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
ENST00000360394 [[231468479, 231473578]] [[231471313, 231473491]]
ENST00000366645 [[231468498, 231473598]] [[231471313, 231473479]]
NM_175876 [[231468476, 231473618]] [[231471313, 231473491]]
Promoter
Chrom Start End Description
chr1 231473578 231473619 CAGE_peak_1_at_EXOC8_5end
chr1 231473624 231473639 CAGE_peak_2_at_EXOC8_5end
chr1 231473640 231473651 CAGE_peak_3_at_EXOC8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I231357 231357495 231358413 1.24 [{'connected_gene': 'SPRTN', 'score': 18.51}, {'connected_gene': 'EXOC8', 'score': 10.7}, {'connected_gene': 'DISC1', 'score': 10.38}, {'connected_gene': 'PIR59803', 'score': 0.44}]
chr1 GH01I231333 231333800 231341097 2.29 [{'connected_gene': 'SPRTN', 'score': 567.65}, {'connected_gene': 'EXOC8', 'score': 550.77}, {'connected_gene': 'PIR33664', 'score': 550.77}, {'connected_gene': 'C1orf131', 'score': 12.82}, {'connected_gene': 'LINC00582', 'score': 10.38}, {'connected_gene': 'EGLN1', 'score': 10.16}, {'connected_gene': 'DISC1', 'score': 10.04}, {'connected_gene': 'GC01P231312', 'score': 0.31}]
chr1 GH01I230976 230976824 230980430 2.31 [{'connected_gene': 'TTC13', 'score': 564.67}, {'connected_gene': 'ARV1', 'score': 560.28}, {'connected_gene': 'C1orf131', 'score': 12.59}, {'connected_gene': 'EXOC8', 'score': 6.17}, {'connected_gene': 'FAM89A', 'score': 5.84}, {'connected_gene': 'LOC101927604', 'score': 4.32}, {'connected_gene': 'SPRTN', 'score': 2.76}, {'connected_gene': 'GC01P230904', 'score': 0.19}]
chr1 GH01I231527 231527091 231531007 2.42 [{'connected_gene': 'TSNAX', 'score': 557.03}, {'connected_gene': 'TSNAX-DISC1', 'score': 550.77}, {'connected_gene': 'ENSG00000233461', 'score': 550.77}, {'connected_gene': 'C1orf131', 'score': 15.79}, {'connected_gene': 'COG2', 'score': 10.83}, {'connected_gene': 'DISC1', 'score': 6.11}, {'connected_gene': 'GNPAT', 'score': 5.53}, {'connected_gene': 'EXOC8', 'score': 4.66}, {'connected_gene': 'SPRTN', 'score': 1.98}, {'connected_gene': 'GC01P231515', 'score': 0.39}, {'connected_gene': 'GC01P231590', 'score': 0.21}, {'connected_gene': 'GC01P231591', 'score': 0.21}]
chr1 GH01I231393 231393211 231397206 1.34 [{'connected_gene': 'EGLN1', 'score': 20.43}, {'connected_gene': 'SPRTN', 'score': 18.67}, {'connected_gene': 'C1orf131', 'score': 15.83}, {'connected_gene': 'COG2', 'score': 10.84}, {'connected_gene': 'EXOC8', 'score': 10.4}, {'connected_gene': 'GNPAT', 'score': 4.84}, {'connected_gene': 'PIR59803', 'score': 0.31}]
chr1 GH01I231351 231351223 231352878 0.51 [{'connected_gene': 'EGLN1', 'score': 19.67}, {'connected_gene': 'LINC00582', 'score': 10.63}, {'connected_gene': 'DISC1', 'score': 10.3}, {'connected_gene': 'SPRTN', 'score': 9.06}, {'connected_gene': 'PIR59803', 'score': 0.39}, {'connected_gene': 'EXOC8', 'score': 0.39}, {'connected_gene': 'GC01P231312', 'score': 0.28}]
chr1 GH01I231663 231663001 231663719 0.72 [{'connected_gene': 'DISC1', 'score': 20.27}, {'connected_gene': 'EXOC8', 'score': 1.25}, {'connected_gene': 'RNU5A-5P', 'score': 0.44}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.12}]
chr1 GH01I231803 231803097 231804233 0.89 [{'connected_gene': 'DISC1', 'score': 11.9}, {'connected_gene': 'EXOC8', 'score': 1.2}, {'connected_gene': 'ENSG00000274121', 'score': 0.39}, {'connected_gene': 'GC01P231693', 'score': 0.14}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.06}]
chr1 GH01I231808 231808215 231809824 0.99 [{'connected_gene': 'DISC1', 'score': 4.68}, {'connected_gene': 'EXOC8', 'score': 1.3}, {'connected_gene': 'ENSG00000274121', 'score': 0.44}, {'connected_gene': 'GC01P231693', 'score': 0.13}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.06}]
chr1 GH01I231359 231359235 231359364 0.46 [{'connected_gene': 'EXOC8', 'score': 10.7}, {'connected_gene': 'SPRTN', 'score': 10.7}, {'connected_gene': 'DISC1', 'score': 10.38}, {'connected_gene': 'PIR59803', 'score': 0.44}]
chr1 GH01I231493 231493115 231493960 0.9 [{'connected_gene': 'EXOC8', 'score': 1.47}, {'connected_gene': 'GC01M231493', 'score': 0.77}, {'connected_gene': 'SNRPD2P2', 'score': 0.37}]