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
ENST00000534032 [[65651211, 65651514], [65651862, 65651960], [65652040, 65652469], [65652548, 65652657], [65653000, 65653043]] None
ENST00000338369 [[65651391, 65651514], [65651862, 65651960], [65652040, 65652127], [65652405, 65652469], [65652548, 65652657], [65652979, 65653134], [65653792, 65653893], [65655070, 65655197], [65655404, 65655603], [65655804, 65656002]] [[65651444, 65651514], [65651862, 65651960], [65652040, 65652127], [65652405, 65652469], [65652548, 65652657], [65652979, 65653134], [65653792, 65653893], [65655070, 65655197], [65655404, 65655603], [65655804, 65655889]]
ENST00000357519 [[65651391, 65651514], [65651862, 65651960], [65652040, 65652127], [65652405, 65652469], [65652548, 65652657], [65653000, 65653134], [65653792, 65653893], [65655070, 65655197], [65655404, 65655603], [65655804, 65656010]] [[65651444, 65651514], [65651862, 65651960], [65652040, 65652127], [65652405, 65652469], [65652548, 65652657], [65653000, 65653134], [65653792, 65653893], [65655070, 65655197], [65655404, 65655603], [65655804, 65655889]]
ENST00000525765 [[65651393, 65651514], [65651862, 65651960], [65652040, 65652127], [65652405, 65652607], [65653000, 65653100]] None
ENST00000531115 [[65651395, 65651514], [65651781, 65651960], [65652040, 65652127], [65652405, 65652469], [65652548, 65652657], [65653000, 65653051]] [[65651858, 65651960], [65652040, 65652127], [65652405, 65652469], [65652548, 65652657], [65653000, 65653051]]
ENST00000533045 [[65651418, 65651514], [65651862, 65651979], [65652073, 65652127], [65652405, 65652469], [65652548, 65652657], [65653000, 65653134], [65653792, 65653893], [65655070, 65655197], [65655404, 65655603], [65655813, 65655985]] [[65651448, 65651514], [65651862, 65651979], [65652073, 65652127], [65652405, 65652469], [65652548, 65652657], [65653000, 65653134], [65653792, 65653893], [65655070, 65655197], [65655404, 65655603], [65655813, 65655889]]
ENST00000533037 [[65651479, 65651514], [65651862, 65651960], [65652040, 65652127], [65652405, 65652469], [65652548, 65652657], [65653000, 65653134], [65655070, 65655197], [65655404, 65655603], [65655804, 65655961]] [[65653104, 65653134], [65655070, 65655197], [65655404, 65655603], [65655804, 65655889]]
ENST00000532934 [[65652382, 65652469], [65652548, 65652657], [65653000, 65653181]] None
ENST00000532229 [[65652405, 65652469], [65652548, 65652657], [65652979, 65653134], [65655070, 65655197], [65655404, 65655603], [65655804, 65655907]] [[65653104, 65653134], [65655070, 65655197], [65655404, 65655603], [65655804, 65655889]]
ENST00000532679 [[65652801, 65653292], [65653792, 65653893], [65655070, 65655197], [65655404, 65655603], [65655804, 65655932]] None
ENST00000426652 [[65653577, 65653609], [65653792, 65653893], [65655070, 65655197], [65655404, 65655603], [65655804, 65655932]] None
ENST00000528937 [[65654198, 65655197], [65655404, 65655603], [65655804, 65655984]] None
ENST00000442885 [[65654800, 65655603], [65655804, 65655981]] None
NM_198897 [[65651210, 65651514], [65651862, 65651960], [65652040, 65652127], [65652405, 65652469], [65652548, 65652657], [65652979, 65653134], [65653792, 65653893], [65655070, 65655197], [65655404, 65655603], [65655804, 65656010]] [[65651444, 65651514], [65651862, 65651960], [65652040, 65652127], [65652405, 65652469], [65652548, 65652657], [65652979, 65653134], [65653792, 65653893], [65655070, 65655197], [65655404, 65655603], [65655804, 65655889]]
NM_004214 [[65651210, 65651514], [65651862, 65651960], [65652040, 65652127], [65652405, 65652469], [65652548, 65652657], [65653000, 65653134], [65653792, 65653893], [65655070, 65655197], [65655404, 65655603], [65655804, 65656010]] [[65651444, 65651514], [65651862, 65651960], [65652040, 65652127], [65652405, 65652469], [65652548, 65652657], [65653000, 65653134], [65653792, 65653893], [65655070, 65655197], [65655404, 65655603], [65655804, 65655889]]
Promoter
Chrom Start End Description
chr11 65655906 65655980 CAGE_peak_1_at_FIBP_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 GH11I065932 65932630 65932759 0.64 [{'connected_gene': 'FIBP', 'score': 12.36}, {'connected_gene': 'CCDC85B', 'score': 12.36}, {'connected_gene': 'CTSW', 'score': 12.33}, {'connected_gene': 'FOSL1', 'score': 11.93}, {'connected_gene': 'SART1', 'score': 11.91}, {'connected_gene': 'CFL1', 'score': 11.24}, {'connected_gene': 'MUS81', 'score': 11.23}, {'connected_gene': 'SNX32', 'score': 10.39}, {'connected_gene': 'PACS1', 'score': 9.6}, {'connected_gene': 'ENSG00000255320', 'score': 9.02}, {'connected_gene': 'LOC105369349', 'score': 0.39}, {'connected_gene': 'TSGA10IP', 'score': 0.39}]
chr11 GH11I065940 65940354 65942382 1.09 [{'connected_gene': 'SART1', 'score': 12.75}, {'connected_gene': 'DRAP1', 'score': 12.19}, {'connected_gene': 'C11orf68', 'score': 12.19}, {'connected_gene': 'FOSL1', 'score': 12.11}, {'connected_gene': 'CCDC85B', 'score': 11.67}, {'connected_gene': 'FIBP', 'score': 11.67}, {'connected_gene': 'CTSW', 'score': 11.33}, {'connected_gene': 'EFEMP2', 'score': 11.32}, {'connected_gene': 'CFL1', 'score': 11.3}, {'connected_gene': 'EIF1AD', 'score': 11.3}, {'connected_gene': 'BANF1', 'score': 11.3}, {'connected_gene': 'MUS81', 'score': 11.29}, {'connected_gene': 'CST6', 'score': 11.28}, {'connected_gene': 'TSGA10IP', 'score': 10.91}, {'connected_gene': 'LOC105369350', 'score': 0.77}, {'connected_gene': 'LOC105369349', 'score': 0.37}]
chr11 GH11I065927 65927038 65929451 1.34 [{'connected_gene': 'EIF1AD', 'score': 23.09}, {'connected_gene': 'CST6', 'score': 18.14}, {'connected_gene': 'CCDC85B', 'score': 12.38}, {'connected_gene': 'FIBP', 'score': 12.38}, {'connected_gene': 'CTSW', 'score': 12.35}, {'connected_gene': 'SART1', 'score': 12.12}, {'connected_gene': 'FOSL1', 'score': 11.94}, {'connected_gene': 'CFL1', 'score': 11.36}, {'connected_gene': 'MUS81', 'score': 11.35}, {'connected_gene': 'BANF1', 'score': 11.25}, {'connected_gene': 'SNX32', 'score': 10.39}, {'connected_gene': 'PACS1', 'score': 9.74}, {'connected_gene': 'ENSG00000255038', 'score': 9.74}, {'connected_gene': 'ENSG00000255320', 'score': 9.02}, {'connected_gene': 'RELA', 'score': 4.86}, {'connected_gene': 'EHBP1L1', 'score': 2.94}, {'connected_gene': 'AP5B1', 'score': 1.72}, {'connected_gene': 'MAP3K11', 'score': 1.5}, {'connected_gene': 'LOC105369349', 'score': 0.44}, {'connected_gene': 'TSGA10IP', 'score': 0.37}]
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 GH11I065945 65945172 65946419 0.77 [{'connected_gene': 'TSGA10IP', 'score': 550.77}, {'connected_gene': 'LOC105369350', 'score': 550.77}, {'connected_gene': 'DRAP1', 'score': 12.6}, {'connected_gene': 'C11orf68', 'score': 12.6}, {'connected_gene': 'FOSL1', 'score': 12.53}, {'connected_gene': 'EIF1AD', 'score': 11.4}, {'connected_gene': 'BANF1', 'score': 11.4}, {'connected_gene': 'CST6', 'score': 11.38}, {'connected_gene': 'CTSW', 'score': 11.37}, {'connected_gene': 'EFEMP2', 'score': 11.36}, {'connected_gene': 'CFL1', 'score': 11.34}, {'connected_gene': 'MUS81', 'score': 11.33}, {'connected_gene': 'CCDC85B', 'score': 11.18}, {'connected_gene': 'FIBP', 'score': 11.18}, {'connected_gene': 'CATSPER1', 'score': 10.78}, {'connected_gene': 'OVOL1-AS1', 'score': 10.13}, {'connected_gene': 'OVOL1', 'score': 10.12}, {'connected_gene': 'AP5B1', 'score': 10.12}, {'connected_gene': 'SART1', 'score': 0.37}]
chr11 GH11I065811 65811190 65813223 0.72 [{'connected_gene': 'SNX32', 'score': 29.65}, {'connected_gene': 'CTSW', 'score': 27.96}, {'connected_gene': 'MAP3K11', 'score': 21.07}, {'connected_gene': 'OVOL1-AS1', 'score': 12.38}, {'connected_gene': 'OVOL1', 'score': 12.35}, {'connected_gene': 'AP5B1', 'score': 12.33}, {'connected_gene': 'CFL1', 'score': 11.73}, {'connected_gene': 'PCNX3', 'score': 11.01}, {'connected_gene': 'CCDC85B', 'score': 10.92}, {'connected_gene': 'FIBP', 'score': 10.92}, {'connected_gene': 'SART1', 'score': 10.9}, {'connected_gene': 'EIF1AD', 'score': 10.32}, {'connected_gene': 'BANF1', 'score': 10.32}, {'connected_gene': 'CST6', 'score': 10.32}, {'connected_gene': 'KCNK7', 'score': 10.16}, {'connected_gene': 'SSSCA1', 'score': 10.16}, {'connected_gene': 'FAM89B', 'score': 10.15}, {'connected_gene': 'EHBP1L1', 'score': 10.15}, {'connected_gene': 'EFEMP2', 'score': 5.39}, {'connected_gene': 'GC11M065816', 'score': 0.44}, {'connected_gene': 'ENSG00000255404', 'score': 0.39}]
chr11 GH11I065884 65884212 65885857 0.94 [{'connected_gene': 'CTSW', 'score': 51.17}, {'connected_gene': 'FIBP', 'score': 0.77}]
chr11 GH11I065878 65878097 65881762 1.22 [{'connected_gene': 'CTSW', 'score': 601.27}, {'connected_gene': 'SNX32', 'score': 41.98}, {'connected_gene': 'FIBP', 'score': 0.44}]
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 GH11I066743 66743258 66746158 2.25 [{'connected_gene': 'GC11M066742', 'score': 550.77}, {'connected_gene': 'C11orf80', 'score': 550.77}, {'connected_gene': 'EIF1AD', 'score': 25.0}, {'connected_gene': 'RBM14', 'score': 24.34}, {'connected_gene': 'ENSG00000258297', 'score': 22.69}, {'connected_gene': 'MRPL11', 'score': 19.66}, {'connected_gene': 'RBM4', 'score': 17.93}, {'connected_gene': 'KDM2A', 'score': 16.89}, {'connected_gene': 'MUS81', 'score': 15.17}, {'connected_gene': 'RAB1B', 'score': 14.56}, {'connected_gene': 'ENSG00000255320', 'score': 14.53}, {'connected_gene': 'SART1', 'score': 14.39}, {'connected_gene': 'LOC105369352', 'score': 13.77}, {'connected_gene': 'ENSG00000245156', 'score': 12.39}, {'connected_gene': 'RAD9A', 'score': 11.42}, {'connected_gene': 'CLCF1', 'score': 11.13}, {'connected_gene': 'CORO1B', 'score': 10.48}, {'connected_gene': 'BRMS1', 'score': 10.06}, {'connected_gene': 'SF3B2', 'score': 9.69}, {'connected_gene': 'FIBP', 'score': 4.34}, {'connected_gene': 'SPTBN2', 'score': 2.88}, {'connected_gene': 'CNIH2', 'score': 1.9}, {'connected_gene': 'KLC2', 'score': 1.61}, {'connected_gene': 'RBM4B', 'score': 1.44}, {'connected_gene': 'C1QBPP2', 'score': 0.37}]

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