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
ENST00000230792 [[102884555, 102886672], [102887917, 102888117], [102890440, 102890554], [102891631, 102891799], [102894579, 102895169], [102895743, 102895955], [102898403, 102898494]] [[102886561, 102886672], [102887917, 102888117], [102890440, 102890554], [102891631, 102891799], [102894579, 102895169], [102895743, 102895949]]
ENST00000507423 [[102886208, 102886672], [102887917, 102888117], [102890440, 102890554], [102891631, 102891799], [102894579, 102895169], [102895797, 102895955], [102898403, 102898490]] [[102886561, 102886672], [102887917, 102888117], [102890440, 102890554], [102891631, 102891799], [102894579, 102895169], [102895797, 102895949]]
ENST00000515407 [[102890202, 102890554], [102891631, 102891790]] None
ENST00000508889 [[102895105, 102895951], [102898403, 102898491]] None
NM_031438 [[102884555, 102886672], [102887917, 102888117], [102890440, 102890554], [102891631, 102891799], [102894579, 102895169], [102895743, 102895955], [102898403, 102898502]] [[102886561, 102886672], [102887917, 102888117], [102890440, 102890554], [102891631, 102891799], [102894579, 102895169], [102895743, 102895949]]
NM_001300741 [[102884555, 102886672], [102887917, 102888117], [102890440, 102890554], [102891631, 102891799], [102894579, 102895169], [102895797, 102895955], [102898403, 102898502]] [[102886561, 102886672], [102887917, 102888117], [102890440, 102890554], [102891631, 102891799], [102894579, 102895169], [102895797, 102895949]]
Promoter
Chrom Start End Description
chr5 102898443 102898460 CAGE_peak_2_at_NUDT12_5end
chr5 102898465 102898518 CAGE_peak_1_at_NUDT12_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I103544 103544537 103544934 0.22 [{'connected_gene': 'C5orf30', 'score': 3.52}, {'connected_gene': 'LINC02115', 'score': 0.77}, {'connected_gene': 'NUDT12', 'score': 0.37}]
chr5 GH05I103522 103522103 103524265 0.52 [{'connected_gene': 'NUDT12', 'score': 12.17}, {'connected_gene': 'PDZPH1P', 'score': 0.77}, {'connected_gene': 'ENSG00000250567', 'score': 0.14}]
chr5 GH05I103568 103568721 103570324 0.49 [{'connected_gene': 'NUDT12', 'score': 5.75}, {'connected_gene': 'LOC105379107', 'score': 0.15}]
chr5 GH05I103565 103565307 103566542 0.2 [{'connected_gene': 'NUDT12', 'score': 0.77}, {'connected_gene': 'LOC105379107', 'score': 0.15}]
chr5 GH05I103531 103531781 103533149 0.31 [{'connected_gene': 'NUDT12', 'score': 26.3}, {'connected_gene': 'LINC02115', 'score': 0.44}, {'connected_gene': 'PDZPH1P', 'score': 0.44}]
chr5 GH05I103561 103561528 103563486 1.94 [{'connected_gene': 'NUDT12', 'score': 578.05}, {'connected_gene': 'LINC02115', 'score': 0.34}]
chr5 GH05I103621 103621253 103622112 0.2 [{'connected_gene': 'LOC105379107', 'score': 0.25}, {'connected_gene': 'NUDT12', 'score': 0.22}]
chr5 GH05I103623 103623962 103625026 0.7 [{'connected_gene': 'LOC105379107', 'score': 0.25}, {'connected_gene': 'NUDT12', 'score': 0.21}]
chr5 GH05I103646 103646237 103648252 0.58 [{'connected_gene': 'LOC105379107', 'score': 0.34}, {'connected_gene': 'NUDT12', 'score': 0.18}]
chr5 GH05I103542 103542833 103542960 0.24 [{'connected_gene': 'LINC02115', 'score': 550.77}, {'connected_gene': 'C5orf30', 'score': 6.26}, {'connected_gene': 'NUDT12', 'score': 0.37}]