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
ENST00000417626 [[50325162, 50325702], [50325839, 50325935], [50326013, 50326142], [50326230, 50326368], [50326685, 50326791], [50326877, 50327059], [50327142, 50327193], [50327359, 50327517], [50327600, 50327725], [50327818, 50327903], [50327990, 50328110], [50329647, 50330026]] [[50325621, 50325702], [50325839, 50325935], [50326013, 50326142], [50326230, 50326368], [50326685, 50326791], [50326877, 50327059], [50327142, 50327193], [50327359, 50327517], [50327600, 50327725], [50327818, 50327903], [50327990, 50328110], [50329647, 50329705]]
ENST00000426499 [[50325173, 50325702], [50325857, 50325935], [50326013, 50326070]] [[50325621, 50325702], [50325857, 50325935], [50326013, 50326070]]
ENST00000436390 [[50325173, 50325702], [50325839, 50325935], [50326013, 50326142], [50326230, 50326368], [50326685, 50326791], [50326877, 50327059], [50327142, 50327193], [50327359, 50327517], [50327600, 50327725], [50327818, 50327903], [50327990, 50328110], [50329647, 50329858], [50329912, 50329971], [50330018, 50330278], [50330323, 50330349]] [[50325621, 50325702], [50325839, 50325935], [50326013, 50326142], [50326230, 50326368], [50326685, 50326791], [50326877, 50327059], [50327142, 50327193], [50327359, 50327517], [50327600, 50327725], [50327818, 50327903], [50327990, 50328110], [50329647, 50329705]]
ENST00000429673 [[50325187, 50325702], [50325839, 50325935], [50326013, 50326142], [50326230, 50326368], [50326685, 50326791], [50326877, 50327059], [50327142, 50327193], [50327359, 50327517], [50327600, 50327725], [50327818, 50327903], [50327990, 50328110], [50329647, 50329897]] [[50325621, 50325702], [50325839, 50325935], [50326013, 50326142], [50326230, 50326368], [50326685, 50326791], [50326877, 50327059], [50327142, 50327193], [50327359, 50327517], [50327600, 50327725], [50327818, 50327903], [50327990, 50328110], [50329647, 50329897]]
ENST00000336089 [[50325187, 50325702], [50325839, 50325935], [50326013, 50326142], [50326230, 50326368], [50326685, 50326791], [50326877, 50327059], [50327142, 50327193], [50327359, 50327517], [50327600, 50327725], [50327818, 50327903], [50327990, 50328110], [50329647, 50329858], [50329912, 50329971], [50330018, 50330278], [50330323, 50330349]] [[50325621, 50325702], [50325839, 50325935], [50326013, 50326142], [50326230, 50326368], [50326685, 50326791], [50326877, 50327059], [50327142, 50327193], [50327359, 50327517], [50327600, 50327725], [50327818, 50327903], [50327990, 50328110], [50329647, 50329858], [50329912, 50329971], [50330018, 50330278], [50330323, 50330349]]
ENST00000474556 [[50325371, 50325702], [50325839, 50325935], [50326013, 50326142], [50326230, 50326368], [50326685, 50326791], [50326877, 50327059], [50327142, 50327193], [50327359, 50327725], [50327818, 50327903], [50327990, 50328110], [50329647, 50329855]] None
ENST00000464258 [[50325561, 50325935], [50326013, 50326142], [50326230, 50326368], [50326685, 50326791], [50326877, 50327032]] None
ENST00000486322 [[50325801, 50325935], [50326013, 50326142], [50326230, 50326491]] None
ENST00000438296 [[50325860, 50325935], [50326013, 50326142], [50326230, 50326368], [50326685, 50326787], [50326877, 50327059], [50327142, 50327193], [50327359, 50327517], [50327600, 50327682]] [[50326747, 50326787], [50326877, 50327059], [50327142, 50327193], [50327359, 50327517], [50327600, 50327682]]
ENST00000492387 [[50325942, 50326142], [50326230, 50326657]] None
ENST00000469855 [[50326093, 50326142], [50326230, 50326694]] None
ENST00000414734 [[50326229, 50326368], [50326685, 50326791], [50326877, 50327193], [50327359, 50327517], [50327600, 50327725], [50327990, 50328110], [50329647, 50329820]] [[50327678, 50327725], [50327990, 50328110], [50329647, 50329705]]
ENST00000483071 [[50326638, 50326791], [50326877, 50327059], [50327142, 50327501]] None
ENST00000489569 [[50326678, 50326791], [50327142, 50327193], [50327359, 50327517], [50327600, 50328110], [50329647, 50329851]] None
ENST00000484043 [[50327436, 50327517], [50327600, 50327725], [50327818, 50327903], [50327990, 50328110], [50329277, 50329480]] None
ENST00000462001 [[50327439, 50328110], [50329647, 50329867]] None
ENST00000468737 [[50327611, 50327725], [50327818, 50327903], [50327990, 50328110], [50329200, 50329487]] None
NM_006764 [[50325162, 50325702], [50325839, 50325935], [50326013, 50326142], [50326230, 50326368], [50326685, 50326791], [50326877, 50327059], [50327142, 50327193], [50327359, 50327517], [50327600, 50327725], [50327818, 50327903], [50327990, 50328110], [50329647, 50330026]] [[50325621, 50325702], [50325839, 50325935], [50326013, 50326142], [50326230, 50326368], [50326685, 50326791], [50326877, 50327059], [50327142, 50327193], [50327359, 50327517], [50327600, 50327725], [50327818, 50327903], [50327990, 50328110], [50329647, 50329897]]
Promoter
Chrom Start End Description
chr3 50329686 50329693 CAGE_peak_5_at_IFRD2_5end
chr3 50329702 50329717 CAGE_peak_3_at_IFRD2_5end
chr3 50329767 50329778 CAGE_peak_4_at_IFRD2_5end
chr3 50329783 50329824 CAGE_peak_2_at_IFRD2_5end
chr3 50329835 50329873 CAGE_peak_1_at_IFRD2_5end
chr3 50329990 50329999 CAGE_peak_10_at_IFRD2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH03I050257 50257835 50277167 2.77 [{'connected_gene': 'SEMA3B', 'score': 552.55}, {'connected_gene': 'SEMA3B-AS1', 'score': 550.77}, {'connected_gene': 'HYAL3', 'score': 35.46}, {'connected_gene': 'CYB561D2', 'score': 14.99}, {'connected_gene': 'IFRD2', 'score': 13.16}, {'connected_gene': 'GNAI2', 'score': 12.56}, {'connected_gene': 'AMT', 'score': 9.17}, {'connected_gene': 'HYAL1', 'score': 8.54}, {'connected_gene': 'AMIGO3', 'score': 4.76}, {'connected_gene': 'DOCK3', 'score': 3.69}, {'connected_gene': 'PIR52045', 'score': 0.44}, {'connected_gene': 'ENSG00000230454', 'score': 0.44}, {'connected_gene': 'MIR6872', 'score': 0.44}]
chr3 GH03I050290 50290320 50293849 2.05 [{'connected_gene': 'IFRD2', 'score': 550.77}, {'connected_gene': 'HYAL3', 'score': 17.97}, {'connected_gene': 'CYB561D2', 'score': 11.6}, {'connected_gene': 'HYAL1', 'score': 8.62}, {'connected_gene': 'PIR42147', 'score': 0.44}]
chr3 GH03I050154 50154448 50173170 2.73 [{'connected_gene': 'SEMA3F', 'score': 560.53}, {'connected_gene': 'RBM6', 'score': 30.9}, {'connected_gene': 'RBM5', 'score': 15.13}, {'connected_gene': 'MON1A', 'score': 14.05}, {'connected_gene': 'GNAI2', 'score': 13.23}, {'connected_gene': 'HYAL3', 'score': 12.49}, {'connected_gene': 'CYB561D2', 'score': 10.14}, {'connected_gene': 'CCDC36', 'score': 6.35}, {'connected_gene': 'MAPKAPK3', 'score': 6.18}, {'connected_gene': 'KLHDC8B', 'score': 5.35}, {'connected_gene': 'DOCK3', 'score': 4.3}, {'connected_gene': 'IFRD2', 'score': 4.12}, {'connected_gene': 'HYAL2', 'score': 3.99}, {'connected_gene': 'TUSC2', 'score': 2.74}, {'connected_gene': 'MST1R', 'score': 2.4}, {'connected_gene': 'FAM212A', 'score': 2.21}, {'connected_gene': 'GMPPB', 'score': 1.37}, {'connected_gene': 'SEMA3F-AS1', 'score': 0.44}, {'connected_gene': 'GC03P050173', 'score': 0.44}]
chr3 GH03I050182 50182343 50186025 0.6 [{'connected_gene': 'SEMA3F', 'score': 12.49}, {'connected_gene': 'SEMA3F-AS1', 'score': 12.49}, {'connected_gene': 'GNAI2', 'score': 11.72}, {'connected_gene': 'SEMA3B-AS1', 'score': 11.6}, {'connected_gene': 'SEMA3B', 'score': 11.6}, {'connected_gene': 'LSMEM2', 'score': 11.58}, {'connected_gene': 'IFRD2', 'score': 11.47}, {'connected_gene': 'HYAL3', 'score': 11.46}, {'connected_gene': 'RBM6', 'score': 10.98}, {'connected_gene': 'HYAL1', 'score': 8.07}, {'connected_gene': 'GC03P050187', 'score': 0.77}, {'connected_gene': 'GC03P050190', 'score': 0.77}, {'connected_gene': 'MIR566', 'score': 0.39}]
chr3 GH03I049898 49898118 49907283 2.09 [{'connected_gene': 'MST1R', 'score': 559.86}, {'connected_gene': 'GC03P049904', 'score': 550.77}, {'connected_gene': 'ENSG00000228008', 'score': 550.77}, {'connected_gene': 'RBM6', 'score': 45.84}, {'connected_gene': 'GMPPB', 'score': 6.98}, {'connected_gene': 'IFRD2', 'score': 3.88}, {'connected_gene': 'SEMA3F', 'score': 3.25}, {'connected_gene': 'MON1A', 'score': 2.83}, {'connected_gene': 'APEH', 'score': 2.78}, {'connected_gene': 'TUSC2', 'score': 1.82}, {'connected_gene': 'FAM212A', 'score': 1.41}, {'connected_gene': 'ENSG00000230698', 'score': 0.77}, {'connected_gene': 'LOC102724438', 'score': 0.77}, {'connected_gene': 'GC03P049762', 'score': 0.12}, {'connected_gene': 'GC03P049763', 'score': 0.12}, {'connected_gene': 'GC03P049421', 'score': 0.04}]
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 GH03I050332 50332973 50342370 2.48 [{'connected_gene': 'RASSF1', 'score': 562.92}, {'connected_gene': 'RASSF1-AS1', 'score': 550.77}, {'connected_gene': 'HYAL3', 'score': 39.23}, {'connected_gene': 'CYB561D2', 'score': 21.55}, {'connected_gene': 'RBM6', 'score': 17.0}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.76}, {'connected_gene': 'NICN1', 'score': 14.15}, {'connected_gene': 'RBM5', 'score': 13.8}, {'connected_gene': 'RHOA-IT1', 'score': 13.55}, {'connected_gene': 'TMEM115', 'score': 13.19}, {'connected_gene': 'IFRD2', 'score': 10.98}, {'connected_gene': 'LSMEM2', 'score': 10.94}, {'connected_gene': 'HEMK1', 'score': 9.72}, {'connected_gene': 'HYAL1', 'score': 8.59}, {'connected_gene': 'SEMA3F', 'score': 4.45}, {'connected_gene': 'ENSG00000230454', 'score': 3.99}, {'connected_gene': 'SEMA3B', 'score': 2.05}, {'connected_gene': 'GC03P050334', 'score': 0.77}, {'connected_gene': 'ZMYND10-AS1', 'score': 0.77}, {'connected_gene': 'ZMYND10', 'score': 0.44}]
chr3 GH03I050179 50179584 50180402 0.72 [{'connected_gene': 'RBM6', 'score': 20.88}, {'connected_gene': 'HYAL3', 'score': 17.64}, {'connected_gene': 'SEMA3F', 'score': 12.52}, {'connected_gene': 'SEMA3F-AS1', 'score': 12.52}, {'connected_gene': 'GNAI2', 'score': 11.97}, {'connected_gene': 'LSMEM2', 'score': 11.48}, {'connected_gene': 'IFRD2', 'score': 11.46}, {'connected_gene': 'SEMA3B-AS1', 'score': 11.31}, {'connected_gene': 'SEMA3B', 'score': 11.31}, {'connected_gene': 'MIR566', 'score': 0.44}, {'connected_gene': 'GC03P050187', 'score': 0.44}, {'connected_gene': 'GC03P050190', 'score': 0.44}]
chr3 GH03I050188 50188868 50190037 1 [{'connected_gene': 'GC03P050187', 'score': 550.77}, {'connected_gene': 'GC03P050190', 'score': 550.77}, {'connected_gene': 'GNAI2', 'score': 12.78}, {'connected_gene': 'SEMA3F', 'score': 12.49}, {'connected_gene': 'SEMA3F-AS1', 'score': 12.49}, {'connected_gene': 'SEMA3B-AS1', 'score': 11.75}, {'connected_gene': 'SEMA3B', 'score': 11.75}, {'connected_gene': 'LSMEM2', 'score': 11.74}, {'connected_gene': 'IFRD2', 'score': 11.2}, {'connected_gene': 'HYAL3', 'score': 11.18}, {'connected_gene': 'MON1A', 'score': 9.56}, {'connected_gene': 'RBM6', 'score': 9.55}, {'connected_gene': 'GC03P050192', 'score': 0.77}, {'connected_gene': 'GC03P050191', 'score': 0.77}]

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