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
ENST00000321599 [[49761726, 49765088], [49765535, 49765711], [49770223, 49770405], [49775644, 49775855], [49785250, 49785601], [49823786, 49823960]] [[49764554, 49765088], [49765535, 49765711], [49770223, 49770405], [49775644, 49775855], [49785250, 49785473]]
ENST00000395238 [[49761727, 49765088], [49765535, 49765711], [49770223, 49770405], [49775644, 49775855], [49823786, 49823973]] [[49764554, 49765088], [49765535, 49765711], [49770223, 49770344]]
ENST00000468463 [[49764345, 49765053], [49765535, 49765711], [49770223, 49770405], [49775644, 49775855], [49785250, 49785601], [49823786, 49823973]] [[49765020, 49765053], [49765535, 49765711], [49770223, 49770405], [49775644, 49775855], [49785250, 49785473]]
ENST00000460540 [[49764460, 49765088], [49765535, 49765711], [49770223, 49770405], [49775644, 49775855], [49823912, 49823975]] [[49764554, 49765088], [49765535, 49765711], [49770223, 49770344]]
ENST00000498149 [[49785444, 49785601], [49823102, 49823632]] None
ENST00000495798 [[49764841, 49765088], [49765535, 49765829]] None
ENST00000479464 [[49775704, 49775855], [49785250, 49785601], [49786301, 49786361]] None
ENST00000495152 [[49822912, 49822933], [49823102, 49823627]] None
NM_001242829 [[49761727, 49765088], [49765535, 49765711], [49770223, 49770405], [49775644, 49775855], [49785250, 49785601], [49823102, 49823627]] [[49764554, 49765088], [49765535, 49765711], [49770223, 49770405], [49775644, 49775855], [49785250, 49785473]]
NM_153273 [[49761727, 49765088], [49765535, 49765711], [49770223, 49770405], [49775644, 49775855], [49785250, 49785601], [49823786, 49823973]] [[49764554, 49765088], [49765535, 49765711], [49770223, 49770405], [49775644, 49775855], [49785250, 49785473]]
NM_001006115 [[49761727, 49765088], [49765535, 49765711], [49770223, 49770405], [49775644, 49775855], [49823786, 49823973]] [[49764554, 49765088], [49765535, 49765711], [49770223, 49770344]]
Promoter
Chrom Start End Description
chr3 49823663 49823681 CAGE_peak_2_at_IP6K1_5end
chr3 49823941 49823990 CAGE_peak_1_at_IP6K1_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 GH03I049783 49783391 49783450 0.5 [{'connected_gene': 'IP6K1', 'score': 550.77}, {'connected_gene': 'GC03P049775', 'score': 0.44}, {'connected_gene': 'GC03P049763', 'score': 0.34}, {'connected_gene': 'GC03P049762', '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 GH03I050003 50003306 50003417 0.26 [{'connected_gene': 'MON1A', 'score': 10.96}, {'connected_gene': 'RBM6', 'score': 10.95}, {'connected_gene': 'RBM5', 'score': 10.79}, {'connected_gene': 'IP6K1', 'score': 10.33}, {'connected_gene': 'PHF5EP', 'score': 10.32}, {'connected_gene': 'SEMA3B', 'score': 5.08}, {'connected_gene': 'GC03P049762', 'score': 0.07}, {'connected_gene': 'GC03P049763', 'score': 0.07}]
chr3 GH03I050192 50192274 50196569 1.21 [{'connected_gene': 'HYAL3', 'score': 21.62}, {'connected_gene': 'RBM6', 'score': 20.73}, {'connected_gene': 'GNAI2', 'score': 13.03}, {'connected_gene': 'SEMA3F-AS1', 'score': 12.11}, {'connected_gene': 'SEMA3F', 'score': 12.11}, {'connected_gene': 'SEMA3B-AS1', 'score': 12.06}, {'connected_gene': 'SEMA3B', 'score': 12.06}, {'connected_gene': 'LSMEM2', 'score': 12.05}, {'connected_gene': 'HYAL1', 'score': 11.69}, {'connected_gene': 'IFRD2', 'score': 11.21}, {'connected_gene': 'RBM5', 'score': 10.65}, {'connected_gene': 'IP6K1', 'score': 9.88}, {'connected_gene': 'PHF5EP', 'score': 9.88}, {'connected_gene': 'MON1A', 'score': 9.45}, {'connected_gene': 'GNAT1', 'score': 0.77}, {'connected_gene': 'SLC38A3', 'score': 0.39}]
chr3 GH03I049869 49868148 49868297 0.57 [{'connected_gene': 'CAMKV', 'score': 550.77}, {'connected_gene': 'ENSG00000230698', 'score': 12.73}, {'connected_gene': 'MST1R', 'score': 12.71}, {'connected_gene': 'ENSG00000228008', 'score': 12.71}, {'connected_gene': 'IP6K1', 'score': 11.34}, {'connected_gene': 'PHF5EP', 'score': 11.32}, {'connected_gene': 'RN7SL217P', 'score': 0.77}, {'connected_gene': 'GC03P049762', 'score': 0.14}, {'connected_gene': 'GC03P049763', 'score': 0.14}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3 GH03I049868 49868401 49870391 1.44 [{'connected_gene': 'CAMKV', 'score': 550.77}, {'connected_gene': 'RBM6', 'score': 41.03}, {'connected_gene': 'ENSG00000230698', 'score': 12.74}, {'connected_gene': 'MST1R', 'score': 12.73}, {'connected_gene': 'ENSG00000228008', 'score': 12.73}, {'connected_gene': 'IP6K1', 'score': 11.34}, {'connected_gene': 'PHF5EP', 'score': 11.32}, {'connected_gene': 'RN7SL217P', 'score': 0.44}, {'connected_gene': 'GC03P049762', 'score': 0.14}, {'connected_gene': 'GC03P049763', 'score': 0.14}, {'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 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 GH03I049016 49016871 49023650 2.31 [{'connected_gene': 'DALRD3', 'score': 560.51}, {'connected_gene': 'GC03M049024', 'score': 550.77}, {'connected_gene': 'NDUFAF3', 'score': 550.77}, {'connected_gene': 'MIR425', 'score': 550.77}, {'connected_gene': 'MIR191', 'score': 550.77}, {'connected_gene': 'WDR6', 'score': 70.97}, {'connected_gene': 'ENSG00000235236', 'score': 54.16}, {'connected_gene': 'NICN1', 'score': 50.24}, {'connected_gene': 'ENSG00000223343', 'score': 41.28}, {'connected_gene': 'P4HTM', 'score': 40.21}, {'connected_gene': 'AMT', 'score': 39.47}, {'connected_gene': 'FCF1P2', 'score': 36.49}, {'connected_gene': 'QRICH1', 'score': 35.58}, {'connected_gene': 'RBM6', 'score': 33.32}, {'connected_gene': 'ZNF589', 'score': 31.51}, {'connected_gene': 'ATRIP', 'score': 27.01}, {'connected_gene': 'CCDC71', 'score': 20.54}, {'connected_gene': 'IP6K2', 'score': 13.52}, {'connected_gene': 'USP19', 'score': 12.5}, {'connected_gene': 'NME6', 'score': 11.81}, {'connected_gene': 'MRPS18AP1', 'score': 11.62}, {'connected_gene': 'ARIH2', 'score': 11.39}, {'connected_gene': 'QARS', 'score': 11.24}, {'connected_gene': 'ARIH2OS', 'score': 11.2}, {'connected_gene': 'TMEM89', 'score': 11.08}, {'connected_gene': 'ENSG00000271973', 'score': 10.17}, {'connected_gene': 'TRAIP', 'score': 9.95}, {'connected_gene': 'IP6K1', 'score': 9.66}, {'connected_gene': 'MST1', 'score': 4.47}]
chr3 GH03I049781 49781219 49782092 0.49 [{'connected_gene': 'FAM212A', 'score': 23.52}, {'connected_gene': 'IP6K1', 'score': 0.77}, {'connected_gene': 'GC03P049775', 'score': 0.44}, {'connected_gene': 'GC03P049763', 'score': 0.37}, {'connected_gene': 'GC03P049762', 'score': 0.37}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3 GH03I049747 49747458 49749338 0.66 [{'connected_gene': 'FAM212A', 'score': 23.41}, {'connected_gene': 'PHF5EP', 'score': 12.44}, {'connected_gene': 'IP6K1', 'score': 12.41}, {'connected_gene': 'GMPPB', 'score': 12.2}, {'connected_gene': 'AMIGO3', 'score': 12.18}, {'connected_gene': 'RNF123', 'score': 12.09}, {'connected_gene': 'BSN-AS1', 'score': 10.23}, {'connected_gene': 'BSN', 'score': 10.17}, {'connected_gene': 'BSN-AS2', 'score': 9.87}, {'connected_gene': 'COX6CP14', 'score': 0.39}, {'connected_gene': 'GC03M049738', 'score': 0.34}, {'connected_gene': 'PIR40022', 'score': 0.34}, {'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 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 GH03I050227 50226600 50231400 2.73 [{'connected_gene': 'GNAI2', 'score': 556.1}, {'connected_gene': 'MIR5787', 'score': 550.77}, {'connected_gene': 'HYAL3', 'score': 16.02}, {'connected_gene': 'RBM6', 'score': 15.06}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.66}, {'connected_gene': 'RBM5', 'score': 14.41}, {'connected_gene': 'SEMA3B-AS1', 'score': 12.44}, {'connected_gene': 'SEMA3B', 'score': 12.44}, {'connected_gene': 'LSMEM2', 'score': 12.41}, {'connected_gene': 'TMEM115', 'score': 11.9}, {'connected_gene': 'IFRD2', 'score': 11.41}, {'connected_gene': 'RASSF1', 'score': 9.97}, {'connected_gene': 'HEMK1', 'score': 9.76}, {'connected_gene': 'CYB561D2', 'score': 5.94}, {'connected_gene': 'IP6K1', 'score': 5.2}, {'connected_gene': 'TUSC2', 'score': 1.28}, {'connected_gene': 'ENSG00000213600', 'score': 0.39}]
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 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 GH03I049968 49968468 49968617 0.2 [{'connected_gene': 'RBM6', 'score': 11.9}, {'connected_gene': 'MON1A', 'score': 11.87}, {'connected_gene': 'IP6K1', 'score': 10.41}, {'connected_gene': 'PHF5EP', 'score': 10.4}, {'connected_gene': 'SEMA3F-AS1', 'score': 9.87}, {'connected_gene': 'SEMA3F', 'score': 9.87}, {'connected_gene': 'RBM5', 'score': 0.13}, {'connected_gene': 'GC03P049763', 'score': 0.08}, {'connected_gene': 'GC03P049762', 'score': 0.08}]
chr3 GH03I049726 49726648 49727778 0.63 [{'connected_gene': 'PIR58688', 'score': 550.77}, {'connected_gene': 'PIR57159', 'score': 550.77}, {'connected_gene': 'PIR59970', 'score': 550.77}, {'connected_gene': 'GC03M049735', 'score': 550.77}, {'connected_gene': 'GC03M049731', 'score': 550.77}, {'connected_gene': 'GC03M049738', 'score': 550.77}, {'connected_gene': 'PIR51040', 'score': 550.77}, {'connected_gene': 'GC03M049732', 'score': 550.77}, {'connected_gene': 'PIR40022', 'score': 550.77}, {'connected_gene': 'PHF5EP', 'score': 11.82}, {'connected_gene': 'IP6K1', 'score': 11.79}, {'connected_gene': 'TRAIP', 'score': 10.4}, {'connected_gene': 'COX6CP14', 'score': 0.29}, {'connected_gene': 'GC03P049421', 'score': 0.06}]
chr3 GH03I049867 49867868 49868077 0.63 [{'connected_gene': 'ENSG00000230698', 'score': 12.73}, {'connected_gene': 'MST1R', 'score': 12.71}, {'connected_gene': 'ENSG00000228008', 'score': 12.71}, {'connected_gene': 'IP6K1', 'score': 11.34}, {'connected_gene': 'PHF5EP', 'score': 11.32}, {'connected_gene': 'RN7SL217P', 'score': 0.77}, {'connected_gene': 'CAMKV', 'score': 0.77}, {'connected_gene': 'GC03P049762', 'score': 0.14}, {'connected_gene': 'GC03P049763', 'score': 0.14}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3 GH03I049721 49721967 49726179 2.2 [{'connected_gene': 'PIR59970', 'score': 550.77}, {'connected_gene': 'GC03M049731', 'score': 550.77}, {'connected_gene': 'GC03P049723', 'score': 550.77}, {'connected_gene': 'GMPPB', 'score': 550.77}, {'connected_gene': 'PIR51040', 'score': 550.77}, {'connected_gene': 'GC03M049732', 'score': 550.77}, {'connected_gene': 'FAM212A', 'score': 23.36}, {'connected_gene': 'AMT', 'score': 14.82}, {'connected_gene': 'PHF5EP', 'score': 11.8}, {'connected_gene': 'IP6K1', 'score': 11.78}, {'connected_gene': 'TRAIP', 'score': 10.39}, {'connected_gene': 'MST1', 'score': 5.93}, {'connected_gene': 'GC03P049421', 'score': 0.06}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.