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
ENST00000360415 [[65579590, 65579957], [65592690, 65592727], [65595113, 65595235], [65595730, 65595829], [65599266, 65599361], [65610429, 65610487], [65617194, 65619555]] [[65579949, 65579957], [65592690, 65592727], [65595113, 65595197]]
ENST00000395326 [[65579591, 65579957], [65592690, 65592727], [65595730, 65595829], [65599266, 65599361], [65610429, 65610487], [65617194, 65619548]] [[65579949, 65579957], [65592690, 65592727], [65595730, 65595829], [65599266, 65599361], [65610429, 65610487], [65617194, 65617344]]
ENST00000431089 [[65579812, 65579901], [65592690, 65592727], [65599266, 65599361], [65610429, 65610487], [65617194, 65617857]] [[65579815, 65579901], [65592690, 65592727], [65599266, 65599361], [65610429, 65610487], [65617194, 65617344]]
ENST00000398684 [[65579827, 65579957], [65610429, 65610487], [65617194, 65617498]] [[65579949, 65579957], [65610429, 65610487], [65617194, 65617344]]
ENST00000338592 [[65579836, 65579957], [65592690, 65592727], [65599266, 65599361], [65610429, 65610487], [65617194, 65618276]] [[65579949, 65579957], [65592690, 65592727], [65599266, 65599361], [65610429, 65610487], [65617194, 65617344]]
ENST00000486848 [[65579845, 65579957], [65592690, 65592727], [65595730, 65595829], [65599266, 65599476]] None
ENST00000415001 [[65591622, 65591630], [65592690, 65592727], [65599266, 65599361], [65610429, 65610487], [65617194, 65619551]] [[65591622, 65591630], [65592690, 65592727], [65599266, 65599361], [65610429, 65610487], [65617194, 65617344]]
ENST00000492264 [[65615649, 65615935], [65617194, 65617639]] None
NM_001142414 [[65579804, 65579901], [65592690, 65592727], [65599266, 65599361], [65610429, 65610487], [65617194, 65619555]] [[65579815, 65579901], [65592690, 65592727], [65599266, 65599361], [65610429, 65610487], [65617194, 65617344]]
NM_001040648 [[65579804, 65579957], [65610429, 65610487], [65617194, 65619555]] [[65579949, 65579957], [65610429, 65610487], [65617194, 65617344]]
NM_001040647 [[65579804, 65579957], [65592690, 65592727], [65599266, 65599361], [65610429, 65610487], [65617194, 65619555]] [[65579949, 65579957], [65592690, 65592727], [65599266, 65599361], [65610429, 65610487], [65617194, 65617344]]
NM_014478 [[65579804, 65579957], [65592690, 65592727], [65595730, 65595829], [65599266, 65599361], [65610429, 65610487], [65617194, 65619555]] [[65579949, 65579957], [65592690, 65592727], [65595730, 65595829], [65599266, 65599361], [65610429, 65610487], [65617194, 65617344]]
NR_024548 [[65579804, 65579957], [65592690, 65592727], [65595113, 65595235], [65595730, 65595829], [65599266, 65599361], [65610429, 65610487], [65617194, 65619555]] None
Promoter
Chrom Start End Description
chr7 65579799 65579854 CAGE_peak_1_at_CRCP_5end
chr7 65579856 65579878 CAGE_peak_2_at_CRCP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I065749 65749699 65752519 1.52 [{'connected_gene': 'CCT6P1', 'score': 557.44}, {'connected_gene': 'VKORC1L1', 'score': 35.12}, {'connected_gene': 'ENSG00000244657', 'score': 30.41}, {'connected_gene': 'LOC100996437', 'score': 26.61}, {'connected_gene': 'ENSG00000230189', 'score': 23.25}, {'connected_gene': 'LINC00174', 'score': 22.59}, {'connected_gene': 'ENSG00000229180', 'score': 22.14}, {'connected_gene': 'LOC84214', 'score': 19.46}, {'connected_gene': 'LOC100420547', 'score': 19.26}, {'connected_gene': 'GTF2IP9', 'score': 19.19}, {'connected_gene': 'RABGEF1', 'score': 13.8}, {'connected_gene': 'GTF2IP14', 'score': 11.78}, {'connected_gene': 'ZNF138', 'score': 10.05}, {'connected_gene': 'CRCP', 'score': 4.46}, {'connected_gene': 'GUSB', 'score': 3.86}, {'connected_gene': 'GC07P065756', 'score': 0.77}, {'connected_gene': 'GC07P065757', 'score': 0.77}, {'connected_gene': 'LOC441242', 'score': 0.37}]
chr7 GH07I065443 65443397 65446899 0.88 [{'connected_gene': 'CCT6P3', 'score': 19.58}, {'connected_gene': 'ZNF117', 'score': 11.22}, {'connected_gene': 'ZNF273', 'score': 6.84}, {'connected_gene': 'ERV3-1', 'score': 6.29}, {'connected_gene': 'CRCP', 'score': 4.66}, {'connected_gene': 'ENSG00000238124', 'score': 0.37}, {'connected_gene': 'ZNF92', 'score': 0.19}]
chr7 GH07I066697 66697179 66697981 0.4 [{'connected_gene': 'CRCP', 'score': 16.83}, {'connected_gene': 'RABGEF1', 'score': 15.96}, {'connected_gene': 'GC07M066672', 'score': 0.39}, {'connected_gene': 'GC07P066740', 'score': 0.26}]
chr7 GH07I066113 66113867 66116343 2.07 [{'connected_gene': 'CRCP', 'score': 550.77}, {'connected_gene': 'LOC100996437', 'score': 38.39}, {'connected_gene': 'VKORC1L1', 'score': 28.03}, {'connected_gene': 'GS1-124K5.4', 'score': 20.42}, {'connected_gene': 'LOC100420547', 'score': 17.35}, {'connected_gene': 'ENSG00000229180', 'score': 16.69}, {'connected_gene': 'TMEM248', 'score': 12.64}, {'connected_gene': 'CCT6P1', 'score': 12.07}, {'connected_gene': 'ENSG00000244657', 'score': 12.03}, {'connected_gene': 'GUSB', 'score': 12.02}, {'connected_gene': 'TPST1', 'score': 11.88}, {'connected_gene': 'ENSG00000230189', 'score': 11.59}, {'connected_gene': 'LOC84214', 'score': 9.77}, {'connected_gene': 'GTF2IP9', 'score': 9.69}, {'connected_gene': 'RABGEF1', 'score': 8.23}, {'connected_gene': 'PIR35862', 'score': 0.39}, {'connected_gene': 'GC07P066127', 'score': 0.39}, {'connected_gene': 'GC07P066131', 'score': 0.39}, {'connected_gene': 'GC07P066129', 'score': 0.39}, {'connected_gene': 'GC07P066128', 'score': 0.39}, {'connected_gene': 'ENSG00000249319', 'score': 0.31}]
chr7 GH07I066049 66049987 66052172 1.06 [{'connected_gene': 'VKORC1L1', 'score': 31.58}, {'connected_gene': 'CRCP', 'score': 15.37}, {'connected_gene': 'LOC100996437', 'score': 14.76}, {'connected_gene': 'RABGEF1', 'score': 13.49}, {'connected_gene': 'TPST1', 'score': 10.94}, {'connected_gene': 'CCT6P1', 'score': 6.57}, {'connected_gene': 'LOC105375336', 'score': 0.39}, {'connected_gene': 'GC07P066070', 'score': 0.37}]
chr7 GH07I066104 66104826 66107799 0.79 [{'connected_gene': 'VKORC1L1', 'score': 26.9}, {'connected_gene': 'GS1-124K5.4', 'score': 22.39}, {'connected_gene': 'RABGEF1', 'score': 15.62}, {'connected_gene': 'CCT6P1', 'score': 4.12}, {'connected_gene': 'CRCP', 'score': 0.44}, {'connected_gene': 'ENSG00000249319', 'score': 0.37}]
chr7 GH07I065251 65251556 65253020 1.14 [{'connected_gene': 'GTF2IP14', 'score': 37.51}, {'connected_gene': 'CCT6P3', 'score': 27.63}, {'connected_gene': 'ZNF117', 'score': 13.88}, {'connected_gene': 'CRCP', 'score': 4.92}, {'connected_gene': 'ENSG00000229064', 'score': 0.77}, {'connected_gene': 'CLUHP7', 'score': 0.39}]
chr7 GH07I066653 66653033 66656876 2.06 [{'connected_gene': 'LOC100996437', 'score': 589.6}, {'connected_gene': 'RABGEF1', 'score': 28.7}, {'connected_gene': 'VKORC1L1', 'score': 28.34}, {'connected_gene': 'GS1-124K5.4', 'score': 20.95}, {'connected_gene': 'CRCP', 'score': 17.46}, {'connected_gene': 'KCTD7', 'score': 15.52}, {'connected_gene': 'ENSG00000229180', 'score': 5.94}, {'connected_gene': 'TYW1', 'score': 5.19}, {'connected_gene': 'GC07M066657', 'score': 0.44}]
chr7 GH07I066757 66757802 66760199 1.18 [{'connected_gene': 'LOC100996437', 'score': 59.88}, {'connected_gene': 'RABGEF1', 'score': 34.15}, {'connected_gene': 'GS1-124K5.4', 'score': 20.16}, {'connected_gene': 'CRCP', 'score': 16.92}, {'connected_gene': 'KCTD7', 'score': 7.69}, {'connected_gene': 'ENSG00000271064', 'score': 0.44}, {'connected_gene': 'GC07P066740', 'score': 0.37}, {'connected_gene': 'GC07M066788', 'score': 0.31}]
chr7 GH07I066275 66275852 66278636 0.38 [{'connected_gene': 'LOC100996437', 'score': 39.79}, {'connected_gene': 'CRCP', 'score': 18.23}, {'connected_gene': 'RABGEF1', 'score': 15.64}, {'connected_gene': 'TPST1', 'score': 11.17}, {'connected_gene': 'GC07P066239', 'score': 0.28}, {'connected_gene': 'RNU6-313P', 'score': 0.2}, {'connected_gene': 'GC07P066346', 'score': 0.2}]
chr7 GH07I066139 66139546 66143781 0.91 [{'connected_gene': 'LOC100996437', 'score': 32.74}, {'connected_gene': 'VKORC1L1', 'score': 29.44}, {'connected_gene': 'TPST1', 'score': 20.04}, {'connected_gene': 'RABGEF1', 'score': 15.62}, {'connected_gene': 'KCTD7', 'score': 10.65}, {'connected_gene': 'PIR31229', 'score': 0.77}, {'connected_gene': 'GC07P066141', 'score': 0.77}, {'connected_gene': 'ENSG00000234185', 'score': 0.34}, {'connected_gene': 'CRCP', 'score': 0.31}, {'connected_gene': 'ENSG00000249319', 'score': 0.23}]
chr7 GH07I066110 66110350 66111967 0.8 [{'connected_gene': 'LOC100996437', 'score': 32.54}, {'connected_gene': 'VKORC1L1', 'score': 29.02}, {'connected_gene': 'RABGEF1', 'score': 15.62}, {'connected_gene': 'TPST1', 'score': 11.88}, {'connected_gene': 'CRCP', 'score': 0.77}, {'connected_gene': 'ENSG00000249319', 'score': 0.34}]
chr7 GH07I066254 66254601 66256576 0.96 [{'connected_gene': 'LOC100996437', 'score': 33.99}, {'connected_gene': 'VKORC1L1', 'score': 24.79}, {'connected_gene': 'CRCP', 'score': 18.43}, {'connected_gene': 'GC07P066239', 'score': 0.37}, {'connected_gene': 'TPST1', 'score': 0.23}, {'connected_gene': 'RNU6-313P', 'score': 0.17}, {'connected_gene': 'GC07P066346', 'score': 0.17}]
chr7 GH07I066144 66144475 66153612 1.3 [{'connected_gene': 'LOC100996437', 'score': 48.99}, {'connected_gene': 'VKORC1L1', 'score': 28.26}, {'connected_gene': 'GS1-124K5.4', 'score': 21.75}, {'connected_gene': 'RABGEF1', 'score': 15.62}, {'connected_gene': 'ENSG00000229180', 'score': 12.5}, {'connected_gene': 'TPST1', 'score': 11.44}, {'connected_gene': 'ASL', 'score': 3.05}, {'connected_gene': 'PIR31229', 'score': 0.39}, {'connected_gene': 'GC07P066141', 'score': 0.39}, {'connected_gene': 'ENSG00000234185', 'score': 0.37}, {'connected_gene': 'CRCP', 'score': 0.29}, {'connected_gene': 'ENSG00000249319', 'score': 0.21}]
chr7 GH07I066098 66098593 66101200 1.2 [{'connected_gene': 'LOC100996437', 'score': 30.46}, {'connected_gene': 'LOC100420547', 'score': 29.79}, {'connected_gene': 'VKORC1L1', 'score': 27.6}, {'connected_gene': 'ENSG00000229180', 'score': 27.5}, {'connected_gene': 'TMEM248', 'score': 24.83}, {'connected_gene': 'CCT6P1', 'score': 22.41}, {'connected_gene': 'GUSB', 'score': 21.99}, {'connected_gene': 'GS1-124K5.4', 'score': 20.93}, {'connected_gene': 'TYW1', 'score': 15.93}, {'connected_gene': 'RABGEF1', 'score': 15.62}, {'connected_gene': 'ENSG00000244657', 'score': 12.03}, {'connected_gene': 'ENSG00000230189', 'score': 11.58}, {'connected_gene': 'RPL35P5', 'score': 10.27}, {'connected_gene': 'LOC84214', 'score': 9.77}, {'connected_gene': 'GTF2IP9', 'score': 9.69}, {'connected_gene': 'TPST1', 'score': 4.47}, {'connected_gene': 'ENSG00000249319', 'score': 0.39}, {'connected_gene': 'CRCP', 'score': 0.39}]
chr7 GH07I066281 66281254 66284553 1.48 [{'connected_gene': 'LOC100996437', 'score': 39.79}, {'connected_gene': 'GS1-124K5.4', 'score': 21.74}, {'connected_gene': 'CRCP', 'score': 17.84}, {'connected_gene': 'TPST1', 'score': 11.49}, {'connected_gene': 'RABGEF1', 'score': 10.22}, {'connected_gene': 'KCTD7', 'score': 6.09}, {'connected_gene': 'GC07P066239', 'score': 0.26}, {'connected_gene': 'RNU6-313P', 'score': 0.21}, {'connected_gene': 'GC07P066346', 'score': 0.21}]
chr7 GH07I066535 66535114 66537396 0.91 [{'connected_gene': 'LOC100996437', 'score': 56.91}, {'connected_gene': 'GS1-124K5.4', 'score': 21.53}, {'connected_gene': 'CRCP', 'score': 18.67}, {'connected_gene': 'RABGEF1', 'score': 15.7}, {'connected_gene': 'PIR35492', 'score': 0.39}, {'connected_gene': 'GC07M066550', 'score': 0.39}, {'connected_gene': 'LOC100420547', 'score': 0.34}, {'connected_gene': 'GS1-124K5.11', 'score': 0.22}, {'connected_gene': 'ENSG00000229180', 'score': 0.22}]
chr7 GH07I066665 66665443 66667816 0.49 [{'connected_gene': 'LOC100996437', 'score': 69.9}, {'connected_gene': 'GS1-124K5.4', 'score': 21.05}, {'connected_gene': 'CRCP', 'score': 17.84}, {'connected_gene': 'RABGEF1', 'score': 15.96}, {'connected_gene': 'GC07M066657', 'score': 0.77}]
chr7 GH07I065260 65260381 65261084 0.84 [{'connected_gene': 'CLUHP7', 'score': 550.77}, {'connected_gene': 'GTF2IP14', 'score': 40.34}, {'connected_gene': 'ERV3-1', 'score': 22.92}, {'connected_gene': 'ZNF117', 'score': 14.24}, {'connected_gene': 'CRCP', 'score': 4.92}, {'connected_gene': 'ENSG00000229064', 'score': 0.39}]
chr7 GH07I066589 66589801 66593657 1.26 [{'connected_gene': 'ENSG00000229180', 'score': 554.46}, {'connected_gene': 'GS1-124K5.11', 'score': 550.77}, {'connected_gene': 'LOC100996437', 'score': 57.1}, {'connected_gene': 'VKORC1L1', 'score': 28.98}, {'connected_gene': 'CRCP', 'score': 19.83}, {'connected_gene': 'RABGEF1', 'score': 15.75}, {'connected_gene': 'KCTD7', 'score': 12.68}, {'connected_gene': 'RPL35P5', 'score': 10.61}, {'connected_gene': 'CCT6P1', 'score': 5.36}, {'connected_gene': 'ENSG00000177418', 'score': 0.29}]
chr7 GH07I066490 66490800 66491400 0.4 [{'connected_gene': 'ENSG00000244510', 'score': 550.77}, {'connected_gene': 'CRCP', 'score': 18.19}, {'connected_gene': 'RABGEF1', 'score': 15.38}, {'connected_gene': 'LOC100996437', 'score': 6.24}, {'connected_gene': 'LINC00174', 'score': 0.77}, {'connected_gene': 'GC07M066492', 'score': 0.77}]
chr7 GH07I066378 66378657 66381023 0.76 [{'connected_gene': 'PIR46066', 'score': 550.77}, {'connected_gene': 'LOC100996437', 'score': 40.36}, {'connected_gene': 'CRCP', 'score': 17.1}, {'connected_gene': 'TPST1', 'score': 10.72}, {'connected_gene': 'PIR57699', 'score': 0.44}, {'connected_gene': 'LINC00174', 'score': 0.14}]
chr7 GH07I066124 66124601 66127241 1.04 [{'connected_gene': 'PIR35862', 'score': 550.77}, {'connected_gene': 'GC07P066127', 'score': 550.77}, {'connected_gene': 'GC07P066129', 'score': 550.77}, {'connected_gene': 'GC07P066131', 'score': 550.77}, {'connected_gene': 'GC07P066128', 'score': 550.77}, {'connected_gene': 'LOC100996437', 'score': 38.24}, {'connected_gene': 'VKORC1L1', 'score': 28.26}, {'connected_gene': 'GS1-124K5.4', 'score': 18.35}, {'connected_gene': 'RABGEF1', 'score': 15.62}, {'connected_gene': 'TPST1', 'score': 11.32}, {'connected_gene': 'CRCP', 'score': 0.39}, {'connected_gene': 'ENSG00000234185', 'score': 0.28}, {'connected_gene': 'ENSG00000249319', 'score': 0.28}]

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