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
ENST00000341567 [[66386211, 66386448], [66406834, 66407011], [66409962, 66410248], [66413530, 66413681], [66415938, 66416122], [66418212, 66418356], [66420488, 66423538]] [[66406852, 66407011], [66409962, 66410248], [66413530, 66413681], [66415938, 66416122], [66418212, 66418356], [66420488, 66420509]]
ENST00000607045 [[66386218, 66386448], [66387135, 66387233], [66406834, 66407011], [66409962, 66410147]] [[66406852, 66407011], [66409962, 66410147]]
ENST00000433271 [[66386248, 66386448], [66406834, 66407011], [66409962, 66410248], [66413530, 66413681], [66418212, 66418356], [66420488, 66421140]] [[66406852, 66407011], [66409962, 66410248], [66413530, 66413681], [66418212, 66418228]]
ENST00000413593 [[66386830, 66387233], [66406834, 66407011], [66409962, 66410019]] [[66406852, 66407011], [66409962, 66410019]]
ENST00000424964 [[66395601, 66395701], [66406834, 66407011], [66409962, 66410221]] [[66406852, 66407011], [66409962, 66410221]]
ENST00000418375 [[66395610, 66395855], [66406834, 66407011], [66409962, 66410085]] [[66406852, 66407011], [66409962, 66410085]]
ENST00000484751 [[66410044, 66410248], [66413530, 66413681], [66415938, 66416322]] None
NM_017994 [[66386202, 66386448], [66406834, 66407011], [66409962, 66410248], [66413530, 66413681], [66415938, 66416122], [66418212, 66418356], [66420488, 66423538]] [[66406852, 66407011], [66409962, 66410248], [66413530, 66413681], [66415938, 66416122], [66418212, 66418356], [66420488, 66420509]]
Promoter
Chrom Start End Description
chr7 66386204 66386249 CAGE_peak_1_at_C7orf42_5end
chr7 66386264 66386279 CAGE_peak_2_at_C7orf42_5end
chr7 66386294 66386305 CAGE_peak_3_at_C7orf42_5end
chr7 66386370 66386381 CAGE_peak_12_at_C7orf42_5end
chr7 66395596 66395607 CAGE_peak_20_at_C7orf42_5end
chr7 66406933 66406951 CAGE_peak_4_at_C7orf42_5end
chr7 66406981 66406991 CAGE_peak_5_at_C7orf42_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I066949 66949993 66953575 0.67 [{'connected_gene': 'LOC644794', 'score': 46.81}, {'connected_gene': 'RABGEF1', 'score': 14.89}, {'connected_gene': 'ENSG00000229180', 'score': 8.06}, {'connected_gene': 'RN7SL43P', 'score': 0.31}, {'connected_gene': 'TMEM248', 'score': 0.29}]
chr7 GH07I066972 66972034 66973637 0.49 [{'connected_gene': 'LOC644794', 'score': 25.45}, {'connected_gene': 'RN7SL43P', 'score': 0.44}, {'connected_gene': 'TMEM248', 'score': 0.23}]
chr7 GH07I066958 66958573 66959879 0.49 [{'connected_gene': 'LOC644794', 'score': 22.25}, {'connected_gene': 'RN7SL43P', 'score': 0.34}, {'connected_gene': 'TMEM248', 'score': 0.28}]
chr7 GH07I066993 66993555 66998001 2.28 [{'connected_gene': 'TYW1', 'score': 557.07}, {'connected_gene': 'SBDS', 'score': 550.77}, {'connected_gene': 'ENSG00000229180', 'score': 42.95}, {'connected_gene': 'LOC100420547', 'score': 32.31}, {'connected_gene': 'ENSG00000244657', 'score': 28.96}, {'connected_gene': 'SPDYE21P', 'score': 23.78}, {'connected_gene': 'TMEM248', 'score': 23.17}, {'connected_gene': 'RABGEF1', 'score': 14.66}, {'connected_gene': 'ENSG00000230189', 'score': 11.56}, {'connected_gene': 'STAG3L4', 'score': 11.24}, {'connected_gene': 'PMS2P4', 'score': 9.84}, {'connected_gene': 'GTF2IP9', 'score': 9.66}, {'connected_gene': 'LOC644794', 'score': 7.01}, {'connected_gene': 'LOC100996437', 'score': 6.27}, {'connected_gene': 'LINC00174', 'score': 4.32}, {'connected_gene': 'ENSG00000233383', 'score': 0.16}]
chr7 GH07I067019 67019465 67020228 0.79 [{'connected_gene': 'TYW1', 'score': 28.63}, {'connected_gene': 'LOC100420547', 'score': 20.14}, {'connected_gene': 'ENSG00000229180', 'score': 16.86}, {'connected_gene': 'ENSG00000273448', 'score': 12.56}, {'connected_gene': 'TMEM248', 'score': 12.32}, {'connected_gene': 'SBDS', 'score': 0.34}, {'connected_gene': 'ENSG00000233383', 'score': 0.2}]
chr7 GH07I066920 66920108 66923023 2.12 [{'connected_gene': 'TMEM248', 'score': 550.77}, {'connected_gene': 'LOC644794', 'score': 22.65}, {'connected_gene': 'RABGEF1', 'score': 15.66}, {'connected_gene': 'GC07P066873', 'score': 0.25}, {'connected_gene': 'RN7SL43P', 'score': 0.22}]
chr7 GH07I065980 65980233 65983160 2.1 [{'connected_gene': 'GUSB', 'score': 563.88}, {'connected_gene': 'ENSG00000229180', 'score': 14.49}, {'connected_gene': 'RABGEF1', 'score': 13.82}, {'connected_gene': 'LOC100420547', 'score': 10.79}, {'connected_gene': 'TMEM248', 'score': 10.04}, {'connected_gene': 'VKORC1L1', 'score': 8.48}, {'connected_gene': 'GC07P065962', 'score': 0.34}, {'connected_gene': 'PIR55112', 'score': 0.34}]
chr7 GH07I066974 66974969 66975595 0.64 [{'connected_gene': 'LINC00174', 'score': 7.14}, {'connected_gene': 'GUSB', 'score': 4.41}, {'connected_gene': 'LOC100996437', 'score': 4.17}, {'connected_gene': 'LOC644794', 'score': 3.97}, {'connected_gene': 'RN7SL43P', 'score': 0.77}, {'connected_gene': 'TMEM248', 'score': 0.23}]
chr7 GH07I066739 66739267 66743437 2.33 [{'connected_gene': 'RABGEF1', 'score': 582.03}, {'connected_gene': 'GC07P066740', 'score': 550.77}, {'connected_gene': 'ENSG00000272831', 'score': 550.77}, {'connected_gene': 'LOC100996437', 'score': 60.22}, {'connected_gene': 'KCTD7', 'score': 4.82}, {'connected_gene': 'TMEM248', 'score': 1.31}, {'connected_gene': 'ENSG00000271064', 'score': 0.44}]
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 GH07I065927 65927000 65928474 0.88 [{'connected_gene': 'VKORC1L1', 'score': 35.15}, {'connected_gene': 'TMEM248', 'score': 13.56}, {'connected_gene': 'LOC100420547', 'score': 11.93}, {'connected_gene': 'ENSG00000229180', 'score': 11.27}, {'connected_gene': 'GUSB', 'score': 11.09}, {'connected_gene': 'ERV3-1', 'score': 10.37}, {'connected_gene': 'GC07M065776', 'score': 0.31}, {'connected_gene': 'GC07P065961', 'score': 0.31}, {'connected_gene': 'PIR33872', 'score': 0.31}, {'connected_gene': 'LOC105375335', 'score': 0.21}]
chr7 GH07I066978 66978828 66980104 0.31 [{'connected_gene': 'RN7SL43P', 'score': 550.77}, {'connected_gene': 'LOC644794', 'score': 5.52}, {'connected_gene': 'LOC100996437', 'score': 4.99}, {'connected_gene': 'TMEM248', 'score': 0.22}]
chr7 GH07I066946 66946027 66948214 0.38 [{'connected_gene': 'LOC100996437', 'score': 29.22}, {'connected_gene': 'LOC644794', 'score': 17.18}, {'connected_gene': 'TMEM248', 'score': 13.08}, {'connected_gene': 'ENSG00000229180', 'score': 6.14}, {'connected_gene': 'RN7SL43P', 'score': 0.29}]
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 GH07I067359 67359850 67360990 0.8 [{'connected_gene': 'LOC100420547', 'score': 20.14}, {'connected_gene': 'ENSG00000229180', 'score': 16.84}, {'connected_gene': 'STAG3L4', 'score': 16.56}, {'connected_gene': 'TYW1', 'score': 13.04}, {'connected_gene': 'ENSG00000273448', 'score': 12.81}, {'connected_gene': 'TMEM248', 'score': 12.22}, {'connected_gene': 'GC07P067349', 'score': 0.39}, {'connected_gene': 'GC07P067381', 'score': 0.34}]
chr7 GH07I066930 66930394 66930563 0.92 [{'connected_gene': 'LOC100420547', 'score': 17.46}, {'connected_gene': 'ENSG00000229180', 'score': 17.09}, {'connected_gene': 'GUSB', 'score': 14.27}, {'connected_gene': 'TMEM248', 'score': 13.97}, {'connected_gene': 'TYW1', 'score': 12.99}, {'connected_gene': 'ENSG00000244657', 'score': 9.76}, {'connected_gene': 'RN7SL43P', 'score': 0.25}]
chr7 GH07I066847 66847657 66849179 0.81 [{'connected_gene': 'ENSG00000232546', 'score': 550.77}, {'connected_gene': 'GTF2IP23', 'score': 550.77}, {'connected_gene': 'GC07P066851', 'score': 550.77}, {'connected_gene': 'GC07P066850', 'score': 550.77}, {'connected_gene': 'PIR38356', 'score': 550.77}, {'connected_gene': 'LOC644794', 'score': 41.02}, {'connected_gene': 'LOC100420547', 'score': 20.16}, {'connected_gene': 'ENSG00000229180', 'score': 16.89}, {'connected_gene': 'RABGEF1', 'score': 15.69}, {'connected_gene': 'TYW1', 'score': 13.1}, {'connected_gene': 'ENSG00000273448', 'score': 12.54}, {'connected_gene': 'TMEM248', 'score': 12.36}, {'connected_gene': 'LINC00174', 'score': 12.06}, {'connected_gene': 'TPST1', 'score': 6.04}, {'connected_gene': 'STAG3L4', 'score': 4.09}]
chr7 GH07I066499 66499840 66500732 0.96 [{'connected_gene': 'GC07P066502', 'score': 550.77}, {'connected_gene': 'LOC100996437', 'score': 40.39}, {'connected_gene': 'VKORC1L1', 'score': 29.15}, {'connected_gene': 'LOC100420547', 'score': 20.5}, {'connected_gene': 'ENSG00000229180', 'score': 16.98}, {'connected_gene': 'CCT6P1', 'score': 16.97}, {'connected_gene': 'TYW1', 'score': 13.03}, {'connected_gene': 'ENSG00000273448', 'score': 12.53}, {'connected_gene': 'TMEM248', 'score': 12.22}, {'connected_gene': 'GC07P066497', 'score': 0.77}]