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
ENST00000333486 [[49842639, 49842870], [49843329, 49843430], [49843505, 49843598], [49845168, 49845360], [49845452, 49845545], [49845818, 49845901], [49846408, 49846592], [49846822, 49846897], [49846974, 49847158], [49847247, 49847312], [49847410, 49847616], [49847695, 49847861], [49847949, 49848105], [49848184, 49848265], [49848416, 49848524], [49848705, 49848888], [49849302, 49849449], [49849541, 49849639], [49849840, 49849976], [49850080, 49850171], [49850494, 49850601], [49850681, 49850816], [49850911, 49851080], [49851164, 49851379]] [[49842740, 49842870], [49843329, 49843430], [49843505, 49843598], [49845168, 49845360], [49845452, 49845545], [49845818, 49845901], [49846408, 49846592], [49846822, 49846897], [49846974, 49847158], [49847247, 49847312], [49847410, 49847616], [49847695, 49847861], [49847949, 49848105], [49848184, 49848265], [49848416, 49848524], [49848705, 49848888], [49849302, 49849449], [49849541, 49849639], [49849840, 49849976], [49850080, 49850171], [49850494, 49850601], [49850681, 49850816], [49850911, 49851080], [49851164, 49851220]]
ENST00000497908 [[49842656, 49842870], [49843329, 49843723]] None
ENST00000488536 [[49845474, 49845545], [49845818, 49845901], [49846408, 49846592], [49846822, 49847138]] None
ENST00000483751 [[49846440, 49847158], [49847247, 49847312], [49847410, 49847480]] None
ENST00000478875 [[49846616, 49847158], [49847247, 49847320]] None
ENST00000473992 [[49847007, 49847158], [49847247, 49847312], [49847410, 49847783]] None
ENST00000489826 [[49847411, 49847861], [49847949, 49847997]] None
ENST00000460516 [[49847892, 49848105], [49848184, 49848265], [49848416, 49848524], [49848705, 49848888]] None
ENST00000460703 [[49847958, 49848105], [49848184, 49848265], [49848416, 49849225]] None
ENST00000478688 [[49848802, 49849449], [49849541, 49849639], [49849840, 49849904]] None
ENST00000494212 [[49849880, 49849976], [49850494, 49850601], [49850681, 49850816], [49850911, 49851080], [49851164, 49851365]] None
NM_003335 [[49842637, 49842870], [49843329, 49843430], [49843505, 49843598], [49845168, 49845360], [49845452, 49845545], [49845818, 49845901], [49846408, 49846592], [49846822, 49846897], [49846974, 49847158], [49847247, 49847312], [49847410, 49847616], [49847695, 49847861], [49847949, 49848105], [49848184, 49848265], [49848416, 49848524], [49848705, 49848888], [49849302, 49849449], [49849541, 49849639], [49849840, 49849976], [49850080, 49850171], [49850494, 49850601], [49850681, 49850816], [49850911, 49851080], [49851164, 49851391]] [[49842740, 49842870], [49843329, 49843430], [49843505, 49843598], [49845168, 49845360], [49845452, 49845545], [49845818, 49845901], [49846408, 49846592], [49846822, 49846897], [49846974, 49847158], [49847247, 49847312], [49847410, 49847616], [49847695, 49847861], [49847949, 49848105], [49848184, 49848265], [49848416, 49848524], [49848705, 49848888], [49849302, 49849449], [49849541, 49849639], [49849840, 49849976], [49850080, 49850171], [49850494, 49850601], [49850681, 49850816], [49850911, 49851080], [49851164, 49851220]]
Promoter
Chrom Start End Description
chr3 49851313 49851404 CAGE_peak_1_at_UBA7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I049790 49790188 49790417 0.72 [{'connected_gene': 'LAMB2', 'score': 19.02}, {'connected_gene': 'TMEM115', 'score': 15.11}, {'connected_gene': 'QRICH1', 'score': 15.09}, {'connected_gene': 'CCDC71', 'score': 14.13}, {'connected_gene': 'RHOA-IT1', 'score': 13.8}, {'connected_gene': 'RBM6', 'score': 12.55}, {'connected_gene': 'RASSF1', 'score': 12.15}, {'connected_gene': 'QARS', 'score': 11.21}, {'connected_gene': 'USP19', 'score': 11.18}, {'connected_gene': 'UBA7', 'score': 10.59}, {'connected_gene': 'RBM5', 'score': 10.29}, {'connected_gene': 'HEMK1', 'score': 9.85}, {'connected_gene': 'ENSG00000225399', 'score': 9.66}, {'connected_gene': 'IP6K1', 'score': 0.77}, {'connected_gene': 'CDHR4', 'score': 0.39}, {'connected_gene': 'GC03P049762', 'score': 0.31}, {'connected_gene': 'GC03P049763', 'score': 0.31}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3 GH03I049338 49338697 49353402 2.66 [{'connected_gene': 'USP4', 'score': 565.03}, {'connected_gene': 'AMT', 'score': 71.69}, {'connected_gene': 'QRICH1', 'score': 41.08}, {'connected_gene': 'ENSG00000235236', 'score': 38.82}, {'connected_gene': 'RBM6', 'score': 32.91}, {'connected_gene': 'ATRIP', 'score': 29.45}, {'connected_gene': 'RBM5', 'score': 29.3}, {'connected_gene': 'WDR6', 'score': 28.82}, {'connected_gene': 'IP6K2', 'score': 27.4}, {'connected_gene': 'ENSG00000230454', 'score': 23.04}, {'connected_gene': 'DALRD3', 'score': 17.18}, {'connected_gene': 'RHOA', 'score': 16.73}, {'connected_gene': 'NICN1', 'score': 15.66}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.61}, {'connected_gene': 'USP19', 'score': 14.04}, {'connected_gene': 'TCTA', 'score': 12.02}, {'connected_gene': 'FAM212A', 'score': 11.68}, {'connected_gene': 'APEH', 'score': 11.53}, {'connected_gene': 'ENSG00000223343', 'score': 11.11}, {'connected_gene': 'RHOA-IT1', 'score': 11.06}, {'connected_gene': 'NAT6', 'score': 11.0}, {'connected_gene': 'C3orf62', 'score': 10.9}, {'connected_gene': 'IMPDH2', 'score': 10.5}, {'connected_gene': 'NDUFAF3', 'score': 10.5}, {'connected_gene': 'MIR191', 'score': 10.5}, {'connected_gene': 'MIR425', 'score': 10.5}, {'connected_gene': 'P4HTM', 'score': 10.45}, {'connected_gene': 'QARS', 'score': 9.64}, {'connected_gene': 'CDHR4', 'score': 5.64}, {'connected_gene': 'ARIH2', 'score': 3.95}, {'connected_gene': 'MST1', 'score': 3.73}, {'connected_gene': 'IP6K1', 'score': 3.52}, {'connected_gene': 'UBA7', 'score': 2.45}, {'connected_gene': 'GC03M049358', 'score': 0.39}]
chr3 GH03I049387 49387738 49387957 0.86 [{'connected_gene': 'USP4', 'score': 1.95}, {'connected_gene': 'ARIH2', 'score': 1.71}, {'connected_gene': 'UBA7', 'score': 1.47}, {'connected_gene': 'QRICH1', 'score': 1.31}, {'connected_gene': 'TCTA', 'score': 0.34}, {'connected_gene': 'RHOA-IT1', 'score': 0.34}, {'connected_gene': 'RHOA', 'score': 0.31}]
chr3 GH03I049812 49812686 49815224 2 [{'connected_gene': 'UBA7', 'score': 550.77}, {'connected_gene': 'CDHR4', 'score': 34.66}, {'connected_gene': 'MIR5193', 'score': 0.44}, {'connected_gene': 'GC03P049763', 'score': 0.23}, {'connected_gene': 'GC03P049762', 'score': 0.23}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3 GH03I049843 49843970 49846425 0.81 [{'connected_gene': 'UBA7', 'score': 22.19}, {'connected_gene': 'GC03M049859', 'score': 0.39}, {'connected_gene': 'GC03M049858', 'score': 0.39}, {'connected_gene': 'TRAIP', 'score': 0.39}, {'connected_gene': 'GC03P049763', 'score': 0.18}, {'connected_gene': 'GC03P049762', 'score': 0.18}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3 GH03I049802 49802168 49809387 2.22 [{'connected_gene': 'FAM212A', 'score': 573.95}, {'connected_gene': 'MIR5193', 'score': 550.77}, {'connected_gene': 'CDHR4', 'score': 35.44}, {'connected_gene': 'AMT', 'score': 21.2}, {'connected_gene': 'WDR6', 'score': 3.79}, {'connected_gene': 'UBA7', 'score': 0.44}, {'connected_gene': 'GC03P049762', 'score': 0.26}, {'connected_gene': 'GC03P049763', 'score': 0.26}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3 GH03I049670 49670641 49672400 1.08 [{'connected_gene': 'APEH', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 25.67}, {'connected_gene': 'BSN-AS1', 'score': 10.98}, {'connected_gene': 'BSN', 'score': 10.81}, {'connected_gene': 'BSN-AS2', 'score': 10.81}, {'connected_gene': 'CDHR4', 'score': 10.71}, {'connected_gene': 'UBA7', 'score': 8.58}, {'connected_gene': 'MST1', 'score': 7.83}, {'connected_gene': 'PIR32155', 'score': 0.44}, {'connected_gene': 'GC03P049421', 'score': 0.07}]
chr3 GH03I050234 50234631 50255880 2.78 [{'connected_gene': 'GNAI2', 'score': 569.2}, {'connected_gene': 'HYAL3', 'score': 35.42}, {'connected_gene': 'RBM5', 'score': 27.81}, {'connected_gene': 'SEMA3F-AS1', 'score': 26.99}, {'connected_gene': 'RBM6', 'score': 23.84}, {'connected_gene': 'HYAL1', 'score': 17.03}, {'connected_gene': 'CYB561D2', 'score': 15.14}, {'connected_gene': 'RHOA-IT1', 'score': 14.23}, {'connected_gene': 'AMT', 'score': 14.19}, {'connected_gene': 'HEMK1', 'score': 14.15}, {'connected_gene': 'TMEM115', 'score': 13.49}, {'connected_gene': 'SEMA3B-AS1', 'score': 13.32}, {'connected_gene': 'SEMA3B', 'score': 13.32}, {'connected_gene': 'LSMEM2', 'score': 13.27}, {'connected_gene': 'NAT6', 'score': 12.99}, {'connected_gene': 'RASSF1', 'score': 12.62}, {'connected_gene': 'IFRD2', 'score': 12.32}, {'connected_gene': 'SEMA3F', 'score': 11.68}, {'connected_gene': 'UBA7', 'score': 10.27}, {'connected_gene': 'IP6K1', 'score': 8.84}, {'connected_gene': 'DOCK3', 'score': 5.02}, {'connected_gene': 'ENSG00000230454', 'score': 4.17}, {'connected_gene': 'MAPKAPK3', 'score': 4.06}, {'connected_gene': 'ENSG00000213600', 'score': 0.44}]
chr3 GH03I050598 50598964 50614009 3.21 [{'connected_gene': 'CISH', 'score': 557.82}, {'connected_gene': 'MAPKAPK3', 'score': 554.96}, {'connected_gene': 'HEMK1', 'score': 34.01}, {'connected_gene': 'RBM5', 'score': 31.64}, {'connected_gene': 'RBM6', 'score': 31.48}, {'connected_gene': 'TMEM115', 'score': 23.58}, {'connected_gene': 'RAD54L2', 'score': 22.02}, {'connected_gene': 'SEMA3F-AS1', 'score': 15.35}, {'connected_gene': 'C3orf18', 'score': 14.08}, {'connected_gene': 'DOCK3', 'score': 11.29}, {'connected_gene': 'RASSF1', 'score': 10.86}, {'connected_gene': 'MANF', 'score': 10.68}, {'connected_gene': 'UBA7', 'score': 10.65}, {'connected_gene': 'NAT6', 'score': 10.24}, {'connected_gene': 'TRAIP', 'score': 9.95}, {'connected_gene': 'HYAL1', 'score': 3.89}, {'connected_gene': 'ENSG00000230454', 'score': 3.87}, {'connected_gene': 'ENSG00000280382', 'score': 0.44}]
chr3 GH03I049838 49838828 49841508 0.94 [{'connected_gene': 'WDR6', 'score': 34.11}, {'connected_gene': 'CDHR4', 'score': 29.86}, {'connected_gene': 'FAM212A', 'score': 22.53}, {'connected_gene': 'AMT', 'score': 20.57}, {'connected_gene': 'GC03M049859', 'score': 0.37}, {'connected_gene': 'GC03M049858', 'score': 0.37}, {'connected_gene': 'TRAIP', 'score': 0.37}, {'connected_gene': 'UBA7', 'score': 0.31}, {'connected_gene': 'GC03P049762', 'score': 0.18}, {'connected_gene': 'GC03P049763', 'score': 0.18}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3 GH03I049320 49320858 49321450 0.41 [{'connected_gene': 'WDR6', 'score': 11.67}, {'connected_gene': 'C3orf62', 'score': 11.63}, {'connected_gene': 'NICN1', 'score': 11.46}, {'connected_gene': 'AMT', 'score': 11.11}, {'connected_gene': 'LAMB2', 'score': 10.43}, {'connected_gene': 'KLHDC8B', 'score': 10.42}, {'connected_gene': 'CCDC71', 'score': 10.42}, {'connected_gene': 'QARS', 'score': 9.9}, {'connected_gene': 'USP4', 'score': 9.57}, {'connected_gene': 'IP6K1', 'score': 4.06}, {'connected_gene': 'ARIH2', 'score': 3.51}, {'connected_gene': 'UBA7', 'score': 2.43}, {'connected_gene': 'NDUFAF3', 'score': 2.29}, {'connected_gene': 'ARIH2OS', 'score': 2.0}, {'connected_gene': 'USP19', 'score': 1.65}, {'connected_gene': 'DALRD3', 'score': 1.47}, {'connected_gene': 'QRICH1', 'score': 1.33}]
chr3 GH03I050146 50146166 50148615 0.63 [{'connected_gene': 'RBM6', 'score': 32.04}, {'connected_gene': 'RBM5', 'score': 13.7}, {'connected_gene': 'RASSF1', 'score': 11.56}, {'connected_gene': 'TMEM115', 'score': 11.22}, {'connected_gene': 'RHOA-IT1', 'score': 10.86}, {'connected_gene': 'SEMA3F-AS1', 'score': 10.56}, {'connected_gene': 'CYB561D2', 'score': 9.71}, {'connected_gene': 'UBA7', 'score': 4.21}, {'connected_gene': 'SEMA3F', 'score': 0.44}, {'connected_gene': 'RBM5-AS1', 'score': 0.25}]
chr3 GH03I049855 49855713 49857275 1.95 [{'connected_gene': 'GC03M049859', 'score': 550.77}, {'connected_gene': 'GC03M049858', 'score': 550.77}, {'connected_gene': 'TRAIP', 'score': 550.77}, {'connected_gene': 'QRICH1', 'score': 43.47}, {'connected_gene': 'USP19', 'score': 38.41}, {'connected_gene': 'CDHR4', 'score': 27.83}, {'connected_gene': 'CCDC36', 'score': 22.08}, {'connected_gene': 'ENSG00000225399', 'score': 21.22}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.73}, {'connected_gene': 'RBM6', 'score': 14.62}, {'connected_gene': 'RBM5', 'score': 13.81}, {'connected_gene': 'RHOA-IT1', 'score': 13.57}, {'connected_gene': 'TMEM115', 'score': 12.88}, {'connected_gene': 'RASSF1', 'score': 12.34}, {'connected_gene': 'CCDC71', 'score': 12.26}, {'connected_gene': 'QARS', 'score': 10.84}, {'connected_gene': 'IMPDH2', 'score': 10.4}, {'connected_gene': 'ENSG00000235236', 'score': 10.3}, {'connected_gene': 'ARIH2', 'score': 9.99}, {'connected_gene': 'NAT6', 'score': 9.86}, {'connected_gene': 'HEMK1', 'score': 9.68}, {'connected_gene': 'UBA7', 'score': 0.26}, {'connected_gene': 'GC03P049762', 'score': 0.16}, {'connected_gene': 'GC03P049763', 'score': 0.16}, {'connected_gene': 'GC03P049421', 'score': 0.05}]

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