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
ENST00000394253 [[41757633, 41764461], [41766461, 41766667], [41767567, 41767676], [41771543, 41771748], [41773365, 41774749], [41839301, 41839375], [41861670, 41861898]] [[41764270, 41764461], [41766461, 41766667], [41767567, 41767676], [41771543, 41771748], [41773365, 41774721]]
ENST00000373010 [[41764235, 41764461], [41766612, 41766667], [41767567, 41767676], [41771543, 41771748], [41773365, 41774749], [41839301, 41839375], [41840670, 41840750], [41841820, 41841977], [41854184, 41854284], [41855011, 41855067]] [[41764428, 41764461], [41766612, 41766667], [41767567, 41767676], [41771543, 41771748], [41773365, 41774721]]
ENST00000373006 [[41765382, 41766667], [41767567, 41767676], [41771543, 41771748], [41773365, 41774749], [41839301, 41839375], [41859531, 41859613], [41863061, 41863099]] [[41766414, 41766667], [41767567, 41767676], [41771543, 41771748], [41773365, 41774721]]
ENST00000297229 [[41765383, 41766667], [41767567, 41767676], [41771543, 41771748], [41773365, 41774749], [41839301, 41839381]] [[41766414, 41766667], [41767567, 41767676], [41771543, 41771748], [41773365, 41774721]]
ENST00000437061 [[41774608, 41774749], [41839301, 41839713]] [[41774608, 41774721]]
ENST00000423567 [[41774676, 41774749], [41839301, 41839375], [41859531, 41859613], [41861670, 41862193]] [[41774676, 41774721]]
ENST00000373009 [[41764270, 41764461], [41766461, 41766667], [41767567, 41767676], [41771543, 41771748], [41773365, 41774721]] [[41764270, 41764461], [41766461, 41766667], [41767567, 41767676], [41771543, 41771748], [41773365, 41774721]]
ENST00000448078 [[41764414, 41764461], [41766461, 41766667], [41767567, 41767676], [41773365, 41773483]] [[41767637, 41767676], [41773365, 41773483]]
NM_001286554 [[41757633, 41764461], [41766461, 41766667], [41767567, 41767676], [41771543, 41771748], [41773365, 41774749], [41839301, 41839375]] [[41764270, 41764461], [41766461, 41766667], [41767567, 41767676], [41771543, 41771748], [41773365, 41774721]]
NM_018561 [[41765382, 41766667], [41767567, 41767676], [41771543, 41771748], [41773365, 41774749], [41839301, 41839375], [41859531, 41859613], [41863061, 41863099]] [[41766414, 41766667], [41767567, 41767676], [41771543, 41771748], [41773365, 41774721]]
Promoter
Chrom Start End Description
chr6 41863098 41863120 CAGE_peak_1_at_USP49_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I041766 41766431 41769768 1.23 [{'connected_gene': 'MED20', 'score': 13.96}, {'connected_gene': 'OARD1', 'score': 11.99}, {'connected_gene': 'C6orf132', 'score': 11.59}, {'connected_gene': 'MDFI', 'score': 9.89}, {'connected_gene': 'USP49', 'score': 9.75}, {'connected_gene': 'PGC', 'score': 7.1}, {'connected_gene': 'ENSG00000124593', 'score': 7.09}, {'connected_gene': 'ENSG00000269387', 'score': 0.77}, {'connected_gene': 'PIR31477', 'score': 0.77}]
chr6 GH06I041947 41947264 41947668 0.49 [{'connected_gene': 'MED20', 'score': 28.4}, {'connected_gene': 'RNU6-761P', 'score': 11.53}, {'connected_gene': 'ENSG00000207371', 'score': 11.36}, {'connected_gene': 'BYSL', 'score': 11.32}, {'connected_gene': 'USP49', 'score': 10.85}, {'connected_gene': 'ENSG00000206977', 'score': 10.15}, {'connected_gene': 'LOC105375060', 'score': 0.25}, {'connected_gene': 'CCND3', 'score': 0.15}]
chr6 GH06I041934 41934232 41943178 2.59 [{'connected_gene': 'CCND3', 'score': 557.58}, {'connected_gene': 'ENSG00000124593', 'score': 69.78}, {'connected_gene': 'USP49', 'score': 22.81}, {'connected_gene': 'FRS3', 'score': 21.26}, {'connected_gene': 'MED20', 'score': 18.9}, {'connected_gene': 'UBR2', 'score': 14.16}, {'connected_gene': 'BICRAL', 'score': 12.47}, {'connected_gene': 'ENSG00000207371', 'score': 12.07}, {'connected_gene': 'BYSL', 'score': 12.03}, {'connected_gene': 'RNU6-761P', 'score': 11.75}, {'connected_gene': 'RPL7L1', 'score': 11.12}, {'connected_gene': 'PRICKLE4', 'score': 10.84}, {'connected_gene': 'TOMM6', 'score': 10.71}, {'connected_gene': 'ENSG00000206977', 'score': 10.48}, {'connected_gene': 'TFEB', 'score': 2.82}, {'connected_gene': 'TAF8', 'score': 1.89}, {'connected_gene': 'LOC105375060', 'score': 0.22}]
chr6 GH06I042075 42075623 42075772 0.77 [{'connected_gene': 'CCND3', 'score': 11.95}, {'connected_gene': 'TAF8', 'score': 11.95}, {'connected_gene': 'GUCA1A', 'score': 11.56}, {'connected_gene': 'ENSG00000214732', 'score': 11.56}, {'connected_gene': 'C6orf132', 'score': 10.95}, {'connected_gene': 'GUCA1B', 'score': 10.93}, {'connected_gene': 'USP49', 'score': 10.35}, {'connected_gene': 'MED20', 'score': 9.74}, {'connected_gene': 'ENSG00000207371', 'score': 9.74}, {'connected_gene': 'BYSL', 'score': 9.74}, {'connected_gene': 'ENSG00000206977', 'score': 9.57}, {'connected_gene': 'ENSG00000261068', 'score': 0.37}]
chr6 GH06I042040 42040854 42051803 2.8 [{'connected_gene': 'CCND3', 'score': 561.62}, {'connected_gene': 'TAF8', 'score': 559.04}, {'connected_gene': 'PIR49026', 'score': 550.77}, {'connected_gene': 'ENSG00000124593', 'score': 18.84}, {'connected_gene': 'RNU6-761P', 'score': 11.51}, {'connected_gene': 'ENSG00000207371', 'score': 11.44}, {'connected_gene': 'MED20', 'score': 11.44}, {'connected_gene': 'BYSL', 'score': 11.43}, {'connected_gene': 'FRS3', 'score': 11.27}, {'connected_gene': 'PRICKLE4', 'score': 11.26}, {'connected_gene': 'USP49', 'score': 11.2}, {'connected_gene': 'TOMM6', 'score': 10.98}, {'connected_gene': 'ENSG00000206977', 'score': 10.3}, {'connected_gene': 'GNMT', 'score': 5.56}, {'connected_gene': 'TRERF1', 'score': 2.67}, {'connected_gene': 'TFEB', 'score': 2.15}]
chr6 GH06I041198 41198315 41204545 1.82 [{'connected_gene': 'TREML2', 'score': 550.77}, {'connected_gene': 'TREML4', 'score': 42.38}, {'connected_gene': 'TREML3P', 'score': 20.13}, {'connected_gene': 'TREM2', 'score': 11.58}, {'connected_gene': 'USP49', 'score': 11.29}, {'connected_gene': 'ADCY10P1', 'score': 10.9}, {'connected_gene': 'NFYA', 'score': 10.5}, {'connected_gene': 'TREML5P', 'score': 8.17}, {'connected_gene': 'TREML1', 'score': 5.43}, {'connected_gene': 'ENSG00000218809', 'score': 5.04}]
chr6 GH06I041738 41738829 41743681 1.06 [{'connected_gene': 'TFEB', 'score': 8.55}, {'connected_gene': 'ENSG00000124593', 'score': 7.55}, {'connected_gene': 'USP49', 'score': 5.82}, {'connected_gene': 'PGC', 'score': 0.39}]
chr6 GH06I041278 41278799 41279600 1.64 [{'connected_gene': 'TREM1', 'score': 17.99}, {'connected_gene': 'USP49', 'score': 11.29}, {'connected_gene': 'NFYA', 'score': 7.56}, {'connected_gene': 'TFEB', 'score': 6.88}, {'connected_gene': 'TREML2', 'score': 4.62}, {'connected_gene': 'TREML4', 'score': 1.94}, {'connected_gene': 'GC06M041280', 'score': 0.77}, {'connected_gene': 'ENSG00000218809', 'score': 0.44}]
chr6 GH06I041894 41894217 41896885 2.03 [{'connected_gene': 'USP49', 'score': 562.84}, {'connected_gene': 'MED20', 'score': 16.56}, {'connected_gene': 'BYSL', 'score': 0.39}]
chr6 GH06I041965 41965119 41968167 1.36 [{'connected_gene': 'USP49', 'score': 15.75}, {'connected_gene': 'MED20', 'score': 14.84}, {'connected_gene': 'RNU6-761P', 'score': 10.98}, {'connected_gene': 'ENSG00000207371', 'score': 10.33}, {'connected_gene': 'BYSL', 'score': 10.3}, {'connected_gene': 'ENSG00000206977', 'score': 9.76}, {'connected_gene': 'ENSG00000124593', 'score': 4.92}, {'connected_gene': 'FRS3', 'score': 4.47}, {'connected_gene': 'LOC105375060', 'score': 0.29}, {'connected_gene': 'CCND3', 'score': 0.18}]
chr6 GH06I041871 41871580 41871639 0.5 [{'connected_gene': 'USP49', 'score': 561.75}, {'connected_gene': 'BYSL', 'score': 10.65}, {'connected_gene': 'ENSG00000207371', 'score': 10.62}, {'connected_gene': 'MED20', 'score': 10.62}, {'connected_gene': 'ENSG00000206977', 'score': 10.56}, {'connected_gene': 'GUCA1A', 'score': 10.38}, {'connected_gene': 'ENSG00000214732', 'score': 10.38}, {'connected_gene': 'ENSG00000227516', 'score': 0.77}]
chr6 GH06I041902 41902283 41902412 0.7 [{'connected_gene': 'USP49', 'score': 0.44}, {'connected_gene': 'BYSL', 'score': 0.44}]
chr6 GH06I042034 42034449 42035832 0.38 [{'connected_gene': 'USP49', 'score': 11.47}, {'connected_gene': 'PRICKLE4', 'score': 11.36}, {'connected_gene': 'ENSG00000124593', 'score': 11.36}, {'connected_gene': 'FRS3', 'score': 11.36}, {'connected_gene': 'TOMM6', 'score': 10.75}, {'connected_gene': 'MED20', 'score': 10.41}, {'connected_gene': 'BYSL', 'score': 10.41}, {'connected_gene': 'ENSG00000207371', 'score': 10.41}, {'connected_gene': 'ENSG00000206977', 'score': 10.28}, {'connected_gene': 'GUCA1A', 'score': 9.91}, {'connected_gene': 'ENSG00000214732', 'score': 9.91}, {'connected_gene': 'ENSG00000223946', 'score': 0.44}, {'connected_gene': 'PIR49026', 'score': 0.44}, {'connected_gene': 'CCND3', 'score': 0.37}]
chr6 GH06I042031 42031996 42033311 0.38 [{'connected_gene': 'USP49', 'score': 11.47}, {'connected_gene': 'PRICKLE4', 'score': 11.36}, {'connected_gene': 'ENSG00000124593', 'score': 11.36}, {'connected_gene': 'FRS3', 'score': 11.36}, {'connected_gene': 'TOMM6', 'score': 10.75}, {'connected_gene': 'MED20', 'score': 10.41}, {'connected_gene': 'ENSG00000207371', 'score': 10.41}, {'connected_gene': 'BYSL', 'score': 10.4}, {'connected_gene': 'ENSG00000206977', 'score': 10.28}, {'connected_gene': 'GUCA1A', 'score': 9.91}, {'connected_gene': 'ENSG00000214732', 'score': 9.91}, {'connected_gene': 'ENSG00000223946', 'score': 0.77}, {'connected_gene': 'PIR49026', 'score': 0.39}, {'connected_gene': 'CCND3', 'score': 0.37}]
chr6 GH06I042036 42036378 42037133 0.31 [{'connected_gene': 'USP49', 'score': 11.46}, {'connected_gene': 'PRICKLE4', 'score': 11.36}, {'connected_gene': 'ENSG00000124593', 'score': 11.36}, {'connected_gene': 'FRS3', 'score': 11.36}, {'connected_gene': 'TOMM6', 'score': 10.75}, {'connected_gene': 'BYSL', 'score': 10.41}, {'connected_gene': 'ENSG00000207371', 'score': 10.41}, {'connected_gene': 'MED20', 'score': 10.41}, {'connected_gene': 'ENSG00000206977', 'score': 10.28}, {'connected_gene': 'GUCA1A', 'score': 9.91}, {'connected_gene': 'ENSG00000214732', 'score': 9.91}, {'connected_gene': 'ENSG00000223946', 'score': 0.44}, {'connected_gene': 'PIR49026', 'score': 0.44}, {'connected_gene': 'CCND3', 'score': 0.39}]
chr6 GH06I041448 41448449 41452667 1.35 [{'connected_gene': 'USP49', 'score': 11.31}, {'connected_gene': 'FOXP4-AS1', 'score': 10.91}, {'connected_gene': 'FOXP4', 'score': 10.91}, {'connected_gene': 'FRS3', 'score': 9.88}, {'connected_gene': 'GC06M041477', 'score': 0.31}, {'connected_gene': 'ENSG00000280371', 'score': 0.26}]
chr6 GH06I042004 42004756 42005487 0.2 [{'connected_gene': 'TAF8', 'score': 11.23}, {'connected_gene': 'CCND3', 'score': 11.23}, {'connected_gene': 'MED20', 'score': 10.99}, {'connected_gene': 'ENSG00000207371', 'score': 10.98}, {'connected_gene': 'BYSL', 'score': 10.97}, {'connected_gene': 'USP49', 'score': 10.53}, {'connected_gene': 'ENSG00000206977', 'score': 10.12}, {'connected_gene': 'LOC105375060', 'score': 0.44}, {'connected_gene': 'LOC105375059', 'score': 0.44}]
chr6 GH06I042001 42001214 42001956 0.2 [{'connected_gene': 'TAF8', 'score': 11.23}, {'connected_gene': 'CCND3', 'score': 11.23}, {'connected_gene': 'ENSG00000207371', 'score': 10.99}, {'connected_gene': 'MED20', 'score': 10.99}, {'connected_gene': 'BYSL', 'score': 10.97}, {'connected_gene': 'USP49', 'score': 10.53}, {'connected_gene': 'ENSG00000206977', 'score': 10.12}, {'connected_gene': 'LOC105375060', 'score': 0.77}, {'connected_gene': 'LOC105375059', 'score': 0.39}]
chr6 GH06I041784 41784103 41788801 2.11 [{'connected_gene': 'FRS3', 'score': 572.98}, {'connected_gene': 'TOMM6', 'score': 550.77}, {'connected_gene': 'ENSG00000124593', 'score': 64.98}, {'connected_gene': 'MED20', 'score': 32.97}, {'connected_gene': 'USP49', 'score': 12.0}, {'connected_gene': 'BICRAL', 'score': 10.98}, {'connected_gene': 'BYSL', 'score': 10.88}, {'connected_gene': 'ENSG00000207371', 'score': 10.87}, {'connected_gene': 'PGC', 'score': 5.7}, {'connected_gene': 'PRICKLE4', 'score': 0.44}]
chr6 GH06I041961 41961803 41961952 1.11 [{'connected_gene': 'RNU6-761P', 'score': 10.69}, {'connected_gene': 'ENSG00000206977', 'score': 10.01}, {'connected_gene': 'USP49', 'score': 5.19}, {'connected_gene': 'LOC105375060', 'score': 0.28}, {'connected_gene': 'MED20', 'score': 0.26}, {'connected_gene': 'CCND3', 'score': 0.17}]
chr6 GH06I041996 41996432 41998297 0.66 [{'connected_gene': 'LOC105375060', 'score': 550.77}, {'connected_gene': 'GUCA1A', 'score': 55.79}, {'connected_gene': 'RNU6-761P', 'score': 11.85}, {'connected_gene': 'ENSG00000207371', 'score': 10.71}, {'connected_gene': 'MED20', 'score': 10.71}, {'connected_gene': 'BYSL', 'score': 10.7}, {'connected_gene': 'USP49', 'score': 10.45}, {'connected_gene': 'ENSG00000206977', 'score': 10.12}, {'connected_gene': 'LOC105375059', 'score': 0.37}, {'connected_gene': 'CCND3', 'score': 0.23}]
chr6 GH06I042012 42012729 42013713 0.51 [{'connected_gene': 'LOC105375059', 'score': 550.77}, {'connected_gene': 'ENSG00000124593', 'score': 16.35}, {'connected_gene': 'USP49', 'score': 10.76}, {'connected_gene': 'MED20', 'score': 10.18}, {'connected_gene': 'ENSG00000207371', 'score': 10.17}, {'connected_gene': 'BYSL', 'score': 10.16}, {'connected_gene': 'ENSG00000206977', 'score': 9.61}, {'connected_gene': 'LOC105375060', 'score': 0.37}, {'connected_gene': 'CCND3', 'score': 0.28}]
chr6 GH06I041878 41878533 41879792 0.54 [{'connected_gene': 'ENSG00000124593', 'score': 62.76}, {'connected_gene': 'MED20', 'score': 28.63}, {'connected_gene': 'BYSL', 'score': 11.25}, {'connected_gene': 'ENSG00000207371', 'score': 11.21}, {'connected_gene': 'ENSG00000206977', 'score': 10.98}, {'connected_gene': 'RNU6-761P', 'score': 10.25}, {'connected_gene': 'ENSG00000227516', 'score': 0.39}, {'connected_gene': 'USP49', 'score': 0.37}]
chr6 GH06I041845 41845460 41847492 1.16 [{'connected_gene': 'ENSG00000124593', 'score': 62.65}, {'connected_gene': 'MED20', 'score': 28.32}, {'connected_gene': 'USP49', 'score': 16.02}, {'connected_gene': 'CCND3', 'score': 11.34}, {'connected_gene': 'TAF8', 'score': 11.34}, {'connected_gene': 'BYSL', 'score': 11.02}, {'connected_gene': 'ENSG00000207371', 'score': 11.0}, {'connected_gene': 'RNU6-761P', 'score': 9.91}, {'connected_gene': 'ENSG00000206977', 'score': 0.39}, {'connected_gene': 'ENSG00000227516', 'score': 0.34}]
chr6 GH06I042020 42020994 42029799 1.74 [{'connected_gene': 'ENSG00000124593', 'score': 24.26}, {'connected_gene': 'MED20', 'score': 15.8}, {'connected_gene': 'UBR2', 'score': 14.16}, {'connected_gene': 'CCND3', 'score': 12.62}, {'connected_gene': 'TAF8', 'score': 12.59}, {'connected_gene': 'BICRAL', 'score': 12.47}, {'connected_gene': 'USP49', 'score': 11.47}, {'connected_gene': 'PRICKLE4', 'score': 11.36}, {'connected_gene': 'FRS3', 'score': 11.36}, {'connected_gene': 'ENSG00000207371', 'score': 11.05}, {'connected_gene': 'BYSL', 'score': 11.03}, {'connected_gene': 'TOMM6', 'score': 10.75}, {'connected_gene': 'RRP36', 'score': 10.74}, {'connected_gene': 'ENSG00000206977', 'score': 10.28}, {'connected_gene': 'GUCA1A', 'score': 10.11}, {'connected_gene': 'ENSG00000214732', 'score': 10.1}, {'connected_gene': 'RPL24P4', 'score': 9.77}, {'connected_gene': 'TFEB', 'score': 1.55}, {'connected_gene': 'ENSG00000223946', 'score': 0.77}, {'connected_gene': 'GC06P042246', 'score': 0.77}]
chr6 GH06I042029 42029854 42031849 1.34 [{'connected_gene': 'ENSG00000223946', 'score': 550.77}, {'connected_gene': 'ENSG00000124593', 'score': 25.23}, {'connected_gene': 'USP49', 'score': 11.47}, {'connected_gene': 'FRS3', 'score': 11.36}, {'connected_gene': 'PRICKLE4', 'score': 11.36}, {'connected_gene': 'TOMM6', 'score': 10.75}, {'connected_gene': 'MED20', 'score': 10.42}, {'connected_gene': 'ENSG00000207371', 'score': 10.41}, {'connected_gene': 'BYSL', 'score': 10.4}, {'connected_gene': 'ENSG00000206977', 'score': 10.28}, {'connected_gene': 'GUCA1A', 'score': 9.91}, {'connected_gene': 'ENSG00000214732', 'score': 9.91}, {'connected_gene': 'PIR49026', 'score': 0.39}, {'connected_gene': 'CCND3', 'score': 0.37}]
chr6 GH06I041825 41825243 41825412 0.59 [{'connected_gene': 'GC06P042062', 'score': 0.44}, {'connected_gene': 'PIR43865', 'score': 0.31}, {'connected_gene': 'USP49', 'score': 0.19}]
chr6 GH06I042006 42006922 42012180 1.31 [{'connected_gene': 'ENSG00000124593', 'score': 16.11}, {'connected_gene': 'UBR2', 'score': 14.16}, {'connected_gene': 'BICRAL', 'score': 12.47}, {'connected_gene': 'CCND3', 'score': 11.25}, {'connected_gene': 'TAF8', 'score': 11.25}, {'connected_gene': 'MED20', 'score': 10.98}, {'connected_gene': 'ENSG00000207371', 'score': 10.97}, {'connected_gene': 'BYSL', 'score': 10.96}, {'connected_gene': 'USP49', 'score': 10.77}, {'connected_gene': 'ENSG00000206977', 'score': 10.12}, {'connected_gene': 'RPL24P4', 'score': 9.77}, {'connected_gene': 'LOC105375059', 'score': 0.77}, {'connected_gene': 'LOC105375060', 'score': 0.39}]
chr6 GH06I042038 42038074 42040200 1.24 [{'connected_gene': 'ENSG00000124593', 'score': 21.68}, {'connected_gene': 'RNU6-761P', 'score': 11.54}, {'connected_gene': 'MED20', 'score': 11.44}, {'connected_gene': 'ENSG00000207371', 'score': 11.44}, {'connected_gene': 'BYSL', 'score': 11.43}, {'connected_gene': 'PRICKLE4', 'score': 11.27}, {'connected_gene': 'FRS3', 'score': 11.27}, {'connected_gene': 'USP49', 'score': 11.25}, {'connected_gene': 'TOMM6', 'score': 10.98}, {'connected_gene': 'ENSG00000206977', 'score': 10.34}, {'connected_gene': 'ENSG00000223946', 'score': 0.44}, {'connected_gene': 'PIR49026', 'score': 0.44}, {'connected_gene': 'CCND3', 'score': 0.39}]

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