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
ENST00000472493 [[76854191, 76854636], [76855332, 76855553], [76857469, 76857643], [76859186, 76859264]] [[76854433, 76854636], [76855332, 76855553]]
ENST00000372702 [[76854191, 76854636], [76855332, 76855553], [76857469, 76857643], [76861624, 76861719], [76863651, 76863855], [76865418, 76865626], [76867749, 76867967], [76868766, 76868979]] [[76865426, 76865626], [76867749, 76867967], [76868766, 76868915]]
ENST00000491677 [[76854192, 76854636], [76855332, 76855553], [76857469, 76857643], [76861624, 76861719], [76863651, 76863855], [76865418, 76865626], [76867749, 76867967], [76868766, 76868970]] [[76854433, 76854636], [76855332, 76855553], [76857469, 76857643], [76861624, 76861719], [76863651, 76863855], [76865418, 76865505]]
ENST00000607131 [[76854192, 76854636], [76855332, 76855553], [76857469, 76857643], [76861624, 76861719], [76863651, 76863855], [76868766, 76868970]] [[76854433, 76854636], [76855332, 76855553], [76857469, 76857643], [76861624, 76861719], [76863651, 76863834]]
ENST00000464872 [[76854193, 76854636], [76855485, 76855553], [76857469, 76857642]] [[76854433, 76854636], [76855485, 76855553], [76857469, 76857642]]
ENST00000605915 [[76854193, 76854636], [76855332, 76855553], [76857469, 76857643], [76858788, 76858878], [76859186, 76859273]] [[76854433, 76854636], [76855332, 76855553], [76857469, 76857643], [76858788, 76858853]]
ENST00000478873 [[76854193, 76854636], [76855332, 76855553], [76857469, 76857643], [76858788, 76859285]] [[76854433, 76854636], [76855332, 76855553], [76857469, 76857643], [76858788, 76859195]]
ENST00000308475 [[76854193, 76854636], [76855332, 76855553], [76857469, 76857643], [76861624, 76861719], [76868766, 76868943]] [[76861685, 76861719], [76868766, 76868915]]
ENST00000479884 [[76854196, 76854636], [76855332, 76855553], [76857469, 76857643], [76861624, 76861719], [76863651, 76863855], [76867749, 76867967], [76868766, 76868970]] [[76863721, 76863855], [76867749, 76867967], [76868766, 76868915]]
ENST00000394707 [[76854383, 76854636], [76855332, 76855553], [76857469, 76857643], [76861624, 76861719], [76863651, 76863855], [76868766, 76868948]] [[76863800, 76863855], [76868766, 76868915]]
ENST00000494588 [[76854421, 76854636], [76855332, 76855553], [76857469, 76857643], [76861624, 76861719], [76863651, 76863855], [76867749, 76868041], [76868766, 76868976]] [[76867911, 76868041], [76868766, 76868915]]
ENST00000372700 [[76854433, 76854636], [76855332, 76855553], [76857469, 76857643], [76868766, 76868949]] [[76854433, 76854636], [76855332, 76855553], [76857469, 76857643], [76868766, 76868915]]
ENST00000607487 [[76855480, 76855553], [76857469, 76857643], [76861624, 76861719], [76863750, 76863855], [76865418, 76865626], [76868766, 76868891]] [[76855480, 76855553], [76857469, 76857643], [76861624, 76861719], [76863750, 76863855], [76865418, 76865626], [76868766, 76868891]]
ENST00000607009 [[76857500, 76857643], [76867749, 76867967], [76868766, 76868949]] None
ENST00000473072 [[76861701, 76861719], [76863651, 76863855], [76865418, 76865626], [76868766, 76868964]] [[76861701, 76861719], [76863651, 76863855], [76865418, 76865626], [76868766, 76868915]]
NM_001007271 [[76854189, 76854636], [76855332, 76855553], [76857469, 76857643], [76861624, 76861719], [76863651, 76863855], [76865418, 76865626], [76867749, 76867967], [76868766, 76868970]] [[76865426, 76865626], [76867749, 76867967], [76868766, 76868915]]
NM_001320842 [[76854189, 76854636], [76855332, 76855553], [76857469, 76857643], [76861624, 76861719], [76863651, 76863855], [76867749, 76867967], [76868766, 76868970]] [[76854433, 76854636], [76855332, 76855553], [76857469, 76857643], [76861624, 76861719], [76863651, 76863834]]
NM_001007273 [[76854189, 76854636], [76855332, 76855553], [76857469, 76857643], [76861624, 76861719], [76863651, 76863855], [76868766, 76868970]] [[76854433, 76854636], [76855332, 76855553], [76857469, 76857643], [76861624, 76861719], [76863651, 76863834]]
NM_001320843 [[76854189, 76854636], [76855332, 76855553], [76857469, 76857643], [76861624, 76861719], [76868766, 76868970]] [[76854433, 76854636], [76855332, 76855553]]
NM_001007272 [[76854189, 76854636], [76855332, 76855553], [76857469, 76857643], [76868766, 76868970]] [[76854433, 76854636], [76855332, 76855553], [76857469, 76857643], [76868766, 76868915]]
NM_016364 [[76854191, 76854636], [76855332, 76855553], [76857469, 76857643], [76859186, 76859248]] [[76854433, 76854636], [76855332, 76855553]]
Promoter
Chrom Start End Description
chr10 76859207 76859216 CAGE_peak_6_at_DUSP13_5end
chr10 76859247 76859275 CAGE_peak_3_at_DUSP13_5end
chr10 76868808 76868825 CAGE_peak_5_at_DUSP13_5end
chr10 76868843 76868862 CAGE_peak_2_at_DUSP13_5end
chr10 76868866 76868883 CAGE_peak_4_at_DUSP13_5end
chr10 76868931 76868980 CAGE_peak_1_at_DUSP13_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I075282 75282835 75284791 1.61 [{'connected_gene': 'ZNF503', 'score': 10.86}, {'connected_gene': 'ZNF503-AS2', 'score': 10.86}, {'connected_gene': 'DUSP13', 'score': 7.79}, {'connected_gene': 'ZNF503-AS1', 'score': 7.78}, {'connected_gene': 'DUPD1', 'score': 4.31}, {'connected_gene': 'ENSG00000223428', 'score': 0.77}, {'connected_gene': 'HMGA1P5', 'score': 0.44}, {'connected_gene': 'GC10M075276', 'score': 0.44}, {'connected_gene': 'ENSG00000270087', 'score': 0.13}]
chr10 GH10I075197 75197570 75199104 0.2 [{'connected_gene': 'DUSP13', 'score': 23.34}, {'connected_gene': 'VDAC2', 'score': 0.39}, {'connected_gene': 'PIR38247', 'score': 0.37}]
chr10 GH10I075120 75120870 75122137 0.46 [{'connected_gene': 'DUSP13', 'score': 16.74}, {'connected_gene': 'DUPD1', 'score': 10.36}, {'connected_gene': 'ZNF503-AS1', 'score': 5.22}, {'connected_gene': 'RPS26P42', 'score': 0.77}, {'connected_gene': 'SAMD8', 'score': 0.34}]
chr10 GH10I075070 75070675 75071738 0.69 [{'connected_gene': 'DUSP13', 'score': 16.67}, {'connected_gene': 'DUPD1', 'score': 0.77}, {'connected_gene': 'PIR52628', 'score': 0.34}]
chr10 GH10I075061 75061640 75063424 0.8 [{'connected_gene': 'DUSP13', 'score': 15.71}, {'connected_gene': 'ENSG00000234149', 'score': 10.61}, {'connected_gene': 'ENSG00000227186', 'score': 10.61}, {'connected_gene': 'DUPD1', 'score': 0.39}, {'connected_gene': 'PIR52628', 'score': 0.39}]
chr10 GH10I075351 75351944 75353632 0.64 [{'connected_gene': 'DUSP13', 'score': 7.63}, {'connected_gene': 'ZNF503-AS1', 'score': 4.12}, {'connected_gene': 'GC10M075383', 'score': 0.29}, {'connected_gene': 'GC10P075313', 'score': 0.28}, {'connected_gene': 'ZNF503', 'score': 0.25}, {'connected_gene': 'ENSG00000270087', 'score': 0.25}]
chr10 GH10I075191 75191056 75196971 1.4 [{'connected_gene': 'DUSP13', 'score': 23.46}, {'connected_gene': 'ZNF503-AS1', 'score': 19.31}, {'connected_gene': 'PPIAP13', 'score': 4.67}, {'connected_gene': 'PIR38247', 'score': 0.39}, {'connected_gene': 'VDAC2', 'score': 0.37}, {'connected_gene': 'GC10P075147', 'score': 0.25}]
chr10 GH10I075250 75250379 75252074 0.69 [{'connected_gene': 'DUSP13', 'score': 10.72}, {'connected_gene': 'ZNF503-AS1', 'score': 5.75}, {'connected_gene': 'COMTD1', 'score': 0.37}, {'connected_gene': 'RPL39P25', 'score': 0.37}]
chr10 GH10I075099 75099502 75102310 1.75 [{'connected_gene': 'DUSP13', 'score': 558.8}, {'connected_gene': 'SAMD8', 'score': 550.77}, {'connected_gene': 'ZNF503-AS1', 'score': 18.02}, {'connected_gene': 'KAT6B', 'score': 9.71}, {'connected_gene': 'PPIAP13', 'score': 7.37}, {'connected_gene': 'COMTD1', 'score': 4.94}]
chr10 GH10I075107 75107805 75113254 2.3 [{'connected_gene': 'DUSP13', 'score': 579.51}, {'connected_gene': 'SAMD8', 'score': 550.39}, {'connected_gene': 'KAT6B', 'score': 34.14}, {'connected_gene': 'AP3M1', 'score': 25.46}, {'connected_gene': 'PPIAP13', 'score': 7.16}, {'connected_gene': 'RPS26P42', 'score': 0.39}]
chr10 GH10I075104 75104401 75105400 1 [{'connected_gene': 'DUSP13', 'score': 0.77}, {'connected_gene': 'SAMD8', 'score': 0.44}]
chr10 GH10I075105 75105418 75107032 1.04 [{'connected_gene': 'DUSP13', 'score': 18.98}, {'connected_gene': 'ADK', 'score': 5.14}, {'connected_gene': 'AP3M1', 'score': 4.49}, {'connected_gene': 'SAMD8', 'score': 0.44}]
chr10 GH10I075201 75201462 75203657 1.13 [{'connected_gene': 'DUSP13', 'score': 24.47}, {'connected_gene': 'COMTD1', 'score': 7.58}, {'connected_gene': 'VDAC2', 'score': 0.44}, {'connected_gene': 'PIR38247', 'score': 0.34}]
chr10 GH10I075115 75115400 75115601 1.02 [{'connected_gene': 'DUPD1', 'score': 10.37}, {'connected_gene': 'ENSG00000234149', 'score': 9.35}, {'connected_gene': 'ENSG00000227186', 'score': 9.35}, {'connected_gene': 'RPS26P42', 'score': 0.44}, {'connected_gene': 'DUSP13', 'score': 0.44}, {'connected_gene': 'SAMD8', 'score': 0.37}]
chr10 GH10I075187 75187182 75188844 1.17 [{'connected_gene': 'ZNF503-AS1', 'score': 17.07}, {'connected_gene': 'PPIAP13', 'score': 6.75}, {'connected_gene': 'DUSP13', 'score': 5.97}, {'connected_gene': 'COMTD1', 'score': 5.77}, {'connected_gene': 'PIR38247', 'score': 0.44}, {'connected_gene': 'VDAC2', 'score': 0.34}, {'connected_gene': 'GC10P075147', 'score': 0.26}]
chr10 GH10I075165 75165995 75167959 0.96 [{'connected_gene': 'ZNF503-AS1', 'score': 18.64}, {'connected_gene': 'DUSP13', 'score': 16.57}, {'connected_gene': 'COMTD1', 'score': 5.5}, {'connected_gene': 'PIR38247', 'score': 0.39}, {'connected_gene': 'GC10P075147', 'score': 0.37}, {'connected_gene': 'PIR60449', 'score': 0.37}, {'connected_gene': 'SAMD8', 'score': 0.2}]
chr10 GH10I075214 75214706 75216325 0.38 [{'connected_gene': 'ZNF503-AS1', 'score': 18.44}, {'connected_gene': 'DUPD1', 'score': 9.18}, {'connected_gene': 'COMTD1', 'score': 6.57}, {'connected_gene': 'DUSP13', 'score': 5.93}, {'connected_gene': 'VDAC2', 'score': 0.44}]
chr10 GH10I075293 75293443 75297578 1.84 [{'connected_gene': 'ZNF503-AS1', 'score': 21.73}, {'connected_gene': 'KAT6B', 'score': 10.92}, {'connected_gene': 'DUSP13', 'score': 8.36}, {'connected_gene': 'ENSG00000223428', 'score': 0.44}, {'connected_gene': 'GC10P075313', 'score': 0.37}, {'connected_gene': 'ZNF503', 'score': 0.14}, {'connected_gene': 'ENSG00000270087', 'score': 0.14}]
chr10 GH10I075229 75229601 75232662 1.07 [{'connected_gene': 'ZNF503-AS1', 'score': 18.16}, {'connected_gene': 'COMTD1', 'score': 7.8}, {'connected_gene': 'DUSP13', 'score': 5.92}, {'connected_gene': 'PPIAP13', 'score': 4.35}, {'connected_gene': 'VDAC2', 'score': 0.34}]
chr10 GH10I075243 75243483 75248184 0.98 [{'connected_gene': 'ZNF503-AS1', 'score': 32.59}, {'connected_gene': 'RPL39P25', 'score': 13.46}, {'connected_gene': 'HMGA1P5', 'score': 13.41}, {'connected_gene': 'DUSP13', 'score': 11.42}, {'connected_gene': 'DUPD1', 'score': 9.41}, {'connected_gene': 'COMTD1', 'score': 0.44}]
chr10 GH10I075357 75357649 75360115 1.17 [{'connected_gene': 'KAT6B', 'score': 25.36}, {'connected_gene': 'ZNF503', 'score': 10.94}, {'connected_gene': 'ZNF503-AS2', 'score': 10.94}, {'connected_gene': 'LRMDA', 'score': 9.82}, {'connected_gene': 'ENSG00000236842', 'score': 9.82}, {'connected_gene': 'DUSP13', 'score': 5.48}, {'connected_gene': 'GC10M075383', 'score': 0.34}, {'connected_gene': 'ENSG00000270087', 'score': 0.26}, {'connected_gene': 'GC10P075313', 'score': 0.26}, {'connected_gene': 'ZNF503-AS1', 'score': 0.17}]
chr10 GH10I075232 75232985 75236622 2.27 [{'connected_gene': 'COMTD1', 'score': 557.8}, {'connected_gene': 'DUSP13', 'score': 13.71}, {'connected_gene': 'KAT6B', 'score': 13.31}, {'connected_gene': 'ZNF503-AS1', 'score': 4.81}, {'connected_gene': 'VDAC2', 'score': 0.34}]

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