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
ENST00000445478 [[74708918, 74712804], [74714814, 74714942], [74716441, 74716580], [74717879, 74718015], [74719853, 74720140], [74721548, 74721937], [74722428, 74722761]] [[74712767, 74712804], [74714814, 74714942], [74716441, 74716580], [74717879, 74718015], [74719853, 74720140], [74721548, 74721937], [74722428, 74722557]]
ENST00000542934 [[74714527, 74714942], [74716441, 74716580], [74717344, 74717438], [74717879, 74718015], [74719853, 74720140], [74721548, 74721937], [74722428, 74722866]] [[74716529, 74716580], [74717344, 74717438], [74717879, 74718015], [74719853, 74720140], [74721548, 74721937], [74722428, 74722557]]
ENST00000303996 [[74714527, 74714942], [74716441, 74716580], [74717344, 74717433], [74717879, 74718015], [74719853, 74720140], [74721548, 74721937], [74722428, 74722866]] [[74717366, 74717433], [74717879, 74718015], [74719853, 74720140], [74721548, 74721937], [74722428, 74722557]]
ENST00000591460 [[74714534, 74714942], [74716441, 74716580], [74717344, 74717464]] None
ENST00000397625 [[74714534, 74714942], [74716441, 74716580], [74717879, 74718015], [74719853, 74720140], [74721548, 74721937], [74722428, 74722672]] [[74714810, 74714942], [74716441, 74716580], [74717879, 74718015], [74719853, 74720140], [74721548, 74721937], [74722428, 74722557]]
ENST00000585429 [[74714581, 74714942], [74717879, 74718015], [74719853, 74720140], [74721548, 74721937], [74722428, 74722585]] [[74714695, 74714942], [74717879, 74718015], [74719853, 74720140], [74721548, 74721937], [74722428, 74722557]]
ENST00000589982 [[74714753, 74714942], [74716441, 74716719]] None
NM_001081461 [[74708913, 74712804], [74714814, 74714942], [74716441, 74716580], [74717879, 74718015], [74719853, 74720140], [74721548, 74721937], [74722428, 74722881]] [[74712767, 74712804], [74714814, 74714942], [74716441, 74716580], [74717879, 74718015], [74719853, 74720140], [74721548, 74721937], [74722428, 74722557]]
NM_015167 [[74714523, 74714942], [74716441, 74716580], [74717879, 74718015], [74719853, 74720140], [74721548, 74721937], [74722428, 74722881]] [[74714810, 74714942], [74716441, 74716580], [74717879, 74718015], [74719853, 74720140], [74721548, 74721937], [74722428, 74722557]]
Promoter
Chrom Start End Description
chr17 74721959 74721969 CAGE_peak_5_at_JMJD6_5end
chr17 74722015 74722058 CAGE_peak_7_at_JMJD6_5end
chr17 74722536 74722639 CAGE_peak_1_at_JMJD6_5end
chr17 74722645 74722669 CAGE_peak_3_at_JMJD6_5end
chr17 74722673 74722718 CAGE_peak_2_at_JMJD6_5end
chr17 74722836 74722850 CAGE_peak_6_at_JMJD6_5end
chr17 74722851 74722871 CAGE_peak_4_at_JMJD6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I076511 76511601 76512200 1.27 [{'connected_gene': 'SPHK1', 'score': 14.42}, {'connected_gene': 'RHBDF2', 'score': 6.99}, {'connected_gene': 'JMJD6', 'score': 5.14}, {'connected_gene': 'GC17M076510', 'score': 0.44}]
chr17 GH17I076377 76377459 76377703 0.79 [{'connected_gene': 'SPHK1', 'score': 575.96}, {'connected_gene': 'GC17P076379', 'score': 550.77}, {'connected_gene': 'JMJD6', 'score': 5.11}, {'connected_gene': 'RHBDF2', 'score': 3.88}, {'connected_gene': 'QRICH2', 'score': 1.86}, {'connected_gene': 'TEN1', 'score': 1.14}, {'connected_gene': 'PRPSAP1', 'score': 0.44}]
chr17 GH17I076513 76513032 76518475 1.54 [{'connected_gene': 'SPHK1', 'score': 12.08}, {'connected_gene': 'JMJD6', 'score': 8.28}, {'connected_gene': 'ENSG00000267543', 'score': 8.07}, {'connected_gene': 'MXRA7', 'score': 5.71}, {'connected_gene': 'RHBDF2', 'score': 4.3}, {'connected_gene': 'QRICH2', 'score': 2.25}, {'connected_gene': 'SRSF2', 'score': 1.77}, {'connected_gene': 'GC17M076510', 'score': 0.44}]
chr17 GH17I076694 76694830 76703200 1.74 [{'connected_gene': 'UNK', 'score': 57.69}, {'connected_gene': 'MXRA7', 'score': 51.84}, {'connected_gene': 'SRSF2', 'score': 41.36}, {'connected_gene': 'ENSG00000266980', 'score': 37.64}, {'connected_gene': 'METTL23', 'score': 34.82}, {'connected_gene': 'MFSD11', 'score': 19.95}, {'connected_gene': 'ENSG00000267546', 'score': 18.45}, {'connected_gene': 'SRP68', 'score': 16.98}, {'connected_gene': 'ENSG00000267342', 'score': 14.45}, {'connected_gene': 'RNU6-227P', 'score': 12.08}, {'connected_gene': 'JMJD6', 'score': 11.8}, {'connected_gene': 'PRCD', 'score': 10.93}, {'connected_gene': 'TRIM65', 'score': 10.64}, {'connected_gene': 'MRPL38', 'score': 9.81}, {'connected_gene': 'CDK3', 'score': 9.75}, {'connected_gene': 'SEPT9', 'score': 9.73}, {'connected_gene': 'GC17M076699', 'score': 0.77}, {'connected_gene': 'GC17M076685', 'score': 0.39}]
chr17 GH17I076497 76497056 76502674 2.58 [{'connected_gene': 'RHBDF2', 'score': 564.73}, {'connected_gene': 'GC17M076496', 'score': 550.77}, {'connected_gene': 'JMJD6', 'score': 16.32}, {'connected_gene': 'ENSG00000267543', 'score': 9.27}, {'connected_gene': 'UBALD2', 'score': 6.22}, {'connected_gene': 'SPHK1', 'score': 3.64}, {'connected_gene': 'ST6GALNAC2', 'score': 1.45}]
chr17 GH17I076772 76772170 76773926 0.82 [{'connected_gene': 'MFSD11', 'score': 11.74}, {'connected_gene': 'SRSF2', 'score': 11.74}, {'connected_gene': 'MIR636', 'score': 11.74}, {'connected_gene': 'JMJD6', 'score': 10.27}, {'connected_gene': 'METTL23', 'score': 10.27}, {'connected_gene': 'UBALD2', 'score': 4.58}, {'connected_gene': 'GC17P076792', 'score': 0.37}, {'connected_gene': 'RNU6-97P', 'score': 0.34}]
chr17 GH17I076599 76599623 76603301 1.18 [{'connected_gene': 'SRSF2', 'score': 28.79}, {'connected_gene': 'UNK', 'score': 28.01}, {'connected_gene': 'ENSG00000267342', 'score': 23.23}, {'connected_gene': 'METTL23', 'score': 20.23}, {'connected_gene': 'TRIM65', 'score': 14.58}, {'connected_gene': 'ENSG00000267801', 'score': 13.2}, {'connected_gene': 'RNU6-227P', 'score': 12.82}, {'connected_gene': 'ENSG00000267546', 'score': 12.57}, {'connected_gene': 'H3F3B', 'score': 12.48}, {'connected_gene': 'ST6GALNAC2', 'score': 12.37}, {'connected_gene': 'SNORD1B', 'score': 12.34}, {'connected_gene': 'SNHG16', 'score': 11.88}, {'connected_gene': 'PRCD', 'score': 11.75}, {'connected_gene': 'CYGB', 'score': 11.61}, {'connected_gene': 'SEPT9', 'score': 11.22}, {'connected_gene': 'SAP30BP', 'score': 11.04}, {'connected_gene': 'UBE2O', 'score': 10.79}, {'connected_gene': 'AANAT', 'score': 10.79}, {'connected_gene': 'JMJD6', 'score': 10.48}, {'connected_gene': 'ENSG00000272386', 'score': 10.45}, {'connected_gene': 'SRP68', 'score': 10.21}, {'connected_gene': 'SPHK1', 'score': 10.15}, {'connected_gene': 'MXRA7', 'score': 9.59}, {'connected_gene': 'GC17M076570', 'score': 0.44}, {'connected_gene': 'ST6GALNAC1', 'score': 0.26}]
chr17 GH17I077114 77114853 77133548 1.76 [{'connected_gene': 'SRSF2', 'score': 32.19}, {'connected_gene': 'SEPT9', 'score': 21.18}, {'connected_gene': 'ENSG00000267546', 'score': 12.98}, {'connected_gene': 'RNU4-47P', 'score': 12.75}, {'connected_gene': 'MFSD11', 'score': 11.41}, {'connected_gene': 'METTL23', 'score': 10.27}, {'connected_gene': 'SEC14L1', 'score': 10.17}, {'connected_gene': 'MGAT5B', 'score': 5.31}, {'connected_gene': 'JMJD6', 'score': 2.85}, {'connected_gene': 'GC17P077120', 'score': 0.77}, {'connected_gene': 'LOC105371900', 'score': 0.77}, {'connected_gene': 'LOC105371901', 'score': 0.37}]
chr17 GH17I077106 77106758 77112646 1.62 [{'connected_gene': 'SEC14L1', 'score': 18.45}, {'connected_gene': 'SRSF2', 'score': 18.32}, {'connected_gene': 'RNU4-47P', 'score': 12.55}, {'connected_gene': 'RHBDF2', 'score': 10.33}, {'connected_gene': 'SEPT9', 'score': 10.27}, {'connected_gene': 'JMJD6', 'score': 5.64}, {'connected_gene': 'QRICH2', 'score': 4.47}, {'connected_gene': 'GC17P077111', 'score': 0.77}, {'connected_gene': 'GC17P077101', 'score': 0.44}, {'connected_gene': 'LOC105371900', 'score': 0.39}]
chr17 GH17I077095 77095036 77100875 1.58 [{'connected_gene': 'SEC14L1', 'score': 26.57}, {'connected_gene': 'RNU4-47P', 'score': 11.92}, {'connected_gene': 'JMJD6', 'score': 6.88}, {'connected_gene': 'SNHG20', 'score': 5.82}, {'connected_gene': 'GC17P077101', 'score': 0.77}, {'connected_gene': 'PIR37121', 'score': 0.77}]
chr17 GH17I076638 76638758 76646556 1.96 [{'connected_gene': 'ST6GALNAC1', 'score': 558.56}, {'connected_gene': 'UNK', 'score': 46.18}, {'connected_gene': 'SRSF2', 'score': 41.2}, {'connected_gene': 'MXRA7', 'score': 34.91}, {'connected_gene': 'METTL23', 'score': 31.33}, {'connected_gene': 'ENSG00000267342', 'score': 26.63}, {'connected_gene': 'SEPT9', 'score': 21.71}, {'connected_gene': 'CDK3', 'score': 19.96}, {'connected_gene': 'SAP30BP', 'score': 19.04}, {'connected_gene': 'ENSG00000266980', 'score': 13.89}, {'connected_gene': 'H3F3B', 'score': 12.48}, {'connected_gene': 'MFSD11', 'score': 12.46}, {'connected_gene': 'JMJD6', 'score': 10.88}, {'connected_gene': 'TRIM65', 'score': 10.74}, {'connected_gene': 'UBE2O', 'score': 10.4}, {'connected_gene': 'AANAT', 'score': 10.4}, {'connected_gene': 'RECQL5', 'score': 10.33}, {'connected_gene': 'RNU6-24P', 'score': 10.22}, {'connected_gene': 'PRPSAP1', 'score': 9.97}, {'connected_gene': 'GC17M076644', 'score': 0.44}, {'connected_gene': 'GC17M076570', 'score': 0.25}]
chr17 GH17I076684 76684735 76686328 0.38 [{'connected_gene': 'MXRA7', 'score': 66.1}, {'connected_gene': 'JMJD6', 'score': 21.12}, {'connected_gene': 'RNU6-227P', 'score': 12.31}, {'connected_gene': 'METTL23', 'score': 11.75}, {'connected_gene': 'GC17M076685', 'score': 0.77}, {'connected_gene': 'GC17M076671', 'score': 0.39}]
chr17 GH17I076690 76690475 76692362 0.86 [{'connected_gene': 'MXRA7', 'score': 57.38}, {'connected_gene': 'METTL23', 'score': 23.36}, {'connected_gene': 'RNU6-227P', 'score': 12.08}, {'connected_gene': 'UNK', 'score': 11.73}, {'connected_gene': 'JMJD6', 'score': 11.63}, {'connected_gene': 'CDK3', 'score': 11.48}, {'connected_gene': 'PRCD', 'score': 11.27}, {'connected_gene': 'CYGB', 'score': 11.2}, {'connected_gene': 'SRSF2', 'score': 10.66}, {'connected_gene': 'UBE2O', 'score': 10.38}, {'connected_gene': 'AANAT', 'score': 10.38}, {'connected_gene': 'RNU6-97P', 'score': 10.13}, {'connected_gene': 'LINC02080', 'score': 5.09}, {'connected_gene': 'GC17M076685', 'score': 0.77}, {'connected_gene': 'GC17M076699', 'score': 0.39}]
chr17 GH17I076692 76692485 76694805 0.49 [{'connected_gene': 'MXRA7', 'score': 21.33}, {'connected_gene': 'RNU6-227P', 'score': 12.09}, {'connected_gene': 'JMJD6', 'score': 11.78}, {'connected_gene': 'METTL23', 'score': 11.78}, {'connected_gene': 'SNORD1B', 'score': 11.71}, {'connected_gene': 'PRCD', 'score': 11.27}, {'connected_gene': 'CYGB', 'score': 11.2}, {'connected_gene': 'RNU6-97P', 'score': 10.87}, {'connected_gene': 'UBE2O', 'score': 10.38}, {'connected_gene': 'AANAT', 'score': 10.38}, {'connected_gene': 'GC17M076685', 'score': 0.44}, {'connected_gene': 'GC17M076699', 'score': 0.44}]
chr17 GH17I076681 76681000 76684668 1.25 [{'connected_gene': 'MXRA7', 'score': 62.16}, {'connected_gene': 'RNU6-227P', 'score': 12.51}, {'connected_gene': 'JMJD6', 'score': 11.75}, {'connected_gene': 'METTL23', 'score': 11.75}, {'connected_gene': 'GC17M076685', 'score': 0.44}, {'connected_gene': 'GC17M076671', 'score': 0.39}]
chr17 GH17I076258 76258181 76277769 2.79 [{'connected_gene': 'UBALD2', 'score': 562.94}, {'connected_gene': 'UNK', 'score': 111.75}, {'connected_gene': 'ENSG00000267342', 'score': 96.95}, {'connected_gene': 'SRSF2', 'score': 93.05}, {'connected_gene': 'TRIM65', 'score': 74.84}, {'connected_gene': 'ENSG00000266980', 'score': 60.77}, {'connected_gene': 'ENSG00000267546', 'score': 52.45}, {'connected_gene': 'METTL23', 'score': 38.79}, {'connected_gene': 'MFSD11', 'score': 37.06}, {'connected_gene': 'EXOC7', 'score': 31.22}, {'connected_gene': 'CDK3', 'score': 30.14}, {'connected_gene': 'RNF157', 'score': 29.63}, {'connected_gene': 'PRPSAP1', 'score': 24.01}, {'connected_gene': 'SAP30BP', 'score': 20.59}, {'connected_gene': 'QRICH2', 'score': 20.14}, {'connected_gene': 'TSEN54', 'score': 19.53}, {'connected_gene': 'MYO15B', 'score': 12.19}, {'connected_gene': 'CASKIN2', 'score': 12.13}, {'connected_gene': 'SNHG20', 'score': 11.89}, {'connected_gene': 'FOXJ1', 'score': 11.73}, {'connected_gene': 'SRP68', 'score': 10.45}, {'connected_gene': 'PRCD', 'score': 10.38}, {'connected_gene': 'ENSG00000267801', 'score': 10.36}, {'connected_gene': 'ENSG00000272386', 'score': 10.28}, {'connected_gene': 'SLC25A19', 'score': 10.05}, {'connected_gene': 'TRIM47', 'score': 9.85}, {'connected_gene': 'MGAT5B', 'score': 9.65}, {'connected_gene': 'ST6GALNAC1', 'score': 4.08}, {'connected_gene': 'SPHK1', 'score': 2.32}, {'connected_gene': 'JMJD6', 'score': 1.71}, {'connected_gene': 'H3F3B', 'score': 1.45}, {'connected_gene': 'RHBDF2', 'score': 1.28}, {'connected_gene': 'LOC105371896', 'score': 0.77}]
chr17 GH17I076747 76747185 76748563 0.38 [{'connected_gene': 'JMJD6', 'score': 11.24}, {'connected_gene': 'METTL23', 'score': 11.24}, {'connected_gene': 'MFSD11', 'score': 5.1}, {'connected_gene': 'MXRA7', 'score': 4.99}, {'connected_gene': 'GC17P076754', 'score': 0.44}, {'connected_gene': 'SRSF2', 'score': 0.39}]
chr17 GH17I076724 76724815 76728468 2.52 [{'connected_gene': 'METTL23', 'score': 552.08}, {'connected_gene': 'JMJD6', 'score': 550.77}, {'connected_gene': 'MXRA7', 'score': 25.82}, {'connected_gene': 'RHBDF2', 'score': 10.37}, {'connected_gene': 'MGAT5B', 'score': 9.75}, {'connected_gene': 'SRSF2', 'score': 4.16}, {'connected_gene': 'MFSD11', 'score': 3.53}, {'connected_gene': 'UBALD2', 'score': 2.13}, {'connected_gene': 'UBE2O', 'score': 1.75}]
chr17 GH17I076250 76250645 76253723 1.68 [{'connected_gene': 'RNF157', 'score': 14.59}, {'connected_gene': 'FOXJ1', 'score': 11.29}, {'connected_gene': 'JMJD6', 'score': 10.22}, {'connected_gene': 'UNC13D', 'score': 7.95}, {'connected_gene': 'UBALD2', 'score': 7.94}, {'connected_gene': 'H3F3B', 'score': 6.13}, {'connected_gene': 'RHBDF2', 'score': 4.85}, {'connected_gene': 'ACOX1', 'score': 3.46}, {'connected_gene': 'WBP2', 'score': 3.31}, {'connected_gene': 'ST6GALNAC2', 'score': 1.48}, {'connected_gene': 'SPHK1', 'score': 1.42}, {'connected_gene': 'LOC105371896', 'score': 0.39}]
chr17 GH17I076704 76704501 76706276 0.43 [{'connected_gene': 'RNY4P36', 'score': 550.77}, {'connected_gene': 'GC17M076710', 'score': 550.77}, {'connected_gene': 'MXRA7', 'score': 33.98}, {'connected_gene': 'JMJD6', 'score': 7.87}, {'connected_gene': 'ENSG00000277382', 'score': 0.77}]
chr17 GH17I076686 76686544 76689838 1.38 [{'connected_gene': 'GC17M076685', 'score': 550.77}, {'connected_gene': 'MXRA7', 'score': 70.29}, {'connected_gene': 'JMJD6', 'score': 19.81}, {'connected_gene': 'RNU6-227P', 'score': 12.29}, {'connected_gene': 'METTL23', 'score': 11.77}, {'connected_gene': 'PRCD', 'score': 11.27}, {'connected_gene': 'CYGB', 'score': 11.2}, {'connected_gene': 'UBE2O', 'score': 10.38}, {'connected_gene': 'RNU6-97P', 'score': 10.38}, {'connected_gene': 'AANAT', 'score': 10.38}, {'connected_gene': 'GC17M076699', 'score': 0.37}]
chr17 GH17I076714 76714416 76717862 1.31 [{'connected_gene': 'PIR40752', 'score': 550.77}, {'connected_gene': 'GC17P076718', 'score': 550.77}, {'connected_gene': 'GC17P076719', 'score': 550.77}, {'connected_gene': 'PIR40254', 'score': 550.77}, {'connected_gene': 'GC17P076717', 'score': 550.77}, {'connected_gene': 'MXRA7', 'score': 43.31}, {'connected_gene': 'JMJD6', 'score': 9.51}]
chr17 GH17I076719 76719926 76722394 0.46 [{'connected_gene': 'ENSG00000274051', 'score': 550.77}, {'connected_gene': 'MXRA7', 'score': 28.1}, {'connected_gene': 'LINC02080', 'score': 5.6}, {'connected_gene': 'PIR40254', 'score': 0.77}, {'connected_gene': 'GC17P076717', 'score': 0.77}, {'connected_gene': 'JMJD6', 'score': 0.44}]
chr17 GH17I076731 76731839 76731848 0.49 [{'connected_gene': 'ENSG00000267168', 'score': 550.77}, {'connected_gene': 'JMJD6', 'score': 0.44}, {'connected_gene': 'METTL23', 'score': 0.44}]
chr17 GH17I076713 76713379 76713528 0.58 [{'connected_gene': 'PIR36222', 'score': 550.77}, {'connected_gene': 'RNU6-227P', 'score': 10.77}, {'connected_gene': 'MXRA7', 'score': 0.77}, {'connected_gene': 'JMJD6', 'score': 0.39}]
chr17 GH17I076751 76751839 76754488 0.88 [{'connected_gene': 'GC17P076754', 'score': 550.77}, {'connected_gene': 'RNU6-97P', 'score': 550.77}, {'connected_gene': 'MXRA7', 'score': 20.89}, {'connected_gene': 'JMJD6', 'score': 13.0}, {'connected_gene': 'METTL23', 'score': 11.09}, {'connected_gene': 'MFSD11', 'score': 6.61}, {'connected_gene': 'SRSF2', 'score': 2.18}, {'connected_gene': 'UBALD2', 'score': 1.58}, {'connected_gene': 'GC17P076792', 'score': 0.28}]
chr17 GH17I076596 76596801 76599084 1.43 [{'connected_gene': 'GC17M076570', 'score': 550.77}, {'connected_gene': 'ST6GALNAC2', 'score': 12.28}, {'connected_gene': 'MXRA7', 'score': 6.73}, {'connected_gene': 'JMJD6', 'score': 6.16}, {'connected_gene': 'SPHK1', 'score': 5.38}, {'connected_gene': 'CDK3', 'score': 4.43}, {'connected_gene': 'RHBDF2', 'score': 4.38}, {'connected_gene': 'UBALD2', 'score': 1.26}, {'connected_gene': 'ST6GALNAC1', 'score': 0.25}]

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