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
ENST00000448904 [[53277398, 53277942], [53282670, 53282837], [53286850, 53287004], [53298131, 53298245], [53307353, 53307494], [53313165, 53313306], [53313764, 53313947]] [[53277729, 53277942], [53282670, 53282837], [53286850, 53287004], [53298131, 53298245], [53307353, 53307494], [53313165, 53313306], [53313764, 53313836]]
ENST00000377962 [[53277403, 53277945], [53282670, 53282837], [53286850, 53287004], [53298131, 53298245], [53307353, 53307494], [53313165, 53313306], [53313764, 53313915]] [[53277729, 53277945], [53282670, 53282837], [53286850, 53287004], [53298131, 53298245], [53307353, 53307494], [53313165, 53313306], [53313764, 53313836]]
ENST00000431550 [[53286850, 53287004], [53298131, 53298245], [53307353, 53307494], [53313165, 53313487]] [[53286850, 53287004], [53298131, 53298245], [53307353, 53307473]]
NM_007015 [[53277398, 53277945], [53282670, 53282837], [53286850, 53287004], [53298131, 53298245], [53307353, 53307494], [53313165, 53313306], [53313764, 53313947]] [[53277729, 53277945], [53282670, 53282837], [53286850, 53287004], [53298131, 53298245], [53307353, 53307494], [53313165, 53313306], [53313764, 53313836]]
NM_001011705 [[53277398, 53277942], [53282670, 53282837], [53286850, 53287004], [53298131, 53298245], [53307353, 53307494], [53313165, 53313306], [53313764, 53313947]] [[53277729, 53277942], [53282670, 53282837], [53286850, 53287004], [53298131, 53298245], [53307353, 53307494], [53313165, 53313306], [53313764, 53313836]]
Promoter
Chrom Start End Description
chr13 53313496 53313507 CAGE_peak_3_at_LECT1_5end
chr13 53313884 53313897 CAGE_peak_2_at_LECT1_5end
chr13 53313905 53313964 CAGE_peak_1_at_LECT1_5end
chr13 53314077 53314084 CAGE_peak_5_at_LECT1_5end
chr13 53314109 53314157 CAGE_peak_4_at_LECT1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I052737 52737991 52740323 1.49 [{'connected_gene': 'CNMD', 'score': 550.77}, {'connected_gene': 'CKAP2', 'score': 18.37}, {'connected_gene': 'TPTE2P2', 'score': 10.39}, {'connected_gene': 'ATP7B', 'score': 5.99}, {'connected_gene': 'PPIAP26', 'score': 4.89}, {'connected_gene': 'GC13M052678', 'score': 0.22}]
chr13 GH13I052728 52728706 52728855 0.71 [{'connected_gene': 'CNMD', 'score': 0.39}, {'connected_gene': 'GC13M052678', 'score': 0.25}]
chr13 GH13I052762 52762630 52762931 0.24 [{'connected_gene': 'MIR759', 'score': 10.69}, {'connected_gene': 'LOC105370209', 'score': 0.44}, {'connected_gene': 'CNMD', 'score': 0.34}]