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
ENST00000282344 [[27640292, 27643521], [27645207, 27645286], [27649327, 27649525], [27664019, 27664103], [27664218, 27664295], [27669737, 27669967], [27679867, 27680081], [27690652, 27690733], [27745728, 27746033]] [[27643419, 27643521], [27645207, 27645286], [27649327, 27649525], [27664019, 27664103], [27664218, 27664295], [27669737, 27669967], [27679867, 27680081], [27690652, 27690733], [27745728, 27745776]]
NM_182488 [[27640286, 27643521], [27645207, 27645286], [27649327, 27649525], [27664019, 27664103], [27664218, 27664295], [27669737, 27669967], [27679867, 27680081], [27690652, 27690733], [27745728, 27746033]] [[27643419, 27643521], [27645207, 27645286], [27649327, 27649525], [27664019, 27664103], [27664218, 27664295], [27669737, 27669967], [27679867, 27680081], [27690652, 27690733], [27745728, 27745776]]
Promoter
Chrom Start End Description
chr13 27745913 27745924 CAGE_peak_2_at_USP12_5end
chr13 27745936 27745961 CAGE_peak_1_at_USP12_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I027137 27137376 27139195 0.93 [{'connected_gene': 'RPL21', 'score': 23.96}, {'connected_gene': 'SNORA27', 'score': 22.2}, {'connected_gene': 'USP12', 'score': 19.92}, {'connected_gene': 'USP12-AS2', 'score': 17.53}, {'connected_gene': 'PAN3', 'score': 13.68}, {'connected_gene': 'SNORD102', 'score': 10.88}, {'connected_gene': 'LINC00412', 'score': 10.32}, {'connected_gene': 'RASL11A', 'score': 9.97}, {'connected_gene': 'USP12-AS1', 'score': 0.39}]
chr13 GH13I027250 27250234 27254322 2.25 [{'connected_gene': 'RPL21', 'score': 550.77}, {'connected_gene': 'GC13M027245', 'score': 550.77}, {'connected_gene': 'LINC02340', 'score': 550.77}, {'connected_gene': 'USP12', 'score': 14.05}, {'connected_gene': 'WASF3', 'score': 13.82}, {'connected_gene': 'PAN3', 'score': 12.72}, {'connected_gene': 'SNORA27', 'score': 12.12}, {'connected_gene': 'MTIF3', 'score': 4.61}, {'connected_gene': 'PIR55933', 'score': 0.77}]
chr13 GH13I027130 27130002 27133253 1.35 [{'connected_gene': 'RASL11A', 'score': 10.67}, {'connected_gene': 'USP12', 'score': 9.33}, {'connected_gene': 'USP12-AS2', 'score': 5.79}, {'connected_gene': 'USP12-AS1', 'score': 0.44}]
chr13 GH13I027129 27129344 27129601 0.58 [{'connected_gene': 'RASL11A', 'score': 10.66}, {'connected_gene': 'USP12-AS1', 'score': 0.77}, {'connected_gene': 'USP12', 'score': 0.26}]
chr13 GH13I027151 27151489 27152745 0.7 [{'connected_gene': 'PAN3', 'score': 11.15}, {'connected_gene': 'RASL11A', 'score': 5.12}, {'connected_gene': 'USP12', 'score': 0.37}, {'connected_gene': 'USP12-AS1', 'score': 0.31}]
chr13 GH13I026981 26981502 26985800 1.8 [{'connected_gene': 'MTIF3', 'score': 6.09}, {'connected_gene': 'RASL11A', 'score': 5.43}, {'connected_gene': 'USP12', 'score': 2.59}, {'connected_gene': 'RPL21', 'score': 1.18}, {'connected_gene': 'RPS21P8', 'score': 0.44}, {'connected_gene': 'ENSG00000283579', 'score': 0.44}]
chr13 GH13I027194 27194087 27196522 1.07 [{'connected_gene': 'USP12', 'score': 14.22}, {'connected_gene': 'RASL11A', 'score': 11.51}, {'connected_gene': 'LINC00412', 'score': 11.47}, {'connected_gene': 'SNORD102', 'score': 10.79}, {'connected_gene': 'RPL21', 'score': 10.79}, {'connected_gene': 'SNORA27', 'score': 10.78}, {'connected_gene': 'MTIF3', 'score': 4.87}, {'connected_gene': 'PIR56248', 'score': 0.34}, {'connected_gene': 'USP12-AS2', 'score': 0.34}, {'connected_gene': 'LINC02340', 'score': 0.22}]
chr13 GH13I027146 27146901 27148430 0.64 [{'connected_gene': 'USP12', 'score': 8.74}, {'connected_gene': 'RASL11A', 'score': 4.95}, {'connected_gene': 'USP12-AS1', 'score': 0.34}]
chr13 GH13I027182 27182144 27184187 1.15 [{'connected_gene': 'USP12', 'score': 15.61}, {'connected_gene': 'LINC00412', 'score': 11.69}, {'connected_gene': 'RPL21', 'score': 11.23}, {'connected_gene': 'SNORD102', 'score': 11.22}, {'connected_gene': 'SNORA27', 'score': 11.22}, {'connected_gene': 'RASL11A', 'score': 10.66}, {'connected_gene': 'MTIF3', 'score': 4.75}, {'connected_gene': 'USP12-AS2', 'score': 0.39}, {'connected_gene': 'PIR56248', 'score': 0.29}, {'connected_gene': 'LINC02340', 'score': 0.2}]
chr13 GH13I027174 27174561 27175354 0.77 [{'connected_gene': 'USP12', 'score': 20.6}, {'connected_gene': 'LINC00412', 'score': 11.67}, {'connected_gene': 'RPL21', 'score': 11.24}, {'connected_gene': 'SNORD102', 'score': 11.24}, {'connected_gene': 'SNORA27', 'score': 11.24}, {'connected_gene': 'RASL11A', 'score': 10.98}, {'connected_gene': 'USP12-AS2', 'score': 0.77}, {'connected_gene': 'PIR56248', 'score': 0.26}]
chr13 GH13I027259 27259343 27261673 1.1 [{'connected_gene': 'USP12', 'score': 11.74}, {'connected_gene': 'LINC00412', 'score': 10.57}, {'connected_gene': 'RNU6-70P', 'score': 10.29}, {'connected_gene': 'GC13P027267', 'score': 0.77}, {'connected_gene': 'RASL11A', 'score': 0.44}]
chr13 GH13I027167 27167768 27173637 1.98 [{'connected_gene': 'USP12', 'score': 557.41}, {'connected_gene': 'USP12-AS2', 'score': 550.77}, {'connected_gene': 'SNORA27', 'score': 16.41}, {'connected_gene': 'SNORD102', 'score': 11.71}, {'connected_gene': 'RPL21', 'score': 11.71}, {'connected_gene': 'RASL11A', 'score': 10.98}, {'connected_gene': 'LINC00412', 'score': 10.49}, {'connected_gene': 'USP12-AS1', 'score': 0.25}]
chr13 GH13I027154 27154684 27155018 0.35 [{'connected_gene': 'RNU6-70P', 'score': 10.11}, {'connected_gene': 'RPL21', 'score': 10.09}, {'connected_gene': 'SNORA27', 'score': 10.09}, {'connected_gene': 'SNORD102', 'score': 10.09}, {'connected_gene': 'USP12', 'score': 3.51}, {'connected_gene': 'USP12-AS1', 'score': 0.31}]
chr13 GH13I027055 27055664 27055813 0.58 [{'connected_gene': 'LOC105370124', 'score': 550.77}, {'connected_gene': 'RASL11A', 'score': 10.74}, {'connected_gene': 'USP12', 'score': 7.09}, {'connected_gene': 'GC13P027043', 'score': 0.39}]
chr13 GH13I027056 27055915 27056366 0.58 [{'connected_gene': 'LOC105370124', 'score': 550.77}, {'connected_gene': 'RASL11A', 'score': 10.74}, {'connected_gene': 'USP12', 'score': 5.92}, {'connected_gene': 'GC13P027068', 'score': 0.39}]
chr13 GH13I027053 27053364 27055591 1.12 [{'connected_gene': 'LOC105370124', 'score': 550.77}, {'connected_gene': 'RASL11A', 'score': 15.94}, {'connected_gene': 'LINC00412', 'score': 10.47}, {'connected_gene': 'RPL21', 'score': 10.47}, {'connected_gene': 'SNORD102', 'score': 10.47}, {'connected_gene': 'SNORA27', 'score': 10.47}, {'connected_gene': 'USP12', 'score': 5.39}, {'connected_gene': 'GC13P027043', 'score': 0.39}]
chr13 GH13I027121 27121000 27121201 0.38 [{'connected_gene': 'LINC00412', 'score': 10.13}, {'connected_gene': 'USP12', 'score': 8.44}, {'connected_gene': 'USP12-AS1', 'score': 0.77}, {'connected_gene': 'RBBP8P2', 'score': 0.26}]
chr13 GH13I027135 27134801 27135200 0.49 [{'connected_gene': 'USP12-AS2', 'score': 11.55}, {'connected_gene': 'USP12', 'score': 11.55}, {'connected_gene': 'RPL21', 'score': 10.88}, {'connected_gene': 'SNORA27', 'score': 10.88}, {'connected_gene': 'SNORD102', 'score': 10.88}, {'connected_gene': 'LINC00412', 'score': 10.31}, {'connected_gene': 'USP12-AS1', 'score': 0.44}]
chr13 GH13I027134 27134001 27134400 0.38 [{'connected_gene': 'USP12-AS2', 'score': 11.55}, {'connected_gene': 'USP12', 'score': 11.55}, {'connected_gene': 'RPL21', 'score': 10.88}, {'connected_gene': 'SNORA27', 'score': 10.88}, {'connected_gene': 'SNORD102', 'score': 10.88}, {'connected_gene': 'LINC00412', 'score': 10.31}, {'connected_gene': 'USP12-AS1', 'score': 0.44}]
chr13 GH13I027139 27139664 27139813 0.31 [{'connected_gene': 'USP12-AS1', 'score': 0.39}, {'connected_gene': 'USP12', 'score': 0.29}]
chr13 GH13I027124 27124597 27126697 0.92 [{'connected_gene': 'USP12-AS1', 'score': 550.77}, {'connected_gene': 'LINC00412', 'score': 10.14}, {'connected_gene': 'USP12', 'score': 0.25}]
chr13 GH13I027078 27078759 27080893 0.66 [{'connected_gene': 'USP12-AS1', 'score': 11.0}, {'connected_gene': 'USP12-AS2', 'score': 10.99}, {'connected_gene': 'USP12', 'score': 10.99}, {'connected_gene': 'SNORA27', 'score': 10.65}, {'connected_gene': 'SNORD102', 'score': 10.65}, {'connected_gene': 'RPL21', 'score': 10.65}, {'connected_gene': 'LINC00412', 'score': 9.89}, {'connected_gene': 'RBBP8P2', 'score': 0.77}]