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
ENST00000606788 [[44518782, 44520018], [44520207, 44520401], [44520554, 44520666], [44520911, 44520962], [44521036, 44521123], [44521363, 44521526], [44521858, 44521950], [44522626, 44522711], [44523288, 44523380], [44523461, 44523540], [44523632, 44523772], [44525603, 44525679], [44526355, 44526445], [44526643, 44526748], [44527005, 44527459]] [[44519964, 44520018], [44520207, 44520401], [44520554, 44520666], [44520911, 44520962], [44521036, 44521123], [44521363, 44521526], [44521858, 44521893]]
ENST00000372484 [[44519682, 44520018], [44520207, 44520401], [44520554, 44520666], [44520911, 44520962], [44521036, 44521123], [44521363, 44521519], [44521858, 44521950], [44522626, 44522711], [44523288, 44523380], [44523461, 44523540], [44523632, 44523772], [44525603, 44525679], [44526355, 44526445], [44526643, 44526748], [44527005, 44527459]] [[44519964, 44520018], [44520207, 44520401], [44520554, 44520666], [44520911, 44520962], [44521036, 44521123], [44521363, 44521519], [44521858, 44521950], [44522626, 44522711], [44523288, 44523380], [44523461, 44523540], [44523632, 44523772], [44525603, 44525679], [44526355, 44526445], [44526643, 44526748], [44527005, 44527089]]
ENST00000606394 [[44519951, 44520018], [44520207, 44520401], [44521036, 44521123], [44521363, 44521519], [44521858, 44521938]] [[44519964, 44520018], [44520207, 44520401], [44521036, 44521037]]
ENST00000354880 [[44519960, 44520018], [44520207, 44520401], [44520554, 44520666], [44521036, 44521123], [44521363, 44521519], [44521858, 44521950], [44522626, 44522711], [44523288, 44523380], [44523461, 44523540], [44523632, 44523772], [44525603, 44525679], [44526355, 44526445], [44526643, 44526748], [44527005, 44527459]] [[44519964, 44520018], [44520207, 44520401], [44520554, 44520666], [44521036, 44521123], [44521363, 44521519], [44521858, 44521950], [44522626, 44522711], [44523288, 44523380], [44523461, 44523540], [44523632, 44523772], [44525603, 44525679], [44526355, 44526445], [44526643, 44526748], [44527005, 44527089]]
ENST00000607841 [[44519973, 44520018], [44520207, 44520401], [44520554, 44520886]] None
ENST00000606066 [[44519973, 44520018], [44520207, 44520401], [44520554, 44520666], [44520911, 44521123], [44521363, 44521403]] None
ENST00000191018 [[44519979, 44520064], [44520207, 44520401], [44520554, 44520666], [44520911, 44520962], [44521036, 44521123], [44521363, 44521519], [44521858, 44521950], [44522626, 44522711], [44523288, 44523380], [44523461, 44523540], [44523632, 44523772], [44525603, 44525679], [44526355, 44526445], [44526643, 44526748], [44527005, 44527459]] [[44520207, 44520401], [44520554, 44520666], [44520911, 44520962], [44521036, 44521123], [44521363, 44521519], [44521858, 44521950], [44522626, 44522711], [44523288, 44523380], [44523461, 44523540], [44523632, 44523772], [44525603, 44525679], [44526355, 44526445], [44526643, 44526748], [44527005, 44527089]]
ENST00000607814 [[44519993, 44520018], [44520207, 44520666], [44520911, 44521011]] None
ENST00000607212 [[44519995, 44520018], [44520207, 44520666], [44520911, 44520962], [44521036, 44521093]] None
ENST00000607482 [[44520014, 44520088], [44520207, 44520401], [44520554, 44520666], [44520911, 44520934]] [[44520207, 44520401], [44520554, 44520666], [44520911, 44520934]]
ENST00000372459 [[44520014, 44520401], [44520554, 44520666], [44520911, 44520962], [44521036, 44521123], [44521363, 44521519], [44521858, 44521950], [44522626, 44522711], [44523288, 44523380], [44523461, 44523540], [44523632, 44523772], [44525603, 44525679], [44526355, 44526445], [44526643, 44526748], [44527005, 44527425]] [[44520207, 44520401], [44520554, 44520666], [44520911, 44520962], [44521036, 44521123], [44521363, 44521519], [44521858, 44521950], [44522626, 44522711], [44523288, 44523380], [44523461, 44523540], [44523632, 44523772], [44525603, 44525679], [44526355, 44526445], [44526643, 44526748], [44527005, 44527089]]
ENST00000485627 [[44520944, 44520962], [44521036, 44521123], [44521363, 44521519], [44521858, 44521950], [44522626, 44522968]] None
ENST00000606782 [[44521046, 44521123], [44521363, 44521868]] None
ENST00000419493 [[44521390, 44521519], [44521858, 44521950], [44522626, 44522711], [44523288, 44523380], [44523471, 44523540], [44523632, 44523771]] [[44521390, 44521519], [44521858, 44521950], [44522626, 44522711], [44523288, 44523380], [44523471, 44523540], [44523632, 44523771]]
ENST00000493522 [[44521599, 44521950], [44522626, 44522711], [44523288, 44523380], [44523461, 44523540], [44523632, 44523772], [44525603, 44525679], [44526355, 44526433]] None
ENST00000480961 [[44522626, 44522711], [44523288, 44523380], [44523461, 44523540], [44523632, 44523889]] None
ENST00000484855 [[44525019, 44526748], [44527005, 44527459]] None
ENST00000607187 [[44525237, 44525679], [44526355, 44526422]] None
ENST00000606000 [[44526264, 44526445], [44526546, 44526748], [44527005, 44527266]] None
NM_001167594 [[44518782, 44520018], [44520207, 44520401], [44520554, 44520666], [44521036, 44521123], [44521363, 44521519], [44521858, 44521950], [44522626, 44522711], [44523288, 44523380], [44523461, 44523540], [44523632, 44523772], [44525603, 44525679], [44526355, 44526445], [44526643, 44526748], [44527005, 44527459]] [[44519964, 44520018], [44520207, 44520401], [44520554, 44520666], [44521036, 44521123], [44521363, 44521519], [44521858, 44521950], [44522626, 44522711], [44523288, 44523380], [44523461, 44523540], [44523632, 44523772], [44525603, 44525679], [44526355, 44526445], [44526643, 44526748], [44527005, 44527089]]
NM_000308 [[44518782, 44520018], [44520207, 44520401], [44520554, 44520666], [44520911, 44520962], [44521036, 44521123], [44521363, 44521519], [44521858, 44521950], [44522626, 44522711], [44523288, 44523380], [44523461, 44523540], [44523632, 44523772], [44525603, 44525679], [44526355, 44526445], [44526643, 44526748], [44527005, 44527459]] [[44519964, 44520018], [44520207, 44520401], [44520554, 44520666], [44520911, 44520962], [44521036, 44521123], [44521363, 44521519], [44521858, 44521950], [44522626, 44522711], [44523288, 44523380], [44523461, 44523540], [44523632, 44523772], [44525603, 44525679], [44526355, 44526445], [44526643, 44526748], [44527005, 44527089]]
NR_133656 [[44518782, 44520018], [44520207, 44520401], [44520554, 44520666], [44520911, 44520962], [44521036, 44521123], [44521363, 44521526], [44521858, 44521950], [44522626, 44522711], [44523288, 44523380], [44523461, 44523540], [44523632, 44523772], [44525603, 44525679], [44526355, 44526445], [44526643, 44526748], [44527005, 44527459]] None
NM_001127695 [[44518782, 44520064], [44520207, 44520401], [44520554, 44520666], [44520911, 44520962], [44521036, 44521123], [44521363, 44521519], [44521858, 44521950], [44522626, 44522711], [44523288, 44523380], [44523461, 44523540], [44523632, 44523772], [44525603, 44525679], [44526355, 44526445], [44526643, 44526748], [44527005, 44527459]] [[44520207, 44520401], [44520554, 44520666], [44520911, 44520962], [44521036, 44521123], [44521363, 44521519], [44521858, 44521950], [44522626, 44522711], [44523288, 44523380], [44523461, 44523540], [44523632, 44523772], [44525603, 44525679], [44526355, 44526445], [44526643, 44526748], [44527005, 44527089]]
Promoter
Chrom Start End Description
chr20 44518878 44518940 CAGE_peak_5_at_CTSA_5end
chr20 44519948 44519986 CAGE_peak_1_at_CTSA_5end
chr20 44519987 44519999 CAGE_peak_3_at_CTSA_5end
chr20 44520009 44520020 CAGE_peak_2_at_CTSA_5end
chr20 44521809 44521827 CAGE_peak_11_at_CTSA_5end
chr20 44521855 44521887 CAGE_peak_4_at_CTSA_5end
chr20 44522619 44522642 CAGE_peak_7_at_CTSA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I045933 45933164 45939495 2.34 [{'connected_gene': 'PCIF1', 'score': 562.62}, {'connected_gene': 'SNX21', 'score': 27.86}, {'connected_gene': 'NCOA5', 'score': 27.62}, {'connected_gene': 'TP53RK', 'score': 27.46}, {'connected_gene': 'SPATA25', 'score': 25.61}, {'connected_gene': 'ZNF335', 'score': 23.89}, {'connected_gene': 'PLTP', 'score': 23.26}, {'connected_gene': 'SLC35C2', 'score': 22.54}, {'connected_gene': 'WFDC3', 'score': 17.33}, {'connected_gene': 'ENSG00000271984', 'score': 13.62}, {'connected_gene': 'ACOT8', 'score': 11.88}, {'connected_gene': 'ZSWIM3', 'score': 11.88}, {'connected_gene': 'CTSA', 'score': 11.58}, {'connected_gene': 'NEURL2', 'score': 11.58}, {'connected_gene': 'ZSWIM1', 'score': 11.35}, {'connected_gene': 'TNNC2', 'score': 11.28}, {'connected_gene': 'UBE2C', 'score': 11.11}, {'connected_gene': 'DNTTIP1', 'score': 10.41}, {'connected_gene': 'CD40', 'score': 10.38}, {'connected_gene': 'SLC12A5', 'score': 10.06}, {'connected_gene': 'SLC12A5-AS1', 'score': 10.06}, {'connected_gene': 'TOMM34', 'score': 4.54}]
chr20 GH20I045824 45822102 45822291 0.63 [{'connected_gene': 'PLTP', 'score': 16.17}, {'connected_gene': 'ACOT8', 'score': 11.13}, {'connected_gene': 'ZSWIM3', 'score': 11.13}, {'connected_gene': 'ZSWIM1', 'score': 10.84}, {'connected_gene': 'DNTTIP1', 'score': 10.64}, {'connected_gene': 'WFDC3', 'score': 10.64}, {'connected_gene': 'SPATA25', 'score': 10.49}, {'connected_gene': 'NEURL2', 'score': 10.49}, {'connected_gene': 'CTSA', 'score': 10.49}, {'connected_gene': 'UBE2C', 'score': 0.44}, {'connected_gene': 'SNX21', 'score': 0.39}]
chr20 GH20I045889 45889771 45894261 2.12 [{'connected_gene': 'NEURL2', 'score': 560.47}, {'connected_gene': 'CTSA', 'score': 550.77}, {'connected_gene': 'ENSG00000271984', 'score': 550.77}, {'connected_gene': 'NCOA5', 'score': 24.5}, {'connected_gene': 'WFDC3', 'score': 24.24}, {'connected_gene': 'CD40', 'score': 11.77}, {'connected_gene': 'RPS2P7', 'score': 10.46}, {'connected_gene': 'TP53RK', 'score': 9.93}, {'connected_gene': 'PLTP', 'score': 8.02}]
chr20 GH20I045822 45822801 45825423 1.2 [{'connected_gene': 'WFDC3', 'score': 45.37}, {'connected_gene': 'PLTP', 'score': 15.49}, {'connected_gene': 'NCOA5', 'score': 14.75}, {'connected_gene': 'ACOT8', 'score': 11.15}, {'connected_gene': 'ZSWIM3', 'score': 11.15}, {'connected_gene': 'ZSWIM1', 'score': 10.84}, {'connected_gene': 'DNTTIP1', 'score': 10.64}, {'connected_gene': 'ZNF334', 'score': 10.5}, {'connected_gene': 'SPATA25', 'score': 10.49}, {'connected_gene': 'NEURL2', 'score': 10.49}, {'connected_gene': 'CTSA', 'score': 10.49}, {'connected_gene': 'SNX21', 'score': 0.44}, {'connected_gene': 'TNNC2', 'score': 0.44}, {'connected_gene': 'UBE2C', 'score': 0.39}]
chr20 GH20I045817 45817174 45818668 1.25 [{'connected_gene': 'WFDC3', 'score': 43.79}, {'connected_gene': 'PLTP', 'score': 15.68}, {'connected_gene': 'NCOA5', 'score': 12.54}, {'connected_gene': 'ACOT8', 'score': 11.84}, {'connected_gene': 'ZSWIM3', 'score': 11.84}, {'connected_gene': 'DNTTIP1', 'score': 11.29}, {'connected_gene': 'ZSWIM1', 'score': 11.08}, {'connected_gene': 'SPATA25', 'score': 10.93}, {'connected_gene': 'NEURL2', 'score': 10.93}, {'connected_gene': 'CTSA', 'score': 10.93}, {'connected_gene': 'SNX21', 'score': 9.18}, {'connected_gene': 'WFDC13', 'score': 6.27}, {'connected_gene': 'UBE2C', 'score': 0.44}]
chr20 GH20I045924 45924059 45926211 1.17 [{'connected_gene': 'WFDC3', 'score': 15.22}, {'connected_gene': 'PLTP', 'score': 12.36}, {'connected_gene': 'NEURL2', 'score': 11.63}, {'connected_gene': 'CTSA', 'score': 11.63}, {'connected_gene': 'SPATA25', 'score': 11.61}, {'connected_gene': 'SNX21', 'score': 11.19}, {'connected_gene': 'TNNC2', 'score': 11.19}, {'connected_gene': 'ACOT8', 'score': 11.12}, {'connected_gene': 'ZSWIM3', 'score': 11.12}, {'connected_gene': 'UBE2C', 'score': 10.98}, {'connected_gene': 'DNTTIP1', 'score': 10.54}, {'connected_gene': 'SLC12A5', 'score': 9.66}, {'connected_gene': 'SLC12A5-AS1', 'score': 9.66}, {'connected_gene': 'PCIF1', 'score': 0.44}]
chr20 GH20I045917 45917214 45921240 1.27 [{'connected_gene': 'WFDC3', 'score': 15.61}, {'connected_gene': 'NEURL2', 'score': 11.61}, {'connected_gene': 'CTSA', 'score': 11.61}, {'connected_gene': 'SPATA25', 'score': 11.59}, {'connected_gene': 'PLTP', 'score': 11.39}, {'connected_gene': 'ACOT8', 'score': 11.12}, {'connected_gene': 'ZSWIM3', 'score': 11.12}, {'connected_gene': 'SNX21', 'score': 11.04}, {'connected_gene': 'TNNC2', 'score': 11.04}, {'connected_gene': 'UBE2C', 'score': 10.9}, {'connected_gene': 'DNTTIP1', 'score': 10.55}, {'connected_gene': 'SLC12A5', 'score': 9.78}, {'connected_gene': 'SLC12A5-AS1', 'score': 9.78}, {'connected_gene': 'PCIF1', 'score': 0.37}]
chr20 GH20I045963 45963082 45963231 0.68 [{'connected_gene': 'SPATA25', 'score': 11.09}, {'connected_gene': 'ZSWIM1', 'score': 10.92}, {'connected_gene': 'UBE2C', 'score': 10.89}, {'connected_gene': 'CTSA', 'score': 10.89}, {'connected_gene': 'NEURL2', 'score': 10.89}, {'connected_gene': 'TNNC2', 'score': 10.72}, {'connected_gene': 'SNX21', 'score': 10.72}, {'connected_gene': 'PLTP', 'score': 10.67}, {'connected_gene': 'DNTTIP1', 'score': 10.52}, {'connected_gene': 'WFDC3', 'score': 10.52}, {'connected_gene': 'SLC12A5', 'score': 10.41}, {'connected_gene': 'SLC12A5-AS1', 'score': 10.41}, {'connected_gene': 'NCOA5', 'score': 10.07}, {'connected_gene': 'RNU6ATAC38P', 'score': 8.81}, {'connected_gene': 'ZNF335', 'score': 0.44}, {'connected_gene': 'PCIF1', 'score': 0.31}]
chr20 GH20I045819 45819902 45820564 0.59 [{'connected_gene': 'ACOT8', 'score': 11.13}, {'connected_gene': 'ZSWIM3', 'score': 11.13}, {'connected_gene': 'ZSWIM1', 'score': 10.82}, {'connected_gene': 'DNTTIP1', 'score': 10.66}, {'connected_gene': 'WFDC3', 'score': 10.66}, {'connected_gene': 'SPATA25', 'score': 10.49}, {'connected_gene': 'CTSA', 'score': 10.49}, {'connected_gene': 'NEURL2', 'score': 10.48}, {'connected_gene': 'PLTP', 'score': 10.32}, {'connected_gene': 'UBE2C', 'score': 0.44}, {'connected_gene': 'SNX21', 'score': 0.39}]
chr20 GH20I045823 45822432 45822771 0.58 [{'connected_gene': 'ACOT8', 'score': 11.15}, {'connected_gene': 'ZSWIM3', 'score': 11.15}, {'connected_gene': 'ZSWIM1', 'score': 10.84}, {'connected_gene': 'DNTTIP1', 'score': 10.64}, {'connected_gene': 'WFDC3', 'score': 10.64}, {'connected_gene': 'SPATA25', 'score': 10.49}, {'connected_gene': 'NEURL2', 'score': 10.49}, {'connected_gene': 'CTSA', 'score': 10.49}, {'connected_gene': 'PLTP', 'score': 10.33}, {'connected_gene': 'UBE2C', 'score': 0.39}, {'connected_gene': 'SNX21', 'score': 0.39}]

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