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
ENST00000475040 [[95780866, 95780948], [95783609, 95783690], [95814629, 95815179]] None
ENST00000272418 [[95752951, 95753326], [95756130, 95756267], [95766218, 95766281], [95766581, 95766639], [95767421, 95767468], [95770384, 95770475], [95772167, 95772202], [95773919, 95774153], [95775660, 95775786], [95780810, 95780948], [95783609, 95783690], [95787478, 95787745]] [[95753101, 95753326], [95756130, 95756267], [95766218, 95766281], [95766581, 95766639], [95767421, 95767468], [95770384, 95770475], [95772167, 95772202], [95773919, 95774153], [95775660, 95775786], [95780810, 95780948], [95783609, 95783690], [95787478, 95787536]]
ENST00000482821 [[95752952, 95753326], [95756130, 95759436]] None
ENST00000345084 [[95752952, 95753326], [95756130, 95756267], [95766218, 95766281], [95766581, 95766639], [95767421, 95767468], [95772167, 95772202], [95773919, 95774153], [95775660, 95775786], [95780810, 95780948], [95783609, 95783690], [95787478, 95787544]] [[95766602, 95766639], [95767421, 95767468], [95772167, 95772202], [95773919, 95774153], [95775660, 95775786], [95780810, 95780948], [95783609, 95783690], [95787478, 95787536]]
ENST00000461916 [[95753068, 95753326], [95756130, 95756267], [95766218, 95766281], [95766581, 95766639], [95767421, 95767698]] None
ENST00000482568 [[95753151, 95753326], [95756130, 95756267], [95766218, 95766281], [95766581, 95766639], [95767421, 95767468], [95772167, 95772398]] None
ENST00000475895 [[95769497, 95770475], [95772167, 95772202], [95773919, 95774153], [95775660, 95775786], [95780810, 95780948], [95783609, 95783690], [95787478, 95787558]] None
ENST00000464458 [[95770093, 95770475], [95772167, 95772433]] None
NM_001321995 [[95751135, 95753326], [95756130, 95756267], [95766218, 95766281], [95766581, 95766639], [95767421, 95767468], [95770384, 95770475], [95772167, 95772202], [95773919, 95774153], [95775660, 95775786], [95780810, 95780948], [95783609, 95783690], [95787187, 95787302]] [[95753101, 95753326], [95756130, 95756267], [95766218, 95766281], [95766581, 95766639], [95767421, 95767468], [95770384, 95770475], [95772167, 95772202], [95773919, 95774153], [95775660, 95775786], [95780810, 95780850]]
NM_001321997 [[95751135, 95753326], [95756130, 95756267], [95766218, 95766281], [95766581, 95766639], [95767421, 95767468], [95770384, 95770475], [95772167, 95772202], [95773998, 95774153], [95775660, 95775786], [95780810, 95780948], [95783609, 95783690], [95787187, 95787302]] [[95753101, 95753326], [95756130, 95756267], [95766218, 95766281], [95766581, 95766639], [95767421, 95767468], [95770384, 95770475], [95772167, 95772202], [95773998, 95774137]]
NM_031902 [[95751135, 95753326], [95756130, 95756267], [95766218, 95766281], [95766581, 95766639], [95767421, 95767468], [95770384, 95770475], [95772167, 95772202], [95773919, 95774153], [95775660, 95775786], [95780810, 95780948], [95783609, 95783690], [95787478, 95787772]] [[95753101, 95753326], [95756130, 95756267], [95766218, 95766281], [95766581, 95766639], [95767421, 95767468], [95770384, 95770475], [95772167, 95772202], [95773919, 95774153], [95775660, 95775786], [95780810, 95780948], [95783609, 95783690], [95787478, 95787536]]
NR_136153 [[95751135, 95753326], [95756130, 95756267], [95766218, 95766281], [95766581, 95766639], [95767421, 95767468], [95772167, 95772202], [95773919, 95774153], [95775660, 95775786], [95780810, 95780948], [95783609, 95783690], [95787478, 95787772]] None
NM_001321996 [[95751135, 95753326], [95756130, 95756267], [95766218, 95766281], [95766581, 95766639], [95767421, 95767468], [95770384, 95770475], [95772167, 95772202], [95773998, 95774153], [95775660, 95775786], [95780810, 95780948], [95783609, 95783690], [95787478, 95787772]] [[95753101, 95753326], [95756130, 95756267], [95766218, 95766281], [95766581, 95766639], [95767421, 95767468], [95770384, 95770475], [95772167, 95772202], [95773998, 95774137]]
NR_136152 [[95751135, 95753326], [95756130, 95756267], [95766218, 95766281], [95766581, 95766639], [95767421, 95767468], [95772167, 95772202], [95773998, 95774153], [95775660, 95775786], [95780810, 95780948], [95783609, 95783690], [95787478, 95787772]] None
Promoter
Chrom Start End Description
chr2 95774146 95774152 CAGE_peak_7_at_MRPS5_5end
chr2 95787533 95787573 CAGE_peak_1_at_MRPS5_5end
chr2 95787677 95787691 CAGE_peak_5_at_MRPS5_5end
chr2 95787697 95787709 CAGE_peak_4_at_MRPS5_5end
chr2 95787716 95787737 CAGE_peak_2_at_MRPS5_5end
chr2 95787738 95787763 CAGE_peak_3_at_MRPS5_5end
chr2 95787766 95787784 CAGE_peak_6_at_MRPS5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I095079 95079081 95080053 0.62 [{'connected_gene': 'ZNF514', 'score': 18.6}, {'connected_gene': 'KCNIP3', 'score': 16.75}, {'connected_gene': 'LOC105373488', 'score': 0.77}, {'connected_gene': 'MRPS5', 'score': 0.2}]
chr2 GH02I095158 95158479 95160629 1.83 [{'connected_gene': 'ZNF514', 'score': 550.44}, {'connected_gene': 'LOC101926959', 'score': 4.03}, {'connected_gene': 'MRPS5', 'score': 0.39}]
chr2 GH02I095120 95120606 95122605 2.05 [{'connected_gene': 'MRPS5', 'score': 550.31}, {'connected_gene': 'ZNF514', 'score': 11.57}, {'connected_gene': 'LOC105373488', 'score': 0.25}]
chr2 GH02I095115 95115456 95115585 0.8 [{'connected_gene': 'TEKT4', 'score': 4.32}, {'connected_gene': 'MRPS5', 'score': 0.29}, {'connected_gene': 'LOC105373488', 'score': 0.26}]
chr2 GH02I095078 95078031 95078505 0.46 [{'connected_gene': 'LOC105373488', 'score': 0.77}, {'connected_gene': 'MRPS5', 'score': 0.19}]
chr2 GH02I095073 95073397 95077787 1.29 [{'connected_gene': 'LOC105373488', 'score': 550.77}, {'connected_gene': 'KCNIP3', 'score': 23.88}, {'connected_gene': 'ENSG00000231062', 'score': 11.79}, {'connected_gene': 'TEKT4', 'score': 4.52}, {'connected_gene': 'MRPS5', 'score': 0.19}]

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