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
ENST00000314067 [[76452095, 76452183], [76455227, 76455320], [76488669, 76488737], [76524984, 76525017], [76525669, 76525716], [76548637, 76548710], [76548959, 76549035], [76549569, 76549632], [76549800, 76550092]] [[76452129, 76452183], [76455227, 76455320], [76488669, 76488737], [76524984, 76525017], [76525669, 76525716], [76548637, 76548710], [76548959, 76549035], [76549569, 76549632], [76549800, 76549920]]
ENST00000542766 [[76452112, 76452183], [76455227, 76455320], [76488669, 76488737], [76524984, 76525017], [76525669, 76525716], [76548637, 76548710], [76548959, 76549035], [76549569, 76549632], [76549800, 76549979], [76550105, 76550416]] [[76452129, 76452183], [76455227, 76455320], [76488669, 76488737], [76524984, 76525017], [76525669, 76525716], [76548637, 76548710], [76548959, 76549035], [76549569, 76549632], [76549800, 76549920]]
ENST00000554026 [[76452122, 76452183], [76455227, 76455320], [76488669, 76488737], [76524984, 76525017], [76525669, 76525716], [76542939, 76543034], [76548637, 76549035], [76549569, 76549632], [76549800, 76550044]] None
ENST00000555305 [[76452122, 76452183], [76455227, 76455320], [76488669, 76488737], [76524984, 76525017], [76525669, 76525716], [76548637, 76549035], [76549569, 76549632], [76549800, 76549979], [76550105, 76550928]] None
ENST00000238628 [[76452124, 76452183], [76455227, 76455320], [76488669, 76488737], [76542939, 76543034], [76548637, 76548710], [76548959, 76549035], [76549569, 76549632], [76549800, 76550089]] [[76452129, 76452183], [76455227, 76455320], [76488669, 76488737], [76542939, 76543034], [76548637, 76548710], [76548959, 76549035], [76549569, 76549632], [76549800, 76549920]]
ENST00000553438 [[76488667, 76488737], [76504421, 76504492], [76548637, 76548968]] None
ENST00000555677 [[76368478, 76368567], [76455227, 76455320], [76488669, 76488974]] None
ENST00000555370 [[76452124, 76452183], [76452468, 76452625], [76455227, 76455320], [76488669, 76488737], [76524984, 76525017], [76525669, 76525719]] [[76452129, 76452183], [76452468, 76452513]]
ENST00000556742 [[76452126, 76452183], [76455227, 76455320], [76488669, 76488737], [76524984, 76525614]] [[76452129, 76452183], [76455227, 76455320], [76488669, 76488737], [76524984, 76525111]]
ENST00000553338 [[76452136, 76452651], [76455227, 76455320], [76488669, 76488745]] None
ENST00000554423 [[76524513, 76525017], [76525669, 76525691]] None
ENST00000554233 [[76524666, 76525017], [76525669, 76525953]] None
NM_052873 [[76452095, 76452183], [76455227, 76455320], [76488669, 76488737], [76542939, 76543034], [76548637, 76548710], [76548959, 76549035], [76549569, 76549632], [76549800, 76550092]] [[76452129, 76452183], [76455227, 76455320], [76488669, 76488737], [76542939, 76543034], [76548637, 76548710], [76548959, 76549035], [76549569, 76549632], [76549800, 76549920]]
NM_001102564 [[76452095, 76452183], [76455227, 76455320], [76488669, 76488737], [76524984, 76525017], [76525669, 76525716], [76548637, 76548710], [76548959, 76549035], [76549569, 76549632], [76549800, 76550092]] [[76452129, 76452183], [76455227, 76455320], [76488669, 76488737], [76524984, 76525017], [76525669, 76525716], [76548637, 76548710], [76548959, 76549035], [76549569, 76549632], [76549800, 76549920]]
NR_045664 [[76452095, 76452183], [76455227, 76455320], [76488669, 76488737], [76548637, 76548710], [76548959, 76549035], [76549569, 76549632], [76549800, 76549979], [76550105, 76550416]] None
NR_045665 [[76452095, 76452183], [76455227, 76455320], [76488669, 76488737], [76524984, 76525017], [76525669, 76525716], [76548637, 76548710], [76548959, 76549035], [76549569, 76549632], [76549800, 76549979], [76550105, 76550416]] None
NM_001255995 [[76452095, 76452183], [76455227, 76455320], [76488669, 76488737], [76524984, 76525634]] [[76452129, 76452183], [76455227, 76455320], [76488669, 76488737], [76524984, 76525111]]
Promoter
Chrom Start End Description
chr14 76452090 76452134 CAGE_peak_1_at_IFT43_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I075249 75249038 75261045 2.69 [{'connected_gene': 'NEK9', 'score': 21.0}, {'connected_gene': 'GPATCH2L', 'score': 10.22}, {'connected_gene': 'IFT43', 'score': 6.53}, {'connected_gene': 'FOS', 'score': 5.48}, {'connected_gene': 'ABCD4', 'score': 4.69}, {'connected_gene': 'ENSG00000258740', 'score': 4.59}, {'connected_gene': 'YLPM1', 'score': 1.41}, {'connected_gene': 'LOC105370571', 'score': 0.77}, {'connected_gene': 'RNU4ATAC14P', 'score': 0.23}]
chr14 GH14I075983 75983549 75984441 0.31 [{'connected_gene': 'TGFB3', 'score': 550.77}, {'connected_gene': 'RPL22P2', 'score': 14.69}, {'connected_gene': 'NEK9', 'score': 11.36}, {'connected_gene': 'LOC100506576', 'score': 0.31}, {'connected_gene': 'IFT43', 'score': 0.18}]
chr14 GH14I075906 75906798 75906947 0.6 [{'connected_gene': 'TGFB3', 'score': 11.69}, {'connected_gene': 'IFT43', 'score': 0.77}, {'connected_gene': 'TGFB3-AS1', 'score': 0.21}, {'connected_gene': 'TTLL5', 'score': 0.06}]
chr14 GH14I075979 75979315 75983460 2.22 [{'connected_gene': 'TGFB3', 'score': 557.2}, {'connected_gene': 'IFT43', 'score': 10.61}, {'connected_gene': 'TGFB3-AS1', 'score': 0.39}]
chr14 GH14I075904 75904920 75906636 0.85 [{'connected_gene': 'TGFB3', 'score': 16.55}, {'connected_gene': 'LOC102724153', 'score': 4.46}, {'connected_gene': 'IFT43', 'score': 0.77}, {'connected_gene': 'TGFB3-AS1', 'score': 0.2}, {'connected_gene': 'TTLL5', 'score': 0.06}]
chr14 GH14I075991 75991370 75992494 0.58 [{'connected_gene': 'TGFB3', 'score': 0.44}, {'connected_gene': 'LOC100506576', 'score': 0.34}, {'connected_gene': 'IFT43', 'score': 0.17}]
chr14 GH14I075988 75988525 75990297 1.24 [{'connected_gene': 'TGFB3', 'score': 0.44}, {'connected_gene': 'LOC100506576', 'score': 0.34}, {'connected_gene': 'IFT43', 'score': 0.17}]
chr14 GH14I076767 76767379 76769592 1.23 [{'connected_gene': 'VIPAS39', 'score': 47.73}, {'connected_gene': 'SNW1', 'score': 37.99}, {'connected_gene': 'ALKBH1', 'score': 37.6}, {'connected_gene': 'ZMYND19P1', 'score': 36.1}, {'connected_gene': 'GPATCH2L', 'score': 33.25}, {'connected_gene': 'RPL22P2', 'score': 32.55}, {'connected_gene': 'IRF2BPL', 'score': 24.3}, {'connected_gene': 'RPL21P10', 'score': 20.19}, {'connected_gene': 'POMT2', 'score': 19.55}, {'connected_gene': 'ENSG00000259081', 'score': 16.72}, {'connected_gene': 'VASH1', 'score': 11.56}, {'connected_gene': 'IFT43', 'score': 10.29}, {'connected_gene': 'NGB', 'score': 9.8}, {'connected_gene': 'ENSG00000258610', 'score': 0.39}]
chr14 GH14I075820 75820948 75827035 1.28 [{'connected_gene': 'FLVCR2', 'score': 19.81}, {'connected_gene': 'IFT43', 'score': 10.42}, {'connected_gene': 'TTLL5', 'score': 4.92}, {'connected_gene': 'RPS2P43', 'score': 0.37}, {'connected_gene': 'ENSG00000259103', 'score': 0.34}, {'connected_gene': 'GC14P075681', 'score': 0.11}]
chr14 GH14I075720 75720111 75721487 0.4 [{'connected_gene': 'FLVCR2', 'score': 15.22}, {'connected_gene': 'IFT43', 'score': 9.77}, {'connected_gene': 'GC14P075681', 'score': 0.26}, {'connected_gene': 'TTLL5', 'score': 0.17}, {'connected_gene': 'RPS2P43', 'score': 0.13}]
chr14 GH14I075701 75701736 75703596 0.2 [{'connected_gene': 'FLVCR2', 'score': 19.53}, {'connected_gene': 'IFT43', 'score': 10.38}, {'connected_gene': 'GC14P075681', 'score': 0.34}, {'connected_gene': 'TTLL5', 'score': 0.2}, {'connected_gene': 'RPS2P43', 'score': 0.12}]
chr14 GH14I075866 75866771 75869806 1.26 [{'connected_gene': 'FLVCR2', 'score': 19.04}, {'connected_gene': 'IFT43', 'score': 11.55}, {'connected_gene': 'ENSG00000259103', 'score': 0.34}, {'connected_gene': 'TTLL5', 'score': 0.07}]
chr14 GH14I075885 75885459 75887278 0.51 [{'connected_gene': 'FLVCR2', 'score': 14.62}, {'connected_gene': 'IFT43', 'score': 0.37}, {'connected_gene': 'ENSG00000259103', 'score': 0.28}, {'connected_gene': 'TTLL5', 'score': 0.07}]
chr14 GH14I075883 75883806 75885067 0.58 [{'connected_gene': 'FLVCR2', 'score': 10.97}, {'connected_gene': 'IFT43', 'score': 0.37}, {'connected_gene': 'ENSG00000259103', 'score': 0.28}, {'connected_gene': 'TTLL5', 'score': 0.07}]
chr14 GH14I075860 75860666 75861692 0.99 [{'connected_gene': 'FLVCR2', 'score': 11.9}, {'connected_gene': 'IFT43', 'score': 10.16}, {'connected_gene': 'ENSG00000259103', 'score': 0.39}, {'connected_gene': 'TTLL5', 'score': 0.07}]
chr14 GH14I075876 75876564 75879946 1.24 [{'connected_gene': 'FLVCR2', 'score': 18.64}, {'connected_gene': 'IFT43', 'score': 11.59}, {'connected_gene': 'ENSG00000259103', 'score': 0.29}, {'connected_gene': 'TTLL5', 'score': 0.07}]
chr14 GH14I075644 75644098 75651457 1.41 [{'connected_gene': 'FLVCR2', 'score': 32.95}, {'connected_gene': 'LOC102724153', 'score': 12.22}, {'connected_gene': 'TTLL5', 'score': 10.5}, {'connected_gene': 'BATF', 'score': 10.11}, {'connected_gene': 'IFT43', 'score': 8.93}, {'connected_gene': 'GC14M075659', 'score': 0.39}, {'connected_gene': 'ERG28', 'score': 0.39}]
chr14 GH14I075553 75553855 75555432 0.91 [{'connected_gene': 'FLVCR2', 'score': 17.43}, {'connected_gene': 'LOC102724153', 'score': 12.31}, {'connected_gene': 'BATF', 'score': 12.04}, {'connected_gene': 'TTLL5', 'score': 10.45}, {'connected_gene': 'JDP2', 'score': 9.97}, {'connected_gene': 'IFT43', 'score': 8.69}, {'connected_gene': 'PIR35535', 'score': 0.44}]
chr14 GH14I075303 75303598 75303767 0.91 [{'connected_gene': 'MLH3', 'score': 15.63}, {'connected_gene': 'YLPM1', 'score': 13.52}, {'connected_gene': 'JDP2', 'score': 11.32}, {'connected_gene': 'PROX2', 'score': 11.05}, {'connected_gene': 'NEK9', 'score': 11.02}, {'connected_gene': 'IFT43', 'score': 11.0}, {'connected_gene': 'ENSG00000258646', 'score': 10.98}, {'connected_gene': 'LINC01220', 'score': 0.44}]
chr14 GH14I076006 76006991 76008948 0.2 [{'connected_gene': 'TTLL5', 'score': 4.98}, {'connected_gene': 'LOC100506576', 'score': 0.44}, {'connected_gene': 'TGFB3', 'score': 0.34}, {'connected_gene': 'IFT43', 'score': 0.14}]
chr14 GH14I076760 76760678 76763401 1.97 [{'connected_gene': 'VASH1', 'score': 550.77}, {'connected_gene': 'ENSG00000258569', 'score': 550.77}, {'connected_gene': 'POMT2', 'score': 12.31}, {'connected_gene': 'IFT43', 'score': 11.19}, {'connected_gene': 'ENSG00000258610', 'score': 0.37}]
chr14 GH14I075935 75935079 75935300 0.8 [{'connected_gene': 'IFT43', 'score': 10.92}, {'connected_gene': 'TGFB3', 'score': 1.51}, {'connected_gene': 'ESRRB', 'score': 1.13}, {'connected_gene': 'TGFB3-AS1', 'score': 0.28}, {'connected_gene': 'TTLL5', 'score': 0.06}]
chr14 GH14I075980 75978496 75978637 0.75 [{'connected_gene': 'IFT43', 'score': 10.61}, {'connected_gene': 'TGFB3', 'score': 4.08}, {'connected_gene': 'ESRRB', 'score': 1.38}, {'connected_gene': 'TGFB3-AS1', 'score': 0.44}]
chr14 GH14I075978 75978881 75979107 0.58 [{'connected_gene': 'IFT43', 'score': 10.61}, {'connected_gene': 'TGFB3', 'score': 0.77}, {'connected_gene': 'TGFB3-AS1', 'score': 0.44}]
chr14 GH14I075977 75977874 75978307 0.79 [{'connected_gene': 'IFT43', 'score': 10.61}, {'connected_gene': 'TGFB3', 'score': 6.04}, {'connected_gene': 'TGFB3-AS1', 'score': 0.44}]
chr14 GH14I075877 75876003 75876227 1.1 [{'connected_gene': 'IFT43', 'score': 11.57}, {'connected_gene': 'TGFB3', 'score': 1.86}, {'connected_gene': 'BATF', 'score': 1.82}, {'connected_gene': 'ENSG00000259103', 'score': 0.31}, {'connected_gene': 'TTLL5', 'score': 0.07}]
chr14 GH14I075984 75984586 75987111 2.08 [{'connected_gene': 'IFT43', 'score': 550.18}, {'connected_gene': 'TGFB3', 'score': 0.77}, {'connected_gene': 'LOC100506576', 'score': 0.31}]
chr14 GH14I075777 75777602 75777758 0.22 [{'connected_gene': 'IFT43', 'score': 10.67}, {'connected_gene': 'TGFB3', 'score': 1.32}, {'connected_gene': 'RPS2P43', 'score': 0.21}, {'connected_gene': 'GC14P075681', 'score': 0.15}, {'connected_gene': 'TTLL5', 'score': 0.11}]
chr14 GH14I076112 76112922 76114447 0.46 [{'connected_gene': 'IFT43', 'score': 4.89}, {'connected_gene': 'PIR42300', 'score': 0.31}, {'connected_gene': 'GPATCH2L', 'score': 0.28}]
chr14 GH14I075992 75992685 75997277 1.42 [{'connected_gene': 'IFT43', 'score': 19.29}, {'connected_gene': 'FLVCR2', 'score': 5.85}, {'connected_gene': 'TTLL5', 'score': 4.98}, {'connected_gene': 'TGFB3', 'score': 0.39}, {'connected_gene': 'LOC100506576', 'score': 0.37}]
chr14 GH14I075711 75711056 75713489 1.13 [{'connected_gene': 'IFT43', 'score': 11.12}, {'connected_gene': 'FLVCR2', 'score': 10.09}, {'connected_gene': 'GC14P075681', 'score': 0.29}, {'connected_gene': 'TTLL5', 'score': 0.18}, {'connected_gene': 'RPS2P43', 'score': 0.13}]
chr14 GH14I075959 75959584 75961021 0.76 [{'connected_gene': 'IFT43', 'score': 10.56}, {'connected_gene': 'FLVCR2', 'score': 7.56}, {'connected_gene': 'TGFB3-AS1', 'score': 0.39}, {'connected_gene': 'TGFB3', 'score': 0.34}]
chr14 GH14I075925 75925958 75927036 0.38 [{'connected_gene': 'IFT43', 'score': 11.52}, {'connected_gene': 'FLVCR2', 'score': 7.48}, {'connected_gene': 'TGFB3-AS1', 'score': 0.26}, {'connected_gene': 'TTLL5', 'score': 0.06}]
chr14 GH14I075927 75927204 75928234 0.38 [{'connected_gene': 'IFT43', 'score': 11.5}, {'connected_gene': 'FLVCR2', 'score': 7.48}, {'connected_gene': 'TGFB3-AS1', 'score': 0.26}, {'connected_gene': 'TTLL5', 'score': 0.06}]
chr14 GH14I075946 75946014 75947674 0.38 [{'connected_gene': 'IFT43', 'score': 10.88}, {'connected_gene': 'FLVCR2', 'score': 7.48}, {'connected_gene': 'TGFB3-AS1', 'score': 0.34}, {'connected_gene': 'TTLL5', 'score': 0.06}]
chr14 GH14I075997 75997985 75999107 0.2 [{'connected_gene': 'IFT43', 'score': 19.3}, {'connected_gene': 'TTLL5', 'score': 4.57}, {'connected_gene': 'TGFB3', 'score': 0.37}, {'connected_gene': 'LOC100506576', 'score': 0.37}]
chr14 GH14I075865 75865313 75865835 0.4 [{'connected_gene': 'IFT43', 'score': 11.14}, {'connected_gene': 'ENSG00000259103', 'score': 0.37}, {'connected_gene': 'TTLL5', 'score': 0.07}]
chr14 GH14I075928 75928601 75929378 0.82 [{'connected_gene': 'IFT43', 'score': 11.26}, {'connected_gene': 'ESRRB', 'score': 1.95}, {'connected_gene': 'TGFB3', 'score': 1.52}, {'connected_gene': 'TGFB3-AS1', 'score': 0.26}, {'connected_gene': 'TTLL5', 'score': 0.06}]
chr14 GH14I075953 75953179 75954071 0.2 [{'connected_gene': 'IFT43', 'score': 10.85}, {'connected_gene': 'TGFB3-AS1', 'score': 0.37}, {'connected_gene': 'TTLL5', 'score': 0.05}]
chr14 GH14I075940 75940776 75941838 0.4 [{'connected_gene': 'IFT43', 'score': 10.9}, {'connected_gene': 'TGFB3-AS1', 'score': 0.31}, {'connected_gene': 'TTLL5', 'score': 0.06}]
chr14 GH14I075954 75954139 75957981 0.65 [{'connected_gene': 'IFT43', 'score': 10.85}, {'connected_gene': 'TGFB3-AS1', 'score': 0.39}, {'connected_gene': 'TTLL5', 'score': 0.05}]
chr14 GH14I075917 75917498 75917647 0.46 [{'connected_gene': 'IFT43', 'score': 0.37}, {'connected_gene': 'TGFB3-AS1', 'score': 0.23}, {'connected_gene': 'TTLL5', 'score': 0.06}]
chr14 GH14I076000 76000483 76000923 0.2 [{'connected_gene': 'IFT43', 'score': 10.2}, {'connected_gene': 'LOC100506576', 'score': 0.39}, {'connected_gene': 'TGFB3', 'score': 0.37}]
chr14 GH14I075999 75999551 76000129 0.2 [{'connected_gene': 'IFT43', 'score': 19.03}, {'connected_gene': 'LOC100506576', 'score': 0.39}, {'connected_gene': 'TGFB3', 'score': 0.37}]
chr14 GH14I075769 75769418 75769567 0.56 [{'connected_gene': 'IFT43', 'score': 9.56}, {'connected_gene': 'RPS2P43', 'score': 0.2}, {'connected_gene': 'GC14P075681', 'score': 0.17}, {'connected_gene': 'TTLL5', 'score': 0.12}]
chr14 GH14I075770 75769178 75769327 0.54 [{'connected_gene': 'IFT43', 'score': 9.56}, {'connected_gene': 'RPS2P43', 'score': 0.2}, {'connected_gene': 'GC14P075681', 'score': 0.17}, {'connected_gene': 'TTLL5', 'score': 0.12}]
chr14 GH14I075810 75810835 75812951 0.56 [{'connected_gene': 'IFT43', 'score': 10.33}, {'connected_gene': 'RPS2P43', 'score': 0.31}, {'connected_gene': 'GC14P075681', 'score': 0.12}, {'connected_gene': 'TTLL5', 'score': 0.1}]
chr14 GH14I076034 76034986 76035354 0.51 [{'connected_gene': 'IFT43', 'score': 10.01}, {'connected_gene': 'GC14P076014', 'score': 0.34}, {'connected_gene': 'PIR49095', 'score': 0.26}]
chr14 GH14I076051 76051858 76051987 0.2 [{'connected_gene': 'IFT43', 'score': 7.93}, {'connected_gene': 'PIR49095', 'score': 0.31}, {'connected_gene': 'GC14P076014', 'score': 0.28}]
chr14 GH14I075967 75967823 75974811 0.56 [{'connected_gene': 'TGFB3-AS1', 'score': 550.77}, {'connected_gene': 'IFT43', 'score': 12.38}, {'connected_gene': 'TTLL5', 'score': 6.65}, {'connected_gene': 'TGFB3', 'score': 5.3}]
chr14 GH14I075911 75911908 75913608 0.31 [{'connected_gene': 'LOC102724153', 'score': 5.12}, {'connected_gene': 'IFT43', 'score': 0.39}, {'connected_gene': 'TGFB3-AS1', 'score': 0.22}, {'connected_gene': 'TTLL5', 'score': 0.06}]
chr14 GH14I076010 76010986 76015860 1.14 [{'connected_gene': 'LOC100506576', 'score': 550.77}, {'connected_gene': 'GC14P076014', 'score': 550.77}, {'connected_gene': 'TTLL5', 'score': 5.18}, {'connected_gene': 'TGFB3', 'score': 0.29}, {'connected_gene': 'IFT43', 'score': 0.14}]
chr14 GH14I076085 76085272 76087712 0.2 [{'connected_gene': 'PIR42300', 'score': 550.77}, {'connected_gene': 'IFT43', 'score': 7.74}, {'connected_gene': 'GPATCH2L', 'score': 0.2}]
chr14 GH14I075864 75864358 75864587 0.66 [{'connected_gene': 'ENSG00000259103', 'score': 0.37}, {'connected_gene': 'IFT43', 'score': 0.28}, {'connected_gene': 'TTLL5', 'score': 0.07}]
chr14 GH14I076079 76079738 76080522 0.2 [{'connected_gene': 'PIR49095', 'score': 550.77}, {'connected_gene': 'IFT43', 'score': 10.58}, {'connected_gene': 'LOC105370573', 'score': 0.77}]
chr14 GH14I076083 76083800 76085194 0.43 [{'connected_gene': 'PIR42300', 'score': 550.77}, {'connected_gene': 'IFT43', 'score': 10.77}, {'connected_gene': 'LOC105370573', 'score': 0.77}]
chr14 GH14I076075 76075617 76075877 0.4 [{'connected_gene': 'PIR49095', 'score': 0.77}, {'connected_gene': 'GC14P076014', 'score': 0.21}, {'connected_gene': 'IFT43', 'score': 0.09}]
chr14 GH14I076050 76050938 76051067 0.57 [{'connected_gene': 'PIR49095', 'score': 0.31}, {'connected_gene': 'GC14P076014', 'score': 0.28}, {'connected_gene': 'IFT43', 'score': 0.11}]

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