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
ENST00000312637 [[99871008, 99871668], [99897757, 99897892], [99921884, 99922445]] [[99871234, 99871668], [99897757, 99897892], [99921884, 99921888]]
ENST00000509040 [[99871085, 99871668], [99921884, 99921932]] None
ENST00000505792 [[99897755, 99897892], [99917050, 99917108], [99921884, 99922433]] None
NM_198507 [[99871008, 99871668], [99897757, 99897892], [99921884, 99922445]] [[99871234, 99871668], [99897757, 99897892], [99921884, 99921888]]
Promoter
Chrom Start End Description
chr5 99871004 99871015 CAGE_peak_4_at_FAM174A_5end
chr5 99871021 99871096 CAGE_peak_1_at_FAM174A_5end
chr5 99871101 99871124 CAGE_peak_2_at_FAM174A_5end
chr5 99871145 99871154 CAGE_peak_5_at_FAM174A_5end
chr5 99871263 99871316 CAGE_peak_3_at_FAM174A_5end
chr5 99871318 99871332 CAGE_peak_6_at_FAM174A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I100270 100270105 100270722 0.2 [{'connected_gene': 'FAM174A', 'score': 4.62}, {'connected_gene': 'LOC105379101', 'score': 0.34}, {'connected_gene': 'LOC100133050', 'score': 0.13}]
chr5 GH05I100666 100666801 100668652 0.77 [{'connected_gene': 'FAM174A', 'score': 4.61}, {'connected_gene': 'ENSG00000250806', 'score': 0.44}, {'connected_gene': 'PIR62127', 'score': 0.34}, {'connected_gene': 'GC05P100589', 'score': 0.18}]
chr5 GH05I100594 100594268 100596769 0.95 [{'connected_gene': 'FAM174A', 'score': 16.48}, {'connected_gene': 'ENSG00000247877', 'score': 10.89}, {'connected_gene': 'GC05P100589', 'score': 0.44}, {'connected_gene': 'ENSG00000250806', 'score': 0.21}]
chr5 GH05I100550 100550534 100551560 0.79 [{'connected_gene': 'FAM174A', 'score': 0.37}, {'connected_gene': 'GC05P100589', 'score': 0.28}]
chr5 GH05I100534 100534275 100537162 1.97 [{'connected_gene': 'ENSG00000247877', 'score': 550.77}, {'connected_gene': 'FAM174A', 'score': 550.77}, {'connected_gene': 'GC05P100589', 'score': 0.23}]