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
ENST00000354619 [[236378854, 236381876], [236384131, 236384265], [236385223, 236385310], [236388369, 236388439], [236389568, 236389815], [236389946, 236390039], [236393523, 236393550], [236396127, 236396139], [236399088, 236399135], [236399577, 236399698], [236406721, 236406795], [236413184, 236413267], [236415349, 236415391], [236416721, 236416805], [236433174, 236433294], [236444981, 236445285]] [[236381815, 236381876], [236384131, 236384265], [236385223, 236385310], [236388369, 236388439], [236389568, 236389815], [236389946, 236390039], [236393523, 236393550], [236396127, 236396139], [236399088, 236399135], [236399577, 236399698], [236406721, 236406795], [236413184, 236413267], [236415349, 236415391], [236416721, 236416805], [236433174, 236433294], [236444981, 236445083]]
ENST00000264181 [[236383472, 236384265], [236385223, 236385310], [236388369, 236388439], [236389568, 236389795]] [[236384127, 236384265], [236385223, 236385310], [236388369, 236388439], [236389568, 236389795]]
ENST00000327333 [[236399284, 236399698], [236413184, 236413267], [236415349, 236415391], [236416721, 236416805], [236433174, 236433294], [236444981, 236445319]] [[236399694, 236399698], [236413184, 236413267], [236415349, 236415391], [236416721, 236416805], [236433174, 236433294], [236444981, 236445083]]
ENST00000366589 [[236399631, 236399698], [236406721, 236406795], [236413184, 236413267], [236415349, 236415391], [236416721, 236416805], [236433174, 236433294], [236444766, 236444901]] [[236399631, 236399698], [236406721, 236406795], [236413184, 236413258]]
NM_019891 [[236378421, 236381876], [236384131, 236384265], [236385223, 236385310], [236388369, 236388439], [236389568, 236389815], [236389946, 236390039], [236393523, 236393550], [236396127, 236396139], [236399088, 236399135], [236399577, 236399698], [236406721, 236406795], [236413184, 236413267], [236415349, 236415391], [236416721, 236416805], [236433174, 236433294], [236444981, 236445339]] [[236381815, 236381876], [236384131, 236384265], [236385223, 236385310], [236388369, 236388439], [236389568, 236389815], [236389946, 236390039], [236393523, 236393550], [236396127, 236396139], [236399088, 236399135], [236399577, 236399698], [236406721, 236406795], [236413184, 236413267], [236415349, 236415391], [236416721, 236416805], [236433174, 236433294], [236444981, 236445083]]
Promoter
Chrom Start End Description
chr1 236445251 236445266 CAGE_peak_1_at_ERO1LB_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I236280 236280532 236282808 2.06 [{'connected_gene': 'ERO1B', 'score': 565.85}, {'connected_gene': 'GGPS1', 'score': 21.21}, {'connected_gene': 'GNG4', 'score': 10.98}, {'connected_gene': 'RNU2-70P', 'score': 0.39}]
chr1 GH01I236251 236251306 236251389 0.24 [{'connected_gene': 'ERO1B', 'score': 11.56}, {'connected_gene': 'GPR137B', 'score': 2.09}, {'connected_gene': 'GC01P236268', 'score': 0.37}]
chr1 GH01I236450 236450881 236451030 0.31 [{'connected_gene': 'ERO1B', 'score': 10.72}, {'connected_gene': 'LGALS8', 'score': 9.98}, {'connected_gene': 'LGALS8-AS1', 'score': 9.79}, {'connected_gene': 'GC01P236477', 'score': 0.31}, {'connected_gene': 'EDARADD', 'score': 0.15}]
chr1 GH01I236333 236333321 236333470 0.64 [{'connected_gene': 'ERO1B', 'score': 8.82}, {'connected_gene': 'EDARADD', 'score': 0.39}, {'connected_gene': 'LOC100130485', 'score': 0.25}]
chr1 GH01I236302 236302001 236302150 0.59 [{'connected_gene': 'ERO1B', 'score': 7.23}, {'connected_gene': 'LOC100130485', 'score': 0.37}, {'connected_gene': 'EDARADD', 'score': 0.25}]
chr1 GH01I236283 236283859 236285071 0.99 [{'connected_gene': 'ERO1B', 'score': 0.77}, {'connected_gene': 'LOC100130485', 'score': 0.77}]
chr1 GH01I236470 236470811 236472535 0.9 [{'connected_gene': 'LGALS8', 'score': 11.38}, {'connected_gene': 'LGALS8-AS1', 'score': 11.0}, {'connected_gene': 'ENSG00000273058', 'score': 10.89}, {'connected_gene': 'ENSG00000230325', 'score': 10.37}, {'connected_gene': 'GPR137B', 'score': 10.25}, {'connected_gene': 'ERO1B', 'score': 10.24}, {'connected_gene': 'GC01P236477', 'score': 0.44}, {'connected_gene': 'EDARADD', 'score': 0.13}]
chr1 GH01I236288 236288068 236289071 0.78 [{'connected_gene': 'LOC100130485', 'score': 550.77}, {'connected_gene': 'LDHAP2', 'score': 10.94}, {'connected_gene': 'GPR137B', 'score': 10.42}, {'connected_gene': 'HEATR1', 'score': 10.39}, {'connected_gene': 'ARID4B', 'score': 10.24}, {'connected_gene': 'LYST', 'score': 10.01}, {'connected_gene': 'ENSG00000230325', 'score': 9.79}, {'connected_gene': 'ERO1B', 'score': 6.97}, {'connected_gene': 'EDARADD', 'score': 0.22}]
chr1 GH01I236228 236228601 236228800 0.2 [{'connected_gene': 'GC01P236268', 'score': 0.28}, {'connected_gene': 'ERO1B', 'score': 0.23}, {'connected_gene': 'GPR137B', 'score': 0.17}]
chr1 GH01I236267 236267764 236267943 0.37 [{'connected_gene': 'GC01P236268', 'score': 550.77}, {'connected_gene': 'RNU2-70P', 'score': 550.77}, {'connected_gene': 'LGALS8', 'score': 2.17}, {'connected_gene': 'ERO1B', 'score': 1.6}]