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
ENST00000327259 [[66059340, 66059559], [66061792, 66064135]] [[66059484, 66059559], [66061792, 66063124]]
NM_153266 [[66059372, 66059559], [66061792, 66064135]] [[66059484, 66059559], [66061792, 66063124]]
Promoter
Chrom Start End Description
chr11 66059302 66059313 CAGE_peak_3_at_TMEM151A_5end
chr11 66059339 66059348 CAGE_peak_2_at_TMEM151A_5end
chr11 66059358 66059372 CAGE_peak_1_at_TMEM151A_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 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 GH11I066135 66135978 66138361 1.53 [{'connected_gene': 'PACS1', 'score': 12.01}, {'connected_gene': 'ENSG00000255038', 'score': 12.01}, {'connected_gene': 'KLC2', 'score': 10.93}, {'connected_gene': 'ENSG00000254461', 'score': 10.93}, {'connected_gene': 'ENSG00000255320', 'score': 10.86}, {'connected_gene': 'SF3B2', 'score': 10.5}, {'connected_gene': 'CST6', 'score': 10.47}, {'connected_gene': 'BANF1', 'score': 10.46}, {'connected_gene': 'EIF1AD', 'score': 10.46}, {'connected_gene': 'TMEM151A', 'score': 6.42}, {'connected_gene': 'LOC105369354', 'score': 0.25}]
chr11 GH11I066291 66291800 66292001 1.52 [{'connected_gene': 'TMEM151A', 'score': 550.77}, {'connected_gene': 'GC11M066294', 'score': 0.77}]
chr11 GH11I066256 66256317 66259158 2.01 [{'connected_gene': 'KLC2', 'score': 557.25}, {'connected_gene': 'RAB1B', 'score': 18.38}, {'connected_gene': 'TMEM151A', 'score': 5.42}, {'connected_gene': 'ENSG00000254461', 'score': 0.77}]
chr11 GH11I066086 66086505 66088954 0.46 [{'connected_gene': 'SF3B2', 'score': 21.23}, {'connected_gene': 'EIF1AD', 'score': 14.98}, {'connected_gene': 'ENSG00000255320', 'score': 11.2}, {'connected_gene': 'CST6', 'score': 10.5}, {'connected_gene': 'BANF1', 'score': 10.49}, {'connected_gene': 'KLC2', 'score': 7.29}, {'connected_gene': 'TMEM151A', 'score': 6.29}, {'connected_gene': 'PACS1', 'score': 0.37}, {'connected_gene': 'GC11P066062', 'score': 0.31}, {'connected_gene': 'LOC105369354', 'score': 0.15}]
chr11 GH11I066020 66020043 66023076 1.08 [{'connected_gene': 'SF3B2', 'score': 13.72}, {'connected_gene': 'RAB1B', 'score': 11.01}, {'connected_gene': 'CATSPER1', 'score': 9.23}, {'connected_gene': 'TMEM151A', 'score': 5.19}, {'connected_gene': 'CST6', 'score': 0.44}]
chr11 GH11I066054 66054200 66059585 0.54 [{'connected_gene': 'SF3B2', 'score': 20.49}, {'connected_gene': 'ENSG00000255320', 'score': 12.21}, {'connected_gene': 'CATSPER1', 'score': 8.35}, {'connected_gene': 'TMEM151A', 'score': 6.53}, {'connected_gene': 'GC11P066062', 'score': 0.44}]
chr11 GH11I066050 66050715 66053797 2.04 [{'connected_gene': 'SF3B2', 'score': 578.42}, {'connected_gene': 'RBM14', 'score': 26.09}, {'connected_gene': 'POLA2', 'score': 23.91}, {'connected_gene': 'RBM4', 'score': 23.07}, {'connected_gene': 'EIF1AD', 'score': 21.8}, {'connected_gene': 'PCNX3', 'score': 21.19}, {'connected_gene': 'LOC105369352', 'score': 20.98}, {'connected_gene': 'ENSG00000258297', 'score': 19.44}, {'connected_gene': 'MUS81', 'score': 15.04}, {'connected_gene': 'ENSG00000245156', 'score': 14.02}, {'connected_gene': 'SART1', 'score': 13.48}, {'connected_gene': 'ZFPL1', 'score': 13.24}, {'connected_gene': 'RELA', 'score': 13.13}, {'connected_gene': 'SYVN1', 'score': 12.91}, {'connected_gene': 'SSSCA1', 'score': 12.15}, {'connected_gene': 'ENSG00000255320', 'score': 12.01}, {'connected_gene': 'FAU', 'score': 11.38}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'ENSG00000255038', 'score': 11.22}, {'connected_gene': 'SCYL1', 'score': 11.17}, {'connected_gene': 'NEAT1', 'score': 11.06}, {'connected_gene': 'KAT5', 'score': 10.46}, {'connected_gene': 'FRMD8', 'score': 10.05}, {'connected_gene': 'NAALADL1', 'score': 9.93}, {'connected_gene': 'MALAT1', 'score': 9.91}, {'connected_gene': 'CCS', 'score': 9.89}, {'connected_gene': 'ENSG00000254461', 'score': 9.76}, {'connected_gene': 'CATSPER1', 'score': 8.15}, {'connected_gene': 'KLC2', 'score': 5.58}, {'connected_gene': 'TMEM151A', 'score': 5.28}, {'connected_gene': 'GC11P066062', 'score': 0.44}]
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 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 GH11I066192 66192219 66193189 0.2 [{'connected_gene': 'GC11P066191', 'score': 550.77}, {'connected_gene': 'ENSG00000255320', 'score': 24.97}, {'connected_gene': 'PACS1', 'score': 11.06}, {'connected_gene': 'ENSG00000255038', 'score': 10.69}, {'connected_gene': 'CD248', 'score': 10.17}, {'connected_gene': 'ENSG00000201733', 'score': 8.61}, {'connected_gene': 'OVOL1-AS1', 'score': 6.75}, {'connected_gene': 'KLC2', 'score': 5.67}, {'connected_gene': 'TMEM151A', 'score': 4.56}, {'connected_gene': 'PIR58866', 'score': 0.34}, {'connected_gene': 'GC11M066188', 'score': 0.23}]
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 GH11I066106 66106713 66107999 1.02 [{'connected_gene': 'ENSG00000255320', 'score': 24.23}, {'connected_gene': 'PACS1', 'score': 12.26}, {'connected_gene': 'ENSG00000255038', 'score': 12.26}, {'connected_gene': 'CATSPER1', 'score': 11.16}, {'connected_gene': 'CST6', 'score': 9.74}, {'connected_gene': 'EIF1AD', 'score': 9.73}, {'connected_gene': 'BANF1', 'score': 9.73}, {'connected_gene': 'CD248', 'score': 9.29}, {'connected_gene': 'TMEM151A', 'score': 5.86}, {'connected_gene': 'LOC105369354', 'score': 0.18}]
chr11 GH11I066111 66111018 66121312 1.37 [{'connected_gene': 'ENSG00000255320', 'score': 38.17}, {'connected_gene': 'SF3B2', 'score': 33.42}, {'connected_gene': 'SART1', 'score': 30.74}, {'connected_gene': 'EIF1AD', 'score': 23.42}, {'connected_gene': 'ENSG00000258297', 'score': 22.69}, {'connected_gene': 'ENSG00000255038', 'score': 21.95}, {'connected_gene': 'PACS1', 'score': 20.16}, {'connected_gene': 'KAT5', 'score': 19.71}, {'connected_gene': 'RBM14', 'score': 19.42}, {'connected_gene': 'CD248', 'score': 19.0}, {'connected_gene': 'RELA', 'score': 16.52}, {'connected_gene': 'POLA2', 'score': 15.77}, {'connected_gene': 'MUS81', 'score': 14.43}, {'connected_gene': 'RAB1B', 'score': 13.51}, {'connected_gene': 'FAU', 'score': 12.93}, {'connected_gene': 'GAL3ST3', 'score': 12.05}, {'connected_gene': 'PCNX3', 'score': 11.76}, {'connected_gene': 'CATSPER1', 'score': 11.37}, {'connected_gene': 'DPF2', 'score': 11.0}, {'connected_gene': 'RBM4', 'score': 10.61}, {'connected_gene': 'CST6', 'score': 10.32}, {'connected_gene': 'BANF1', 'score': 10.31}, {'connected_gene': 'LOC105369352', 'score': 10.05}, {'connected_gene': 'SYVN1', 'score': 10.01}, {'connected_gene': 'KLC2', 'score': 6.46}, {'connected_gene': 'TMEM151A', 'score': 6.33}, {'connected_gene': 'LOC105369354', 'score': 0.2}]
chr11 GH11I066078 66078063 66085556 1.63 [{'connected_gene': 'ENSG00000255320', 'score': 25.62}, {'connected_gene': 'SF3B2', 'score': 21.94}, {'connected_gene': 'SIPA1', 'score': 20.42}, {'connected_gene': 'PACS1', 'score': 14.44}, {'connected_gene': 'CST6', 'score': 10.58}, {'connected_gene': 'EIF1AD', 'score': 10.56}, {'connected_gene': 'BANF1', 'score': 10.56}, {'connected_gene': 'SART1', 'score': 10.12}, {'connected_gene': 'MAP3K11', 'score': 9.82}, {'connected_gene': 'AP5B1', 'score': 7.99}, {'connected_gene': 'TMEM151A', 'score': 6.38}, {'connected_gene': 'KCNK7', 'score': 5.13}, {'connected_gene': 'RELA', 'score': 2.8}, {'connected_gene': 'CNIH2', 'score': 2.11}, {'connected_gene': 'PCNX3', 'score': 1.34}, {'connected_gene': 'CTSW', 'score': 1.22}, {'connected_gene': 'GC11P066062', 'score': 0.37}, {'connected_gene': 'LOC105369354', 'score': 0.15}]

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