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
ENST00000496746 [[66052050, 66052254], [66052343, 66052806]] [[66052107, 66052254], [66052343, 66052436]]
ENST00000485820 [[66052050, 66052437], [66052851, 66053117]] None
ENST00000526497 [[66052050, 66052254], [66052339, 66052437], [66052851, 66053007], [66053171, 66053229]] None
ENST00000471387 [[66052050, 66052437], [66052851, 66053007], [66053171, 66053229], [66055068, 66055147], [66056425, 66056599]] [[66052172, 66052437], [66052851, 66053007], [66053171, 66053227]]
ENST00000359461 [[66052050, 66052254], [66052343, 66052437], [66053171, 66053229], [66055068, 66055147], [66055282, 66055387], [66055551, 66055763], [66056425, 66056616]] [[66052107, 66052254], [66052343, 66052437], [66053171, 66053229], [66055068, 66055147], [66055282, 66055387], [66055551, 66055763], [66056425, 66056456]]
ENST00000376901 [[66052050, 66052254], [66052343, 66052437], [66052851, 66053007], [66053171, 66053229], [66055068, 66055147], [66055282, 66055387], [66055551, 66055763], [66056425, 66056641]] [[66052107, 66052254], [66052343, 66052437], [66052851, 66053007], [66053171, 66053229], [66055068, 66055147], [66055282, 66055387], [66055551, 66055763], [66056425, 66056456]]
ENST00000494836 [[66052051, 66052254], [66052343, 66052437], [66052851, 66053094]] None
ENST00000484814 [[66052386, 66052437], [66053171, 66053229], [66054411, 66054485], [66055068, 66055147], [66055282, 66055387], [66056425, 66056599]] [[66055121, 66055147], [66055282, 66055387], [66056425, 66056456]]
ENST00000431556 [[66052931, 66053043], [66053171, 66053229], [66055068, 66055147], [66055282, 66055387], [66055551, 66055763], [66056425, 66056478]] [[66052931, 66053043], [66053171, 66053229], [66055068, 66055147], [66055282, 66055387], [66055551, 66055763], [66056425, 66056456]]
ENST00000528575 [[66052954, 66053007], [66055068, 66055147], [66055282, 66055387], [66055551, 66055763], [66056425, 66056508]] [[66052954, 66053007], [66055068, 66055147], [66055282, 66055387], [66055551, 66055763], [66056425, 66056456]]
ENST00000376899 [[66054611, 66055147], [66055282, 66055387], [66055551, 66055763], [66056425, 66056614]] None
ENST00000474986 [[66054682, 66055147], [66055551, 66055763], [66056425, 66056608]] None
ENST00000534374 [[66055404, 66055763], [66056425, 66056606]] None
NM_020470 [[66052050, 66052254], [66052343, 66052437], [66052851, 66053007], [66053171, 66053229], [66055068, 66055147], [66055282, 66055387], [66055551, 66055763], [66056425, 66056638]] [[66052107, 66052254], [66052343, 66052437], [66052851, 66053007], [66053171, 66053229], [66055068, 66055147], [66055282, 66055387], [66055551, 66055763], [66056425, 66056456]]
NM_001300861 [[66052050, 66052254], [66052343, 66052437], [66053171, 66053229], [66055068, 66055147], [66055282, 66055387], [66055551, 66055763], [66056425, 66056638]] [[66052107, 66052254], [66052343, 66052437], [66053171, 66053229], [66055068, 66055147], [66055282, 66055387], [66055551, 66055763], [66056425, 66056456]]
Promoter
Chrom Start End Description
chr11 66052982 66053012 CAGE_peak_9_at_YIF1A_5end
chr11 66055712 66055745 CAGE_peak_5_at_YIF1A_5end
chr11 66056505 66056522 CAGE_peak_3_at_YIF1A_5end
chr11 66056544 66056560 CAGE_peak_4_at_YIF1A_5end
chr11 66056564 66056579 CAGE_peak_2_at_YIF1A_5end
chr11 66056596 66056622 CAGE_peak_1_at_YIF1A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I066324 66324158 66329552 1.68 [{'connected_gene': 'RIN1', 'score': 42.21}, {'connected_gene': 'ACTN3', 'score': 23.09}, {'connected_gene': 'YIF1A', 'score': 12.93}, {'connected_gene': 'TMEM151A', 'score': 11.69}, {'connected_gene': 'LOC100505504', 'score': 10.75}, {'connected_gene': 'SLC29A2', 'score': 10.68}, {'connected_gene': 'ENSG00000255320', 'score': 10.11}, {'connected_gene': 'PACS1', 'score': 10.01}, {'connected_gene': 'ENSG00000201733', 'score': 9.7}, {'connected_gene': 'CTSF', 'score': 9.69}, {'connected_gene': 'LOC101928069', 'score': 4.22}, {'connected_gene': 'B4GAT1', 'score': 4.19}, {'connected_gene': 'RHOD', 'score': 4.04}, {'connected_gene': 'C11orf80', 'score': 3.81}, {'connected_gene': 'FIBP', 'score': 2.06}, {'connected_gene': 'DRAP1', 'score': 1.85}, {'connected_gene': 'CD248', 'score': 1.72}, {'connected_gene': 'CFL1', 'score': 1.53}, {'connected_gene': 'ENSG00000254756', 'score': 0.44}]
chr11 GH11I066322 66322390 66322539 0.74 [{'connected_gene': 'BRMS1', 'score': 11.48}, {'connected_gene': 'TMEM151A', 'score': 11.38}, {'connected_gene': 'YIF1A', 'score': 11.38}, {'connected_gene': 'ENSG00000255320', 'score': 9.69}, {'connected_gene': 'PACS1', 'score': 9.58}, {'connected_gene': 'CD248', 'score': 0.44}, {'connected_gene': 'ENSG00000254756', 'score': 0.39}]
chr11 GH11I065886 65886248 65904668 2.68 [{'connected_gene': 'FOSL1', 'score': 559.75}, {'connected_gene': 'FIBP', 'score': 554.55}, {'connected_gene': 'CCDC85B', 'score': 552.32}, {'connected_gene': 'SNX32', 'score': 68.65}, {'connected_gene': 'ENSG00000258297', 'score': 64.02}, {'connected_gene': 'EIF1AD', 'score': 63.47}, {'connected_gene': 'RBM14', 'score': 58.97}, {'connected_gene': 'MUS81', 'score': 56.98}, {'connected_gene': 'SART1', 'score': 55.66}, {'connected_gene': 'POLA2', 'score': 54.83}, {'connected_gene': 'CTSW', 'score': 51.18}, {'connected_gene': 'KAT5', 'score': 49.25}, {'connected_gene': 'ZFPL1', 'score': 47.51}, {'connected_gene': 'RBM4', 'score': 43.51}, {'connected_gene': 'PCNX3', 'score': 41.52}, {'connected_gene': 'ENSG00000254461', 'score': 40.96}, {'connected_gene': 'SF3B2', 'score': 40.58}, {'connected_gene': 'RELA', 'score': 39.91}, {'connected_gene': 'ENSG00000255320', 'score': 36.37}, {'connected_gene': 'LOC105369352', 'score': 31.47}, {'connected_gene': 'FAU', 'score': 31.06}, {'connected_gene': 'FRMD8', 'score': 27.41}, {'connected_gene': 'DPF2', 'score': 26.38}, {'connected_gene': 'ENSG00000245156', 'score': 23.58}, {'connected_gene': 'RNASEH2C', 'score': 22.43}, {'connected_gene': 'NAALADL1', 'score': 21.52}, {'connected_gene': 'RBM4B', 'score': 20.24}, {'connected_gene': 'ENSG00000255038', 'score': 20.0}, {'connected_gene': 'CCS', 'score': 18.22}, {'connected_gene': 'RAB1B', 'score': 15.6}, {'connected_gene': 'BBS1', 'score': 15.21}, {'connected_gene': 'CFL1', 'score': 15.2}, {'connected_gene': 'NEAT1', 'score': 14.48}, {'connected_gene': 'SSSCA1-AS1', 'score': 13.19}, {'connected_gene': 'SYVN1', 'score': 12.92}, {'connected_gene': 'SSSCA1', 'score': 12.89}, {'connected_gene': 'SCYL1', 'score': 12.65}, {'connected_gene': 'BANF1', 'score': 12.26}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'KLC2', 'score': 11.19}, {'connected_gene': 'CST6', 'score': 11.05}, {'connected_gene': 'RCE1', 'score': 10.87}, {'connected_gene': 'ATG2A', 'score': 10.86}, {'connected_gene': 'NPAS4', 'score': 10.09}, {'connected_gene': 'CTSF', 'score': 10.05}, {'connected_gene': 'MALAT1', 'score': 9.93}, {'connected_gene': 'CD248', 'score': 9.75}, {'connected_gene': 'EFEMP2', 'score': 9.32}, {'connected_gene': 'TSGA10IP', 'score': 7.63}, {'connected_gene': 'OVOL1-AS1', 'score': 5.95}, {'connected_gene': 'DRAP1', 'score': 4.48}, {'connected_gene': 'RIN1', 'score': 3.28}, {'connected_gene': 'BRMS1', 'score': 2.64}, {'connected_gene': 'YIF1A', 'score': 2.47}, {'connected_gene': 'AP5B1', 'score': 2.34}, {'connected_gene': 'MAP3K11', 'score': 1.99}, {'connected_gene': 'C11orf68', 'score': 1.93}, {'connected_gene': 'EHBP1L1', 'score': 1.52}]
chr11 GH11I066311 66311197 66319469 2.58 [{'connected_gene': 'CD248', 'score': 553.0}, {'connected_gene': 'ENSG00000258297', 'score': 33.15}, {'connected_gene': 'ENSG00000255320', 'score': 31.39}, {'connected_gene': 'RBM14', 'score': 31.12}, {'connected_gene': 'EIF1AD', 'score': 30.84}, {'connected_gene': 'PCNX3', 'score': 30.15}, {'connected_gene': 'RBM4', 'score': 28.73}, {'connected_gene': 'RIN1', 'score': 28.48}, {'connected_gene': 'KDM2A', 'score': 27.26}, {'connected_gene': 'SART1', 'score': 25.58}, {'connected_gene': 'MUS81', 'score': 24.88}, {'connected_gene': 'ENSG00000245156', 'score': 23.32}, {'connected_gene': 'KAT5', 'score': 21.25}, {'connected_gene': 'SF3B2', 'score': 21.18}, {'connected_gene': 'ENSG00000255038', 'score': 20.36}, {'connected_gene': 'LOC105369352', 'score': 19.92}, {'connected_gene': 'FRMD8', 'score': 18.48}, {'connected_gene': 'CCS', 'score': 18.03}, {'connected_gene': 'RELA', 'score': 13.11}, {'connected_gene': 'RCE1', 'score': 12.45}, {'connected_gene': 'BRMS1', 'score': 11.45}, {'connected_gene': 'TMEM151A', 'score': 11.43}, {'connected_gene': 'YIF1A', 'score': 11.4}, {'connected_gene': 'NEAT1', 'score': 11.06}, {'connected_gene': 'SCYL1', 'score': 11.04}, {'connected_gene': 'LOC102724064', 'score': 10.78}, {'connected_gene': 'SSH3', 'score': 10.76}, {'connected_gene': 'SSSCA1', 'score': 10.26}, {'connected_gene': 'MALAT1', 'score': 9.91}, {'connected_gene': 'PACS1', 'score': 9.58}, {'connected_gene': 'ENSG00000254458', 'score': 9.3}]
chr11 GH11I066287 66287447 66290447 2.25 [{'connected_gene': 'YIF1A', 'score': 550.77}, {'connected_gene': 'LOC105369352', 'score': 21.6}, {'connected_gene': 'EIF1AD', 'score': 19.72}, {'connected_gene': 'RAB1B', 'score': 19.65}, {'connected_gene': 'RBM14', 'score': 13.39}, {'connected_gene': 'SSSCA1', 'score': 12.13}, {'connected_gene': 'KDM2A', 'score': 11.65}, {'connected_gene': 'SCYL1', 'score': 11.16}, {'connected_gene': 'RBM4', 'score': 10.26}, {'connected_gene': 'MRPL11', 'score': 10.25}, {'connected_gene': 'PCNX3', 'score': 10.08}, {'connected_gene': 'ENSG00000254461', 'score': 9.99}, {'connected_gene': 'TMEM151A', 'score': 6.71}, {'connected_gene': 'ENSG00000245156', 'score': 0.39}]
chr11 GH11I065910 65910046 65921408 2.63 [{'connected_gene': 'DRAP1', 'score': 555.34}, {'connected_gene': 'C11orf68', 'score': 553.0}, {'connected_gene': 'RBM14', 'score': 55.65}, {'connected_gene': 'LOC105369352', 'score': 49.09}, {'connected_gene': 'ZFPL1', 'score': 46.26}, {'connected_gene': 'ENSG00000254461', 'score': 44.43}, {'connected_gene': 'MUS81', 'score': 43.91}, {'connected_gene': 'ENSG00000258297', 'score': 43.65}, {'connected_gene': 'EIF1AD', 'score': 40.3}, {'connected_gene': 'PCNX3', 'score': 37.29}, {'connected_gene': 'RBM4', 'score': 36.59}, {'connected_gene': 'KAT5', 'score': 35.98}, {'connected_gene': 'POLA2', 'score': 34.75}, {'connected_gene': 'SF3B2', 'score': 30.26}, {'connected_gene': 'DPF2', 'score': 25.4}, {'connected_gene': 'SART1', 'score': 25.04}, {'connected_gene': 'ENSG00000255320', 'score': 24.78}, {'connected_gene': 'SCYL1', 'score': 23.06}, {'connected_gene': 'RNASEH2C', 'score': 21.42}, {'connected_gene': 'ENSG00000245156', 'score': 21.01}, {'connected_gene': 'MRPL11', 'score': 19.16}, {'connected_gene': 'RAB1B', 'score': 17.29}, {'connected_gene': 'SSSCA1', 'score': 14.18}, {'connected_gene': 'RELA', 'score': 13.52}, {'connected_gene': 'FOSL1', 'score': 12.8}, {'connected_gene': 'BRMS1', 'score': 12.55}, {'connected_gene': 'NAALADL1', 'score': 11.93}, {'connected_gene': 'CTSF', 'score': 11.78}, {'connected_gene': 'BBS1', 'score': 11.39}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'ATG2A', 'score': 11.08}, {'connected_gene': 'ENSG00000255038', 'score': 10.63}, {'connected_gene': 'TSGA10IP', 'score': 10.33}, {'connected_gene': 'FRMD8', 'score': 10.02}, {'connected_gene': 'RCE1', 'score': 10.0}, {'connected_gene': 'RBM4B', 'score': 9.86}, {'connected_gene': 'SSSCA1-AS1', 'score': 9.81}, {'connected_gene': 'SNX32', 'score': 9.3}, {'connected_gene': 'CST6', 'score': 6.93}, {'connected_gene': 'CTSW', 'score': 5.7}, {'connected_gene': 'RIN1', 'score': 5.33}, {'connected_gene': 'FIBP', 'score': 5.23}, {'connected_gene': 'TMEM151A', 'score': 4.85}, {'connected_gene': 'CFL1', 'score': 3.71}, {'connected_gene': 'YIF1A', 'score': 3.31}, {'connected_gene': 'CCDC85B', 'score': 2.54}, {'connected_gene': 'KLC2', 'score': 1.69}, {'connected_gene': 'BANF1', 'score': 1.44}, {'connected_gene': 'GC11P065910', 'score': 0.77}]
chr11 GH11I066183 66183850 66183999 0.54 [{'connected_gene': 'LOC105369354', 'score': 550.77}, {'connected_gene': 'ENSG00000255320', 'score': 11.02}, {'connected_gene': 'PACS1', 'score': 10.94}, {'connected_gene': 'YIF1A', 'score': 10.79}, {'connected_gene': 'ENSG00000255038', 'score': 10.65}, {'connected_gene': 'TMEM151A', 'score': 10.52}]
chr11 GH11I066184 66183486 66183797 0.59 [{'connected_gene': 'LOC105369354', 'score': 550.77}, {'connected_gene': 'ENSG00000255320', 'score': 11.02}, {'connected_gene': 'PACS1', 'score': 10.94}, {'connected_gene': 'YIF1A', 'score': 10.79}, {'connected_gene': 'ENSG00000255038', 'score': 10.65}, {'connected_gene': 'TMEM151A', 'score': 10.52}]
chr11 GH11I065470 65470088 65510079 2.89 [{'connected_gene': 'LOC105369346', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 189.69}, {'connected_gene': 'PCNX3', 'score': 160.7}, {'connected_gene': 'POLA2', 'score': 158.56}, {'connected_gene': 'ZFPL1', 'score': 157.11}, {'connected_gene': 'EIF1AD', 'score': 154.22}, {'connected_gene': 'SART1', 'score': 127.69}, {'connected_gene': 'MUS81', 'score': 123.55}, {'connected_gene': 'LOC105369352', 'score': 116.17}, {'connected_gene': 'KAT5', 'score': 100.18}, {'connected_gene': 'ENSG00000255320', 'score': 96.85}, {'connected_gene': 'RELA', 'score': 96.16}, {'connected_gene': 'SF3B2', 'score': 94.84}, {'connected_gene': 'FRMD8', 'score': 88.89}, {'connected_gene': 'ENSG00000245156', 'score': 84.38}, {'connected_gene': 'ENSG00000255038', 'score': 77.14}, {'connected_gene': 'ENSG00000254461', 'score': 73.84}, {'connected_gene': 'SCYL1', 'score': 66.44}, {'connected_gene': 'MRPL11', 'score': 65.32}, {'connected_gene': 'NEAT1', 'score': 64.84}, {'connected_gene': 'SYVN1', 'score': 59.82}, {'connected_gene': 'ATG2A', 'score': 54.93}, {'connected_gene': 'NAALADL1', 'score': 54.58}, {'connected_gene': 'FAU', 'score': 50.66}, {'connected_gene': 'MEN1', 'score': 46.37}, {'connected_gene': 'RAB1B', 'score': 35.68}, {'connected_gene': 'ZNHIT2', 'score': 33.24}, {'connected_gene': 'VPS51', 'score': 31.76}, {'connected_gene': 'SSSCA1-AS1', 'score': 31.65}, {'connected_gene': 'EHBP1L1', 'score': 31.53}, {'connected_gene': 'ENSG00000269038', 'score': 30.32}, {'connected_gene': 'SSSCA1', 'score': 29.87}, {'connected_gene': 'LOC101928069', 'score': 29.44}, {'connected_gene': 'LOC101927789', 'score': 25.95}, {'connected_gene': 'CD248', 'score': 20.19}, {'connected_gene': 'BRMS1', 'score': 18.17}, {'connected_gene': 'CDC42EP2', 'score': 17.45}, {'connected_gene': 'SLC25A45', 'score': 14.01}, {'connected_gene': 'DPF2', 'score': 13.74}, {'connected_gene': 'MIR612', 'score': 12.86}, {'connected_gene': 'ENSG00000255478', 'score': 12.09}, {'connected_gene': 'KCNK7', 'score': 11.86}, {'connected_gene': 'RNASEH2C', 'score': 11.28}, {'connected_gene': 'SAC3D1', 'score': 10.98}, {'connected_gene': 'SNX32', 'score': 10.73}, {'connected_gene': 'MALAT1', 'score': 10.32}, {'connected_gene': 'MRPL49', 'score': 10.06}, {'connected_gene': 'AP5B1', 'score': 6.63}, {'connected_gene': 'LOC728975', 'score': 5.96}, {'connected_gene': 'YIF1A', 'score': 5.76}, {'connected_gene': 'KRT8P26', 'score': 5.19}, {'connected_gene': 'TSGA10IP', 'score': 4.06}, {'connected_gene': 'MAP3K11', 'score': 3.96}, {'connected_gene': 'BATF2', 'score': 3.6}, {'connected_gene': 'EFEMP2', 'score': 2.32}, {'connected_gene': 'C11orf68', 'score': 1.81}, {'connected_gene': 'LTBP3', 'score': 1.66}, {'connected_gene': 'DRAP1', 'score': 1.46}, {'connected_gene': 'SIPA1', 'score': 1.37}, {'connected_gene': 'GC11M065481', 'score': 0.44}, {'connected_gene': 'GC11P065503', 'score': 0.44}, {'connected_gene': 'ENSG00000270117', 'score': 0.44}, {'connected_gene': 'GC11P065527', 'score': 0.39}, {'connected_gene': 'ENSG00000278217', 'score': 0.39}, {'connected_gene': 'ENSG00000274072', 'score': 0.37}]
chr11 GH11I066386 66386072 66386800 0.99 [{'connected_gene': 'LOC100505504', 'score': 12.34}, {'connected_gene': 'NPAS4', 'score': 11.42}, {'connected_gene': 'ENSG00000201733', 'score': 11.11}, {'connected_gene': 'PELI3', 'score': 10.55}, {'connected_gene': 'MRPL11', 'score': 10.55}, {'connected_gene': 'LOC101928069', 'score': 10.53}, {'connected_gene': 'DPP3', 'score': 10.53}, {'connected_gene': 'YIF1A', 'score': 10.44}, {'connected_gene': 'TMEM151A', 'score': 10.39}, {'connected_gene': 'KLC2', 'score': 10.03}, {'connected_gene': 'ENSG00000254461', 'score': 10.03}, {'connected_gene': 'BRD9P1', 'score': 0.77}, {'connected_gene': 'ENSG00000276918', 'score': 0.39}]
chr11 GH11I066182 66182050 66182199 0.46 [{'connected_gene': 'ENSG00000255320', 'score': 11.16}, {'connected_gene': 'PACS1', 'score': 11.09}, {'connected_gene': 'ENSG00000255038', 'score': 9.99}, {'connected_gene': 'TMEM151A', 'score': 9.9}, {'connected_gene': 'YIF1A', 'score': 9.9}, {'connected_gene': 'CD248', 'score': 9.18}, {'connected_gene': 'LOC105369354', 'score': 0.77}]
chr11 GH11I066278 66278910 66279079 0.82 [{'connected_gene': 'ENSG00000254452', 'score': 550.77}, {'connected_gene': 'ENSG00000245156', 'score': 550.77}, {'connected_gene': 'CNIH2', 'score': 550.77}, {'connected_gene': 'YIF1A', 'score': 0.39}]
chr11 GH11I066279 66279170 66279209 0.74 [{'connected_gene': 'ENSG00000254452', 'score': 550.77}, {'connected_gene': 'ENSG00000245156', 'score': 550.77}, {'connected_gene': 'CNIH2', 'score': 550.77}, {'connected_gene': 'YIF1A', 'score': 0.44}]
chr11 GH11I066281 66281340 66283422 1.37 [{'connected_gene': 'ENSG00000254458', 'score': 11.42}, {'connected_gene': 'ENSG00000254461', 'score': 11.38}, {'connected_gene': 'KLC2', 'score': 11.35}, {'connected_gene': 'CD248', 'score': 10.29}, {'connected_gene': 'ENSG00000255320', 'score': 4.28}, {'connected_gene': 'PACS1', 'score': 4.17}, {'connected_gene': 'ENSG00000245156', 'score': 0.77}, {'connected_gene': 'CNIH2', 'score': 0.77}, {'connected_gene': 'YIF1A', 'score': 0.44}]

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