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
ENST00000441007 [[186500993, 186501139], [186501236, 186501428], [186502220, 186502266], [186502352, 186502448]] [[186501399, 186501428], [186502220, 186502266], [186502352, 186502448]]
ENST00000445596 [[186501093, 186501428], [186502220, 186502266], [186502352, 186502485], [186502750, 186502836]] [[186501399, 186501428], [186502220, 186502266], [186502352, 186502485], [186502750, 186502836]]
ENST00000323963 [[186501335, 186501428], [186502220, 186502266], [186502352, 186502485], [186502750, 186502890], [186503671, 186503840], [186503952, 186504062], [186504290, 186504434], [186504915, 186505053], [186505283, 186505373], [186505591, 186505671], [186506913, 186507689]] [[186501399, 186501428], [186502220, 186502266], [186502352, 186502485], [186502750, 186502890], [186503671, 186503840], [186503952, 186504062], [186504290, 186504434], [186504915, 186505053], [186505283, 186505373], [186505591, 186505671], [186506913, 186507058]]
ENST00000426808 [[186501360, 186501428], [186502220, 186502266], [186502352, 186502485], [186503671, 186503840], [186503952, 186504062], [186504290, 186504434], [186504915, 186505053], [186505283, 186505373], [186505591, 186505671], [186506913, 186507686]] [[186501399, 186501428], [186502220, 186502266], [186502352, 186502485], [186503671, 186503754]]
ENST00000465222 [[186501363, 186501428], [186502220, 186502831]] None
ENST00000491473 [[186501365, 186501428], [186502217, 186502733]] None
ENST00000486805 [[186501365, 186501428], [186502217, 186502266], [186502352, 186502830]] None
ENST00000465032 [[186501365, 186501428], [186502220, 186502266], [186502352, 186502485], [186502750, 186503086]] None
ENST00000465267 [[186501365, 186501428], [186502217, 186502266], [186502352, 186502485], [186502750, 186503559]] None
ENST00000495049 [[186501365, 186501428], [186502220, 186502266], [186502352, 186502485], [186503671, 186504005]] None
ENST00000429589 [[186501365, 186501428], [186502220, 186502266], [186502352, 186502485], [186503671, 186503840], [186503952, 186504062], [186504290, 186504434], [186504915, 186505053], [186505267, 186505373], [186505591, 186505671], [186506913, 186506929]] [[186501399, 186501428], [186502220, 186502266], [186502352, 186502485], [186503671, 186503754]]
ENST00000425053 [[186501365, 186501428], [186502220, 186502266], [186502352, 186502485], [186502750, 186502890], [186503671, 186503840], [186503952, 186504062], [186504290, 186504434], [186504915, 186505053], [186505283, 186505373], [186505591, 186505671], [186506098, 186506205], [186506913, 186507670]] [[186501399, 186501428], [186502220, 186502266], [186502352, 186502485], [186502750, 186502890], [186503671, 186503840], [186503952, 186504062], [186504290, 186504434], [186504915, 186505053], [186505283, 186505373], [186505591, 186505671], [186506098, 186506108]]
ENST00000440191 [[186501365, 186501428], [186502217, 186502266], [186502352, 186502485], [186502750, 186502890], [186503671, 186503840], [186503952, 186504062], [186504290, 186504434], [186504915, 186505053], [186505283, 186505373], [186505591, 186505671], [186506913, 186507686]] [[186501399, 186501428], [186502217, 186502266], [186502352, 186502485], [186502750, 186502890], [186503671, 186503840], [186503952, 186504062], [186504290, 186504434], [186504915, 186505053], [186505283, 186505373], [186505591, 186505671], [186506913, 186507058]]
ENST00000485101 [[186501366, 186501428], [186502220, 186502266], [186502352, 186503840], [186503952, 186507683]] None
ENST00000475653 [[186501381, 186501428], [186502220, 186502266], [186502352, 186502485], [186503671, 186503840], [186503952, 186504062], [186504290, 186504434], [186504915, 186505175]] None
ENST00000356531 [[186501385, 186501428], [186502217, 186502266], [186502352, 186502485], [186503671, 186503840], [186503952, 186504062], [186504290, 186504434], [186504915, 186505053], [186505283, 186505373], [186505591, 186505671], [186506913, 186507683]] [[186502422, 186502485], [186503671, 186503840], [186503952, 186504062], [186504290, 186504434], [186504915, 186505053], [186505283, 186505373], [186505591, 186505671], [186506913, 186507058]]
ENST00000443963 [[186501385, 186501428], [186502217, 186502266], [186502352, 186502485], [186503671, 186503840], [186503952, 186504062], [186504290, 186504434], [186504915, 186505053], [186505283, 186505373], [186505591, 186505671], [186506913, 186507686]] [[186501399, 186501428], [186502217, 186502266], [186502352, 186502485], [186503671, 186503754]]
ENST00000498746 [[186501991, 186502266], [186502352, 186502485], [186502750, 186502890], [186503671, 186503702]] [[186502242, 186502266], [186502352, 186502485], [186502750, 186502890], [186503671, 186503702]]
ENST00000467585 [[186501991, 186502266], [186502352, 186502485], [186503671, 186503833]] None
ENST00000466362 [[186502849, 186502890], [186503671, 186503840], [186503952, 186504287]] None
ENST00000468362 [[186503750, 186503840], [186503952, 186504062], [186504290, 186504434], [186504915, 186505053], [186505283, 186506157]] None
ENST00000492144 [[186503783, 186503840], [186503952, 186504062], [186504290, 186504434], [186504915, 186505053], [186505283, 186505373], [186505591, 186506045]] None
ENST00000465792 [[186503864, 186504434], [186504915, 186505079]] None
ENST00000475409 [[186504279, 186505053], [186505283, 186505311]] None
ENST00000497177 [[186504428, 186504434], [186504915, 186505053], [186505591, 186506296]] None
ENST00000494445 [[186505102, 186505373], [186505591, 186505671], [186506098, 186506209], [186506913, 186507080]] None
ENST00000461021 [[186505195, 186505373], [186505591, 186505988]] None
ENST00000496382 [[186505564, 186505671], [186506913, 186507266]] None
NM_001967 [[186501360, 186501428], [186502220, 186502266], [186502352, 186502485], [186502750, 186502890], [186503671, 186503840], [186503952, 186504062], [186504290, 186504434], [186504915, 186505053], [186505283, 186505373], [186505591, 186505671], [186506913, 186507686]] [[186501399, 186501428], [186502220, 186502266], [186502352, 186502485], [186502750, 186502890], [186503671, 186503840], [186503952, 186504062], [186504290, 186504434], [186504915, 186505053], [186505283, 186505373], [186505591, 186505671], [186506913, 186507058]]
Promoter
Chrom Start End Description
chr3 186501357 186501378 CAGE_peak_1_at_EIF4A2_5end
chr3 186501603 186501643 CAGE_peak_22_at_EIF4A2_5end
chr3 186501891 186501936 CAGE_peak_5_at_EIF4A2_5end
chr3 186501939 186501966 CAGE_peak_13_at_EIF4A2_5end
chr3 186501979 186502002 CAGE_peak_3_at_EIF4A2_5end
chr3 186503766 186503780 CAGE_peak_4_at_EIF4A2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I187030 187030744 187033090 0.72 [{'connected_gene': 'ADIPOQ', 'score': 10.64}, {'connected_gene': 'SNORA63', 'score': 10.59}, {'connected_gene': 'ENSG00000200418', 'score': 10.58}, {'connected_gene': 'EIF4A2', 'score': 10.58}, {'connected_gene': 'SNORA81', 'score': 10.58}, {'connected_gene': 'RFC4', 'score': 10.08}, {'connected_gene': 'ST6GAL1', 'score': 4.87}, {'connected_gene': 'GC03P186996', 'score': 0.28}, {'connected_gene': 'GC03P186997', 'score': 0.28}, {'connected_gene': 'PIR46786', 'score': 0.25}]
chr3 GH03I187038 187038021 187045310 1.42 [{'connected_gene': 'ADIPOQ', 'score': 10.62}, {'connected_gene': 'RFC4', 'score': 10.5}, {'connected_gene': 'ENSG00000200418', 'score': 10.5}, {'connected_gene': 'EIF4A2', 'score': 10.5}, {'connected_gene': 'SNORA63', 'score': 10.5}, {'connected_gene': 'SNORA81', 'score': 10.5}, {'connected_gene': 'ADIPOQ-AS1', 'score': 10.33}, {'connected_gene': 'ST6GAL1', 'score': 5.25}, {'connected_gene': 'PIR46786', 'score': 0.28}, {'connected_gene': 'GC03P186996', 'score': 0.25}, {'connected_gene': 'GC03P186997', 'score': 0.25}]
chr3 GH03I186961 186961191 186962991 0.31 [{'connected_gene': 'ADIPOQ', 'score': 10.47}, {'connected_gene': 'ADIPOQ-AS1', 'score': 10.34}, {'connected_gene': 'RFC4', 'score': 9.9}, {'connected_gene': 'ENSG00000200418', 'score': 9.89}, {'connected_gene': 'EIF4A2', 'score': 9.89}, {'connected_gene': 'SNORA81', 'score': 9.89}, {'connected_gene': 'SNORA63', 'score': 9.89}, {'connected_gene': 'ST6GAL1', 'score': 4.78}, {'connected_gene': 'GC03P186932', 'score': 0.31}, {'connected_gene': 'LOC101929079', 'score': 0.29}]
chr3 GH03I187129 187129391 187131769 1.17 [{'connected_gene': 'SNORA81', 'score': 25.24}, {'connected_gene': 'ENSG00000200418', 'score': 22.43}, {'connected_gene': 'SNORA63', 'score': 21.18}, {'connected_gene': 'SNORA4', 'score': 16.55}, {'connected_gene': 'TBCCD1', 'score': 11.61}, {'connected_gene': 'RPL39L', 'score': 11.37}, {'connected_gene': 'EIF4A2', 'score': 10.97}, {'connected_gene': 'ADIPOQ', 'score': 10.33}, {'connected_gene': 'RFC4', 'score': 9.92}, {'connected_gene': 'RTP4', 'score': 1.22}, {'connected_gene': 'RPL39P19', 'score': 0.44}]
chr3 GH03I187019 187019216 187030200 2.21 [{'connected_gene': 'ST6GAL1', 'score': 572.67}, {'connected_gene': 'ADIPOQ', 'score': 11.12}, {'connected_gene': 'ADIPOQ-AS1', 'score': 10.8}, {'connected_gene': 'RTP4', 'score': 2.07}, {'connected_gene': 'EIF4A2', 'score': 1.98}, {'connected_gene': 'TBCCD1', 'score': 1.66}, {'connected_gene': 'RTP1', 'score': 1.59}, {'connected_gene': 'GC03P186996', 'score': 0.31}, {'connected_gene': 'GC03P186997', 'score': 0.31}, {'connected_gene': 'PIR46786', 'score': 0.23}]
chr3 GH03I186532 186532183 186535004 1.01 [{'connected_gene': 'ST6GAL1', 'score': 3.8}, {'connected_gene': 'TBCCD1', 'score': 2.41}, {'connected_gene': 'EIF4A2', 'score': 1.28}, {'connected_gene': 'CRYGS', 'score': 0.39}, {'connected_gene': 'LINC02052', 'score': 0.28}]
chr3 GH03I186963 186963267 186966966 1.1 [{'connected_gene': 'ST6GAL1', 'score': 18.34}, {'connected_gene': 'ADIPOQ-AS1', 'score': 11.29}, {'connected_gene': 'ADIPOQ', 'score': 10.99}, {'connected_gene': 'ENSG00000231724', 'score': 10.39}, {'connected_gene': 'RFC4', 'score': 10.39}, {'connected_gene': 'ENSG00000200418', 'score': 9.89}, {'connected_gene': 'SNORA63', 'score': 9.89}, {'connected_gene': 'SNORA81', 'score': 9.89}, {'connected_gene': 'EIF4A2', 'score': 9.88}, {'connected_gene': 'RPL29P9', 'score': 6.86}, {'connected_gene': 'LOC101929079', 'score': 0.31}, {'connected_gene': 'GC03P186932', 'score': 0.29}]
chr3 GH03I186540 186540152 186541815 1.05 [{'connected_gene': 'TRA2B', 'score': 10.18}, {'connected_gene': 'EIF4A2', 'score': 9.91}, {'connected_gene': 'ENSG00000200418', 'score': 9.9}, {'connected_gene': 'SNORA63', 'score': 9.9}, {'connected_gene': 'SNORA81', 'score': 9.9}, {'connected_gene': 'RFC4', 'score': 9.9}, {'connected_gene': 'CRYGS', 'score': 0.44}, {'connected_gene': 'LINC02052', 'score': 0.25}]
chr3 GH03I186782 186782200 186789291 2.32 [{'connected_gene': 'SNORA4', 'score': 574.8}, {'connected_gene': 'ENSG00000200418', 'score': 574.15}, {'connected_gene': 'SNORA81', 'score': 561.19}, {'connected_gene': 'EIF4A2', 'score': 561.14}, {'connected_gene': 'GC03P186836', 'score': 550.77}, {'connected_gene': 'ENSG00000263826', 'score': 550.77}, {'connected_gene': 'GC03P186835', 'score': 550.77}, {'connected_gene': 'GC03P186828', 'score': 550.77}, {'connected_gene': 'GC03P186834', 'score': 550.77}, {'connected_gene': 'GC03P186837', 'score': 550.77}, {'connected_gene': 'GC03P186840', 'score': 550.77}, {'connected_gene': 'GC03P186838', 'score': 550.77}, {'connected_gene': 'GC03P186785', 'score': 550.77}, {'connected_gene': 'SNORA63', 'score': 550.77}, {'connected_gene': 'MIR1248', 'score': 550.77}, {'connected_gene': 'GC03P186832', 'score': 550.77}, {'connected_gene': 'GC03P186839', 'score': 550.77}, {'connected_gene': 'GC03P186831', 'score': 550.77}, {'connected_gene': 'SNORD2', 'score': 550.77}, {'connected_gene': 'TRA2B', 'score': 72.08}, {'connected_gene': 'RFC4', 'score': 39.04}, {'connected_gene': 'TBCCD1', 'score': 29.72}, {'connected_gene': 'LOC100131635', 'score': 18.96}, {'connected_gene': 'ENSG00000231724', 'score': 11.83}, {'connected_gene': 'RPS20P14', 'score': 10.39}, {'connected_gene': 'BCL6-AS1', 'score': 9.87}]
chr3 GH03I186821 186821364 186822000 0.82 [{'connected_gene': 'SNORA63', 'score': 11.7}, {'connected_gene': 'ENSG00000200418', 'score': 11.68}, {'connected_gene': 'EIF4A2', 'score': 11.68}, {'connected_gene': 'SNORA81', 'score': 11.68}, {'connected_gene': 'ADIPOQ', 'score': 11.31}, {'connected_gene': 'SNORD2', 'score': 11.3}, {'connected_gene': 'AHSG', 'score': 10.64}, {'connected_gene': 'KNG1', 'score': 10.36}, {'connected_gene': 'ADIPOQ-AS1', 'score': 10.21}, {'connected_gene': 'LINC02043', 'score': 0.77}, {'connected_gene': 'ENSG00000231724', 'score': 0.39}]
chr3 GH03I186822 186822112 186822261 0.46 [{'connected_gene': 'SNORA63', 'score': 11.7}, {'connected_gene': 'ENSG00000200418', 'score': 11.68}, {'connected_gene': 'EIF4A2', 'score': 11.68}, {'connected_gene': 'SNORA81', 'score': 11.68}, {'connected_gene': 'ADIPOQ', 'score': 11.31}, {'connected_gene': 'SNORD2', 'score': 11.3}, {'connected_gene': 'AHSG', 'score': 10.64}, {'connected_gene': 'KNG1', 'score': 10.36}, {'connected_gene': 'ADIPOQ-AS1', 'score': 10.21}, {'connected_gene': 'LINC02043', 'score': 0.77}, {'connected_gene': 'ENSG00000231724', 'score': 0.39}]
chr3 GH03I186757 186757010 186758517 0.52 [{'connected_gene': 'KNG1', 'score': 11.43}, {'connected_gene': 'ENSG00000200418', 'score': 11.11}, {'connected_gene': 'SNORA63', 'score': 11.11}, {'connected_gene': 'EIF4A2', 'score': 11.11}, {'connected_gene': 'SNORA81', 'score': 11.11}, {'connected_gene': 'RFC4', 'score': 11.05}, {'connected_gene': 'FETUB', 'score': 10.61}, {'connected_gene': 'AHSG', 'score': 10.41}, {'connected_gene': 'ENSG00000231724', 'score': 10.29}, {'connected_gene': 'HRG', 'score': 10.21}, {'connected_gene': 'PSMD10P2', 'score': 0.77}, {'connected_gene': 'LOC105374259', 'score': 0.77}, {'connected_gene': 'LOC105374258', 'score': 0.37}]
chr3 GH03I186760 186760076 186761770 0.73 [{'connected_gene': 'PSMD10P2', 'score': 550.77}, {'connected_gene': 'KNG1', 'score': 11.43}, {'connected_gene': 'EIF4A2', 'score': 11.14}, {'connected_gene': 'ENSG00000200418', 'score': 11.11}, {'connected_gene': 'SNORA63', 'score': 11.11}, {'connected_gene': 'SNORA81', 'score': 11.11}, {'connected_gene': 'RFC4', 'score': 11.05}, {'connected_gene': 'ENSG00000231724', 'score': 10.29}, {'connected_gene': 'HRG', 'score': 10.2}, {'connected_gene': 'GPS2P2', 'score': 7.55}, {'connected_gene': 'LOC105374259', 'score': 0.44}, {'connected_gene': 'RNU6-1105P', 'score': 0.39}, {'connected_gene': 'LOC105374258', 'score': 0.39}, {'connected_gene': 'GC03M186772', 'score': 0.39}]
chr3 GH03I186588 186588296 186591531 1.07 [{'connected_gene': 'AHSG', 'score': 12.3}, {'connected_gene': 'SNORD2', 'score': 10.75}, {'connected_gene': 'EIF4A2', 'score': 10.75}, {'connected_gene': 'ENSG00000200418', 'score': 10.75}, {'connected_gene': 'SNORA63', 'score': 10.75}, {'connected_gene': 'SNORA81', 'score': 10.75}, {'connected_gene': 'RFC4', 'score': 10.4}, {'connected_gene': 'ENSG00000231724', 'score': 10.4}, {'connected_gene': 'FETUB', 'score': 10.38}, {'connected_gene': 'KNG1', 'score': 10.35}, {'connected_gene': 'HRG', 'score': 10.04}, {'connected_gene': 'DNAJB11', 'score': 5.51}, {'connected_gene': 'CRYGS', 'score': 5.07}, {'connected_gene': 'LOC100287402', 'score': 0.44}, {'connected_gene': 'ENSG00000283149', 'score': 0.44}, {'connected_gene': 'LOC105374258', 'score': 0.09}]
chr3 GH03I186752 186752212 186756063 1.12 [{'connected_gene': 'LOC105374259', 'score': 550.77}, {'connected_gene': 'KNG1', 'score': 10.98}, {'connected_gene': 'EIF4A2', 'score': 10.98}, {'connected_gene': 'ENSG00000200418', 'score': 10.96}, {'connected_gene': 'SNORA63', 'score': 10.96}, {'connected_gene': 'SNORA81', 'score': 10.96}, {'connected_gene': 'RFC4', 'score': 10.69}, {'connected_gene': 'FETUB', 'score': 10.61}, {'connected_gene': 'ENSG00000231724', 'score': 10.17}, {'connected_gene': 'AHSG', 'score': 9.94}, {'connected_gene': 'HRG', 'score': 9.72}, {'connected_gene': 'PSMD10P2', 'score': 0.44}, {'connected_gene': 'LOC105374258', 'score': 0.37}]
chr3 GH03I186916 186916201 186916600 0.52 [{'connected_gene': 'ADIPOQ-AS1', 'score': 11.35}, {'connected_gene': 'ADIPOQ', 'score': 11.05}, {'connected_gene': 'RFC4', 'score': 9.94}, {'connected_gene': 'SNORA63', 'score': 9.92}, {'connected_gene': 'SNORA81', 'score': 9.92}, {'connected_gene': 'ENSG00000200418', 'score': 9.91}, {'connected_gene': 'EIF4A2', 'score': 9.91}, {'connected_gene': 'ST6GAL1', 'score': 5.8}, {'connected_gene': 'GC03M186923', 'score': 0.44}, {'connected_gene': 'RPS20P14', 'score': 0.37}]
chr3 GH03I186772 186772147 186773678 1.74 [{'connected_gene': 'GPS2P2', 'score': 559.87}, {'connected_gene': 'RNU6-1105P', 'score': 550.77}, {'connected_gene': 'LOC105374258', 'score': 550.77}, {'connected_gene': 'GC03M186772', 'score': 550.77}, {'connected_gene': 'TBCCD1', 'score': 1.52}, {'connected_gene': 'EIF4A2', 'score': 1.51}, {'connected_gene': 'ST6GAL1', 'score': 1.34}]
chr3 GH03I186824 186824881 186828161 1.46 [{'connected_gene': 'ENSG00000231982', 'score': 558.23}, {'connected_gene': 'LINC02043', 'score': 550.77}, {'connected_gene': 'ENSG00000200418', 'score': 21.66}, {'connected_gene': 'RFC4', 'score': 18.03}, {'connected_gene': 'TRA2B', 'score': 17.84}, {'connected_gene': 'TBCCD1', 'score': 16.91}, {'connected_gene': 'SNORA63', 'score': 11.43}, {'connected_gene': 'SNORA81', 'score': 11.43}, {'connected_gene': 'EIF4A2', 'score': 11.42}, {'connected_gene': 'ADIPOQ-AS1', 'score': 10.47}, {'connected_gene': 'SNORA4', 'score': 10.21}, {'connected_gene': 'AHSG', 'score': 10.17}, {'connected_gene': 'KNG1', 'score': 9.79}, {'connected_gene': 'ADIPOQ', 'score': 7.56}]

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