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
ENST00000357389 [[114523523, 114523991], [114524930, 114525159], [114526347, 114526523], [114529968, 114530137], [114531519, 114531684], [114535271, 114535461], [114535606, 114535854], [114537523, 114537645], [114538485, 114538608], [114541041, 114541164], [114542700, 114542823], [114549499, 114549562], [114550998, 114551023], [114566547, 114566714], [114566805, 114567046]] [[114523836, 114523991], [114524930, 114525159], [114526347, 114526523], [114529968, 114530137], [114531519, 114531684], [114535271, 114535461], [114535606, 114535854], [114537523, 114537645], [114538485, 114538608], [114541041, 114541164], [114542700, 114542823], [114549499, 114549562], [114550998, 114551023], [114566547, 114566714], [114566805, 114566893]]
ENST00000327773 [[114523530, 114523991], [114524930, 114525159], [114526347, 114526523], [114529968, 114530137], [114531519, 114531684], [114535271, 114535461], [114535606, 114535725], [114537523, 114537645], [114538485, 114538608], [114541041, 114541164], [114542700, 114542823], [114549499, 114549562], [114550998, 114551023], [114566547, 114566714], [114566805, 114567040]] [[114523836, 114523991], [114524930, 114525159], [114526347, 114526523], [114529968, 114530137], [114531519, 114531684], [114535271, 114535461], [114535606, 114535725], [114537523, 114537645], [114538485, 114538608], [114541041, 114541164], [114542700, 114542823], [114549499, 114549562], [114550998, 114551023], [114566547, 114566714], [114566805, 114566893]]
ENST00000476291 [[114550649, 114550811], [114550998, 114551023], [114566547, 114566714], [114566805, 114566988]] None
ENST00000608763 [[114523521, 114526167]] None
ENST00000480426 [[114523523, 114523991], [114524930, 114525159], [114526347, 114526523], [114529968, 114530137], [114531519, 114531684], [114535271, 114535461], [114535606, 114536714]] None
ENST00000418959 [[114523523, 114523991], [114524930, 114525159], [114526347, 114526523], [114529968, 114530137], [114531519, 114531684], [114535271, 114535461], [114535606, 114536714]] [[114523836, 114523991], [114524930, 114525159], [114526347, 114526523], [114529968, 114530137], [114531519, 114531684], [114535271, 114535461], [114535606, 114535662]]
ENST00000450766 [[114523523, 114523991], [114524930, 114525159], [114526347, 114526523], [114529968, 114530137], [114531519, 114531684], [114535271, 114535461], [114535606, 114535725], [114537523, 114537645], [114538485, 114539017]] [[114523836, 114523991], [114524930, 114525159], [114526347, 114526523], [114529968, 114530137], [114531519, 114531684], [114535271, 114535461], [114535606, 114535725], [114537523, 114537538]]
ENST00000355761 [[114523523, 114523991], [114524930, 114525159], [114526347, 114526523], [114529968, 114530137], [114531519, 114531684], [114535271, 114535461], [114535606, 114535725], [114537523, 114537645], [114538485, 114538608], [114541041, 114541164], [114542700, 114542823], [114549499, 114549562], [114549938, 114550056]] [[114523836, 114523991], [114524930, 114525159], [114526347, 114526523], [114529968, 114530137], [114531519, 114531684], [114535271, 114535461], [114535606, 114535725], [114537523, 114537645], [114538485, 114538608], [114541041, 114541164], [114542700, 114542823], [114549499, 114549562], [114549938, 114550056]]
ENST00000610073 [[114523524, 114523991], [114524930, 114525159], [114526347, 114526523], [114529968, 114530137], [114531519, 114531684], [114535271, 114535461], [114535606, 114535725], [114537523, 114537645], [114538485, 114539017]] None
NM_000820 [[114523521, 114523991], [114524930, 114525159], [114526347, 114526523], [114529968, 114530137], [114531519, 114531684], [114535271, 114535461], [114535606, 114535725], [114537523, 114537645], [114538485, 114538608], [114541041, 114541164], [114542700, 114542823], [114549499, 114549562], [114550998, 114551023], [114566547, 114566714], [114566805, 114567076]] [[114523836, 114523991], [114524930, 114525159], [114526347, 114526523], [114529968, 114530137], [114531519, 114531684], [114535271, 114535461], [114535606, 114535725], [114537523, 114537645], [114538485, 114538608], [114541041, 114541164], [114542700, 114542823], [114549499, 114549562], [114550998, 114551023], [114566547, 114566714], [114566805, 114566893]]
Promoter
Chrom Start End Description
chr13 114554147 114554180 CAGE_peak_4_at_GAS6_5end
chr13 114554275 114554287 CAGE_peak_5_at_GAS6_5end
chr13 114554659 114554704 CAGE_peak_3_at_GAS6_5end
chr13 114566984 114567018 CAGE_peak_1_at_GAS6_5end
chr13 114567034 114567074 CAGE_peak_2_at_GAS6_5end
chr13 114567443 114567462 CAGE_peak_11_at_GAS6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I113852 113852573 113858341 1.31 [{'connected_gene': 'CDC16', 'score': 22.11}, {'connected_gene': 'PCID2', 'score': 13.05}, {'connected_gene': 'GAS6', 'score': 7.27}, {'connected_gene': 'GAS6-AS1', 'score': 6.3}, {'connected_gene': 'LOC105370380', 'score': 0.28}]
chr13 GH13I113905 113905921 113909446 0.86 [{'connected_gene': 'CDC16', 'score': 15.27}, {'connected_gene': 'ENSG00000237699', 'score': 12.44}, {'connected_gene': 'GAS6', 'score': 12.41}, {'connected_gene': 'RASA3', 'score': 9.94}, {'connected_gene': 'DCUN1D2', 'score': 9.3}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.14}, {'connected_gene': 'LINC00565', 'score': 4.55}, {'connected_gene': 'PIR38561', 'score': 0.37}, {'connected_gene': 'LINC00452', 'score': 0.34}]
chr13 GH13I113583 113583800 113586295 1.95 [{'connected_gene': 'TFDP1', 'score': 550.77}, {'connected_gene': 'CDC16', 'score': 19.17}, {'connected_gene': 'TUBGCP3', 'score': 18.63}, {'connected_gene': 'GRK1', 'score': 13.92}, {'connected_gene': 'PCID2', 'score': 12.39}, {'connected_gene': 'GAS6', 'score': 12.15}, {'connected_gene': 'GAS6-AS1', 'score': 10.32}, {'connected_gene': 'TMCO3', 'score': 9.86}, {'connected_gene': 'PIR60549', 'score': 0.44}]
chr13 GH13I113842 113842995 113844628 0.31 [{'connected_gene': 'GAS6-AS1', 'score': 7.35}, {'connected_gene': 'GAS6', 'score': 7.11}, {'connected_gene': 'TMEM255B', 'score': 4.45}, {'connected_gene': 'LOC105370380', 'score': 0.31}]
chr13 GH13I113848 113848366 113850551 0.82 [{'connected_gene': 'GAS6-AS1', 'score': 8.67}, {'connected_gene': 'GAS6', 'score': 4.77}, {'connected_gene': 'TMEM255B', 'score': 4.73}, {'connected_gene': 'LOC105370380', 'score': 0.29}]
chr13 GH13I113845 113845078 113845447 0.83 [{'connected_gene': 'GAS6-AS1', 'score': 8.24}, {'connected_gene': 'GAS6', 'score': 6.11}, {'connected_gene': 'LOC105370380', 'score': 0.31}]
chr13 GH13I113647 113646901 113648581 1.4 [{'connected_gene': 'GRK1', 'score': 19.1}, {'connected_gene': 'PCID2', 'score': 12.39}, {'connected_gene': 'GAS6-AS1', 'score': 10.35}, {'connected_gene': 'DCUN1D2', 'score': 9.16}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.16}, {'connected_gene': 'GAS6', 'score': 7.09}, {'connected_gene': 'PIR44469', 'score': 0.44}, {'connected_gene': 'GC13P113655', 'score': 0.44}, {'connected_gene': 'PIR60549', 'score': 0.22}]
chr13 GH13I113206 113206329 113211354 2.33 [{'connected_gene': 'PCID2', 'score': 621.79}, {'connected_gene': 'CUL4A', 'score': 550.77}, {'connected_gene': 'TUBGCP3', 'score': 88.5}, {'connected_gene': 'PROZ', 'score': 26.44}, {'connected_gene': 'GAS6-AS1', 'score': 19.71}, {'connected_gene': 'GAS6', 'score': 12.12}, {'connected_gene': 'LAMP1', 'score': 10.22}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113296 113296400 113298987 2.14 [{'connected_gene': 'LAMP1', 'score': 550.77}, {'connected_gene': 'CDC16', 'score': 76.98}, {'connected_gene': 'PCID2', 'score': 69.41}, {'connected_gene': 'TUBGCP3', 'score': 66.69}, {'connected_gene': 'UPF3A', 'score': 22.46}, {'connected_gene': 'GAS6-AS2', 'score': 12.64}, {'connected_gene': 'GAS6', 'score': 12.12}, {'connected_gene': 'CUL4A', 'score': 11.08}, {'connected_gene': 'GAS6-AS1', 'score': 10.6}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.05}, {'connected_gene': 'GC13P113323', 'score': 0.34}, {'connected_gene': 'PIR60275', 'score': 0.34}, {'connected_gene': 'GC13M113076', 'score': 0.07}]
chr13 GH13I113835 113835464 113841636 1.25 [{'connected_gene': 'TMEM255B', 'score': 21.47}, {'connected_gene': 'CDC16', 'score': 17.77}, {'connected_gene': 'PCID2', 'score': 15.43}, {'connected_gene': 'CHAMP1', 'score': 11.51}, {'connected_gene': 'GAS6-AS1', 'score': 9.17}, {'connected_gene': 'GAS6', 'score': 5.37}, {'connected_gene': 'LOC105370380', 'score': 0.34}]
chr13 GH13I113825 113825109 113826454 0.2 [{'connected_gene': 'TMEM255B', 'score': 24.07}, {'connected_gene': 'GAS6-AS1', 'score': 11.3}, {'connected_gene': 'GRK1', 'score': 4.91}, {'connected_gene': 'LOC105370380', 'score': 0.44}, {'connected_gene': 'GAS6', 'score': 0.28}]
chr13 GH13I113830 113830703 113831611 0.2 [{'connected_gene': 'TMEM255B', 'score': 10.96}, {'connected_gene': 'GAS6', 'score': 4.68}, {'connected_gene': 'GRK1', 'score': 4.66}, {'connected_gene': 'LINC00565', 'score': 4.5}, {'connected_gene': 'LOC105370380', 'score': 0.39}, {'connected_gene': 'GAS6-AS1', 'score': 0.37}]
chr13 GH13I113843 113842249 113842887 0.2 [{'connected_gene': 'TMEM255B', 'score': 8.12}, {'connected_gene': 'GAS6', 'score': 0.34}, {'connected_gene': 'LOC105370380', 'score': 0.31}, {'connected_gene': 'GAS6-AS1', 'score': 0.31}]
chr13 GH13I113859 113859151 113865108 2.58 [{'connected_gene': 'GAS6', 'score': 572.04}, {'connected_gene': 'CDC16', 'score': 28.74}, {'connected_gene': 'UPF3A', 'score': 11.37}, {'connected_gene': 'GAS6-AS1', 'score': 6.15}, {'connected_gene': 'TMEM255B', 'score': 4.75}, {'connected_gene': 'GAS6-AS2', 'score': 0.77}, {'connected_gene': 'LOC105370380', 'score': 0.26}]
chr13 GH13I113903 113903008 113903971 0.31 [{'connected_gene': 'GAS6', 'score': 18.65}, {'connected_gene': 'ENSG00000237699', 'score': 12.49}, {'connected_gene': 'CDC16', 'score': 11.21}, {'connected_gene': 'DCUN1D2', 'score': 9.3}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.14}, {'connected_gene': 'LINC00452', 'score': 0.37}, {'connected_gene': 'PIR38561', 'score': 0.34}]
chr13 GH13I113891 113891098 113891877 0.31 [{'connected_gene': 'GAS6', 'score': 12.59}, {'connected_gene': 'LINC00452', 'score': 0.44}, {'connected_gene': 'PIR38561', 'score': 0.29}]
chr13 GH13I113895 113895463 113898905 0.96 [{'connected_gene': 'GAS6', 'score': 20.12}, {'connected_gene': 'RASA3', 'score': 8.12}, {'connected_gene': 'LINC00452', 'score': 0.39}, {'connected_gene': 'PIR38561', 'score': 0.31}]
chr13 GH13I113847 113846401 113846600 0.4 [{'connected_gene': 'GAS6', 'score': 0.37}, {'connected_gene': 'LOC105370380', 'score': 0.31}]
chr13 GH13I113846 113846668 113846817 0.4 [{'connected_gene': 'GAS6', 'score': 4.79}, {'connected_gene': 'LOC105370380', 'score': 0.31}]
chr13 GH13I114126 114126222 114133201 2.77 [{'connected_gene': 'RASA3', 'score': 565.2}, {'connected_gene': 'CDC16', 'score': 84.68}, {'connected_gene': 'PCID2', 'score': 48.98}, {'connected_gene': 'CHAMP1', 'score': 27.22}, {'connected_gene': 'GAS6', 'score': 20.35}, {'connected_gene': 'UPF3A', 'score': 18.33}, {'connected_gene': 'GAS6-AS1', 'score': 10.62}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.27}, {'connected_gene': 'LINC00565', 'score': 5.5}, {'connected_gene': 'PIR55533', 'score': 0.44}]
chr13 GH13I113752 113752913 113753836 0.52 [{'connected_gene': 'LOC105377805', 'score': 550.77}, {'connected_gene': 'GAS6', 'score': 11.53}, {'connected_gene': 'ENSG00000237699', 'score': 11.52}, {'connected_gene': 'GRK1', 'score': 9.13}, {'connected_gene': 'PIR45723', 'score': 0.77}]
chr13 GH13I113833 113833434 113834006 0.46 [{'connected_gene': 'LOC105370380', 'score': 0.37}, {'connected_gene': 'GAS6-AS1', 'score': 0.37}, {'connected_gene': 'GAS6', 'score': 0.29}]
chr13 GH13I113832 113832148 113832998 0.62 [{'connected_gene': 'LOC105370380', 'score': 0.37}, {'connected_gene': 'GAS6-AS1', 'score': 0.37}, {'connected_gene': 'GAS6', 'score': 0.29}]
chr13 GH13I113815 113815066 113823088 1.56 [{'connected_gene': 'LOC105370380', 'score': 550.77}, {'connected_gene': 'TMEM255B', 'score': 49.93}, {'connected_gene': 'CDC16', 'score': 13.66}, {'connected_gene': 'GAS6-AS1', 'score': 12.76}, {'connected_gene': 'UPF3A', 'score': 11.15}, {'connected_gene': 'ADPRHL1', 'score': 7.71}, {'connected_gene': 'GAS6', 'score': 0.25}]
chr13 GH13I113925 113925376 113930340 0.76 [{'connected_gene': 'LINC00565', 'score': 555.01}, {'connected_gene': 'PIR51207', 'score': 550.77}, {'connected_gene': 'RASA3', 'score': 16.15}, {'connected_gene': 'GAS6', 'score': 6.21}, {'connected_gene': 'GC13M113928', 'score': 0.44}]
chr13 GH13I113904 113904108 113905414 0.59 [{'connected_gene': 'ENSG00000237699', 'score': 12.46}, {'connected_gene': 'GAS6', 'score': 12.41}, {'connected_gene': 'CDC16', 'score': 11.13}, {'connected_gene': 'DCUN1D2', 'score': 9.3}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.14}, {'connected_gene': 'PIR38561', 'score': 0.37}, {'connected_gene': 'LINC00452', 'score': 0.34}]
chr13 GH13I113901 113901308 113901457 0.2 [{'connected_gene': 'ENSG00000237699', 'score': 12.72}, {'connected_gene': 'GAS6', 'score': 12.66}, {'connected_gene': 'LINC00452', 'score': 0.37}, {'connected_gene': 'PIR38561', 'score': 0.34}]
chr13 GH13I113916 113916025 113916977 0.67 [{'connected_gene': 'ENSG00000237699', 'score': 12.15}, {'connected_gene': 'GAS6', 'score': 12.11}, {'connected_gene': 'PIR38561', 'score': 0.44}, {'connected_gene': 'LINC00452', 'score': 0.29}]
chr13 GH13I113913 113913946 113914589 0.38 [{'connected_gene': 'ENSG00000237699', 'score': 12.15}, {'connected_gene': 'GAS6', 'score': 12.11}, {'connected_gene': 'RASA3', 'score': 5.76}, {'connected_gene': 'PIR38561', 'score': 0.39}, {'connected_gene': 'LINC00452', 'score': 0.29}]
chr13 GH13I113914 113913128 113913681 0.31 [{'connected_gene': 'ENSG00000237699', 'score': 12.15}, {'connected_gene': 'GAS6', 'score': 12.12}, {'connected_gene': 'LINC00565', 'score': 4.59}, {'connected_gene': 'PIR38561', 'score': 0.39}, {'connected_gene': 'LINC00452', 'score': 0.31}]

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