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
ENST00000228567 [[33527172, 33529836], [33532766, 33532896], [33535283, 33535455], [33538105, 33538226], [33559723, 33560291], [33579072, 33579430], [33592306, 33592754]] [[33529764, 33529836], [33532766, 33532896], [33535283, 33535455], [33538105, 33538226], [33559723, 33560291], [33579072, 33579430], [33592306, 33592457]]
ENST00000535526 [[33529207, 33529836], [33532766, 33532896], [33535283, 33535455], [33538105, 33538226], [33559723, 33560291], [33561173, 33561253], [33576844, 33576944], [33579072, 33579430], [33592306, 33592581]] [[33529764, 33529836], [33532766, 33532896], [33535283, 33535455], [33538105, 33538226], [33559723, 33560257]]
ENST00000539102 [[33529207, 33529836], [33532766, 33532896], [33535283, 33535455], [33538105, 33538226], [33559723, 33560291], [33561173, 33561253], [33576844, 33576944], [33579072, 33579430], [33592306, 33592581]] [[33576868, 33576944], [33579072, 33579430], [33592306, 33592457]]
ENST00000567656 [[33560732, 33561253], [33579072, 33579095]] None
NM_198992 [[33528347, 33529836], [33532766, 33532896], [33535283, 33535455], [33538105, 33538226], [33559723, 33560291], [33579072, 33579430], [33592306, 33592754]] [[33529764, 33529836], [33532766, 33532896], [33535283, 33535455], [33538105, 33538226], [33559723, 33560291], [33579072, 33579430], [33592306, 33592457]]
Promoter
Chrom Start End Description
chr12 33592574 33592584 CAGE_peak_6_at_SYT10_5end
chr12 33592743 33592764 CAGE_peak_1_at_SYT10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I033529 33529601 33530217 0.31 [{'connected_gene': 'SYT10', 'score': 10.56}, {'connected_gene': 'RNU6-400P', 'score': 0.25}, {'connected_gene': 'GC12P033476', 'score': 0.23}]
chr12 GH12I033115 33115796 33116925 0.2 [{'connected_gene': 'SYT10', 'score': 4.11}, {'connected_gene': 'GC12P033085', 'score': 0.29}, {'connected_gene': 'GC12P033250', 'score': 0.12}, {'connected_gene': 'GC12P033249', 'score': 0.12}]
chr12 GH12I033440 33439600 33440015 1.74 [{'connected_gene': 'SYT10', 'score': 570.44}, {'connected_gene': 'ENSG00000259937', 'score': 5.38}, {'connected_gene': 'ENSG00000273853', 'score': 0.44}]
chr12 GH12I033439 33439066 33439215 0.43 [{'connected_gene': 'SYT10', 'score': 550.77}, {'connected_gene': 'ENSG00000259937', 'score': 4.86}, {'connected_gene': 'ENSG00000273853', 'score': 0.44}]
chr12 GH12I033318 33317165 33317380 0.2 [{'connected_gene': 'SYT10', 'score': 5.05}, {'connected_gene': 'GC12M033249', 'score': 0.44}, {'connected_gene': 'ENSG00000259937', 'score': 0.17}]
chr12 GH12I033441 33439266 33439415 0.56 [{'connected_gene': 'SYT10', 'score': 550.77}, {'connected_gene': 'ENSG00000273853', 'score': 0.44}]
chr12 GH12I033438 33438826 33438975 0.46 [{'connected_gene': 'SYT10', 'score': 550.77}, {'connected_gene': 'ENSG00000273853', 'score': 0.44}]
chr12 GH12I034346 34346384 34347589 0.2 [{'connected_gene': 'ALG10', 'score': 6.28}, {'connected_gene': 'SYT10', 'score': 3.93}, {'connected_gene': 'PIR59367', 'score': 0.22}, {'connected_gene': 'PIR33437', 'score': 0.18}]
chr12 GH12I033020 33020828 33022009 0.65 [{'connected_gene': 'ENSG00000259937', 'score': 5.12}, {'connected_gene': 'SYT10', 'score': 4.11}, {'connected_gene': 'ENSG00000257435', 'score': 0.29}, {'connected_gene': 'GC12P033085', 'score': 0.21}]