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
ENST00000444472 [[101493610, 101494835], [101498777, 101498905], [101507840, 101507957], [101513310, 101513378], [101518701, 101518888], [101530362, 101530532], [101533177, 101533328], [101536158, 101536362], [101539686, 101539708]] [[101498800, 101498905], [101507840, 101507957], [101513310, 101513378], [101518701, 101518888], [101530362, 101530532], [101533177, 101533328], [101536158, 101536362], [101539686, 101539708]]
ENST00000375019 [[101494277, 101494835], [101498808, 101498905], [101507840, 101507957], [101513310, 101513378], [101518701, 101518885], [101530362, 101530532], [101533177, 101533328], [101536158, 101536362], [101539686, 101539736], [101540507, 101540706], [101542470, 101542619], [101544748, 101544855], [101546234, 101546439], [101547113, 101547158], [101558965, 101559247]] [[101494785, 101494835], [101498808, 101498905], [101507840, 101507957], [101513310, 101513378], [101518701, 101518885], [101530362, 101530532], [101533177, 101533328], [101536158, 101536362], [101539686, 101539736], [101540507, 101540706], [101542470, 101542619], [101544748, 101544855], [101546234, 101546439], [101547113, 101547117]]
ENST00000375018 [[101494290, 101498905], [101507840, 101507957], [101513310, 101513378], [101518701, 101518888], [101530362, 101530532], [101533177, 101533328], [101536158, 101536362], [101539686, 101539736], [101540507, 101540706], [101542470, 101542619], [101544748, 101544855], [101546234, 101546439], [101547113, 101547158], [101552385, 101552888], [101558414, 101558794]] [[101498800, 101498905], [101507840, 101507957], [101513310, 101513378], [101518701, 101518888], [101530362, 101530532], [101533177, 101533328], [101536158, 101536362], [101539686, 101539736], [101540507, 101540706], [101542470, 101542619], [101544748, 101544855], [101546234, 101546439], [101547113, 101547158], [101552385, 101552888], [101558414, 101558773]]
ENST00000353234 [[101494300, 101498905], [101507840, 101507957], [101513310, 101513378], [101518701, 101518885], [101530362, 101530532], [101533177, 101533328], [101536158, 101536362], [101539686, 101539736], [101540507, 101540706], [101542470, 101542619], [101544748, 101544855], [101546234, 101546439], [101547113, 101547158], [101552385, 101552888], [101558414, 101558821]] [[101498800, 101498905], [101507840, 101507957], [101513310, 101513378], [101518701, 101518885], [101530362, 101530532], [101533177, 101533328], [101536158, 101536362], [101539686, 101539736], [101540507, 101540706], [101542470, 101542619], [101544748, 101544855], [101546234, 101546439], [101547113, 101547158], [101552385, 101552888], [101558414, 101558773]]
ENST00000540940 [[101494301, 101494835], [101498283, 101498905], [101507840, 101507957], [101513310, 101513378], [101518701, 101518885], [101530362, 101530532], [101533177, 101533328], [101536158, 101536362], [101539686, 101539736], [101540507, 101540706], [101542470, 101542619], [101544748, 101544855], [101546234, 101546439], [101547113, 101547158], [101552385, 101552885]] [[101498800, 101498905], [101507840, 101507957], [101513310, 101513378], [101518701, 101518885], [101530362, 101530532], [101533177, 101533328], [101536158, 101536362], [101539686, 101539736], [101540507, 101540706], [101542470, 101542619], [101544748, 101544855], [101546234, 101546439], [101547113, 101547158], [101552385, 101552662]]
ENST00000486778 [[101545851, 101546439], [101546661, 101546750]] None
ENST00000466120 [[101546231, 101546439], [101547113, 101547158], [101552385, 101552778]] None
ENST00000471846 [[101552192, 101552888], [101558414, 101558821]] None
NM_173551 [[101494290, 101498905], [101507840, 101507957], [101513310, 101513378], [101518701, 101518885], [101530362, 101530532], [101533177, 101533328], [101536158, 101536362], [101539686, 101539736], [101540507, 101540706], [101542470, 101542619], [101544748, 101544855], [101546234, 101546439], [101547113, 101547158], [101552385, 101552888], [101558414, 101558824]] [[101498800, 101498905], [101507840, 101507957], [101513310, 101513378], [101518701, 101518885], [101530362, 101530532], [101533177, 101533328], [101536158, 101536362], [101539686, 101539736], [101540507, 101540706], [101542470, 101542619], [101544748, 101544855], [101546234, 101546439], [101547113, 101547158], [101552385, 101552888], [101558414, 101558773]]
Promoter
Chrom Start End Description
chr9 101558702 101558731 CAGE_peak_3_at_ANKS6_5end
chr9 101558777 101558844 CAGE_peak_1_at_ANKS6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I098117 98117444 98123006 2.54 [{'connected_gene': 'TRIM14', 'score': 559.71}, {'connected_gene': 'NCBP1', 'score': 56.4}, {'connected_gene': 'ZNF322P1', 'score': 38.92}, {'connected_gene': 'TSTD2', 'score': 38.4}, {'connected_gene': 'ENSG00000254633', 'score': 26.39}, {'connected_gene': 'CORO2A', 'score': 22.74}, {'connected_gene': 'ANKS6', 'score': 21.53}, {'connected_gene': 'CCDC180', 'score': 18.62}, {'connected_gene': 'LOC105376171', 'score': 12.1}, {'connected_gene': 'XPA', 'score': 11.9}, {'connected_gene': 'TBC1D2', 'score': 10.26}, {'connected_gene': 'TRMO', 'score': 5.09}, {'connected_gene': 'FOXE1', 'score': 5.03}, {'connected_gene': 'HEMGN', 'score': 1.26}, {'connected_gene': 'PIR36587', 'score': 0.39}]
chr9 GH09I098373 98373309 98376954 1.6 [{'connected_gene': 'GABBR2', 'score': 4.67}, {'connected_gene': 'ANKS6', 'score': 1.27}, {'connected_gene': 'TBC1D2', 'score': 0.13}, {'connected_gene': 'GC09M098492', 'score': 0.13}]
chr9 GH09I098606 98606756 98611339 0.56 [{'connected_gene': 'GABBR2', 'score': 11.22}, {'connected_gene': 'ANKS6', 'score': 5.46}, {'connected_gene': 'SEPT7P7', 'score': 0.44}]
chr9 GH09I098709 98709206 98709265 0.73 [{'connected_gene': 'GABBR2', 'score': 550.77}, {'connected_gene': 'ANKS6', 'score': 0.17}]
chr9 GH09I098750 98750201 98750800 0.2 [{'connected_gene': 'GALNT12', 'score': 10.5}, {'connected_gene': 'ANKS6', 'score': 6.32}, {'connected_gene': 'GABBR2', 'score': 0.26}]
chr9 GH09I098806 98806635 98811689 2.4 [{'connected_gene': 'GALNT12', 'score': 552.8}, {'connected_gene': 'ANKS6', 'score': 14.64}, {'connected_gene': 'GC09P098862', 'score': 0.23}]
chr9 GH09I098805 98805416 98806289 0.77 [{'connected_gene': 'GALNT12', 'score': 550.77}, {'connected_gene': 'ANKS6', 'score': 11.89}]
chr9 GH09I097932 97932895 97944494 1.67 [{'connected_gene': 'HEMGN', 'score': 550.44}, {'connected_gene': 'ENSG00000236896', 'score': 22.76}, {'connected_gene': 'TRMO', 'score': 21.52}, {'connected_gene': 'ANP32B', 'score': 12.13}, {'connected_gene': 'ANKS6', 'score': 4.95}, {'connected_gene': 'FOXE1', 'score': 4.64}]
chr9 GH09I098097 98097374 98110701 1.47 [{'connected_gene': 'NANS', 'score': 14.92}, {'connected_gene': 'ANKS6', 'score': 11.39}, {'connected_gene': 'TBC1D2', 'score': 11.13}, {'connected_gene': 'CCDC180', 'score': 10.6}, {'connected_gene': 'TRIM14', 'score': 9.15}, {'connected_gene': 'TRMO', 'score': 4.56}, {'connected_gene': 'ENSG00000274011', 'score': 0.39}, {'connected_gene': 'PIR57415', 'score': 0.37}, {'connected_gene': 'GC09M098247', 'score': 0.37}]
chr9 GH09I098777 98777697 98785235 0.92 [{'connected_gene': 'ANKS6', 'score': 14.67}, {'connected_gene': 'GABBR2', 'score': 0.19}]
chr9 GH09I098775 98775979 98776128 0.6 [{'connected_gene': 'ANKS6', 'score': 0.34}, {'connected_gene': 'GABBR2', 'score': 0.2}]
chr9 GH09I098766 98766659 98766808 0.58 [{'connected_gene': 'ANKS6', 'score': 11.9}, {'connected_gene': 'GABBR2', 'score': 10.96}]
chr9 GH09I098790 98790665 98792440 1.32 [{'connected_gene': 'ANKS6', 'score': 12.68}, {'connected_gene': 'GABBR2', 'score': 0.18}]
chr9 GH09I098786 98786387 98787713 0.58 [{'connected_gene': 'ANKS6', 'score': 0.44}, {'connected_gene': 'GABBR2', 'score': 0.18}]
chr9 GH09I098795 98795549 98797201 1.85 [{'connected_gene': 'ANKS6', 'score': 562.2}, {'connected_gene': 'GABBR2', 'score': 0.17}]

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