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
ENST00000366779 [[227085236, 227087256], [227096222, 227096384], [227097402, 227097495], [227098289, 227098458], [227105227, 227105361], [227127108, 227127292], [227149077, 227149263], [227152700, 227153111], [227153371, 227153438], [227165149, 227165224], [227169727, 227169850], [227170378, 227170464], [227170594, 227170735], [227171252, 227171334], [227171461, 227171555], [227171794, 227171936], [227172248, 227172356], [227172576, 227172642], [227172954, 227173041], [227174153, 227175246]] [[227149086, 227149263], [227152700, 227153111], [227153371, 227153438], [227165149, 227165224], [227169727, 227169850], [227170378, 227170464], [227170594, 227170735], [227171252, 227171334], [227171461, 227171555], [227171794, 227171936], [227172248, 227172356], [227172576, 227172642], [227172954, 227173041], [227174153, 227174438]]
ENST00000366778 [[227127986, 227128100], [227149208, 227149263], [227152700, 227153111], [227153371, 227153438], [227165149, 227165224], [227169727, 227169850], [227170378, 227170464], [227170594, 227170735], [227171252, 227171334], [227171461, 227171555], [227171794, 227171936], [227172248, 227172356], [227172576, 227172642], [227172954, 227173041], [227174153, 227175245]] [[227149242, 227149263], [227152700, 227153111], [227153371, 227153438], [227165149, 227165224], [227169727, 227169850], [227170378, 227170464], [227170594, 227170735], [227171252, 227171334], [227171461, 227171555], [227171794, 227171936], [227172248, 227172356], [227172576, 227172642], [227172954, 227173041], [227174153, 227174438]]
ENST00000366777 [[227127988, 227128100], [227149077, 227149263], [227152700, 227153111], [227153371, 227153438], [227165149, 227165224], [227169727, 227169850], [227170378, 227170464], [227170594, 227170735], [227171252, 227171334], [227171461, 227171555], [227171794, 227171936], [227172248, 227172356], [227172576, 227172642], [227172954, 227173041], [227174153, 227175245]] [[227149086, 227149263], [227152700, 227153111], [227153371, 227153438], [227165149, 227165224], [227169727, 227169850], [227170378, 227170464], [227170594, 227170735], [227171252, 227171334], [227171461, 227171555], [227171794, 227171936], [227172248, 227172356], [227172576, 227172642], [227172954, 227173041], [227174153, 227174438]]
ENST00000458507 [[227127994, 227128100], [227165149, 227165224], [227169727, 227169850], [227170378, 227170464], [227170594, 227170735], [227171252, 227171334], [227171461, 227171555], [227171794, 227171936], [227172248, 227172356], [227172576, 227172642], [227172954, 227173041], [227174153, 227175050]] [[227169834, 227169850], [227170378, 227170464], [227170594, 227170735], [227171252, 227171334], [227171461, 227171555], [227171794, 227171936], [227172248, 227172356], [227172576, 227172642], [227172954, 227173041], [227174153, 227174438]]
ENST00000478406 [[227127994, 227128100], [227165149, 227165224], [227169727, 227170464], [227170594, 227171936], [227172248, 227172356], [227172576, 227172642], [227172954, 227173041], [227174153, 227175244]] None
ENST00000489044 [[227128079, 227128281], [227149077, 227149263], [227152700, 227153111], [227153371, 227153438], [227165149, 227165224]] None
ENST00000485677 [[227087105, 227087256], [227091202, 227091500]] None
ENST00000433743 [[227153381, 227153438], [227165149, 227165224], [227169727, 227169850], [227170378, 227170464], [227171252, 227171334], [227171461, 227171555], [227171794, 227171936], [227172248, 227172356], [227172576, 227172642], [227172954, 227173041], [227174153, 227174469]] [[227169834, 227169850], [227170378, 227170464], [227171252, 227171334], [227171461, 227171555], [227171794, 227171936], [227172248, 227172356], [227172576, 227172642], [227172954, 227173041], [227174153, 227174438]]
ENST00000476488 [[227162555, 227162780], [227165149, 227165188]] None
ENST00000485462 [[227165104, 227165224], [227169727, 227169850], [227170378, 227170464], [227170594, 227170735], [227171252, 227171334], [227171461, 227171555], [227171794, 227171936], [227172248, 227172356], [227172576, 227172642], [227172954, 227173041], [227174153, 227175245]] None
ENST00000479852 [[227170707, 227170735], [227171252, 227171334], [227171461, 227171936], [227172248, 227172356], [227172576, 227172642], [227172954, 227173041], [227174153, 227175245]] None
ENST00000464693 [[227171252, 227171334], [227171461, 227171555], [227171794, 227171875], [227175073, 227175236]] None
NM_020247 [[227127937, 227128100], [227149077, 227149263], [227152700, 227153111], [227153371, 227153438], [227165149, 227165224], [227169727, 227169850], [227170378, 227170464], [227170594, 227170735], [227171252, 227171334], [227171461, 227171555], [227171794, 227171936], [227172248, 227172356], [227172576, 227172642], [227172954, 227173041], [227174153, 227175246]] [[227149086, 227149263], [227152700, 227153111], [227153371, 227153438], [227165149, 227165224], [227169727, 227169850], [227170378, 227170464], [227170594, 227170735], [227171252, 227171334], [227171461, 227171555], [227171794, 227171936], [227172248, 227172356], [227172576, 227172642], [227172954, 227173041], [227174153, 227174438]]
Promoter
Chrom Start End Description
chr1 227127954 227127965 CAGE_peak_3_at_ADCK3_5end
chr1 227127981 227128012 CAGE_peak_1_at_ADCK3_5end
chr1 227128015 227128032 CAGE_peak_2_at_ADCK3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I227370 227370600 227370801 0.63 [{'connected_gene': 'CDC42BPA', 'score': 10.69}, {'connected_gene': 'COQ8A', 'score': 9.1}, {'connected_gene': 'LINC01641', 'score': 0.34}]
chr1 GH01I227225 227225132 227226548 0.83 [{'connected_gene': 'CDC42BPA', 'score': 21.91}, {'connected_gene': 'COQ8A', 'score': 4.8}, {'connected_gene': 'LOC100418874', 'score': 0.44}, {'connected_gene': 'ENSG00000228625', 'score': 0.25}]
chr1 GH01I226952 226952405 226955803 0.54 [{'connected_gene': 'CDC42BPA', 'score': 18.5}, {'connected_gene': 'ZNF678', 'score': 14.69}, {'connected_gene': 'COQ8A', 'score': 9.67}, {'connected_gene': 'ENSG00000228525', 'score': 0.77}, {'connected_gene': 'GC01M226920', 'score': 0.31}, {'connected_gene': 'GC01P226914', 'score': 0.26}]
chr1 GH01I226943 226943102 226947472 1.36 [{'connected_gene': 'CDC42BPA', 'score': 25.41}, {'connected_gene': 'ZNF678', 'score': 22.85}, {'connected_gene': 'LINC01703', 'score': 11.53}, {'connected_gene': 'ENSG00000228525', 'score': 0.39}, {'connected_gene': 'GC01P226914', 'score': 0.29}, {'connected_gene': 'GC01M226920', 'score': 0.28}, {'connected_gene': 'COQ8A', 'score': 0.25}]
chr1 GH01I227308 227308364 227309224 0.54 [{'connected_gene': 'CDC42BPA', 'score': 9.53}, {'connected_gene': 'LINC01641', 'score': 9.15}, {'connected_gene': 'COQ8A', 'score': 4.23}, {'connected_gene': 'GC01M227291', 'score': 0.44}]
chr1 GH01I226976 226976253 226978788 0.69 [{'connected_gene': 'ACBD3', 'score': 24.71}, {'connected_gene': 'ACBD3-AS1', 'score': 20.61}, {'connected_gene': 'COQ8A', 'score': 19.69}, {'connected_gene': 'ZNF678', 'score': 12.48}, {'connected_gene': 'CDC42BPA', 'score': 5.43}, {'connected_gene': 'GC01M226920', 'score': 0.77}, {'connected_gene': 'LOC105379282', 'score': 0.44}]
chr1 GH01I226937 226937814 226942228 2.54 [{'connected_gene': 'COQ8A', 'score': 560.68}, {'connected_gene': 'CDC42BPA', 'score': 32.56}, {'connected_gene': 'ZNF678', 'score': 14.69}, {'connected_gene': 'ACBD3', 'score': 12.43}, {'connected_gene': 'SDE2', 'score': 11.7}, {'connected_gene': 'LINC01703', 'score': 11.53}, {'connected_gene': 'ENSG00000228525', 'score': 0.37}, {'connected_gene': 'GC01P226914', 'score': 0.31}, {'connected_gene': 'GC01M226920', 'score': 0.26}]
chr1 GH01I226972 226972654 226976175 1.22 [{'connected_gene': 'COQ8A', 'score': 22.36}, {'connected_gene': 'CDC42BPA', 'score': 7.27}, {'connected_gene': 'LOC105379282', 'score': 0.77}, {'connected_gene': 'GC01M226920', 'score': 0.44}]
chr1 GH01I226963 226963895 226964892 0.63 [{'connected_gene': 'COQ8A', 'score': 25.07}, {'connected_gene': 'CDC42BPA', 'score': 5.73}, {'connected_gene': 'ENSG00000228525', 'score': 0.44}, {'connected_gene': 'LOC105379282', 'score': 0.44}, {'connected_gene': 'GC01M226920', 'score': 0.37}]
chr1 GH01I226984 226984223 226986387 0.82 [{'connected_gene': 'COQ8A', 'score': 42.32}, {'connected_gene': 'CDC42BPA', 'score': 7.25}, {'connected_gene': 'GC01M226920', 'score': 0.77}, {'connected_gene': 'ENSG00000233706', 'score': 0.44}]
chr1 GH01I227101 227101676 227102398 0.2 [{'connected_gene': 'COQ8A', 'score': 13.55}, {'connected_gene': 'CDC42BPA', 'score': 10.86}, {'connected_gene': 'GC01P227094', 'score': 0.44}, {'connected_gene': 'GC01P227159', 'score': 0.22}]
chr1 GH01I226993 226993804 226994718 0.74 [{'connected_gene': 'COQ8A', 'score': 29.09}, {'connected_gene': 'CDC42BPA', 'score': 5.44}, {'connected_gene': 'ENSG00000233706', 'score': 0.77}, {'connected_gene': 'GC01P227049', 'score': 0.22}]
chr1 GH01I226987 226987190 226991806 1.27 [{'connected_gene': 'COQ8A', 'score': 42.06}, {'connected_gene': 'CDC42BPA', 'score': 9.72}, {'connected_gene': 'ENSG00000233706', 'score': 0.77}, {'connected_gene': 'GC01M226920', 'score': 0.44}]
chr1 GH01I227135 227135060 227135209 0.68 [{'connected_gene': 'COQ8A', 'score': 9.64}, {'connected_gene': 'GC01P227159', 'score': 0.34}, {'connected_gene': 'GC01P227094', 'score': 0.26}, {'connected_gene': 'CDC42BPA', 'score': 0.09}]
chr1 GH01I226786 226786440 226789335 0.67 [{'connected_gene': 'COQ8A', 'score': 15.15}, {'connected_gene': 'PSEN2', 'score': 13.05}, {'connected_gene': 'ITPKB', 'score': 11.45}, {'connected_gene': 'STUM', 'score': 10.34}, {'connected_gene': 'ITPKB-AS1', 'score': 10.09}, {'connected_gene': 'GC01M226757', 'score': 0.77}, {'connected_gene': 'GC01M226756', 'score': 0.77}, {'connected_gene': 'GC01P226812', 'score': 0.34}]
chr1 GH01I226964 226964959 226968498 0.56 [{'connected_gene': 'COQ8A', 'score': 11.94}, {'connected_gene': 'PSEN2', 'score': 5.0}, {'connected_gene': 'LOC105379282', 'score': 0.77}, {'connected_gene': 'ENSG00000228525', 'score': 0.44}, {'connected_gene': 'GC01M226920', 'score': 0.37}]
chr1 GH01I226863 226863200 226864219 0.66 [{'connected_gene': 'COQ8A', 'score': 10.93}, {'connected_gene': 'ITPKB', 'score': 10.42}, {'connected_gene': 'PSEN2', 'score': 5.9}, {'connected_gene': 'LOC105373119', 'score': 0.44}, {'connected_gene': 'GC01P226812', 'score': 0.23}]
chr1 GH01I227329 227329893 227332212 0.31 [{'connected_gene': 'COQ8A', 'score': 13.5}, {'connected_gene': 'LINC01641', 'score': 12.92}, {'connected_gene': 'CDC42BPA', 'score': 7.17}]
chr1 GH01I226979 226979034 226981263 0.77 [{'connected_gene': 'COQ8A', 'score': 19.05}, {'connected_gene': 'GC01M226920', 'score': 0.77}, {'connected_gene': 'LOC105379282', 'score': 0.44}]
chr1 GH01I226716 226716074 226720182 0.99 [{'connected_gene': 'COQ8A', 'score': 4.09}, {'connected_gene': 'GC01M226732', 'score': 0.37}, {'connected_gene': 'LOC105373117', 'score': 0.37}, {'connected_gene': 'ITPKB', 'score': 0.34}]
chr1 GH01I226772 226772601 226772800 0.57 [{'connected_gene': 'COQ8A', 'score': 4.3}, {'connected_gene': 'RPS27P5', 'score': 0.44}, {'connected_gene': 'GC01M226755', 'score': 0.39}, {'connected_gene': 'GC01M226757', 'score': 0.39}, {'connected_gene': 'GC01M226756', 'score': 0.39}, {'connected_gene': 'ITPKB', 'score': 0.29}]
chr1 GH01I226986 226986595 226986882 0.58 [{'connected_gene': 'COQ8A', 'score': 10.06}, {'connected_gene': 'GC01M226920', 'score': 0.77}, {'connected_gene': 'ENSG00000233706', 'score': 0.44}]
chr1 GH01I226873 226873733 226876565 1.07 [{'connected_gene': 'PSEN2', 'score': 40.74}, {'connected_gene': 'COQ8A', 'score': 11.49}, {'connected_gene': 'CDC42BPA', 'score': 5.2}, {'connected_gene': 'LOC105373119', 'score': 0.77}]
chr1 GH01I226886 226886201 226886400 0.2 [{'connected_gene': 'PSEN2', 'score': 6.76}, {'connected_gene': 'COQ8A', 'score': 0.39}, {'connected_gene': 'LOC105373119', 'score': 0.37}]
chr1 GH01I226798 226798256 226801075 1.22 [{'connected_gene': 'PSEN2', 'score': 18.34}, {'connected_gene': 'COQ8A', 'score': 4.55}, {'connected_gene': 'GC01P226812', 'score': 0.39}, {'connected_gene': 'GC01M226757', 'score': 0.37}, {'connected_gene': 'GC01M226756', 'score': 0.37}]
chr1 GH01I226918 226918699 226922072 1 [{'connected_gene': 'PSEN2', 'score': 12.39}, {'connected_gene': 'COQ8A', 'score': 12.07}, {'connected_gene': 'GC01P226914', 'score': 0.44}, {'connected_gene': 'ENSG00000228525', 'score': 0.28}, {'connected_gene': 'GC01M226920', 'score': 0.21}]
chr1 GH01I226813 226813443 226817414 1.53 [{'connected_gene': 'PSEN2', 'score': 39.46}, {'connected_gene': 'ITPKB', 'score': 12.08}, {'connected_gene': 'STUM', 'score': 10.6}, {'connected_gene': 'COQ8A', 'score': 10.12}, {'connected_gene': 'GC01P226812', 'score': 0.44}]
chr1 GH01I226881 226881658 226884752 0.88 [{'connected_gene': 'PSEN2', 'score': 39.79}, {'connected_gene': 'ZNF678', 'score': 16.84}, {'connected_gene': 'ITPKB', 'score': 10.47}, {'connected_gene': 'LOC105373119', 'score': 0.39}, {'connected_gene': 'COQ8A', 'score': 0.39}]
chr1 GH01I226869 226869887 226873396 1.98 [{'connected_gene': 'PSEN2', 'score': 590.95}, {'connected_gene': 'LOC105373119', 'score': 550.77}, {'connected_gene': 'COQ8A', 'score': 11.46}]
chr1 GH01I226601 226601914 226605672 0.84 [{'connected_gene': 'STUM', 'score': 47.93}, {'connected_gene': 'ITPKB', 'score': 10.7}, {'connected_gene': 'ITPKB-AS1', 'score': 10.14}, {'connected_gene': 'COQ8A', 'score': 9.45}, {'connected_gene': 'GC01P226605', 'score': 0.77}, {'connected_gene': 'GC01P226597', 'score': 0.44}]
chr1 GH01I227792 227792760 227795332 1.45 [{'connected_gene': 'ZNF678', 'score': 14.86}, {'connected_gene': 'JMJD4', 'score': 14.59}, {'connected_gene': 'WNT9A', 'score': 14.13}, {'connected_gene': 'C1orf35', 'score': 11.87}, {'connected_gene': 'SNAP47', 'score': 7.01}, {'connected_gene': 'COQ8A', 'score': 5.35}, {'connected_gene': 'CDC42BPA', 'score': 1.37}, {'connected_gene': 'LOC105373289', 'score': 0.44}, {'connected_gene': 'PRSS38', 'score': 0.34}]
chr1 GH01I227057 227057425 227059786 0.31 [{'connected_gene': 'ZNF678', 'score': 13.06}, {'connected_gene': 'CICP26', 'score': 12.0}, {'connected_gene': 'ACBD3', 'score': 11.32}, {'connected_gene': 'ACBD3-AS1', 'score': 10.74}, {'connected_gene': 'CDC42BPA', 'score': 9.57}, {'connected_gene': 'COQ8A', 'score': 4.75}, {'connected_gene': 'GC01P227049', 'score': 0.44}, {'connected_gene': 'GC01P227094', 'score': 0.28}]
chr1 GH01I226948 226948725 226952400 0.72 [{'connected_gene': 'H3F3A', 'score': 11.04}, {'connected_gene': 'SDE2', 'score': 10.82}, {'connected_gene': 'ACBD3-AS1', 'score': 10.76}, {'connected_gene': 'ACBD3', 'score': 10.31}, {'connected_gene': 'PSEN2', 'score': 6.05}, {'connected_gene': 'CDC42BPA', 'score': 5.66}, {'connected_gene': 'ENSG00000228525', 'score': 0.44}, {'connected_gene': 'GC01M226920', 'score': 0.29}, {'connected_gene': 'GC01P226914', 'score': 0.28}, {'connected_gene': 'COQ8A', 'score': 0.23}]
chr1 GH01I227773 227773473 227777610 0.51 [{'connected_gene': 'SNAP47', 'score': 11.29}, {'connected_gene': 'WNT9A', 'score': 6.24}, {'connected_gene': 'OBSCN', 'score': 4.98}, {'connected_gene': 'COQ8A', 'score': 4.39}, {'connected_gene': 'LOC105373289', 'score': 0.39}, {'connected_gene': 'SNAP47-AS1', 'score': 0.31}]
chr1 GH01I227372 227372556 227373511 0.56 [{'connected_gene': 'LINC01641', 'score': 21.22}, {'connected_gene': 'CDC42BPA', 'score': 19.05}, {'connected_gene': 'COQ8A', 'score': 9.1}]
chr1 GH01I226969 226969219 226969731 0.2 [{'connected_gene': 'LOC105379282', 'score': 0.77}, {'connected_gene': 'ENSG00000228525', 'score': 0.39}, {'connected_gene': 'GC01M226920', 'score': 0.39}, {'connected_gene': 'COQ8A', 'score': 0.19}]
chr1 GH01I226970 226969908 226970599 0.43 [{'connected_gene': 'LOC105379282', 'score': 550.77}, {'connected_gene': 'ZNF678', 'score': 12.6}, {'connected_gene': 'ACBD3', 'score': 11.7}, {'connected_gene': 'CDC42BPA', 'score': 5.74}, {'connected_gene': 'ENSG00000228525', 'score': 0.39}, {'connected_gene': 'GC01M226920', 'score': 0.39}, {'connected_gene': 'COQ8A', 'score': 0.19}]
chr1 GH01I226640 226640168 226641244 0.63 [{'connected_gene': 'ITPKB-AS1', 'score': 12.11}, {'connected_gene': 'ITPKB', 'score': 11.6}, {'connected_gene': 'COQ8A', 'score': 9.61}, {'connected_gene': 'STUM', 'score': 5.57}, {'connected_gene': 'GC01P226605', 'score': 0.29}]
chr1 GH01I227427 227427587 227431115 1.17 [{'connected_gene': 'RPS18P3', 'score': 550.77}, {'connected_gene': 'CDC42BPA', 'score': 19.34}, {'connected_gene': 'LINC01641', 'score': 9.29}, {'connected_gene': 'COQ8A', 'score': 9.21}, {'connected_gene': 'SNAP47', 'score': 4.62}, {'connected_gene': 'ENSG00000269934', 'score': 4.31}, {'connected_gene': 'NUCKS1P1', 'score': 0.44}]
chr1 GH01I227092 227092964 227095083 0.68 [{'connected_gene': 'GC01P227094', 'score': 550.77}, {'connected_gene': 'CDC42BPA', 'score': 10.86}, {'connected_gene': 'LINC01641', 'score': 10.13}, {'connected_gene': 'COQ8A', 'score': 4.3}, {'connected_gene': 'GC01P227049', 'score': 0.26}]
chr1 GH01I226983 226983102 226983728 0.38 [{'connected_gene': 'GC01M226920', 'score': 550.77}, {'connected_gene': 'COQ8A', 'score': 10.61}, {'connected_gene': 'CDC42BPA', 'score': 6.4}, {'connected_gene': 'ENSG00000233706', 'score': 0.44}]
chr1 GH01I226956 226956714 226963786 0.73 [{'connected_gene': 'ENSG00000228525', 'score': 550.77}, {'connected_gene': 'COQ8A', 'score': 12.13}, {'connected_gene': 'ACBD3', 'score': 12.04}, {'connected_gene': 'CDC42BPA', 'score': 5.49}, {'connected_gene': 'LOC105379282', 'score': 0.39}, {'connected_gene': 'GC01M226920', 'score': 0.34}]
chr1 GH01I226912 226912740 226912889 0.81 [{'connected_gene': 'GC01P226914', 'score': 550.77}, {'connected_gene': 'COQ8A', 'score': 0.37}]
chr1 GH01I226810 226810036 226810884 0.67 [{'connected_gene': 'GC01P226812', 'score': 550.77}, {'connected_gene': 'ITPKB', 'score': 14.19}, {'connected_gene': 'COQ8A', 'score': 10.07}, {'connected_gene': 'PSEN2', 'score': 6.57}, {'connected_gene': 'STUM', 'score': 3.6}]

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