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
ENST00000473371 [[39612442, 39613425], [39613700, 39615954]] None
ENST00000470258 [[39612447, 39612602], [39613272, 39613425], [39613700, 39613848], [39616241, 39616442], [39618226, 39618318], [39621176, 39621289], [39621810, 39624246]] [[39618231, 39618318], [39621176, 39621289], [39621810, 39622063]]
ENST00000379600 [[39612454, 39612860], [39613272, 39613425], [39613700, 39613848], [39616241, 39616442], [39618226, 39618318], [39621176, 39621289], [39621810, 39624246]] [[39612776, 39612860], [39613272, 39613425], [39613700, 39613848], [39616241, 39616442], [39618226, 39618318], [39621176, 39621289], [39621810, 39622063]]
ENST00000379599 [[39612527, 39612860], [39613272, 39613425], [39613700, 39613848], [39618226, 39618318], [39621176, 39621289], [39621810, 39624246]] [[39612776, 39612860], [39613272, 39613425], [39613700, 39613848], [39618226, 39618318], [39621176, 39621289], [39621810, 39622063]]
ENST00000485407 [[39616194, 39616442], [39618226, 39618601]] None
NR_073109 [[39612447, 39612602], [39613272, 39613425], [39613700, 39613848], [39616241, 39616442], [39618226, 39618318], [39621176, 39621289], [39621810, 39624246]] None
NM_001017370 [[39612447, 39612860], [39613272, 39613425], [39613700, 39613848], [39618226, 39618318], [39621176, 39621289], [39621810, 39624246]] [[39612776, 39612860], [39613272, 39613425], [39613700, 39613848], [39618226, 39618318], [39621176, 39621289], [39621810, 39622063]]
NM_001012754 [[39612447, 39612860], [39613272, 39613425], [39613700, 39613848], [39616241, 39616442], [39618226, 39618318], [39621176, 39621289], [39621810, 39624246]] [[39612776, 39612860], [39613272, 39613425], [39613700, 39613848], [39616241, 39616442], [39618226, 39618318], [39621176, 39621289], [39621810, 39622063]]
Promoter
Chrom Start End Description
chr13 39612442 39612482 CAGE_peak_2_at_NHLRC3_5end
chr13 39612485 39612599 CAGE_peak_1_at_NHLRC3_5end
chr13 39612603 39612624 CAGE_peak_3_at_NHLRC3_5end
chr13 39612722 39612775 CAGE_peak_4_at_NHLRC3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I038979 38979566 38981651 0.59 [{'connected_gene': 'PROSER1', 'score': 10.52}, {'connected_gene': 'NHLRC3', 'score': 10.52}, {'connected_gene': 'STOML3', 'score': 6.34}, {'connected_gene': 'LHFPL6', 'score': 4.63}, {'connected_gene': 'GC13M038977', 'score': 0.34}, {'connected_gene': 'GC13P038946', 'score': 0.29}]
chr13 GH13I039035 39035481 39041266 2.07 [{'connected_gene': 'PROSER1', 'score': 582.33}, {'connected_gene': 'NHLRC3', 'score': 572.14}, {'connected_gene': 'LHFPL6', 'score': 14.9}, {'connected_gene': 'STOML3', 'score': 5.96}, {'connected_gene': 'LOC105370169', 'score': 0.39}]
chr13 GH13I039385 39385320 39386537 0.84 [{'connected_gene': 'NHLRC3', 'score': 14.99}, {'connected_gene': 'COG6', 'score': 9.97}, {'connected_gene': 'GC13M039383', 'score': 0.77}, {'connected_gene': 'GC13M039390', 'score': 0.44}, {'connected_gene': 'LHFPL6', 'score': 0.08}]
chr13 GH13I039765 39765864 39766402 0.94 [{'connected_gene': 'NHLRC3', 'score': 10.89}, {'connected_gene': 'GC13P039785', 'score': 0.37}, {'connected_gene': 'GC13P039748', 'score': 0.37}, {'connected_gene': 'COG6', 'score': 0.14}]
chr13 GH13I039047 39047684 39047833 0.31 [{'connected_gene': 'LOC105370169', 'score': 0.44}, {'connected_gene': 'NHLRC3', 'score': 0.44}]

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