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
ENST00000462108 [[49828164, 49828320], [49829146, 49829234], [49829335, 49829392], [49830286, 49830364]] None
ENST00000487666 [[49828164, 49828320], [49828873, 49828904], [49829146, 49829234], [49829335, 49829392], [49829900, 49830043], [49830286, 49830365]] [[49828264, 49828320], [49828873, 49828904], [49829146, 49829234], [49829335, 49829392], [49829900, 49830043], [49830286, 49830365]]
ENST00000460430 [[49828164, 49828320], [49828873, 49828904], [49829146, 49829234], [49829335, 49829392], [49830286, 49830507], [49830593, 49830705]] [[49829219, 49829234], [49829335, 49829392], [49830286, 49830507], [49830593, 49830705]]
ENST00000412678 [[49828164, 49828320], [49828873, 49828901], [49829146, 49829234], [49829335, 49829392], [49829900, 49830043], [49830286, 49830507], [49830593, 49830744], [49831015, 49831155], [49831235, 49831439], [49832040, 49832134], [49832379, 49832533], [49832628, 49832812], [49833060, 49833197], [49833375, 49833479], [49834354, 49834465], [49836258, 49836350], [49836426, 49836589], [49836679, 49836870], [49837196, 49837254]] [[49828264, 49828320], [49828873, 49828901], [49829146, 49829234], [49829335, 49829392], [49829900, 49830043], [49830286, 49830507], [49830593, 49830744], [49831015, 49831155], [49831235, 49831439], [49832040, 49832134], [49832379, 49832533], [49832628, 49832812], [49833060, 49833197], [49833375, 49833479], [49834354, 49834465], [49836258, 49836350], [49836426, 49836589], [49836679, 49836870], [49837196, 49837245]]
ENST00000343366 [[49835664, 49836589], [49836679, 49836870], [49837196, 49837268]] [[49836229, 49836589], [49836679, 49836870], [49837196, 49837245]]
ENST00000487256 [[49835759, 49836350], [49836426, 49836589], [49836679, 49836870], [49837196, 49837268]] [[49836198, 49836350], [49836426, 49836589], [49836679, 49836870], [49837196, 49837245]]
NM_001007540 [[49828164, 49828320], [49828873, 49828901], [49829146, 49829234], [49829335, 49829392], [49829900, 49830043], [49830286, 49830507], [49830593, 49830744], [49831015, 49831155], [49831235, 49831439], [49832040, 49832134], [49832379, 49832533], [49832628, 49832812], [49833060, 49833197], [49833375, 49833479], [49834354, 49834465], [49836258, 49836350], [49836426, 49836589], [49836679, 49836870], [49837196, 49837268]] [[49828264, 49828320], [49828873, 49828901], [49829146, 49829234], [49829335, 49829392], [49829900, 49830043], [49830286, 49830507], [49830593, 49830744], [49831015, 49831155], [49831235, 49831439], [49832040, 49832134], [49832379, 49832533], [49832628, 49832812], [49833060, 49833197], [49833375, 49833479], [49834354, 49834465], [49836258, 49836350], [49836426, 49836589], [49836679, 49836870], [49837196, 49837245]]
Promoter
Chrom Start End Description
chr3 49837254 49837283 CAGE_peak_1_at_CDHR4_5end
chr3 49837284 49837312 CAGE_peak_2_at_CDHR4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I049784 49784979 49788140 2.02 [{'connected_gene': 'IP6K1', 'score': 550.77}, {'connected_gene': 'CDHR4', 'score': 31.76}, {'connected_gene': 'QRICH1', 'score': 24.95}, {'connected_gene': 'USP19', 'score': 23.53}, {'connected_gene': 'FAM212A', 'score': 23.49}, {'connected_gene': 'CCDC36', 'score': 22.08}, {'connected_gene': 'ENSG00000225399', 'score': 21.22}, {'connected_gene': 'AMT', 'score': 20.38}, {'connected_gene': 'PRKAR2A', 'score': 12.95}, {'connected_gene': 'IMPDH2', 'score': 10.4}, {'connected_gene': 'ENSG00000235236', 'score': 10.3}, {'connected_gene': 'ARIH2', 'score': 9.99}, {'connected_gene': 'NAT6', 'score': 9.85}, {'connected_gene': 'C3orf18', 'score': 3.71}, {'connected_gene': 'GC03P049762', 'score': 0.34}, {'connected_gene': 'GC03P049763', 'score': 0.34}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
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 GH03I049924 49924465 49931909 2.25 [{'connected_gene': 'MON1A', 'score': 550.77}, {'connected_gene': 'RBM6', 'score': 43.9}, {'connected_gene': 'CDHR4', 'score': 8.77}, {'connected_gene': 'GPX1', 'score': 4.73}, {'connected_gene': 'SEMA3F-AS1', 'score': 4.44}, {'connected_gene': 'HYAL1', 'score': 3.64}, {'connected_gene': 'GC03P049904', 'score': 0.34}, {'connected_gene': 'LOC102724438', 'score': 0.31}, {'connected_gene': 'GC03P049762', 'score': 0.1}, {'connected_gene': 'GC03P049763', 'score': 0.1}]
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 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 GH03I049686 49686242 49690453 2.25 [{'connected_gene': 'MST1', 'score': 559.59}, {'connected_gene': 'PIR39139', 'score': 550.77}, {'connected_gene': 'RNF123', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 19.19}, {'connected_gene': 'RBM6', 'score': 15.08}, {'connected_gene': 'QRICH1', 'score': 13.66}, {'connected_gene': 'CDHR4', 'score': 12.75}, {'connected_gene': 'AMIGO3', 'score': 12.64}, {'connected_gene': 'GMPPB', 'score': 12.63}, {'connected_gene': 'IMPDH2', 'score': 12.17}, {'connected_gene': 'USP19', 'score': 11.55}, {'connected_gene': 'PHF5EP', 'score': 11.1}, {'connected_gene': 'IP6K1', 'score': 11.08}, {'connected_gene': 'TMEM115', 'score': 10.21}, {'connected_gene': 'APEH', 'score': 7.85}, {'connected_gene': 'PIR43040', 'score': 0.77}, {'connected_gene': 'GC03P049421', 'score': 0.06}]
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 GH03I049799 49799385 49800477 1.13 [{'connected_gene': 'CDHR4', 'score': 550.77}, {'connected_gene': 'IP6K1', 'score': 0.39}, {'connected_gene': 'GC03P049763', 'score': 0.28}, {'connected_gene': 'GC03P049762', 'score': 0.28}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3 GH03I050075 50075001 50075600 0.38 [{'connected_gene': 'CDHR4', 'score': 8.2}, {'connected_gene': 'RBM6', 'score': 4.75}, {'connected_gene': 'RBM5', 'score': 0.39}]
chr3 GH03I049673 49673059 49675816 2.03 [{'connected_gene': 'APEH', 'score': 550.77}, {'connected_gene': 'FAM212A', 'score': 13.54}, {'connected_gene': 'CDHR4', 'score': 10.42}, {'connected_gene': 'SEMA3B-AS1', 'score': 6.33}, {'connected_gene': 'ENSG00000259970', 'score': 0.39}, {'connected_gene': 'GC03P049421', 'score': 0.07}]
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 GH03I049484 49484271 49486201 1.28 [{'connected_gene': 'AMT', 'score': 63.1}, {'connected_gene': 'ENSG00000235236', 'score': 48.05}, {'connected_gene': 'ENSG00000230454', 'score': 33.13}, {'connected_gene': 'RBM6', 'score': 32.93}, {'connected_gene': 'QRICH1', 'score': 30.62}, {'connected_gene': 'RBM5', 'score': 29.31}, {'connected_gene': 'WDR6', 'score': 28.42}, {'connected_gene': 'IP6K2', 'score': 27.39}, {'connected_gene': 'ENSG00000223343', 'score': 22.26}, {'connected_gene': 'BSN-AS2', 'score': 20.73}, {'connected_gene': 'P4HTM', 'score': 19.28}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.62}, {'connected_gene': 'USP19', 'score': 14.02}, {'connected_gene': 'NICN1', 'score': 12.15}, {'connected_gene': 'FAM212A', 'score': 11.78}, {'connected_gene': 'DALRD3', 'score': 11.2}, {'connected_gene': 'NAT6', 'score': 11.0}, {'connected_gene': 'RHOA-IT1', 'score': 10.85}, {'connected_gene': 'TMEM115', 'score': 10.58}, {'connected_gene': 'BSN', 'score': 10.53}, {'connected_gene': 'BSN-AS1', 'score': 10.43}, {'connected_gene': 'CDHR4', 'score': 3.62}, {'connected_gene': 'DAG1', 'score': 0.37}, {'connected_gene': 'PIR41851', 'score': 0.25}, {'connected_gene': 'GC03P049421', 'score': 0.21}]
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 GH03I049669 49669182 49669457 0.38 [{'connected_gene': 'BSN-AS1', 'score': 10.98}, {'connected_gene': 'BSN', 'score': 10.82}, {'connected_gene': 'BSN-AS2', 'score': 10.82}, {'connected_gene': 'CDHR4', 'score': 10.46}, {'connected_gene': 'GMPPB', 'score': 9.09}, {'connected_gene': 'AMT', 'score': 8.99}, {'connected_gene': 'APEH', 'score': 8.38}, {'connected_gene': 'PIR32155', 'score': 0.44}, {'connected_gene': 'GC03P049421', 'score': 0.07}]
chr3 GH03I049666 49666093 49666920 0.83 [{'connected_gene': 'BSN-AS1', 'score': 12.12}, {'connected_gene': 'BSN', 'score': 11.92}, {'connected_gene': 'BSN-AS2', 'score': 11.45}, {'connected_gene': 'CDHR4', 'score': 10.08}, {'connected_gene': 'AMT', 'score': 9.05}, {'connected_gene': 'PIR32155', 'score': 0.77}, {'connected_gene': 'APEH', 'score': 0.44}, {'connected_gene': 'GC03P049421', 'score': 0.07}]
chr3 GH03I049972 49972617 49974057 0.38 [{'connected_gene': 'RBM6', 'score': 54.22}, {'connected_gene': 'MON1A', 'score': 11.85}, {'connected_gene': 'IP6K1', 'score': 10.41}, {'connected_gene': 'PHF5EP', 'score': 10.4}, {'connected_gene': 'SEMA3F', 'score': 9.87}, {'connected_gene': 'SEMA3F-AS1', 'score': 9.87}, {'connected_gene': 'CDHR4', 'score': 8.04}, {'connected_gene': 'RBM5', 'score': 0.13}, {'connected_gene': 'GC03P049762', 'score': 0.08}, {'connected_gene': 'GC03P049763', 'score': 0.08}]
chr3 GH03I049880 49880428 49882697 0.62 [{'connected_gene': 'RBM6', 'score': 4.81}, {'connected_gene': 'CDHR4', 'score': 4.7}, {'connected_gene': 'ACTBP13', 'score': 0.77}, {'connected_gene': 'LOC102724438', 'score': 0.37}, {'connected_gene': 'GC03P049763', 'score': 0.13}, {'connected_gene': 'GC03P049762', 'score': 0.13}, {'connected_gene': 'GC03P049421', 'score': 0.04}]
chr3 GH03I050138 50138204 50140312 0.99 [{'connected_gene': 'RBM6', 'score': 27.19}, {'connected_gene': 'CDHR4', 'score': 8.75}, {'connected_gene': 'SEMA3F-AS1', 'score': 0.37}, {'connected_gene': 'SEMA3F', 'score': 0.37}, {'connected_gene': 'RBM5-AS1', 'score': 0.28}]
chr3 GH03I048983 48983260 48985106 0.49 [{'connected_gene': 'PIR44461', 'score': 550.77}, {'connected_gene': 'GC03P048984', 'score': 550.77}, {'connected_gene': 'PIR48886', 'score': 550.77}, {'connected_gene': 'GC03M048984', 'score': 550.77}, {'connected_gene': 'PIR43399', 'score': 550.77}, {'connected_gene': 'PIR55181', 'score': 550.77}, {'connected_gene': 'ENSG00000235236', 'score': 550.77}, {'connected_gene': 'PIR57365', 'score': 550.77}, {'connected_gene': 'PIR42157', 'score': 550.77}, {'connected_gene': 'PIR32944', 'score': 550.77}, {'connected_gene': 'CDHR4', 'score': 5.15}, {'connected_gene': 'ENSG00000223343', 'score': 0.44}, {'connected_gene': 'ARIH2', 'score': 0.2}]
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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