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
ENST00000409977 [[93551397, 93553778], [93553908, 93554049], [93554162, 93554489], [93583577, 93583697]] [[93553734, 93553778], [93553908, 93554049], [93554162, 93554489], [93583577, 93583668]]
ENST00000398221 [[93551972, 93552018], [93553452, 93553778], [93553908, 93553925]] [[93553734, 93553778], [93553908, 93553925]]
ENST00000414919 [[93553729, 93554049], [93554162, 93555239]] None
NM_001144871 [[93553734, 93553778], [93553908, 93554049], [93554162, 93554489], [93583577, 93583668]] [[93553734, 93553778], [93553908, 93554049], [93554162, 93554489], [93583577, 93583668]]
Promoter
Chrom Start End Description
chr11 93583726 93583807 CAGE_peak_1_at_VSTM5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I093818 93818055 93818204 0.2 [{'connected_gene': 'VSTM5', 'score': 12.02}, {'connected_gene': 'MED17', 'score': 10.75}, {'connected_gene': 'TAF1D', 'score': 10.75}, {'connected_gene': 'GC11P093828', 'score': 0.44}, {'connected_gene': 'GC11P093800', 'score': 0.37}]
chr11 GH11I093849 93849300 93850844 1.64 [{'connected_gene': 'VSTM5', 'score': 559.18}, {'connected_gene': 'PANX1', 'score': 6.12}, {'connected_gene': 'ENSG00000206911', 'score': 0.34}]
chr11 GH11I093842 93842555 93842704 0.68 [{'connected_gene': 'VSTM5', 'score': 0.44}, {'connected_gene': 'ENSG00000206911', 'score': 0.37}]
chr11 GH11I093814 93814283 93816201 0.31 [{'connected_gene': 'C11orf54', 'score': 13.93}, {'connected_gene': 'VSTM5', 'score': 12.01}, {'connected_gene': 'MED17', 'score': 10.79}, {'connected_gene': 'TAF1D', 'score': 10.79}, {'connected_gene': 'GC11P093800', 'score': 0.39}, {'connected_gene': 'GC11P093828', 'score': 0.39}]
chr11 GH11I093817 93817219 93817988 0.2 [{'connected_gene': 'C11orf54', 'score': 42.91}, {'connected_gene': 'VSTM5', 'score': 12.02}, {'connected_gene': 'MED17', 'score': 10.75}, {'connected_gene': 'TAF1D', 'score': 10.75}, {'connected_gene': 'GC11P093828', 'score': 0.39}, {'connected_gene': 'GC11P093800', 'score': 0.37}]
chr11 GH11I093819 93819895 93820710 0.38 [{'connected_gene': 'GC11P093828', 'score': 0.44}, {'connected_gene': 'GC11P093800', 'score': 0.37}, {'connected_gene': 'VSTM5', 'score': 0.29}]
chr11 GH11I093820 93820941 93822507 0.69 [{'connected_gene': 'GC11P093828', 'score': 0.44}, {'connected_gene': 'GC11P093800', 'score': 0.34}, {'connected_gene': 'VSTM5', 'score': 0.31}]