 24547571], [24551661, 24551753], [24554768, 24554859], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572926], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583831, 24583930], [24588820, 24589013], [24596100, 24596846], [24601276, 24601436], [24645854, 24646249]] [[24547392, 24547571], [24551661, 24551753], [24554768, 24554859], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572926], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583831, 24583930], [24588820, 24589013], [24596100, 24596846], [24601276, 24601331]]
NM_001168376 [[24544331, 24547571], [24551661, 24551753], [24554768, 24554859], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572926], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583831, 24583930], [24588820, 24589013], [24596100, 24596846], [24645854, 24646249]] [[24547392, 24547571], [24551661, 24551753], [24554768, 24554859], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572926], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583831, 24583930], [24588820, 24589013], [24596100, 24596766]]
NM_001168374 [[24544331, 24547571], [24551661, 24551753], [24554768, 24554859], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572926], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583831, 24583930], [24588820, 24589013], [24596100, 24596846], [24600846, 24600937], [24601276, 24601436], [24645963, 24646383]] [[24547392, 24547571], [24551661, 24551753], [24554768, 24554859], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572926], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583831, 24583930], [24588820, 24589013], [24596100, 24596846], [24600846, 24600874]]
NM_014809 [[24544331, 24547571], [24551661, 24551753], [24554768, 24554859], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572926], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583831, 24583930], [24588820, 24589013], [24596100, 24596846], [24601276, 24601436], [24645963, 24646383]] [[24547392, 24547571], [24551661, 24551753], [24554768, 24554859], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572926], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583831, 24583930], [24588820, 24589013], [24596100, 24596846], [24601276, 24601331]]
NM_001168377 [[24544331, 24547571], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572926], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583831, 24583930], [24588820, 24589013], [24596100, 24596846], [24601276, 24601436], [24645963, 24646383]] [[24547392, 24547571], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572926], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583831, 24583930], [24588820, 24589013], [24596100, 24596846], [24601276, 24601331]]
NM_001252328 [[24544331, 24547571], [24551661, 24551753], [24554768, 24554859], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572887], [24576595, 24576824], [24578337, 24578470], [24580085, 24580178], [24581153, 24581241], [24582476, 24582574], [24583288, 24583455]] [[24547392, 24547571], [24551661, 24551753], [24554768, 24554859], [24556834, 24556957], [24559240, 24559383], [24563586, 24563746], [24564429, 24564568], [24566824, 24566976], [24569008, 24569157], [24570130, 24570263], [24572802, 24572887], [24576595, 24576601]]
Promoter
Chrom Start End Description
chr6 24645982 24645991 CAGE_peak_7_at_KIAA0319_5end
chr6 24646381 24646425 CAGE_peak_1_at_KIAA0319_5end
chr6 24646431 24646462 CAGE_peak_2_at_KIAA0319_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I024708 24708484 24710105 0.59 [{'connected_gene': 'KIAA0319', 'score': 9.75}, {'connected_gene': 'ACOT13', 'score': 4.87}, {'connected_gene': 'ENSG00000272402', 'score': 0.77}, {'connected_gene': 'C6orf62', 'score': 0.39}]
chr6 GH06I024645 24645257 24647120 1.95 [{'connected_gene': 'KIAA0319', 'score': 566.59}, {'connected_gene': 'ACOT13', 'score': 17.89}, {'connected_gene': 'TDP2', 'score': 11.91}, {'connected_gene': 'C6orf62', 'score': 6.35}, {'connected_gene': 'KRT8P43', 'score': 5.12}]
chr6 GH06I024763 24763210 24764518 0.63 [{'connected_gene': 'C6orf62', 'score': 12.07}, {'connected_gene': 'KIAA0319', 'score': 10.65}, {'connected_gene': 'ENSG00000272402', 'score': 5.25}, {'connected_gene': 'GMNN', 'score': 4.93}, {'connected_gene': 'LOC100289381', 'score': 0.39}]
chr6 GH06I024710 24710557 24712005 0.49 [{'connected_gene': 'C6orf62', 'score': 18.38}, {'connected_gene': 'TDP2', 'score': 13.35}, {'connected_gene': 'KIAA0319', 'score': 8.04}, {'connected_gene': 'ACOT13', 'score': 4.91}, {'connected_gene': 'ENSG00000272402', 'score': 0.77}]
chr6 GH06I024716 24716996 24722842 2.36 [{'connected_gene': 'C6orf62', 'score': 573.96}, {'connected_gene': 'TDP2', 'score': 21.54}, {'connected_gene': 'ENSG00000272402', 'score': 20.49}, {'connected_gene': 'ACOT13', 'score': 15.51}, {'connected_gene': 'KIAA0319', 'score': 5.22}]
chr6 GH06I024655 24655176 24656780 0.38 [{'connected_gene': 'ACOT13', 'score': 5.81}, {'connected_gene': 'ENSG00000282804', 'score': 5.25}, {'connected_gene': 'KIAA0319', 'score': 0.44}, {'connected_gene': 'TDP2', 'score': 0.39}]
chr6 GH06I024657 24657973 24669533 2.79 [{'connected_gene': 'ACOT13', 'score': 561.15}, {'connected_gene': 'C6orf62', 'score': 23.36}, {'connected_gene': 'TDP2', 'score': 19.94}, {'connected_gene': 'KIAA0319', 'score': 12.88}, {'connected_gene': 'NUP50P2', 'score': 12.27}, {'connected_gene': 'ENSG00000272402', 'score': 12.24}, {'connected_gene': 'ENSG00000282804', 'score': 5.96}]
chr6 GH06I024689 24689729 24695995 0.8 [{'connected_gene': 'TDP2', 'score': 26.31}, {'connected_gene': 'KIAA0319', 'score': 17.25}, {'connected_gene': 'C6orf62', 'score': 12.48}, {'connected_gene': 'ACOT13', 'score': 12.11}, {'connected_gene': 'GPLD1', 'score': 10.68}, {'connected_gene': 'ALDH5A1', 'score': 10.68}, {'connected_gene': 'ENSG00000272345', 'score': 0.44}]
chr6 GH06I024685 24685943 24686180 0.22 [{'connected_gene': 'TDP2', 'score': 12.66}, {'connected_gene': 'KIAA0319', 'score': 10.48}, {'connected_gene': 'DCDC2', 'score': 5.44}, {'connected_gene': 'ENSG00000272345', 'score': 0.37}, {'connected_gene': 'ACOT13', 'score': 0.37}]
chr6 GH06I024683 24683327 24685253 0.76 [{'connected_gene': 'TDP2', 'score': 14.41}, {'connected_gene': 'KIAA0319', 'score': 11.05}, {'connected_gene': 'GMNN', 'score': 10.79}, {'connected_gene': 'ENSG00000272345', 'score': 0.37}, {'connected_gene': 'ACOT13', 'score': 0.37}]
chr6 GH06I024946 24946831 24955815 1.48 [{'connected_gene': 'TDP2', 'score': 10.99}, {'connected_gene': 'PPIAP29', 'score': 6.02}, {'connected_gene': 'C6orf62', 'score': 2.17}, {'connected_gene': 'KIAA0319', 'score': 1.43}, {'connected_gene': 'ALDH5A1', 'score': 1.27}, {'connected_gene': 'MTCO2P33', 'score': 0.77}, {'connected_gene': 'LOC105374981', 'score': 0.37}, {'connected_gene': 'RIPOR2', 'score': 0.16}]
chr6 GH06I024742 24742235 24744856 1.39 [{'connected_gene': 'LOC105374978', 'score': 550.77}, {'connected_gene': 'C6orf62', 'score': 12.87}, {'connected_gene': 'GMNN', 'score': 12.1}, {'connected_gene': 'KIAA0319', 'score': 10.42}, {'connected_gene': 'TDP2', 'score': 4.73}, {'connected_gene': 'KRT8P43', 'score': 4.49}, {'connected_gene': 'LOC100289381', 'score': 0.44}]
chr6 GH06I024583 24583254 24585302 1.17 [{'connected_gene': 'PIR39702', 'score': 550.77}, {'connected_gene': 'PIR60469', 'score': 550.77}, {'connected_gene': 'ACOT13', 'score': 23.25}, {'connected_gene': 'KIAA0319', 'score': 16.18}, {'connected_gene': 'TDP2', 'score': 11.95}, {'connected_gene': 'GPLD1', 'score': 10.45}, {'connected_gene': 'ALDH5A1', 'score': 10.45}]
chr6 GH06I024698 24698599 24705714 0.63 [{'connected_gene': 'ENSG00000272345', 'score': 550.77}, {'connected_gene': 'TDP2', 'score': 24.74}, {'connected_gene': 'KIAA0319', 'score': 18.17}, {'connected_gene': 'ACOT13', 'score': 17.81}, {'connected_gene': 'C6orf62', 'score': 17.75}, {'connected_gene': 'GPLD1', 'score': 10.68}, {'connected_gene': 'ALDH5A1', 'score': 10.68}, {'connected_gene': 'ENSG00000272402', 'score': 0.77}]
chr6 GH06I024581 24581193 24581322 0.69 [{'connected_gene': 'PIR60469', 'score': 550.77}, {'connected_gene': 'TDP2', 'score': 11.57}, {'connected_gene': 'ACOT13', 'score': 11.57}, {'connected_gene': 'KIAA0319', 'score': 11.1}, {'connected_gene': 'GPLD1', 'score': 10.45}, {'connected_gene': 'ALDH5A1', 'score': 10.45}, {'connected_gene': 'PIR52732', 'score': 0.23}]

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