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
ENST00000529901 [[76060999, 76063838], [76066661, 76070617]] None
ENST00000260045 [[76060999, 76063838], [76066661, 76066698], [76071999, 76072107], [76076895, 76077016], [76091791, 76091986]] [[76061907, 76063838], [76066661, 76066698], [76071999, 76072107], [76076895, 76077016], [76091791, 76091880]]
ENST00000528993 [[76063541, 76063838], [76066661, 76066698], [76071999, 76072107], [76075381, 76075476], [76076895, 76077016], [76091791, 76092015]] [[76075446, 76075476], [76076895, 76077016], [76091791, 76091880]]
ENST00000525277 [[76063668, 76063838], [76066661, 76066698], [76071999, 76072413]] None
ENST00000531878 [[76063740, 76063838], [76066661, 76066698], [76071999, 76072107], [76075381, 76075476], [76076895, 76077016], [76079609, 76079687]] None
NR_130898 [[76060999, 76063838], [76066661, 76066698], [76071999, 76072107], [76075381, 76075476], [76076895, 76077016], [76091791, 76092009]] None
NM_004705 [[76060999, 76063838], [76066661, 76066698], [76071999, 76072107], [76076895, 76077016], [76091791, 76092009]] [[76061907, 76063838], [76066661, 76066698], [76071999, 76072107], [76076895, 76077016], [76091791, 76091880]]
Promoter
Chrom Start End Description
chr11 76092029 76092038 CAGE_peak_4_at_PRKRIR_5end
chr11 76092097 76092183 CAGE_peak_1_at_PRKRIR_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I075820 75820401 75828153 1.47 [{'connected_gene': 'DGAT2', 'score': 22.77}, {'connected_gene': 'ENSG00000254814', 'score': 12.47}, {'connected_gene': 'MOGAT2', 'score': 10.7}, {'connected_gene': 'THAP12', 'score': 5.44}, {'connected_gene': 'UVRAG', 'score': 3.67}, {'connected_gene': 'ARRB1', 'score': 1.43}, {'connected_gene': 'LOC100506113', 'score': 0.44}, {'connected_gene': 'GC11M075836', 'score': 0.39}, {'connected_gene': 'ENSG00000200256', 'score': 0.39}]
chr11 GH11I076330 76330057 76330206 0.2 [{'connected_gene': 'WNT11', 'score': 11.81}, {'connected_gene': 'LOC105369395', 'score': 0.25}, {'connected_gene': 'THAP12', 'score': 0.23}]
chr11 GH11I076329 76329197 76329346 0.8 [{'connected_gene': 'WNT11', 'score': 11.81}, {'connected_gene': 'LOC105369395', 'score': 0.26}, {'connected_gene': 'THAP12', 'score': 0.23}]
chr11 GH11I075812 75812078 75818322 2.29 [{'connected_gene': 'UVRAG', 'score': 550.77}, {'connected_gene': 'LOC100506113', 'score': 550.77}, {'connected_gene': 'XRRA1', 'score': 14.0}, {'connected_gene': 'THAP12', 'score': 10.64}, {'connected_gene': 'NEU3', 'score': 10.07}, {'connected_gene': 'EMSY', 'score': 9.96}, {'connected_gene': 'DGAT2', 'score': 8.02}, {'connected_gene': 'LOC105369391', 'score': 4.81}]
chr11 GH11I076335 76335957 76336106 0.2 [{'connected_gene': 'THAP12', 'score': 0.26}, {'connected_gene': 'LOC105369395', 'score': 0.23}]
chr11 GH11I076379 76379342 76382989 2.05 [{'connected_gene': 'THAP12', 'score': 555.6}, {'connected_gene': 'GVQW3', 'score': 555.24}, {'connected_gene': 'TSKU', 'score': 14.67}, {'connected_gene': 'ENSG00000261578', 'score': 12.5}, {'connected_gene': 'EMSY', 'score': 11.02}, {'connected_gene': 'ENSG00000255363', 'score': 10.78}, {'connected_gene': 'LOC101928837', 'score': 10.71}, {'connected_gene': 'SNORD15B', 'score': 9.87}, {'connected_gene': 'ENSG00000255135', 'score': 5.62}]
chr11 GH11I076860 76860048 76862590 2.02 [{'connected_gene': 'ACER3', 'score': 565.23}, {'connected_gene': 'EMSY', 'score': 50.01}, {'connected_gene': 'ENSG00000271757', 'score': 23.29}, {'connected_gene': 'RSF1', 'score': 20.4}, {'connected_gene': 'ENSG00000272301', 'score': 19.95}, {'connected_gene': 'GVQW3', 'score': 19.24}, {'connected_gene': 'ENSG00000255135', 'score': 13.48}, {'connected_gene': 'THAP12', 'score': 10.14}, {'connected_gene': 'ENSG00000254988', 'score': 7.24}]
chr11 GH11I076368 76368997 76370196 0.4 [{'connected_gene': 'GVQW3', 'score': 7.26}, {'connected_gene': 'ENSG00000255135', 'score': 5.99}, {'connected_gene': 'WNT11', 'score': 4.79}, {'connected_gene': 'THAP12', 'score': 0.39}, {'connected_gene': 'LOC105369395', 'score': 0.17}]
chr11 GH11I076338 76338201 76340461 0.76 [{'connected_gene': 'GVQW3', 'score': 6.37}, {'connected_gene': 'ENSG00000255135', 'score': 5.73}, {'connected_gene': 'THAP12', 'score': 0.26}, {'connected_gene': 'LOC105369395', 'score': 0.23}]
chr11 GH11I076370 76370696 76372000 1 [{'connected_gene': 'ENSG00000255135', 'score': 22.56}, {'connected_gene': 'EMSY', 'score': 10.47}, {'connected_gene': 'GVQW3', 'score': 8.45}, {'connected_gene': 'THAP12', 'score': 0.44}, {'connected_gene': 'LOC105369395', 'score': 0.17}]
chr11 GH11I076318 76318897 76319046 0.76 [{'connected_gene': 'ENSG00000255421', 'score': 10.48}, {'connected_gene': 'LOC105369395', 'score': 0.29}, {'connected_gene': 'THAP12', 'score': 0.21}]
chr11 GH11I076287 76287286 76289162 0.63 [{'connected_gene': 'ENSG00000254826', 'score': 5.86}, {'connected_gene': 'LOC105369395', 'score': 0.77}, {'connected_gene': 'THAP12', 'score': 0.16}]
chr11 GH11I076046 76046993 76049575 0.82 [{'connected_gene': 'ENSG00000255434', 'score': 11.58}, {'connected_gene': 'LOC105369391', 'score': 10.84}, {'connected_gene': 'ENSG00000255421', 'score': 10.75}, {'connected_gene': 'GVQW3', 'score': 10.72}, {'connected_gene': 'THAP12', 'score': 10.67}, {'connected_gene': 'ENSG00000271757', 'score': 10.07}, {'connected_gene': 'EMSY', 'score': 9.98}, {'connected_gene': 'MAP6', 'score': 9.93}, {'connected_gene': 'ENSG00000272301', 'score': 9.73}, {'connected_gene': 'PIR47539', 'score': 0.28}, {'connected_gene': 'UVRAG', 'score': 0.07}]