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
ENST00000311034 [[66188474, 66188825], [66189590, 66189742], [66189921, 66190024], [66190144, 66190412], [66190593, 66190703], [66191048, 66191184], [66191305, 66192741], [66193431, 66194178]] [[66188650, 66188825], [66189590, 66189742], [66189921, 66190024], [66190144, 66190412], [66190593, 66190703], [66191048, 66191184], [66191305, 66192741], [66193431, 66193460]]
ENST00000525148 [[66188561, 66188825], [66189590, 66189742], [66189921, 66190024], [66190144, 66190412], [66191048, 66191184], [66191305, 66192741], [66193431, 66193526]] [[66188650, 66188825], [66189590, 66189742], [66189921, 66190024], [66190144, 66190412], [66191048, 66191055]]
ENST00000524617 [[66190354, 66190412], [66191048, 66191316]] None
NM_001318804 [[66188474, 66188825], [66189590, 66189742], [66189921, 66190024], [66190144, 66190412], [66191048, 66191184], [66191305, 66192741], [66193431, 66194177]] [[66190234, 66190412], [66191048, 66191184], [66191305, 66192741], [66193431, 66193460]]
NM_178864 [[66188474, 66188825], [66189590, 66189742], [66189921, 66190024], [66190144, 66190412], [66190593, 66190703], [66191048, 66191184], [66191305, 66192741], [66193431, 66194177]] [[66188650, 66188825], [66189590, 66189742], [66189921, 66190024], [66190144, 66190412], [66190593, 66190703], [66191048, 66191184], [66191305, 66192741], [66193431, 66193460]]
Promoter
Chrom Start End Description
chr11 66188503 66188511 CAGE_peak_1_at_NPAS4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I066413 66413300 66415261 0.49 [{'connected_gene': 'ACTN3', 'score': 21.51}, {'connected_gene': 'C11orf80', 'score': 9.54}, {'connected_gene': 'ENSG00000254458', 'score': 4.5}, {'connected_gene': 'EHBP1L1', 'score': 4.46}, {'connected_gene': 'NPAS4', 'score': 0.44}, {'connected_gene': 'LOC100505504', 'score': 0.44}]
chr11 GH11I066458 66458888 66459948 0.6 [{'connected_gene': 'ACTN3', 'score': 54.53}, {'connected_gene': 'ENSG00000201733', 'score': 12.25}, {'connected_gene': 'LOC100505504', 'score': 11.21}, {'connected_gene': 'NPAS4', 'score': 10.84}, {'connected_gene': 'RNU1-84P', 'score': 10.76}, {'connected_gene': 'BRD9P1', 'score': 10.76}, {'connected_gene': 'ZDHHC24', 'score': 10.6}, {'connected_gene': 'RAD9A', 'score': 9.7}, {'connected_gene': 'GC11P066455', 'score': 0.44}, {'connected_gene': 'MRPL11', 'score': 0.44}, {'connected_gene': 'PELI3', 'score': 0.44}]
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 GH11I066694 66694350 66695350 1.21 [{'connected_gene': 'SPTBN2', 'score': 12.14}, {'connected_gene': 'C11orf80', 'score': 12.09}, {'connected_gene': 'RCE1', 'score': 11.76}, {'connected_gene': 'ZDHHC24', 'score': 10.99}, {'connected_gene': 'ACTN3', 'score': 10.99}, {'connected_gene': 'LRFN4', 'score': 10.7}, {'connected_gene': 'PC', 'score': 10.67}, {'connected_gene': 'RNU7-23P', 'score': 10.47}, {'connected_gene': 'BRD9P1', 'score': 10.26}, {'connected_gene': 'RNU1-84P', 'score': 10.26}, {'connected_gene': 'NPAS4', 'score': 9.9}, {'connected_gene': 'ENSG00000201733', 'score': 9.59}, {'connected_gene': 'RBM4B', 'score': 0.37}, {'connected_gene': 'RN7SL12P', 'score': 0.37}]
chr11 GH11I066417 66417770 66419127 1.17 [{'connected_gene': 'PCNX3', 'score': 16.8}, {'connected_gene': 'RAD9A', 'score': 13.62}, {'connected_gene': 'ENSG00000255038', 'score': 12.63}, {'connected_gene': 'EIF1AD', 'score': 11.8}, {'connected_gene': 'RBM14', 'score': 10.99}, {'connected_gene': 'SF3B2', 'score': 10.87}, {'connected_gene': 'RCE1', 'score': 10.7}, {'connected_gene': 'SART1', 'score': 10.19}, {'connected_gene': 'ZDHHC24', 'score': 9.95}, {'connected_gene': 'TSGA10IP', 'score': 5.31}, {'connected_gene': 'NPAS4', 'score': 0.77}, {'connected_gene': 'LOC100505504', 'score': 0.44}]
chr11 GH11I066421 66421514 66422339 1.12 [{'connected_gene': 'NPAS4', 'score': 550.77}, {'connected_gene': 'ENSG00000258297', 'score': 61.22}, {'connected_gene': 'KDM2A', 'score': 56.87}, {'connected_gene': 'PCNX3', 'score': 56.27}, {'connected_gene': 'RBM14', 'score': 54.97}, {'connected_gene': 'RBM4', 'score': 54.59}, {'connected_gene': 'SART1', 'score': 52.6}, {'connected_gene': 'ENSG00000245156', 'score': 46.05}, {'connected_gene': 'EIF1AD', 'score': 45.24}, {'connected_gene': 'RAD9A', 'score': 43.19}, {'connected_gene': 'KAT5', 'score': 40.63}, {'connected_gene': 'MUS81', 'score': 38.83}, {'connected_gene': 'ENSG00000255320', 'score': 34.49}, {'connected_gene': 'ENSG00000255038', 'score': 30.65}, {'connected_gene': 'SF3B2', 'score': 30.37}, {'connected_gene': 'LOC105369352', 'score': 27.77}, {'connected_gene': 'SCYL1', 'score': 27.75}, {'connected_gene': 'RELA', 'score': 25.45}, {'connected_gene': 'CTSF', 'score': 22.7}, {'connected_gene': 'RCE1', 'score': 21.74}, {'connected_gene': 'BBS1', 'score': 20.09}, {'connected_gene': 'NEAT1', 'score': 19.45}, {'connected_gene': 'SSH3', 'score': 19.26}, {'connected_gene': 'CLCF1', 'score': 18.92}, {'connected_gene': 'CCS', 'score': 18.06}, {'connected_gene': 'RAB1B', 'score': 11.46}, {'connected_gene': 'KLC2', 'score': 11.4}, {'connected_gene': 'MRPL11', 'score': 10.49}, {'connected_gene': 'KRT8P26', 'score': 10.34}, {'connected_gene': 'SSSCA1', 'score': 10.26}, {'connected_gene': 'PELI3', 'score': 10.2}, {'connected_gene': 'BRMS1', 'score': 9.98}, {'connected_gene': 'MALAT1', 'score': 9.91}, {'connected_gene': 'ACTN3', 'score': 8.37}, {'connected_gene': 'ENSG00000201733', 'score': 0.39}]
chr11 GH11I066420 66420986 66421045 0.84 [{'connected_gene': 'NPAS4', 'score': 550.77}, {'connected_gene': 'ENSG00000201733', 'score': 0.39}]
chr11 GH11I065833 65833070 65834663 1.84 [{'connected_gene': 'SNX32', 'score': 623.99}, {'connected_gene': 'MRPL11', 'score': 23.17}, {'connected_gene': 'ZFPL1', 'score': 22.04}, {'connected_gene': 'LOC105369352', 'score': 19.95}, {'connected_gene': 'EIF1AD', 'score': 19.63}, {'connected_gene': 'RBM4B', 'score': 16.58}, {'connected_gene': 'BBS1', 'score': 15.21}, {'connected_gene': 'NAALADL1', 'score': 15.13}, {'connected_gene': 'POLA2', 'score': 14.89}, {'connected_gene': 'MUS81', 'score': 14.61}, {'connected_gene': 'RELA', 'score': 14.2}, {'connected_gene': 'CD248', 'score': 12.21}, {'connected_gene': 'ENSG00000254461', 'score': 11.78}, {'connected_gene': 'FAU', 'score': 11.63}, {'connected_gene': 'KAT5', 'score': 11.24}, {'connected_gene': 'KLC2', 'score': 11.18}, {'connected_gene': 'ENSG00000255320', 'score': 11.14}, {'connected_gene': 'SART1', 'score': 10.85}, {'connected_gene': 'FRMD8', 'score': 10.79}, {'connected_gene': 'ENSG00000258297', 'score': 10.6}, {'connected_gene': 'RBM14', 'score': 10.56}, {'connected_gene': 'PCNX3', 'score': 10.53}, {'connected_gene': 'NPAS4', 'score': 10.09}, {'connected_gene': 'CTSF', 'score': 10.05}, {'connected_gene': 'EFEMP2', 'score': 8.59}, {'connected_gene': 'OVOL1-AS1', 'score': 5.93}, {'connected_gene': 'CFL1', 'score': 0.31}]
chr11 GH11I066454 66454309 66454495 0.37 [{'connected_gene': 'LOC100505524', 'score': 550.77}, {'connected_gene': 'GC11P066455', 'score': 550.77}, {'connected_gene': 'LOC101928069', 'score': 12.25}, {'connected_gene': 'DPP3', 'score': 12.25}, {'connected_gene': 'RBM4', 'score': 11.5}, {'connected_gene': 'NPAS4', 'score': 11.44}, {'connected_gene': 'LOC100505504', 'score': 11.33}, {'connected_gene': 'RNU1-84P', 'score': 11.09}, {'connected_gene': 'BRD9P1', 'score': 11.09}, {'connected_gene': 'CD248', 'score': 9.62}, {'connected_gene': 'MRPL11', 'score': 0.39}, {'connected_gene': 'PELI3', 'score': 0.39}]
chr11 GH11I066408 66408409 66411181 1.47 [{'connected_gene': 'LOC100505504', 'score': 556.29}, {'connected_gene': 'RIN1', 'score': 14.94}, {'connected_gene': 'ACTN3', 'score': 13.59}, {'connected_gene': 'ENSG00000201733', 'score': 11.51}, {'connected_gene': 'SLC29A2', 'score': 11.29}, {'connected_gene': 'MRPL11', 'score': 11.16}, {'connected_gene': 'PELI3', 'score': 11.16}, {'connected_gene': 'LOC101928069', 'score': 11.13}, {'connected_gene': 'DPP3', 'score': 11.13}, {'connected_gene': 'ENSG00000255320', 'score': 9.58}, {'connected_gene': 'PACS1', 'score': 9.54}, {'connected_gene': 'NPAS4', 'score': 0.39}]
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 GH11I066430 66430090 66430259 0.65 [{'connected_gene': 'ENSG00000201733', 'score': 0.77}, {'connected_gene': 'NPAS4', 'score': 0.44}]

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