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
ENST00000537256 [[87635440, 87635536], [87677863, 87678641], [87717747, 87717872], [87723251, 87724132], [87730185, 87730408], [87731445, 87731533]] None
ENST00000284262 [[87636510, 87637134], [87677863, 87678641], [87717747, 87717872], [87723251, 87724132], [87730185, 87731762]] [[87636752, 87637134], [87677863, 87678641], [87717747, 87717872], [87723251, 87724132], [87730185, 87730266]]
ENST00000563609 [[87687167, 87688621], [87717747, 87717872], [87723251, 87724132], [87730185, 87731748]] None
ENST00000301008 [[87636492, 87637134], [87637845, 87638233]] None
NR_073379 [[87635440, 87635536], [87677863, 87678641], [87717747, 87717872], [87723251, 87724132], [87730185, 87730408], [87731445, 87731762]] None
NM_020655 [[87636492, 87637134], [87677863, 87678641], [87717747, 87717872], [87723251, 87724132], [87730185, 87731762]] [[87636752, 87637134], [87677863, 87678641], [87717747, 87717872], [87723251, 87724132], [87730185, 87730266]]
NM_001271604 [[87636492, 87637134], [87637845, 87638254]] [[87636752, 87637134], [87637845, 87638024]]
NM_001271605 [[87636492, 87637134], [87637694, 87638254]] [[87636752, 87637134], [87637694, 87637765]]
Promoter
Chrom Start End Description
chr16 87636085 87636144 CAGE_peak_1_at_JPH3_5end
chr16 87636146 87636190 CAGE_peak_2_at_JPH3_5end
chr16 87636474 87636533 CAGE_peak_3_at_JPH3_5end
chr16 87636569 87636577 CAGE_peak_6_at_JPH3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I087550 87550475 87550624 0.76 [{'connected_gene': 'JPH3', 'score': 11.64}, {'connected_gene': 'FBXO31', 'score': 4.73}, {'connected_gene': 'PIR35253', 'score': 0.29}]
chr16 GH16I087576 87576315 87576504 0.38 [{'connected_gene': 'JPH3', 'score': 12.13}, {'connected_gene': 'KLHDC4', 'score': 11.0}, {'connected_gene': 'MAP1LC3B', 'score': 5.67}, {'connected_gene': 'PIR35253', 'score': 0.22}]
chr16 GH16I087574 87574841 87576049 0.67 [{'connected_gene': 'JPH3', 'score': 12.13}, {'connected_gene': 'KLHDC4', 'score': 11.0}, {'connected_gene': 'PIR35253', 'score': 0.22}]
chr16 GH16I087507 87507084 87508200 0.67 [{'connected_gene': 'JPH3', 'score': 11.54}, {'connected_gene': 'LOC100129215', 'score': 10.61}, {'connected_gene': 'PIR35253', 'score': 0.39}, {'connected_gene': 'LOC101928737', 'score': 0.37}]
chr16 GH16I087570 87570441 87572513 0.98 [{'connected_gene': 'JPH3', 'score': 0.29}, {'connected_gene': 'PIR35253', 'score': 0.23}]
chr16 GH16I087681 87681781 87682611 0.49 [{'connected_gene': 'KLHDC4', 'score': 11.45}, {'connected_gene': 'ENSG00000277504', 'score': 0.77}, {'connected_gene': 'PIR44736', 'score': 0.31}, {'connected_gene': 'JPH3', 'score': 0.18}]
chr16 GH16I087588 87588875 87589024 0.72 [{'connected_gene': 'KLHDC4', 'score': 10.74}, {'connected_gene': 'JPH3', 'score': 0.39}, {'connected_gene': 'PIR35253', 'score': 0.2}]
chr16 GH16I087661 87661600 87661824 1.05 [{'connected_gene': 'KLHDC4', 'score': 5.24}, {'connected_gene': 'PIR44736', 'score': 0.44}, {'connected_gene': 'ENSG00000277504', 'score': 0.34}, {'connected_gene': 'JPH3', 'score': 0.22}]
chr16 GH16I087722 87722645 87726084 1.39 [{'connected_gene': 'KLHDC4', 'score': 26.61}, {'connected_gene': 'ENSG00000260671', 'score': 16.02}, {'connected_gene': 'LOC100129215', 'score': 12.28}, {'connected_gene': 'ENSG00000260121', 'score': 11.41}, {'connected_gene': 'ZC3H18', 'score': 10.46}, {'connected_gene': 'C16orf95', 'score': 5.48}, {'connected_gene': 'ENSG00000260466', 'score': 5.01}, {'connected_gene': 'JPH3', 'score': 2.41}, {'connected_gene': 'FBXO31', 'score': 1.36}, {'connected_gene': 'ZCCHC14', 'score': 1.18}, {'connected_gene': 'LOC105371397', 'score': 0.34}]
chr16 GH16I087697 87697663 87699175 0.56 [{'connected_gene': 'KLHDC4', 'score': 9.09}, {'connected_gene': 'LOC100129215', 'score': 0.77}, {'connected_gene': 'LOC105371397', 'score': 0.77}, {'connected_gene': 'JPH3', 'score': 0.15}]
chr16 GH16I087540 87540345 87542264 1.16 [{'connected_gene': 'ZCCHC14', 'score': 6.2}, {'connected_gene': 'JPH3', 'score': 4.02}, {'connected_gene': 'C16orf95', 'score': 3.69}, {'connected_gene': 'PIR35253', 'score': 0.34}]
chr16 GH16I087580 87580895 87584509 1.11 [{'connected_gene': 'ZC3H18', 'score': 34.22}, {'connected_gene': 'LOC101928659', 'score': 18.26}, {'connected_gene': 'BANP', 'score': 17.8}, {'connected_gene': 'ZCCHC14', 'score': 11.98}, {'connected_gene': 'KLHDC4', 'score': 10.11}, {'connected_gene': 'JPH3', 'score': 0.37}, {'connected_gene': 'PIR35253', 'score': 0.21}]
chr16 GH16I087524 87524101 87529741 0.97 [{'connected_gene': 'LOC101928659', 'score': 28.56}, {'connected_gene': 'MTHFSD', 'score': 20.26}, {'connected_gene': 'PIR35253', 'score': 0.44}, {'connected_gene': 'JPH3', 'score': 0.19}]
chr16 GH16I087635 87635027 87637145 1.12 [{'connected_gene': 'LOC101928659', 'score': 9.82}, {'connected_gene': 'LOC100128882', 'score': 4.55}, {'connected_gene': 'PIR44736', 'score': 0.37}, {'connected_gene': 'ENSG00000269935', 'score': 0.29}, {'connected_gene': 'JPH3', 'score': 0.29}]
chr16 GH16I087620 87620115 87620464 0.31 [{'connected_gene': 'LOC100129215', 'score': 10.4}, {'connected_gene': 'ENSG00000269935', 'score': 0.37}, {'connected_gene': 'JPH3', 'score': 0.37}, {'connected_gene': 'PIR44736', 'score': 0.29}]
chr16 GH16I087554 87554667 87557810 0.99 [{'connected_gene': 'PIR35253', 'score': 0.28}, {'connected_gene': 'JPH3', 'score': 0.25}]
chr16 GH16I087608 87608515 87608664 0.87 [{'connected_gene': 'ENSG00000269935', 'score': 0.44}, {'connected_gene': 'JPH3', 'score': 0.44}, {'connected_gene': 'PIR44736', 'score': 0.25}]
chr16 GH16I087601 87601110 87605223 1.46 [{'connected_gene': 'ENSG00000269935', 'score': 550.77}, {'connected_gene': 'JPH3', 'score': 550.77}, {'connected_gene': 'PIR44736', 'score': 0.23}]
chr16 GH16I087657 87657735 87657924 0.67 [{'connected_gene': 'PIR44736', 'score': 0.77}, {'connected_gene': 'ENSG00000277504', 'score': 0.31}, {'connected_gene': 'JPH3', 'score': 0.22}]
chr16 GH16I087560 87560564 87561644 0.74 [{'connected_gene': 'PIR35253', 'score': 0.26}, {'connected_gene': 'JPH3', 'score': 0.26}]
chr16 GH16I087535 87535882 87537095 0.71 [{'connected_gene': 'ENSG00000131152', 'score': 10.13}, {'connected_gene': 'C16orf95', 'score': 10.12}, {'connected_gene': 'PIR35253', 'score': 0.37}, {'connected_gene': 'JPH3', 'score': 0.2}]
chr16 GH16I087538 87538323 87539251 0.43 [{'connected_gene': 'ENSG00000131152', 'score': 10.04}, {'connected_gene': 'C16orf95', 'score': 10.04}, {'connected_gene': 'PIR35253', 'score': 0.37}, {'connected_gene': 'JPH3', 'score': 0.21}]