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
ENST00000359626 [[66461801, 66461969], [66463051, 66463182], [66463803, 66463941], [66474569, 66474671], [66479353, 66479548], [66482839, 66483130], [66489886, 66490009], [66514935, 66515053], [66520821, 66520874], [66532271, 66532390], [66548416, 66548526], [66563527, 66563705], [66582469, 66582605], [66648112, 66648223], [66660156, 66660324], [66703294, 66704501]] [[66461965, 66461969], [66463051, 66463182], [66463803, 66463941], [66474569, 66474671], [66479353, 66479548], [66482839, 66483130], [66489886, 66490009], [66514935, 66515053], [66520821, 66520874], [66532271, 66532390], [66548416, 66548526], [66563527, 66563705], [66582469, 66582605], [66648112, 66648223], [66660156, 66660324], [66703294, 66703516]]
ENST00000361660 [[66461839, 66461969], [66463051, 66463182], [66463803, 66463941], [66474569, 66474671], [66479353, 66479548], [66482839, 66483130], [66489886, 66490009], [66514935, 66515053], [66532271, 66532390], [66548416, 66548526], [66563527, 66563705], [66582469, 66582605], [66648112, 66648223], [66660156, 66660324], [66703294, 66704499]] [[66461965, 66461969], [66463051, 66463182], [66463803, 66463941], [66474569, 66474671], [66479353, 66479548], [66482839, 66483130], [66489886, 66490009], [66514935, 66515053], [66532271, 66532324]]
ENST00000495971 [[66532124, 66532390], [66548416, 66548526], [66563527, 66563705], [66582469, 66582605], [66648112, 66648223], [66660156, 66660324], [66703294, 66703627]] None
ENST00000491969 [[66460159, 66460484], [66463051, 66463182], [66463803, 66463842]] None
ENST00000442959 [[66461806, 66461969], [66463051, 66463182], [66463803, 66463941], [66474569, 66474671], [66482839, 66482868]] [[66461965, 66461969], [66463051, 66463182], [66463803, 66463941], [66474569, 66474671], [66482839, 66482868]]
ENST00000475392 [[66461831, 66461969], [66463051, 66463182], [66463803, 66463941], [66474569, 66474736]] None
NR_134540 [[66461791, 66461969], [66463051, 66463182], [66463803, 66463941], [66474569, 66474671], [66479353, 66479548], [66482839, 66483130], [66489886, 66490009], [66514935, 66515053], [66532271, 66532390], [66548416, 66548526], [66563527, 66563705], [66582469, 66582605], [66648112, 66648223], [66660156, 66660324], [66703294, 66704501]] None
NM_018264 [[66461791, 66461969], [66463051, 66463182], [66463803, 66463941], [66474569, 66474671], [66479353, 66479548], [66482839, 66483130], [66489886, 66490009], [66514935, 66515053], [66520821, 66520874], [66532271, 66532390], [66548416, 66548526], [66563527, 66563705], [66582469, 66582605], [66648112, 66648223], [66660156, 66660324], [66703294, 66704507]] [[66461965, 66461969], [66463051, 66463182], [66463803, 66463941], [66474569, 66474671], [66479353, 66479548], [66482839, 66483130], [66489886, 66490009], [66514935, 66515053], [66520821, 66520874], [66532271, 66532390], [66548416, 66548526], [66563527, 66563705], [66582469, 66582605], [66648112, 66648223], [66660156, 66660324], [66703294, 66703516]]
Promoter
Chrom Start End Description
chr7 66459921 66459951 CAGE_peak_3_at_TYW1_5end,CAGE_peak_5_at_TYW1B_5end
chr7 66461798 66461846 CAGE_peak_1_at_TYW1B_5end,CAGE_peak_1_at_TYW1_5end
chr7 66461849 66461865 CAGE_peak_2_at_TYW1_5end,CAGE_peak_3_at_TYW1B_5end
chr7 66532116 66532150 CAGE_peak_4_at_TYW1_5end,CAGE_peak_6_at_TYW1B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I067022 67022694 67022723 0.2 [{'connected_gene': 'STAG3L4', 'score': 10.97}, {'connected_gene': 'TYW1', 'score': 0.31}, {'connected_gene': 'SBDS', 'score': 0.31}, {'connected_gene': 'ENSG00000233383', 'score': 0.2}]
chr7 GH07I067035 67035681 67037398 0.69 [{'connected_gene': 'STAG3L4', 'score': 11.26}, {'connected_gene': 'TYW1', 'score': 10.56}, {'connected_gene': 'LOC100996437', 'score': 4.25}, {'connected_gene': 'SBDS', 'score': 0.26}, {'connected_gene': 'ENSG00000233383', 'score': 0.23}]
chr7 GH07I067024 67024819 67026423 0.6 [{'connected_gene': 'STAG3L4', 'score': 11.05}, {'connected_gene': 'PMS2P4', 'score': 7.3}, {'connected_gene': 'TYW1', 'score': 0.29}, {'connected_gene': 'SBDS', 'score': 0.29}, {'connected_gene': 'ENSG00000233383', 'score': 0.21}]
chr7 GH07I067301 67301381 67303964 1.55 [{'connected_gene': 'STAG3L4', 'score': 569.6}, {'connected_gene': 'PMS2P4', 'score': 556.06}, {'connected_gene': 'TYW1', 'score': 23.6}, {'connected_gene': 'ENSG00000273448', 'score': 10.86}, {'connected_gene': 'RABGEF1', 'score': 8.95}, {'connected_gene': 'GS1-124K5.4', 'score': 3.74}]
chr7 GH07I067223 67223204 67224539 0.46 [{'connected_gene': 'TYW1', 'score': 33.65}, {'connected_gene': 'STAG3L4', 'score': 12.06}, {'connected_gene': 'PMS2P4', 'score': 8.08}, {'connected_gene': 'GC07P067259', 'score': 0.29}, {'connected_gene': 'MIR4650-1', 'score': 0.14}]
chr7 GH07I067102 67102989 67106440 1.09 [{'connected_gene': 'TYW1', 'score': 37.16}, {'connected_gene': 'STAG3L4', 'score': 16.03}, {'connected_gene': 'RABGEF1', 'score': 14.05}, {'connected_gene': 'MIR4650-1', 'score': 0.44}, {'connected_gene': 'ENSG00000233383', 'score': 0.37}]
chr7 GH07I067162 67162898 67164123 0.52 [{'connected_gene': 'TYW1', 'score': 30.65}, {'connected_gene': 'STAG3L4', 'score': 15.59}, {'connected_gene': 'MIR4650-1', 'score': 0.25}, {'connected_gene': 'GC07P067259', 'score': 0.16}]
chr7 GH07I066993 66993555 66998001 2.28 [{'connected_gene': 'TYW1', 'score': 557.07}, {'connected_gene': 'SBDS', 'score': 550.77}, {'connected_gene': 'ENSG00000229180', 'score': 42.95}, {'connected_gene': 'LOC100420547', 'score': 32.31}, {'connected_gene': 'ENSG00000244657', 'score': 28.96}, {'connected_gene': 'SPDYE21P', 'score': 23.78}, {'connected_gene': 'TMEM248', 'score': 23.17}, {'connected_gene': 'RABGEF1', 'score': 14.66}, {'connected_gene': 'ENSG00000230189', 'score': 11.56}, {'connected_gene': 'STAG3L4', 'score': 11.24}, {'connected_gene': 'PMS2P4', 'score': 9.84}, {'connected_gene': 'GTF2IP9', 'score': 9.66}, {'connected_gene': 'LOC644794', 'score': 7.01}, {'connected_gene': 'LOC100996437', 'score': 6.27}, {'connected_gene': 'LINC00174', 'score': 4.32}, {'connected_gene': 'ENSG00000233383', 'score': 0.16}]
chr7 GH07I067066 67066527 67067668 0.4 [{'connected_gene': 'TYW1', 'score': 21.93}, {'connected_gene': 'ENSG00000233383', 'score': 0.34}, {'connected_gene': 'SBDS', 'score': 0.19}]
chr7 GH07I067127 67127802 67131064 1.7 [{'connected_gene': 'TYW1', 'score': 36.51}, {'connected_gene': 'RABGEF1', 'score': 25.02}, {'connected_gene': 'STAG3L4', 'score': 16.44}, {'connected_gene': 'LOC644794', 'score': 6.75}, {'connected_gene': 'MIR4650-1', 'score': 0.37}, {'connected_gene': 'GC07P067259', 'score': 0.13}]
chr7 GH07I067225 67225954 67226995 1.04 [{'connected_gene': 'TYW1', 'score': 33.53}, {'connected_gene': 'GC07P067259', 'score': 0.29}, {'connected_gene': 'MIR4650-1', 'score': 0.14}]
chr7 GH07I067099 67099929 67101822 1.03 [{'connected_gene': 'TYW1', 'score': 37.35}, {'connected_gene': 'MIR4650-1', 'score': 0.39}, {'connected_gene': 'ENSG00000233383', 'score': 0.39}]
chr7 GH07I067192 67191789 67193936 0.69 [{'connected_gene': 'TYW1', 'score': 35.08}, {'connected_gene': 'GC07P067259', 'score': 0.21}, {'connected_gene': 'MIR4650-1', 'score': 0.18}]
chr7 GH07I067191 67191134 67191283 0.59 [{'connected_gene': 'TYW1', 'score': 33.13}, {'connected_gene': 'GC07P067259', 'score': 0.2}, {'connected_gene': 'MIR4650-1', 'score': 0.18}]
chr7 GH07I067143 67143401 67143800 0.4 [{'connected_gene': 'TYW1', 'score': 34.91}, {'connected_gene': 'MIR4650-1', 'score': 0.31}, {'connected_gene': 'GC07P067259', 'score': 0.14}]
chr7 GH07I067019 67019465 67020228 0.79 [{'connected_gene': 'TYW1', 'score': 28.63}, {'connected_gene': 'LOC100420547', 'score': 20.14}, {'connected_gene': 'ENSG00000229180', 'score': 16.86}, {'connected_gene': 'ENSG00000273448', 'score': 12.56}, {'connected_gene': 'TMEM248', 'score': 12.32}, {'connected_gene': 'SBDS', 'score': 0.34}, {'connected_gene': 'ENSG00000233383', 'score': 0.2}]
chr7 GH07I067041 67041401 67041801 0.71 [{'connected_gene': 'RABGEF1', 'score': 13.32}, {'connected_gene': 'TYW1', 'score': 11.29}, {'connected_gene': 'STAG3L4', 'score': 4.58}, {'connected_gene': 'SBDS', 'score': 0.25}, {'connected_gene': 'ENSG00000233383', 'score': 0.25}]
chr7 GH07I067185 67185800 67186201 0.38 [{'connected_gene': 'RABGEF1', 'score': 13.54}, {'connected_gene': 'MIR4650-1', 'score': 0.19}, {'connected_gene': 'GC07P067259', 'score': 0.19}, {'connected_gene': 'TYW1', 'score': 0.08}]
chr7 GH07I067042 67042285 67044025 1.08 [{'connected_gene': 'LINC01372', 'score': 7.08}, {'connected_gene': 'TYW1', 'score': 0.25}, {'connected_gene': 'SBDS', 'score': 0.25}, {'connected_gene': 'ENSG00000233383', 'score': 0.25}]
chr7 GH07I066653 66653033 66656876 2.06 [{'connected_gene': 'LOC100996437', 'score': 589.6}, {'connected_gene': 'RABGEF1', 'score': 28.7}, {'connected_gene': 'VKORC1L1', 'score': 28.34}, {'connected_gene': 'GS1-124K5.4', 'score': 20.95}, {'connected_gene': 'CRCP', 'score': 17.46}, {'connected_gene': 'KCTD7', 'score': 15.52}, {'connected_gene': 'ENSG00000229180', 'score': 5.94}, {'connected_gene': 'TYW1', 'score': 5.19}, {'connected_gene': 'GC07M066657', 'score': 0.44}]
chr7 GH07I066098 66098593 66101200 1.2 [{'connected_gene': 'LOC100996437', 'score': 30.46}, {'connected_gene': 'LOC100420547', 'score': 29.79}, {'connected_gene': 'VKORC1L1', 'score': 27.6}, {'connected_gene': 'ENSG00000229180', 'score': 27.5}, {'connected_gene': 'TMEM248', 'score': 24.83}, {'connected_gene': 'CCT6P1', 'score': 22.41}, {'connected_gene': 'GUSB', 'score': 21.99}, {'connected_gene': 'GS1-124K5.4', 'score': 20.93}, {'connected_gene': 'TYW1', 'score': 15.93}, {'connected_gene': 'RABGEF1', 'score': 15.62}, {'connected_gene': 'ENSG00000244657', 'score': 12.03}, {'connected_gene': 'ENSG00000230189', 'score': 11.58}, {'connected_gene': 'RPL35P5', 'score': 10.27}, {'connected_gene': 'LOC84214', 'score': 9.77}, {'connected_gene': 'GTF2IP9', 'score': 9.69}, {'connected_gene': 'TPST1', 'score': 4.47}, {'connected_gene': 'ENSG00000249319', 'score': 0.39}, {'connected_gene': 'CRCP', 'score': 0.39}]
chr7 GH07I067114 67114801 67115001 0.84 [{'connected_gene': 'MIR4650-1', 'score': 550.77}, {'connected_gene': 'RABGEF1', 'score': 14.05}, {'connected_gene': 'TYW1', 'score': 0.13}, {'connected_gene': 'GC07P067259', 'score': 0.11}]
chr7 GH07I067359 67359850 67360990 0.8 [{'connected_gene': 'LOC100420547', 'score': 20.14}, {'connected_gene': 'ENSG00000229180', 'score': 16.84}, {'connected_gene': 'STAG3L4', 'score': 16.56}, {'connected_gene': 'TYW1', 'score': 13.04}, {'connected_gene': 'ENSG00000273448', 'score': 12.81}, {'connected_gene': 'TMEM248', 'score': 12.22}, {'connected_gene': 'GC07P067349', 'score': 0.39}, {'connected_gene': 'GC07P067381', 'score': 0.34}]
chr7 GH07I066930 66930394 66930563 0.92 [{'connected_gene': 'LOC100420547', 'score': 17.46}, {'connected_gene': 'ENSG00000229180', 'score': 17.09}, {'connected_gene': 'GUSB', 'score': 14.27}, {'connected_gene': 'TMEM248', 'score': 13.97}, {'connected_gene': 'TYW1', 'score': 12.99}, {'connected_gene': 'ENSG00000244657', 'score': 9.76}, {'connected_gene': 'RN7SL43P', 'score': 0.25}]
chr7 GH07I067089 67089180 67090080 0.4 [{'connected_gene': 'ENSG00000233383', 'score': 550.77}, {'connected_gene': 'STAG3L4', 'score': 11.85}, {'connected_gene': 'MIR4650-1', 'score': 0.34}, {'connected_gene': 'TYW1', 'score': 0.16}]
chr7 GH07I066847 66847657 66849179 0.81 [{'connected_gene': 'ENSG00000232546', 'score': 550.77}, {'connected_gene': 'GTF2IP23', 'score': 550.77}, {'connected_gene': 'GC07P066851', 'score': 550.77}, {'connected_gene': 'GC07P066850', 'score': 550.77}, {'connected_gene': 'PIR38356', 'score': 550.77}, {'connected_gene': 'LOC644794', 'score': 41.02}, {'connected_gene': 'LOC100420547', 'score': 20.16}, {'connected_gene': 'ENSG00000229180', 'score': 16.89}, {'connected_gene': 'RABGEF1', 'score': 15.69}, {'connected_gene': 'TYW1', 'score': 13.1}, {'connected_gene': 'ENSG00000273448', 'score': 12.54}, {'connected_gene': 'TMEM248', 'score': 12.36}, {'connected_gene': 'LINC00174', 'score': 12.06}, {'connected_gene': 'TPST1', 'score': 6.04}, {'connected_gene': 'STAG3L4', 'score': 4.09}]
chr7 GH07I066358 66358491 66361083 0.63 [{'connected_gene': 'PIR44776', 'score': 550.77}, {'connected_gene': 'PIR61242', 'score': 550.77}, {'connected_gene': 'LOC100996437', 'score': 38.32}, {'connected_gene': 'VKORC1L1', 'score': 29.15}, {'connected_gene': 'RABGEF1', 'score': 15.65}, {'connected_gene': 'TPST1', 'score': 11.27}, {'connected_gene': 'TYW1', 'score': 6.64}, {'connected_gene': 'GC07M066363', 'score': 0.44}]
chr7 GH07I066499 66499840 66500732 0.96 [{'connected_gene': 'GC07P066502', 'score': 550.77}, {'connected_gene': 'LOC100996437', 'score': 40.39}, {'connected_gene': 'VKORC1L1', 'score': 29.15}, {'connected_gene': 'LOC100420547', 'score': 20.5}, {'connected_gene': 'ENSG00000229180', 'score': 16.98}, {'connected_gene': 'CCT6P1', 'score': 16.97}, {'connected_gene': 'TYW1', 'score': 13.03}, {'connected_gene': 'ENSG00000273448', 'score': 12.53}, {'connected_gene': 'TMEM248', 'score': 12.22}, {'connected_gene': 'GC07P066497', 'score': 0.77}]
chr7 GH07I067190 67190001 67190200 0.54 [{'connected_gene': 'GC07P067259', 'score': 0.2}, {'connected_gene': 'MIR4650-1', 'score': 0.18}, {'connected_gene': 'TYW1', 'score': 0.08}]

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