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
ENST00000263707 [[121974162, 121981963], [121983137, 121983189], [121989401, 121989544], [121991666, 121991770], [121992796, 121992887], [121995198, 121995292], [121995377, 121995426], [121997133, 121997225], [121999934, 122000045], [122004393, 122004546], [122005739, 122005846], [122006557, 122006663], [122007146, 122007223], [122038695, 122038847], [122042623, 122042783]] [[121981916, 121981963], [121983137, 121983189], [121989401, 121989544], [121991666, 121991770], [121992796, 121992887], [121995198, 121995292], [121995377, 121995426], [121997133, 121997225], [121999934, 122000045], [122004393, 122004546], [122005739, 122005846], [122006557, 122006663], [122007146, 122007223], [122038695, 122038847], [122042623, 122042685]]
ENST00000464621 [[121981739, 121981963], [121983137, 121983189], [121989401, 121989544], [121991666, 121991850]] None
NM_014553 [[121974162, 121981963], [121983137, 121983189], [121989401, 121989544], [121991666, 121991770], [121992796, 121992887], [121995198, 121995292], [121995377, 121995426], [121997133, 121997225], [121999934, 122000045], [122004393, 122004546], [122005739, 122005846], [122006557, 122006663], [122007146, 122007223], [122038695, 122038847], [122042623, 122042778]] [[121981916, 121981963], [121983137, 121983189], [121989401, 121989544], [121991666, 121991770], [121992796, 121992887], [121995198, 121995292], [121995377, 121995426], [121997133, 121997225], [121999934, 122000045], [122004393, 122004546], [122005739, 122005846], [122006557, 122006663], [122007146, 122007223], [122038695, 122038847], [122042623, 122042685]]
Promoter
Chrom Start End Description
chr2 122042770 122042785 CAGE_peak_1_at_TFCP2L1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I121196 121196097 121199004 1.06 [{'connected_gene': 'TFCP2L1', 'score': 12.08}, {'connected_gene': 'CLASP1', 'score': 1.6}, {'connected_gene': 'ENSG00000236145', 'score': 0.37}, {'connected_gene': 'PIR40716', 'score': 0.34}]
chr2 GH02I121171 121171925 121175689 0.58 [{'connected_gene': 'TFCP2L1', 'score': 7.63}, {'connected_gene': 'ENSG00000236145', 'score': 0.77}, {'connected_gene': 'LOC105373588', 'score': 0.29}]
chr2 GH02I121287 121287201 121287869 0.2 [{'connected_gene': 'TFCP2L1', 'score': 6.39}, {'connected_gene': 'RPS17P7', 'score': 0.34}]
chr2 GH02I121293 121293224 121294141 0.49 [{'connected_gene': 'TFCP2L1', 'score': 7.1}, {'connected_gene': 'RPS17P7', 'score': 0.37}]
chr2 GH02I121185 121185057 121186649 0.74 [{'connected_gene': 'TFCP2L1', 'score': 8.52}, {'connected_gene': 'ENSG00000236145', 'score': 0.44}, {'connected_gene': 'PIR40716', 'score': 0.29}]
chr2 GH02I121181 121181609 121183326 0.31 [{'connected_gene': 'TFCP2L1', 'score': 8.46}, {'connected_gene': 'ENSG00000236145', 'score': 0.77}, {'connected_gene': 'PIR40716', 'score': 0.28}]
chr2 GH02I121284 121284016 121285654 1.76 [{'connected_gene': 'TFCP2L1', 'score': 556.43}, {'connected_gene': 'GC02P121255', 'score': 0.31}]
chr2 GH02I121309 121309651 121310296 0.56 [{'connected_gene': 'RPS17P7', 'score': 550.77}, {'connected_gene': 'TFCP2L1', 'score': 12.75}]