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
ENST00000232458 [[172468471, 172468647], [172472298, 172472450], [172473084, 172473164], [172474772, 172474955], [172476769, 172476859], [172477945, 172478053], [172479399, 172479473], [172480205, 172480336], [172480480, 172480596], [172480699, 172480762], [172482067, 172482290], [172486796, 172486933], [172491692, 172491812], [172499952, 172500021], [172501588, 172501699], [172502496, 172502593], [172504282, 172504364], [172520405, 172520484], [172520650, 172520770], [172523520, 172523659], [172525559, 172525714], [172533393, 172533501], [172534480, 172534627], [172537937, 172539264]] [[172472320, 172472450], [172473084, 172473164], [172474772, 172474955], [172476769, 172476859], [172477945, 172478053], [172479399, 172479473], [172480205, 172480336], [172480480, 172480596], [172480699, 172480762], [172482067, 172482290], [172486796, 172486933], [172491692, 172491812], [172499952, 172500021], [172501588, 172501699], [172502496, 172502593], [172504282, 172504364], [172520405, 172520484], [172520650, 172520770], [172523520, 172523659], [172525559, 172525714], [172533393, 172533501], [172534480, 172534627], [172537937, 172538027]]
ENST00000392692 [[172468493, 172468647], [172472298, 172472450], [172473084, 172473164], [172473272, 172473365], [172474772, 172474955], [172476769, 172476859], [172477945, 172478053], [172479399, 172479473], [172480205, 172480336], [172480480, 172480596], [172480699, 172480762], [172482067, 172482290], [172486796, 172486933], [172491692, 172491812], [172499952, 172500021], [172501588, 172501699], [172502496, 172502593], [172504282, 172504364], [172520405, 172520484], [172520650, 172520770], [172523520, 172523659], [172525559, 172525714], [172533393, 172533501], [172534480, 172534627], [172537937, 172539264]] [[172472320, 172472450], [172473084, 172473164], [172473272, 172473365], [172474772, 172474955], [172476769, 172476859], [172477945, 172478053], [172479399, 172479473], [172480205, 172480336], [172480480, 172480596], [172480699, 172480762], [172482067, 172482290], [172486796, 172486933], [172491692, 172491812], [172499952, 172500021], [172501588, 172501699], [172502496, 172502593], [172504282, 172504364], [172520405, 172520484], [172520650, 172520770], [172523520, 172523659], [172525559, 172525714], [172533393, 172533501], [172534480, 172534627], [172537937, 172538027]]
ENST00000427830 [[172468512, 172468647], [172472298, 172472450], [172473084, 172473164], [172474772, 172474955], [172476769, 172476859], [172477945, 172478053], [172479399, 172479473], [172480205, 172480336], [172480480, 172480596], [172480699, 172480762], [172482067, 172482290], [172486796, 172486933], [172491692, 172491812], [172499952, 172500021], [172501588, 172501699], [172502496, 172502593], [172504282, 172504364], [172520405, 172520484], [172520650, 172520770], [172523520, 172523659], [172525559, 172525714], [172533393, 172533501], [172534480, 172534627], [172536337, 172536559]] [[172472320, 172472450], [172473084, 172473164], [172474772, 172474955], [172476769, 172476859], [172477945, 172478053], [172479399, 172479473], [172480205, 172480336], [172480480, 172480596], [172480699, 172480762], [172482067, 172482290], [172486796, 172486933], [172491692, 172491812], [172499952, 172500021], [172501588, 172501699], [172502496, 172502593], [172504282, 172504364], [172520405, 172520484], [172520650, 172520770], [172523520, 172523659], [172525559, 172525714], [172533393, 172533501], [172534480, 172534627], [172536337, 172536559]]
ENST00000417960 [[172468515, 172468647], [172469939, 172470262], [172472298, 172472450], [172473087, 172473164], [172474772, 172474955], [172476769, 172476859], [172477945, 172478053], [172479399, 172479473], [172480205, 172480336], [172480480, 172480596], [172480699, 172480762], [172482067, 172482290], [172486796, 172486933], [172491692, 172491812], [172499952, 172500021], [172501588, 172501699], [172502496, 172502593], [172504282, 172504364], [172520405, 172520484], [172520650, 172520770], [172523520, 172523659], [172525559, 172525714], [172533393, 172533501], [172534480, 172534627], [172537937, 172539264]] [[172472320, 172472450], [172473087, 172473164], [172474772, 172474955], [172476769, 172476859], [172477945, 172478053], [172479399, 172479473], [172480205, 172480336], [172480480, 172480596], [172480699, 172480762], [172482067, 172482290], [172486796, 172486933], [172491692, 172491812], [172499952, 172500021], [172501588, 172501699], [172502496, 172502593], [172504282, 172504364], [172520405, 172520484], [172520650, 172520770], [172523520, 172523659], [172525559, 172525714], [172533393, 172533501], [172534480, 172534627], [172537937, 172538027]]
ENST00000441497 [[172472246, 172472450], [172473084, 172473164], [172474772, 172474955], [172476769, 172476859], [172477945, 172478053], [172479399, 172479473], [172480205, 172480336], [172480480, 172480596], [172480699, 172480762], [172482067, 172482290], [172486796, 172486933], [172491692, 172491812], [172499952, 172500021], [172501588, 172501699], [172502496, 172502593], [172504282, 172504364], [172520405, 172520484], [172520650, 172520770], [172523520, 172523659], [172525559, 172525714], [172533393, 172533501], [172534480, 172534627], [172537937, 172538126]] [[172472320, 172472450], [172473084, 172473164], [172474772, 172474955], [172476769, 172476859], [172477945, 172478053], [172479399, 172479473], [172480205, 172480336], [172480480, 172480596], [172480699, 172480762], [172482067, 172482290], [172486796, 172486933], [172491692, 172491812], [172499952, 172500021], [172501588, 172501699], [172502496, 172502593], [172504282, 172504364], [172520405, 172520484], [172520650, 172520770], [172523520, 172523659], [172525559, 172525714], [172533393, 172533501], [172534480, 172534627], [172537937, 172538027]]
ENST00000540509 [[172472320, 172472450], [172473084, 172473164], [172473272, 172473365], [172474772, 172474955], [172476769, 172476859], [172477945, 172478053], [172479399, 172479473], [172480205, 172480336], [172480480, 172480596], [172480699, 172480762], [172482067, 172482290], [172486796, 172486933], [172491692, 172491812], [172499952, 172500021], [172501588, 172501699], [172502496, 172502593], [172504282, 172504364], [172520405, 172520484], [172520650, 172520770], [172523520, 172523659], [172525559, 172525714], [172533393, 172533501], [172534480, 172534627], [172537937, 172538027]] [[172472320, 172472450], [172473084, 172473164], [172473272, 172473365], [172474772, 172474955], [172476769, 172476859], [172477945, 172478053], [172479399, 172479473], [172480205, 172480336], [172480480, 172480596], [172480699, 172480762], [172482067, 172482290], [172486796, 172486933], [172491692, 172491812], [172499952, 172500021], [172501588, 172501699], [172502496, 172502593], [172504282, 172504364], [172520405, 172520484], [172520650, 172520770], [172523520, 172523659], [172525559, 172525714], [172533393, 172533501], [172534480, 172534627], [172537937, 172538027]]
ENST00000444250 [[172480576, 172480596], [172480699, 172480762], [172482067, 172482203], [172486796, 172486933], [172491692, 172491812], [172499952, 172500021], [172501588, 172501670]] [[172480576, 172480596], [172480699, 172480762], [172482067, 172482203], [172486796, 172486933], [172491692, 172491812], [172499952, 172500021], [172501588, 172501670]]
ENST00000428567 [[172468547, 172468647], [172472298, 172472450], [172473087, 172473164], [172474772, 172474955], [172476769, 172476859], [172477945, 172478053], [172479399, 172479424]] [[172472320, 172472450], [172473087, 172473164], [172474772, 172474955], [172476769, 172476859], [172477945, 172478053], [172479399, 172479424]]
ENST00000366090 [[172468552, 172468647], [172469939, 172470226], [172472298, 172472450], [172473084, 172473164], [172473272, 172473365], [172474772, 172474799]] [[172472320, 172472450], [172473084, 172473164], [172473272, 172473365], [172474772, 172474799]]
ENST00000426894 [[172468552, 172468647], [172469939, 172470062], [172472298, 172472450], [172473084, 172473164], [172474772, 172474882]] [[172472320, 172472450], [172473084, 172473164], [172474772, 172474882]]
ENST00000366254 [[172468748, 172468906], [172469939, 172470262], [172472298, 172472375]] [[172472320, 172472375]]
ENST00000415665 [[172468769, 172468906], [172472298, 172472450], [172473084, 172473164], [172474772, 172474955], [172476769, 172476854]] [[172472320, 172472450], [172473084, 172473164], [172474772, 172474955], [172476769, 172476854]]
ENST00000438041 [[172468806, 172468906], [172472298, 172472450], [172473084, 172473164], [172473272, 172473365], [172474772, 172474920]] [[172472320, 172472450], [172473084, 172473164], [172473272, 172473365], [172474772, 172474920]]
ENST00000437296 [[172520480, 172520484], [172520650, 172520770], [172523520, 172523659], [172525559, 172525714], [172533393, 172533501], [172534480, 172534627], [172536337, 172536604], [172537937, 172539263]] [[172520480, 172520484], [172520650, 172520770], [172523520, 172523659], [172525559, 172525714], [172533393, 172533501], [172534480, 172534627], [172536337, 172536559]]
ENST00000460860 [[172520650, 172520770], [172523520, 172523897]] None
ENST00000486027 [[172525495, 172525714], [172533393, 172533501], [172534480, 172534627], [172536337, 172536604], [172537937, 172538101]] None
ENST00000487073 [[172536120, 172536604], [172537937, 172538081]] None
NM_018098 [[172468474, 172468647], [172472298, 172472450], [172473084, 172473164], [172474772, 172474955], [172476769, 172476859], [172477945, 172478053], [172479399, 172479473], [172480205, 172480336], [172480480, 172480596], [172480699, 172480762], [172482067, 172482290], [172486796, 172486933], [172491692, 172491812], [172499952, 172500021], [172501588, 172501699], [172502496, 172502593], [172504282, 172504364], [172520405, 172520484], [172520650, 172520770], [172523520, 172523659], [172525559, 172525714], [172533393, 172533501], [172534480, 172534627], [172537937, 172539264]] [[172472320, 172472450], [172473084, 172473164], [172474772, 172474955], [172476769, 172476859], [172477945, 172478053], [172479399, 172479473], [172480205, 172480336], [172480480, 172480596], [172480699, 172480762], [172482067, 172482290], [172486796, 172486933], [172491692, 172491812], [172499952, 172500021], [172501588, 172501699], [172502496, 172502593], [172504282, 172504364], [172520405, 172520484], [172520650, 172520770], [172523520, 172523659], [172525559, 172525714], [172533393, 172533501], [172534480, 172534627], [172537937, 172538027]]
NM_001258315 [[172468474, 172468647], [172472298, 172472450], [172473084, 172473164], [172473272, 172473365], [172474772, 172474955], [172476769, 172476859], [172477945, 172478053], [172479399, 172479473], [172480205, 172480336], [172480480, 172480596], [172480699, 172480762], [172482067, 172482290], [172486796, 172486933], [172491692, 172491812], [172499952, 172500021], [172501588, 172501699], [172502496, 172502593], [172504282, 172504364], [172520405, 172520484], [172520650, 172520770], [172523520, 172523659], [172525559, 172525714], [172533393, 172533501], [172534480, 172534627], [172537937, 172539264]] [[172472320, 172472450], [172473084, 172473164], [172473272, 172473365], [172474772, 172474955], [172476769, 172476859], [172477945, 172478053], [172479399, 172479473], [172480205, 172480336], [172480480, 172480596], [172480699, 172480762], [172482067, 172482290], [172486796, 172486933], [172491692, 172491812], [172499952, 172500021], [172501588, 172501699], [172502496, 172502593], [172504282, 172504364], [172520405, 172520484], [172520650, 172520770], [172523520, 172523659], [172525559, 172525714], [172533393, 172533501], [172534480, 172534627], [172537937, 172538027]]
NM_001258316 [[172468474, 172468647], [172469939, 172470262], [172472298, 172472450], [172473084, 172473164], [172474772, 172474955], [172476769, 172476859], [172477945, 172478053], [172479399, 172479473], [172480205, 172480336], [172480480, 172480596], [172480699, 172480762], [172482067, 172482290], [172486796, 172486933], [172491692, 172491812], [172499952, 172500021], [172501588, 172501699], [172502496, 172502593], [172504282, 172504364], [172520405, 172520484], [172520650, 172520770], [172523520, 172523659], [172525559, 172525714], [172533393, 172533501], [172534480, 172534627], [172537937, 172539264]] [[172472320, 172472450], [172473084, 172473164], [172474772, 172474955], [172476769, 172476859], [172477945, 172478053], [172479399, 172479473], [172480205, 172480336], [172480480, 172480596], [172480699, 172480762], [172482067, 172482290], [172486796, 172486933], [172491692, 172491812], [172499952, 172500021], [172501588, 172501699], [172502496, 172502593], [172504282, 172504364], [172520405, 172520484], [172520650, 172520770], [172523520, 172523659], [172525559, 172525714], [172533393, 172533501], [172534480, 172534627], [172537937, 172538027]]
Promoter
Chrom Start End Description
chr3 172468477 172468488 CAGE_peak_3_at_ECT2_5end
chr3 172468505 172468582 CAGE_peak_1_at_ECT2_5end
chr3 172468764 172468821 CAGE_peak_2_at_ECT2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I172690 172690942 172693200 1.16 [{'connected_gene': 'NCEH1', 'score': 14.7}, {'connected_gene': 'ECT2', 'score': 10.18}, {'connected_gene': 'GC03M172695', 'score': 0.77}, {'connected_gene': 'LOC100420939', 'score': 0.39}]
chr3 GH03I172720 172720522 172721886 0.2 [{'connected_gene': 'NCEH1', 'score': 20.95}, {'connected_gene': 'ECT2', 'score': 0.31}]
chr3 GH03I171804 171804047 171813327 2.79 [{'connected_gene': 'PLD1', 'score': 569.14}, {'connected_gene': 'FNDC3B', 'score': 14.25}, {'connected_gene': 'TMEM212', 'score': 11.06}, {'connected_gene': 'RPL22L1', 'score': 9.95}, {'connected_gene': 'ECT2', 'score': 4.9}, {'connected_gene': 'TNIK', 'score': 4.36}, {'connected_gene': 'ENSG00000234594', 'score': 0.06}]
chr3 GH03I171787 171787476 171793361 1.35 [{'connected_gene': 'PLD1', 'score': 28.48}, {'connected_gene': 'TMEM212', 'score': 10.95}, {'connected_gene': 'FNDC3B', 'score': 9.92}, {'connected_gene': 'ECT2', 'score': 4.53}, {'connected_gene': 'ENSG00000234594', 'score': 0.07}]
chr3 GH03I171780 171780487 171780903 0.2 [{'connected_gene': 'PLD1', 'score': 11.21}, {'connected_gene': 'TMEM212', 'score': 9.3}, {'connected_gene': 'ECT2', 'score': 4.17}, {'connected_gene': 'ENSG00000234594', 'score': 0.07}]
chr3 GH03I171781 171781231 171783521 0.97 [{'connected_gene': 'PLD1', 'score': 26.11}, {'connected_gene': 'TMEM212', 'score': 10.74}, {'connected_gene': 'ECT2', 'score': 4.18}, {'connected_gene': 'ENSG00000234594', 'score': 0.07}]
chr3 GH03I172747 172747782 172752610 2.58 [{'connected_gene': 'ECT2', 'score': 555.47}, {'connected_gene': 'NCEH1', 'score': 29.71}, {'connected_gene': 'RNU6-547P', 'score': 11.38}]

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