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
ENST00000302313 [[39093488, 39093564], [39104540, 39104681], [39107301, 39107380], [39108038, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39137879]] [[39093516, 39093564], [39104540, 39104681], [39107301, 39107380], [39108038, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39136234]]
ENST00000423296 [[39093503, 39093564], [39104540, 39104681], [39107301, 39107380], [39108038, 39108121], [39108217, 39108366], [39110261, 39110311]] [[39093516, 39093564], [39104540, 39104681], [39107301, 39107380], [39108038, 39108121], [39108217, 39108271]]
ENST00000418020 [[39093506, 39093564], [39104540, 39104681], [39107301, 39107380], [39108065, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135561], [39136037, 39136039], [39136138, 39136351]] [[39133121, 39133192], [39135364, 39135561], [39136037, 39136039], [39136138, 39136234]]
ENST00000413099 [[39093506, 39093564], [39104540, 39104681], [39108038, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39136569]] [[39093516, 39093564], [39104540, 39104681], [39108038, 39108041]]
ENST00000396258 [[39093506, 39093564], [39104540, 39104681], [39108038, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39137879]] [[39104659, 39104681], [39108038, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39136234]]
ENST00000544962 [[39093506, 39093564], [39116216, 39116441], [39118629, 39118704], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39137879]] [[39093516, 39093564], [39116216, 39116441], [39118629, 39118704], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39136234]]
ENST00000433841 [[39093509, 39093564], [39104540, 39104681], [39107281, 39107380], [39108038, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111181]] [[39093516, 39093564], [39104540, 39104681], [39107281, 39107317]]
ENST00000420940 [[39093510, 39093564], [39104540, 39104681], [39107301, 39107380], [39108038, 39108121], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39136905], [39136971, 39138155]] [[39093516, 39093564], [39104540, 39104681], [39107301, 39107380], [39108038, 39108121], [39110261, 39110273]]
ENST00000441361 [[39093791, 39094092], [39104540, 39104681], [39107301, 39107380], [39108038, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111235], [39116216, 39116240]] [[39107322, 39107380], [39108038, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111235], [39116216, 39116240]]
ENST00000489838 [[39119501, 39119730], [39121201, 39121299], [39125645, 39125678]] None
ENST00000463198 [[39119651, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39127791, 39127875]] None
ENST00000477197 [[39129308, 39129724], [39130721, 39130809], [39133115, 39133185]] None
ENST00000466405 [[39131058, 39133192], [39135364, 39138155]] None
NM_001303402 [[39093476, 39093564], [39104540, 39104681], [39108038, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39138162]] [[39104659, 39104681], [39108038, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39136234]]
NM_001346226 [[39093476, 39093564], [39104540, 39104681], [39107305, 39107380], [39108038, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39138162]] [[39104659, 39104681], [39107305, 39107380], [39108038, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39136234]]
NM_001303403 [[39093476, 39093564], [39104540, 39104681], [39107301, 39107380], [39108065, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39138162]] [[39093516, 39093564], [39104540, 39104681], [39107301, 39107380], [39108065, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39136234]]
NR_144399 [[39093476, 39093564], [39104540, 39104681], [39107301, 39107380], [39108038, 39108121], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39136905], [39136971, 39138162]] None
NM_001346227 [[39093476, 39093564], [39104540, 39104681], [39107301, 39107380], [39108038, 39108121], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39138162]] [[39110305, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39136234]]
NR_144400 [[39093476, 39093564], [39104540, 39104681], [39107301, 39107380], [39108038, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39136905], [39136971, 39138162]] None
NM_020839 [[39093476, 39093564], [39104540, 39104681], [39107301, 39107380], [39108038, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39138162]] [[39093516, 39093564], [39104540, 39104681], [39107301, 39107380], [39108038, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39136234]]
NR_144401 [[39093476, 39093564], [39104540, 39104681], [39107301, 39107380], [39108038, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39127791, 39127875], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39138162]] None
NM_001346225 [[39093476, 39093564], [39104540, 39104681], [39107301, 39107380], [39108038, 39108121], [39108236, 39108366], [39108447, 39108561], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39138162]] [[39093516, 39093564], [39104540, 39104681], [39107301, 39107380], [39108038, 39108121], [39108236, 39108366], [39108447, 39108561], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39136234]]
NM_001346228 [[39093782, 39094092], [39104540, 39104681], [39107301, 39107380], [39108038, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39138162]] [[39107322, 39107380], [39108038, 39108121], [39108236, 39108366], [39110261, 39110350], [39111133, 39111235], [39116216, 39116441], [39118629, 39118704], [39119627, 39119730], [39121201, 39121299], [39125645, 39125753], [39126135, 39126232], [39127005, 39127101], [39129618, 39129724], [39130721, 39130809], [39133115, 39133192], [39135364, 39135557], [39136138, 39136234]]
Promoter
Chrom Start End Description
chr3 39093481 39093520 CAGE_peak_1_at_WDR48_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I038346 38346150 38348133 2.07 [{'connected_gene': 'XYLB', 'score': 555.89}, {'connected_gene': 'OXSR1', 'score': 14.19}, {'connected_gene': 'GORASP1', 'score': 11.11}, {'connected_gene': 'WDR48', 'score': 10.76}, {'connected_gene': 'SCN11A', 'score': 4.07}, {'connected_gene': 'PIR42930', 'score': 0.26}]
chr3 GH03I039266 39266578 39270003 1.36 [{'connected_gene': 'GORASP1', 'score': 16.48}, {'connected_gene': 'CSRNP1', 'score': 15.3}, {'connected_gene': 'XIRP1', 'score': 11.68}, {'connected_gene': 'CCR8', 'score': 10.81}, {'connected_gene': 'HNRNPA1P21', 'score': 10.8}, {'connected_gene': 'TTC21A', 'score': 10.7}, {'connected_gene': 'RPSA', 'score': 8.73}, {'connected_gene': 'WDR48', 'score': 2.46}, {'connected_gene': 'SLC25A38', 'score': 1.96}, {'connected_gene': 'CX3CR1', 'score': 1.54}, {'connected_gene': 'LOC102724104', 'score': 0.28}]
chr3 GH03I039088 39088615 39089679 0.38 [{'connected_gene': 'GORASP1', 'score': 6.76}, {'connected_gene': 'PIR55888', 'score': 0.44}, {'connected_gene': 'GC03M039097', 'score': 0.44}, {'connected_gene': 'WDR48', 'score': 0.28}]
chr3 GH03I039145 39145744 39156449 2.84 [{'connected_gene': 'CSRNP1', 'score': 562.05}, {'connected_gene': 'ENSG00000283849', 'score': 550.77}, {'connected_gene': 'LOC101928263', 'score': 550.77}, {'connected_gene': 'GORASP1', 'score': 52.31}, {'connected_gene': 'TTC21A', 'score': 23.41}, {'connected_gene': 'SNORA62', 'score': 22.39}, {'connected_gene': 'CX3CR1', 'score': 22.21}, {'connected_gene': 'XIRP1', 'score': 11.47}, {'connected_gene': 'MOBP', 'score': 11.35}, {'connected_gene': 'ACVR2B-AS1', 'score': 9.87}, {'connected_gene': 'OXSR1', 'score': 9.69}, {'connected_gene': 'EXOG', 'score': 4.75}, {'connected_gene': 'WDR48', 'score': 1.88}, {'connected_gene': 'ENSG00000284669', 'score': 0.77}]
chr3 GH03I039050 39050812 39053218 2.06 [{'connected_gene': 'WDR48', 'score': 550.77}, {'connected_gene': 'OXSR1', 'score': 16.24}, {'connected_gene': 'TTC21A', 'score': 12.1}, {'connected_gene': 'SNORA62', 'score': 11.05}, {'connected_gene': 'PIR55888', 'score': 0.25}, {'connected_gene': 'GC03M039097', 'score': 0.25}]
chr3 GH03I039361 39361201 39362812 1.36 [{'connected_gene': 'RPSA', 'score': 23.09}, {'connected_gene': 'HNRNPA1P21', 'score': 19.54}, {'connected_gene': 'CCR8', 'score': 15.48}, {'connected_gene': 'SNORA6', 'score': 10.65}, {'connected_gene': 'CX3CR1', 'score': 10.41}, {'connected_gene': 'XIRP1', 'score': 4.76}, {'connected_gene': 'SLC25A38', 'score': 3.42}, {'connected_gene': 'WDR48', 'score': 1.34}, {'connected_gene': 'EEF1A1P24', 'score': 0.77}, {'connected_gene': 'GC03P039372', 'score': 0.44}, {'connected_gene': 'LOC105377644', 'score': 0.34}]
chr3 GH03I039334 39334229 39334442 0.23 [{'connected_gene': 'HNRNPA1P21', 'score': 550.77}, {'connected_gene': 'GC03P039335', 'score': 550.77}, {'connected_gene': 'CCR8', 'score': 4.83}, {'connected_gene': 'RPSA', 'score': 3.84}, {'connected_gene': 'SLC25A38', 'score': 2.57}, {'connected_gene': 'WDR48', 'score': 1.37}]
chr3 GH03I039808 39808750 39809899 1.8 [{'connected_gene': 'MYRIP', 'score': 557.36}, {'connected_gene': 'TTC21A', 'score': 10.66}, {'connected_gene': 'WDR48', 'score': 10.5}, {'connected_gene': 'GORASP1', 'score': 9.97}, {'connected_gene': 'GC03M039810', 'score': 0.37}]
chr3 GH03I039271 39271026 39274400 1.06 [{'connected_gene': 'XIRP1', 'score': 11.81}, {'connected_gene': 'TTC21A', 'score': 10.76}, {'connected_gene': 'GORASP1', 'score': 10.75}, {'connected_gene': 'CCR8', 'score': 10.15}, {'connected_gene': 'HNRNPA1P21', 'score': 10.14}, {'connected_gene': 'RNU6-1227P', 'score': 8.73}, {'connected_gene': 'RPSA', 'score': 6.47}, {'connected_gene': 'CSRNP1', 'score': 5.41}, {'connected_gene': 'SCN10A', 'score': 1.51}, {'connected_gene': 'WDR48', 'score': 1.37}, {'connected_gene': 'CX3CR1', 'score': 0.44}, {'connected_gene': 'LOC102724104', 'score': 0.26}]
chr3 GH03I039326 39326909 39328548 0.92 [{'connected_gene': 'CCR8', 'score': 556.81}, {'connected_gene': 'RPSA', 'score': 10.42}, {'connected_gene': 'HNRNPA1P21', 'score': 5.66}, {'connected_gene': 'CSRNP1', 'score': 4.49}, {'connected_gene': 'SLC25A38', 'score': 3.57}, {'connected_gene': 'WDR48', 'score': 1.96}, {'connected_gene': 'ADAD1P1', 'score': 0.26}]
chr3 GH03I039065 39065201 39065439 0.72 [{'connected_gene': 'RNU6-1227P', 'score': 11.14}, {'connected_gene': 'CX3CR1', 'score': 9.82}, {'connected_gene': 'WDR48', 'score': 0.39}, {'connected_gene': 'PIR55888', 'score': 0.29}, {'connected_gene': 'GC03M039097', 'score': 0.29}]
chr3 GH03I039095 39095950 39098251 0.46 [{'connected_gene': 'PIR55888', 'score': 550.77}, {'connected_gene': 'GC03M039097', 'score': 550.77}, {'connected_gene': 'TTC21A', 'score': 12.14}, {'connected_gene': 'GORASP1', 'score': 6.79}, {'connected_gene': 'WDR48', 'score': 0.25}]

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