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
ENST00000534941 [[155480400, 155481707], [155485297, 155485458], [155493489, 155493637], [155520320, 155520380], [155523385, 155523512], [155523927, 155524055]] [[155481305, 155481707], [155485297, 155485458], [155493489, 155493637], [155520320, 155520365]]
ENST00000482061 [[155480405, 155481707], [155485297, 155485458], [155493489, 155493637], [155520320, 155520380], [155523385, 155523512], [155523927, 155524055]] [[155493578, 155493637], [155520320, 155520380], [155523385, 155523512], [155523927, 155524041]]
ENST00000340171 [[155480405, 155481707], [155485297, 155485458], [155493489, 155493637], [155520320, 155520380], [155523927, 155524140]] [[155481305, 155481707], [155485297, 155485458], [155493489, 155493637], [155520320, 155520380], [155523927, 155524041]]
ENST00000465810 [[155481316, 155481707], [155485297, 155485458], [155520320, 155520380], [155523927, 155524048]] [[155485416, 155485458], [155520320, 155520380], [155523927, 155524041]]
ENST00000486435 [[155481575, 155481707], [155485297, 155485458], [155493489, 155493637], [155520320, 155520380], [155521839, 155521962], [155523385, 155523512], [155523927, 155524040]] [[155521855, 155521962], [155523385, 155523512], [155523927, 155524040]]
NM_173657 [[155480400, 155481707], [155485297, 155485458], [155493489, 155493637], [155520320, 155520380], [155523385, 155523512], [155523927, 155524076]] [[155481305, 155481707], [155485297, 155485458], [155493489, 155493637], [155520320, 155520365]]
NM_001308229 [[155480400, 155481707], [155485297, 155485458], [155493489, 155493637], [155520320, 155520380], [155523927, 155524076]] [[155481305, 155481707], [155485297, 155485458], [155493489, 155493637], [155520320, 155520380], [155523927, 155524041]]
Promoter
Chrom Start End Description
chr3 155524049 155524086 CAGE_peak_1_at_C3orf33_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I155850 155850001 155850400 0.38 [{'connected_gene': 'SLC33A1', 'score': 0.77}, {'connected_gene': 'C3orf33', 'score': 0.26}]
chr3 GH03I155849 155849601 155849800 0.31 [{'connected_gene': 'SLC33A1', 'score': 8.59}, {'connected_gene': 'C3orf33', 'score': 0.26}]
chr3 GH03I155888 155888801 155891518 1.1 [{'connected_gene': 'SLC33A1', 'score': 12.09}, {'connected_gene': 'ENSG00000214919', 'score': 10.34}, {'connected_gene': 'PLCH1', 'score': 10.34}, {'connected_gene': 'GMPS', 'score': 6.25}, {'connected_gene': 'C3orf33', 'score': 6.04}, {'connected_gene': 'SETP14', 'score': 0.15}]
chr3 GH03I155851 155851600 155855617 2.14 [{'connected_gene': 'SLC33A1', 'score': 564.72}, {'connected_gene': 'LOC105374174', 'score': 550.77}, {'connected_gene': 'GMPS', 'score': 10.47}, {'connected_gene': 'C3orf33', 'score': 5.02}]
chr3 GH03I155869 155869373 155873196 2.02 [{'connected_gene': 'GMPS', 'score': 556.06}, {'connected_gene': 'C3orf33', 'score': 9.41}, {'connected_gene': 'PLCH1', 'score': 4.1}, {'connected_gene': 'SETP14', 'score': 0.13}]
chr3 GH03I155912 155912320 155913287 0.2 [{'connected_gene': 'C3orf33', 'score': 5.32}, {'connected_gene': 'GMPS', 'score': 0.26}, {'connected_gene': 'SETP14', 'score': 0.19}]
chr3 GH03I155959 155959735 155960797 0.2 [{'connected_gene': 'C3orf33', 'score': 17.03}, {'connected_gene': 'SETP14', 'score': 0.31}, {'connected_gene': 'GMPS', 'score': 0.16}]
chr3 GH03I155990 155990813 155991823 0.2 [{'connected_gene': 'C3orf33', 'score': 10.85}, {'connected_gene': 'VN2R1P', 'score': 10.69}, {'connected_gene': 'KCNAB1', 'score': 10.63}, {'connected_gene': 'GMPS', 'score': 5.79}, {'connected_gene': 'SETP14', 'score': 0.77}]
chr3 GH03I155804 155804492 155806901 2 [{'connected_gene': 'C3orf33', 'score': 559.53}, {'connected_gene': 'PLCH1', 'score': 5.93}, {'connected_gene': 'SLC33A1', 'score': 5.08}, {'connected_gene': 'RPL7AP24', 'score': 0.25}]
chr3 GH03I155747 155747598 155747761 0.38 [{'connected_gene': 'C3orf33', 'score': 11.7}, {'connected_gene': 'PLCH1', 'score': 0.77}, {'connected_gene': 'RPL7AP24', 'score': 0.39}]
chr3 GH03I155748 155747432 155747581 0.31 [{'connected_gene': 'C3orf33', 'score': 11.7}, {'connected_gene': 'PLCH1', 'score': 0.77}, {'connected_gene': 'RPL7AP24', 'score': 0.39}]
chr3 GH03I155743 155743654 155747256 1.87 [{'connected_gene': 'ENSG00000214919', 'score': 550.77}, {'connected_gene': 'PLCH1', 'score': 550.77}, {'connected_gene': 'C3orf33', 'score': 11.69}, {'connected_gene': 'SLC33A1', 'score': 6.03}, {'connected_gene': 'RPL7AP24', 'score': 0.37}]