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
ENST00000232003 [[186383740, 186384003], [186386723, 186386840], [186387726, 186387817], [186389411, 186389578], [186390575, 186390656], [186392877, 186392979], [186394835, 186396029]] [[186383820, 186384003], [186386723, 186386840], [186387726, 186387817], [186389411, 186389578], [186390575, 186390656], [186392877, 186392979], [186394835, 186395672]]
ENST00000468154 [[186378004, 186378356], [186382880, 186383002], [186383862, 186383970]] None
ENST00000495413 [[186386766, 186386840], [186387375, 186387817], [186389411, 186389578], [186390575, 186392979], [186394835, 186396020]] None
NM_000412 [[186383740, 186384003], [186386723, 186386840], [186387726, 186387817], [186389411, 186389578], [186390575, 186390656], [186392877, 186392979], [186394835, 186396029]] [[186383820, 186384003], [186386723, 186386840], [186387726, 186387817], [186389411, 186389578], [186390575, 186390656], [186392877, 186392979], [186394835, 186395672]]
Promoter
Chrom Start End Description
chr3 186383792 186383809 CAGE_peak_1_at_HRG_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I187011 187011398 187014167 1.14 [{'connected_gene': 'ADIPOQ', 'score': 10.94}, {'connected_gene': 'ST6GAL1', 'score': 9.94}, {'connected_gene': 'HRG', 'score': 9.16}, {'connected_gene': 'GC03P186997', 'score': 0.37}, {'connected_gene': 'GC03P186996', 'score': 0.37}, {'connected_gene': 'PIR46786', 'score': 0.21}]
chr3 GH03I187014 187014653 187014802 0.4 [{'connected_gene': 'ADIPOQ', 'score': 10.94}, {'connected_gene': 'HRG', 'score': 9.16}, {'connected_gene': 'GC03P186997', 'score': 0.37}, {'connected_gene': 'GC03P186996', 'score': 0.37}, {'connected_gene': 'PIR46786', 'score': 0.21}, {'connected_gene': 'ST6GAL1', 'score': 0.18}]
chr3 GH03I187015 187015399 187018191 1.2 [{'connected_gene': 'ADIPOQ', 'score': 11.13}, {'connected_gene': 'ADIPOQ-AS1', 'score': 10.8}, {'connected_gene': 'ST6GAL1', 'score': 10.58}, {'connected_gene': 'HRG', 'score': 9.16}, {'connected_gene': 'GC03P186997', 'score': 0.34}, {'connected_gene': 'GC03P186996', 'score': 0.34}, {'connected_gene': 'PIR46786', 'score': 0.21}]
chr3 GH03I186757 186757010 186758517 0.52 [{'connected_gene': 'KNG1', 'score': 11.43}, {'connected_gene': 'ENSG00000200418', 'score': 11.11}, {'connected_gene': 'SNORA63', 'score': 11.11}, {'connected_gene': 'EIF4A2', 'score': 11.11}, {'connected_gene': 'SNORA81', 'score': 11.11}, {'connected_gene': 'RFC4', 'score': 11.05}, {'connected_gene': 'FETUB', 'score': 10.61}, {'connected_gene': 'AHSG', 'score': 10.41}, {'connected_gene': 'ENSG00000231724', 'score': 10.29}, {'connected_gene': 'HRG', 'score': 10.21}, {'connected_gene': 'PSMD10P2', 'score': 0.77}, {'connected_gene': 'LOC105374259', 'score': 0.77}, {'connected_gene': 'LOC105374258', 'score': 0.37}]
chr3 GH03I186663 186663332 186665281 0.49 [{'connected_gene': 'KNG1', 'score': 10.22}, {'connected_gene': 'FETUB', 'score': 10.14}, {'connected_gene': 'AHSG', 'score': 10.13}, {'connected_gene': 'HRG', 'score': 0.77}, {'connected_gene': 'LOC100533663', 'score': 0.34}, {'connected_gene': 'LOC105374258', 'score': 0.14}]
chr3 GH03I186682 186682468 186683690 0.64 [{'connected_gene': 'KNG1', 'score': 11.12}, {'connected_gene': 'FETUB', 'score': 10.26}, {'connected_gene': 'LOC100533663', 'score': 0.77}, {'connected_gene': 'HRG', 'score': 0.34}, {'connected_gene': 'LOC105374258', 'score': 0.17}]
chr3 GH03I186665 186665941 186666000 1.05 [{'connected_gene': 'HRG', 'score': 550.44}, {'connected_gene': 'LOC100533663', 'score': 0.34}, {'connected_gene': 'LOC105374258', 'score': 0.14}]
chr3 GH03I186760 186760076 186761770 0.73 [{'connected_gene': 'PSMD10P2', 'score': 550.77}, {'connected_gene': 'KNG1', 'score': 11.43}, {'connected_gene': 'EIF4A2', 'score': 11.14}, {'connected_gene': 'ENSG00000200418', 'score': 11.11}, {'connected_gene': 'SNORA63', 'score': 11.11}, {'connected_gene': 'SNORA81', 'score': 11.11}, {'connected_gene': 'RFC4', 'score': 11.05}, {'connected_gene': 'ENSG00000231724', 'score': 10.29}, {'connected_gene': 'HRG', 'score': 10.2}, {'connected_gene': 'GPS2P2', 'score': 7.55}, {'connected_gene': 'LOC105374259', 'score': 0.44}, {'connected_gene': 'RNU6-1105P', 'score': 0.39}, {'connected_gene': 'LOC105374258', 'score': 0.39}, {'connected_gene': 'GC03M186772', 'score': 0.39}]
chr3 GH03I186593 186593409 186595286 0.76 [{'connected_gene': 'FETUB', 'score': 10.4}, {'connected_gene': 'KNG1', 'score': 10.35}, {'connected_gene': 'RFC4', 'score': 9.93}, {'connected_gene': 'ENSG00000231724', 'score': 9.8}, {'connected_gene': 'HRG', 'score': 9.75}, {'connected_gene': 'DNAJB11', 'score': 4.76}, {'connected_gene': 'LOC100287402', 'score': 0.77}, {'connected_gene': 'ENSG00000283149', 'score': 0.39}, {'connected_gene': 'LOC105374258', 'score': 0.1}]
chr3 GH03I186597 186597972 186601328 0.93 [{'connected_gene': 'FETUB', 'score': 11.03}, {'connected_gene': 'KNG1', 'score': 10.32}, {'connected_gene': 'HRG', 'score': 10.25}, {'connected_gene': 'ENSG00000283390', 'score': 0.77}, {'connected_gene': 'AHSG', 'score': 0.39}, {'connected_gene': 'LOC105374258', 'score': 0.09}]
chr3 GH03I186669 186669161 186670460 0.69 [{'connected_gene': 'FETUB', 'score': 11.35}, {'connected_gene': 'KNG1', 'score': 11.2}, {'connected_gene': 'AHSG', 'score': 10.15}, {'connected_gene': 'HRG', 'score': 0.44}, {'connected_gene': 'LOC100533663', 'score': 0.37}, {'connected_gene': 'LOC105374258', 'score': 0.15}]
chr3 GH03I186640 186640006 186641105 1.09 [{'connected_gene': 'FETUB', 'score': 567.29}, {'connected_gene': 'HRG', 'score': 0.37}, {'connected_gene': 'LOC105374258', 'score': 0.12}]
chr3 GH03I186588 186588296 186591531 1.07 [{'connected_gene': 'AHSG', 'score': 12.3}, {'connected_gene': 'SNORD2', 'score': 10.75}, {'connected_gene': 'EIF4A2', 'score': 10.75}, {'connected_gene': 'ENSG00000200418', 'score': 10.75}, {'connected_gene': 'SNORA63', 'score': 10.75}, {'connected_gene': 'SNORA81', 'score': 10.75}, {'connected_gene': 'RFC4', 'score': 10.4}, {'connected_gene': 'ENSG00000231724', 'score': 10.4}, {'connected_gene': 'FETUB', 'score': 10.38}, {'connected_gene': 'KNG1', 'score': 10.35}, {'connected_gene': 'HRG', 'score': 10.04}, {'connected_gene': 'DNAJB11', 'score': 5.51}, {'connected_gene': 'CRYGS', 'score': 5.07}, {'connected_gene': 'LOC100287402', 'score': 0.44}, {'connected_gene': 'ENSG00000283149', 'score': 0.44}, {'connected_gene': 'LOC105374258', 'score': 0.09}]
chr3 GH03I186653 186653883 186655003 0.49 [{'connected_gene': 'AHSG', 'score': 10.83}, {'connected_gene': 'KNG1', 'score': 10.39}, {'connected_gene': 'HRG', 'score': 0.44}, {'connected_gene': 'FETUB', 'score': 0.37}, {'connected_gene': 'LOC105374258', 'score': 0.13}]
chr3 GH03I186652 186652883 186653816 0.59 [{'connected_gene': 'AHSG', 'score': 10.83}, {'connected_gene': 'KNG1', 'score': 10.39}, {'connected_gene': 'HRG', 'score': 0.44}, {'connected_gene': 'FETUB', 'score': 0.37}, {'connected_gene': 'LOC105374258', 'score': 0.13}]
chr3 GH03I186752 186752212 186756063 1.12 [{'connected_gene': 'LOC105374259', 'score': 550.77}, {'connected_gene': 'KNG1', 'score': 10.98}, {'connected_gene': 'EIF4A2', 'score': 10.98}, {'connected_gene': 'ENSG00000200418', 'score': 10.96}, {'connected_gene': 'SNORA63', 'score': 10.96}, {'connected_gene': 'SNORA81', 'score': 10.96}, {'connected_gene': 'RFC4', 'score': 10.69}, {'connected_gene': 'FETUB', 'score': 10.61}, {'connected_gene': 'ENSG00000231724', 'score': 10.17}, {'connected_gene': 'AHSG', 'score': 9.94}, {'connected_gene': 'HRG', 'score': 9.72}, {'connected_gene': 'PSMD10P2', 'score': 0.44}, {'connected_gene': 'LOC105374258', 'score': 0.37}]
chr3 GH03I186024 186024109 186024925 0.4 [{'connected_gene': 'ETV5-AS1', 'score': 10.68}, {'connected_gene': 'ETV5', 'score': 10.62}, {'connected_gene': 'KNG1', 'score': 9.95}, {'connected_gene': 'AHSG', 'score': 9.49}, {'connected_gene': 'HRG', 'score': 8.95}, {'connected_gene': 'DNAJB11', 'score': 4.8}, {'connected_gene': 'GC03P186008', 'score': 0.37}, {'connected_gene': 'ENSG00000277118', 'score': 0.23}]
chr3 GH03I186025 186025252 186025401 0.31 [{'connected_gene': 'ETV5-AS1', 'score': 10.68}, {'connected_gene': 'ETV5', 'score': 10.63}, {'connected_gene': 'KNG1', 'score': 9.95}, {'connected_gene': 'AHSG', 'score': 9.49}, {'connected_gene': 'HRG', 'score': 8.95}, {'connected_gene': 'GC03P186008', 'score': 0.37}, {'connected_gene': 'ENSG00000277118', 'score': 0.23}]
chr3 GH03I186021 186021401 186022462 0.54 [{'connected_gene': 'ETV5-AS1', 'score': 10.67}, {'connected_gene': 'ETV5', 'score': 10.62}, {'connected_gene': 'KNG1', 'score': 9.95}, {'connected_gene': 'AHSG', 'score': 9.49}, {'connected_gene': 'HRG', 'score': 8.95}, {'connected_gene': 'GC03P186008', 'score': 0.39}, {'connected_gene': 'ENSG00000277118', 'score': 0.23}]
chr3 GH03I186044 186044238 186045811 0.96 [{'connected_gene': 'ETV5-AS1', 'score': 11.25}, {'connected_gene': 'ETV5', 'score': 11.16}, {'connected_gene': 'HRG', 'score': 9.09}, {'connected_gene': 'ENSG00000277118', 'score': 0.29}, {'connected_gene': 'GC03P186008', 'score': 0.28}]
chr3 GH03I186596 186596801 186597200 0.93 [{'connected_gene': 'LOC100287402', 'score': 550.77}, {'connected_gene': 'ENSG00000283390', 'score': 550.77}, {'connected_gene': 'FETUB', 'score': 10.41}, {'connected_gene': 'KNG1', 'score': 10.35}, {'connected_gene': 'HRG', 'score': 10.26}, {'connected_gene': 'RFC4', 'score': 9.93}, {'connected_gene': 'ENSG00000231724', 'score': 9.8}, {'connected_gene': 'AHSG', 'score': 0.37}, {'connected_gene': 'ENSG00000283149', 'score': 0.37}, {'connected_gene': 'LOC105374258', 'score': 0.1}]
chr3 GH03I185983 185983801 185984000 0.77 [{'connected_gene': 'GC03M185982', 'score': 550.77}, {'connected_gene': 'TRA2B', 'score': 10.99}, {'connected_gene': 'AHSG', 'score': 10.48}, {'connected_gene': 'ETV5-AS1', 'score': 10.17}, {'connected_gene': 'ETV5', 'score': 10.15}, {'connected_gene': 'HRG', 'score': 8.77}, {'connected_gene': 'GC03P186008', 'score': 0.31}]