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
ENST00000274400 [[70330783, 70331623], [70333333, 70333373], [70337348, 70337451], [70338007, 70338111], [70341270, 70341334], [70343832, 70343940], [70344588, 70344676], [70344894, 70344985], [70351178, 70351284], [70355516, 70355571], [70355946, 70355997], [70356670, 70356757], [70357098, 70357135], [70357514, 70357592], [70358534, 70358623], [70363320, 70363428]] [[70331503, 70331623], [70333333, 70333373], [70337348, 70337451], [70338007, 70338111], [70341270, 70341334], [70343832, 70343940], [70344588, 70344676], [70344894, 70344985], [70351178, 70351284], [70355516, 70355571], [70355946, 70355997], [70356670, 70356757], [70357098, 70357135], [70357514, 70357592], [70358534, 70358590]]
ENST00000425596 [[70330841, 70331623], [70333333, 70333373], [70337348, 70337451], [70338007, 70338111], [70341270, 70341334], [70343832, 70343940], [70344588, 70344676], [70344894, 70344985], [70351178, 70351284], [70355516, 70355571], [70355946, 70355997], [70356670, 70356757], [70357514, 70357592], [70358534, 70358623], [70363320, 70363430]] [[70331503, 70331623], [70333333, 70333373], [70337348, 70337451], [70338007, 70338111], [70341270, 70341334], [70343832, 70343940], [70344588, 70344676], [70344894, 70344985], [70351178, 70351284], [70355516, 70355571], [70355946, 70355997], [70356670, 70356757]]
ENST00000519783 [[70330842, 70331623], [70333333, 70333373], [70337348, 70337451], [70338007, 70338111], [70341270, 70341334], [70343832, 70343940], [70344588, 70344676], [70344894, 70344985], [70351178, 70351284], [70355516, 70355571], [70355946, 70355997], [70356670, 70356757], [70357514, 70357592], [70358534, 70358623], [70363320, 70363428]] [[70356735, 70356757], [70357514, 70357592], [70358534, 70358590]]
ENST00000330280 [[70330902, 70331623], [70333333, 70333373], [70337348, 70337451], [70338007, 70338111], [70341270, 70341334], [70343832, 70343940], [70344588, 70344676], [70344894, 70344985], [70351178, 70351284], [70355516, 70355571], [70355946, 70355997], [70356670, 70356757], [70357098, 70357135], [70357514, 70357592], [70358534, 70358623], [70360951, 70361049], [70363320, 70363477]] [[70331503, 70331623], [70333333, 70333373], [70337348, 70337451], [70338007, 70338111], [70341270, 70341334], [70343832, 70343940], [70344588, 70344676], [70344894, 70344985], [70351178, 70351284], [70355516, 70355571], [70355946, 70355997], [70356670, 70356757], [70357098, 70357135], [70357514, 70357592], [70358534, 70358590]]
ENST00000518898 [[70331155, 70331623], [70333333, 70333373], [70337348, 70337451], [70338007, 70338111], [70341270, 70341334], [70343832, 70343940], [70344588, 70344676], [70344894, 70344985], [70346043, 70346132], [70351178, 70351284], [70355516, 70355571], [70355946, 70355997], [70356670, 70356757], [70357098, 70357135], [70357514, 70357592]] [[70346089, 70346132], [70351178, 70351284], [70355516, 70355571], [70355946, 70355997], [70356670, 70356757], [70357098, 70357135], [70357514, 70357592]]
ENST00000517900 [[70331408, 70331511], [70355516, 70355571], [70355946, 70355997], [70356670, 70356757], [70357098, 70357135], [70357514, 70357592], [70358534, 70358623], [70363320, 70363479]] [[70331503, 70331511], [70355516, 70355571], [70355946, 70355997], [70356670, 70356757], [70357098, 70357135], [70357514, 70357592], [70358534, 70358590]]
ENST00000521942 [[70343282, 70344676], [70344894, 70344985], [70351178, 70351284], [70355516, 70355571], [70355946, 70355997], [70356670, 70356757], [70357098, 70357135], [70357514, 70357592], [70358534, 70358626]] None
ENST00000522654 [[70343915, 70343940], [70344588, 70344985], [70351178, 70351284], [70355516, 70355571], [70355946, 70355997], [70356670, 70356757], [70357098, 70357135], [70357514, 70357592], [70358534, 70358623], [70363320, 70363501]] None
ENST00000523003 [[70350856, 70351284], [70355516, 70355571], [70355946, 70355997], [70356670, 70356757], [70357098, 70357135], [70357514, 70357592], [70358534, 70358623], [70363481, 70363516]] None
ENST00000521858 [[70353701, 70355212], [70355516, 70355571], [70355946, 70355997], [70356670, 70356757], [70357514, 70357592], [70358534, 70358626]] None
ENST00000523693 [[70356333, 70356757], [70357098, 70357135], [70357514, 70357592], [70358534, 70358623], [70363320, 70363503]] None
ENST00000508592 [[70357236, 70357592], [70358534, 70358590]] None
ENST00000521602 [[70357577, 70357592], [70358534, 70358623], [70363122, 70363475]] [[70357577, 70357592], [70358534, 70358590]]
ENST00000518275 [[70358578, 70358623], [70360951, 70361049], [70363122, 70363465]] None
NM_001515 [[70330950, 70331623], [70333333, 70333373], [70337348, 70337451], [70338007, 70338111], [70341270, 70341334], [70343832, 70343940], [70344588, 70344676], [70344894, 70344985], [70351178, 70351284], [70355516, 70355571], [70355946, 70355997], [70356670, 70356757], [70357098, 70357135], [70357514, 70357592], [70358534, 70358623], [70363320, 70363497]] [[70331503, 70331623], [70333333, 70333373], [70337348, 70337451], [70338007, 70338111], [70341270, 70341334], [70343832, 70343940], [70344588, 70344676], [70344894, 70344985], [70351178, 70351284], [70355516, 70355571], [70355946, 70355997], [70356670, 70356757], [70357098, 70357135], [70357514, 70357592], [70358534, 70358590]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I071030 71030601 71032400 0.2 [{'connected_gene': 'SERF1A', 'score': 4.13}, {'connected_gene': 'NAIP', 'score': 0.44}, {'connected_gene': 'GTF2H2', 'score': 0.28}]
chr5 GH05I071025 71025600 71026000 0.2 [{'connected_gene': 'NAIP', 'score': 550.77}, {'connected_gene': 'GTF2H2', 'score': 0.26}]
chr5 GH05I070952 70952201 70952800 0.2 [{'connected_gene': 'GTF2H2', 'score': 5.93}, {'connected_gene': 'ENSG00000179978', 'score': 4.09}, {'connected_gene': 'SMN1', 'score': 0.31}, {'connected_gene': 'NAIP', 'score': 0.19}]
chr5 GH05I071066 71066800 71068400 1 [{'connected_gene': 'GTF2H2', 'score': 550.77}, {'connected_gene': 'NAIP', 'score': 0.26}]
chr5 GH05I071063 71063088 71063147 0.5 [{'connected_gene': 'GTF2H2', 'score': 550.77}, {'connected_gene': 'NAIP', 'score': 0.28}]

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